#Format: HPO-id<tab>HPO label<tab>entrez-gene-id<tab>entrez-gene-symbol<tab>Additional Info from G-D source<tab>G-D source<tab>disease-ID for link
HP:0000135	Hypogonadism	7157	TP53	-	mim2gene	OMIM:618165
HP:0000238	Hydrocephalus	7157	TP53		orphadata	ORPHA:2807
HP:0000238	Hydrocephalus	7157	TP53	susceptibility	mim2gene	OMIM:260500
HP:0000252	Microcephaly	7157	TP53	-	mim2gene	OMIM:618165
HP:0000737	Irritability	7157	TP53		orphadata	ORPHA:1501
HP:0000739	Anxiety	7157	TP53		orphadata	ORPHA:1501
HP:0000822	Hypertension	7157	TP53		orphadata	ORPHA:1501
HP:0000859	Hyperaldosteronism	7157	TP53		orphadata	ORPHA:1501
HP:0000952	Jaundice	7157	TP53		orphadata	ORPHA:1333
HP:0000969	Edema	7157	TP53		orphadata	ORPHA:668
HP:0000969	Edema	7157	TP53		orphadata	ORPHA:668
HP:0000975	Hyperhidrosis	7157	TP53		orphadata	ORPHA:1501
HP:0000998	Hypertrichosis	7157	TP53		orphadata	ORPHA:1501
HP:0001085	Papilledema	7157	TP53	susceptibility	mim2gene	OMIM:260500
HP:0001250	Seizure	7157	TP53	-	mim2gene	OMIM:618165
HP:0001250	Seizure	7157	TP53		orphadata	ORPHA:2807
HP:0001250	Seizure	7157	TP53	susceptibility	mim2gene	OMIM:260500
HP:0001276	Hypertonia	7157	TP53		orphadata	ORPHA:2807
HP:0001297	Stroke	7157	TP53		orphadata	ORPHA:3318
HP:0001298	Encephalopathy	7157	TP53		orphadata	ORPHA:524
HP:0001394	Cirrhosis	7157	TP53	-	mim2gene	OMIM:114550
HP:0001396	Cholestasis	7157	TP53		orphadata	ORPHA:1333
HP:0001425	Heterogeneous	7157	TP53	-	mim2gene	OMIM:114550
HP:0001425	Heterogeneous	7157	TP53	-	mim2gene	OMIM:114480
HP:0001433	Hepatosplenomegaly	7157	TP53		orphadata	ORPHA:1333
HP:0001744	Splenomegaly	7157	TP53		orphadata	ORPHA:3318
HP:0001903	Anemia	7157	TP53	-	mim2gene	OMIM:618165
HP:0001909	Leukemia	7157	TP53	-	mim2gene	OMIM:151623
HP:0001909	Leukemia	7157	TP53		orphadata	ORPHA:3318
HP:0100242	Sarcoma	7157	TP53		orphadata	ORPHA:524
HP:0100242	Sarcoma	7157	TP53	susceptibility	mim2gene	OMIM:259500
HP:0100242	Sarcoma	7157	TP53	-	mim2gene	OMIM:151623
HP:0001945	Fever	7157	TP53		orphadata	ORPHA:668
HP:0001945	Fever	7157	TP53		orphadata	ORPHA:668
HP:0001962	Palpitations	7157	TP53		orphadata	ORPHA:1501
HP:0002013	Vomiting	7157	TP53	susceptibility	mim2gene	OMIM:260500
HP:0002014	Diarrhea	7157	TP53		orphadata	ORPHA:1333
HP:0002018	Nausea	7157	TP53	susceptibility	mim2gene	OMIM:260500
HP:0002039	Anorexia	7157	TP53		orphadata	ORPHA:1333
HP:0002315	Headache	7157	TP53	susceptibility	mim2gene	OMIM:260500
HP:0100768	Choriocarcinoma	7157	TP53	-	mim2gene	OMIM:151623
HP:0002664	Neoplasm	7157	TP53		orphadata	ORPHA:524
HP:0002664	Neoplasm	7157	TP53	-	mim2gene	OMIM:607107
HP:0002664	Neoplasm	7157	TP53		orphadata	ORPHA:3318
HP:0002664	Neoplasm	7157	TP53	-	mim2gene	OMIM:260350
HP:0002664	Neoplasm	7157	TP53		orphadata	ORPHA:2807
HP:0002664	Neoplasm	7157	TP53	susceptibility	mim2gene	OMIM:259500
HP:0002664	Neoplasm	7157	TP53		orphadata	ORPHA:145
HP:0002664	Neoplasm	7157	TP53	susceptibility	mim2gene	OMIM:202300
HP:0002664	Neoplasm	7157	TP53	susceptibility	mim2gene	OMIM:260500
HP:0002664	Neoplasm	7157	TP53	-	mim2gene	OMIM:114550
HP:0002664	Neoplasm	7157	TP53	-	mim2gene	OMIM:114480
HP:0002664	Neoplasm	7157	TP53	susceptibility	mim2gene	OMIM:137800
HP:0002664	Neoplasm	7157	TP53	-	mim2gene	OMIM:151623
HP:0002664	Neoplasm	7157	TP53		orphadata	ORPHA:1333
HP:0002664	Neoplasm	7157	TP53		orphadata	ORPHA:1501
HP:0002665	Lymphoma	7157	TP53		orphadata	ORPHA:524
HP:0002667	Nephroblastoma	7157	TP53	-	mim2gene	OMIM:151623
HP:0002669	Osteosarcoma	7157	TP53	-	mim2gene	OMIM:151623
HP:0002669	Osteosarcoma	7157	TP53		orphadata	ORPHA:524
HP:0002669	Osteosarcoma	7157	TP53	susceptibility	mim2gene	OMIM:259500
HP:0002716	Lymphadenopathy	7157	TP53		orphadata	ORPHA:1333
HP:0002797	Osteolysis	7157	TP53		orphadata	ORPHA:668
HP:0002797	Osteolysis	7157	TP53		orphadata	ORPHA:668
HP:0002861	Melanoma	7157	TP53		orphadata	ORPHA:524
HP:0002861	Melanoma	7157	TP53		orphadata	ORPHA:1333
HP:0002861	Melanoma	7157	TP53		orphadata	ORPHA:145
HP:0002863	Myelodysplasia	7157	TP53		orphadata	ORPHA:3318
HP:0002888	Ependymoma	7157	TP53	susceptibility	mim2gene	OMIM:137800
HP:0002900	Hypokalemia	7157	TP53		orphadata	ORPHA:1501
HP:0003271	Visceromegaly	7157	TP53		orphadata	ORPHA:3318
HP:0003271	Visceromegaly	7157	TP53		orphadata	ORPHA:1333
HP:0003401	Paresthesia	7157	TP53		orphadata	ORPHA:3318
HP:0004374	Hemiplegia/hemiparesis	7157	TP53		orphadata	ORPHA:2807
HP:0040075	Hypopituitarism	7157	TP53		orphadata	ORPHA:1501
HP:0025615	Abscess	7157	TP53		orphadata	ORPHA:1333
HP:0009592	Astrocytoma	7157	TP53	susceptibility	mim2gene	OMIM:137800
HP:0009733	Glioma	7157	TP53	susceptibility	mim2gene	OMIM:137800
HP:0009919	Retinoblastoma	7157	TP53	susceptibility	mim2gene	OMIM:259500
HP:0011675	Arrhythmia	7157	TP53		orphadata	ORPHA:1501
HP:0011974	Myelofibrosis	7157	TP53		orphadata	ORPHA:3318
HP:0012115	Hepatitis	7157	TP53	-	mim2gene	OMIM:114550
HP:0012378	Fatigue	7157	TP53		orphadata	ORPHA:1333
HP:0012531	Pain	7157	TP53		orphadata	ORPHA:3318
HP:0012531	Pain	7157	TP53		orphadata	ORPHA:668
HP:0012531	Pain	7157	TP53		orphadata	ORPHA:668
HP:0012531	Pain	7157	TP53		orphadata	ORPHA:1333
HP:0012531	Pain	7157	TP53		orphadata	ORPHA:1501
HP:0012740	Papilloma	7157	TP53		orphadata	ORPHA:2807
HP:0012740	Papilloma	7157	TP53	susceptibility	mim2gene	OMIM:260500
HP:0004332	Abnormal lymphocyte morphology	5897	RAG2	-	mim2gene	OMIM:233650
HP:0004332	Abnormal lymphocyte morphology	200942	KLHDC8B	susceptibility	mim2gene	OMIM:236000
HP:0004332	Abnormal lymphocyte morphology	2672	GFI1	-	mim2gene	OMIM:613107
HP:0004332	Abnormal lymphocyte morphology	79633	FAT4		orphadata	ORPHA:2136
HP:0004332	Abnormal lymphocyte morphology	1789	DNMT3B	-	mim2gene	OMIM:242860
HP:0004332	Abnormal lymphocyte morphology	4791	NFKB2		orphadata	ORPHA:293978
HP:0004332	Abnormal lymphocyte morphology	92579	G6PC3	-	mim2gene	OMIM:612541
HP:0004332	Abnormal lymphocyte morphology	64421	DCLRE1C		orphadata	ORPHA:275
HP:0004333	Bone-marrow foam cells	6609	SMPD1	-	mim2gene	OMIM:257200
HP:0004333	Bone-marrow foam cells	6609	SMPD1	-	mim2gene	OMIM:607616
HP:0004333	Bone-marrow foam cells	3988	LIPA		orphadata	ORPHA:75233
HP:0004333	Bone-marrow foam cells	4758	NEU1	-	mim2gene	OMIM:256550
HP:0004333	Bone-marrow foam cells	4864	NPC1	-	mim2gene	OMIM:257220
HP:0004333	Bone-marrow foam cells	10577	NPC2	-	mim2gene	OMIM:607625
HP:0004333	Bone-marrow foam cells	3988	LIPA	-	mim2gene	OMIM:278000
HP:0004334	Dermal atrophy	1294	COL7A1		orphadata	ORPHA:79409
HP:0004334	Dermal atrophy	1290	COL5A2		orphadata	ORPHA:287
HP:0004334	Dermal atrophy	667	DST	-	mim2gene	OMIM:615425
HP:0004334	Dermal atrophy	3691	ITGB4		orphadata	ORPHA:79402
HP:0004334	Dermal atrophy	3852	KRT5		orphadata	ORPHA:79400
HP:0004334	Dermal atrophy	2074	ERCC6	-	mim2gene	OMIM:133540
HP:0004334	Dermal atrophy	1277	COL1A1	-	mim2gene	OMIM:130060
HP:0004334	Dermal atrophy	5573	PRKAR1A	-	mim2gene	OMIM:610489
HP:0004334	Dermal atrophy	117581	TWIST2	-	mim2gene	OMIM:209885
HP:0004334	Dermal atrophy	1289	COL5A1	-	mim2gene	OMIM:130010
HP:0004334	Dermal atrophy	3691	ITGB4	-	mim2gene	OMIM:226730
HP:0004334	Dermal atrophy	7507	XPA	-	mim2gene	OMIM:278700
HP:0004334	Dermal atrophy	1075	CTSC		orphadata	ORPHA:678
HP:0004334	Dermal atrophy	9401	RECQL4	-	mim2gene	OMIM:268400
HP:0004334	Dermal atrophy	11285	B4GALT7	-	mim2gene	OMIM:130070
HP:0004334	Dermal atrophy	64840	PORCN		orphadata	ORPHA:2092
HP:0004334	Dermal atrophy	2072	ERCC4		orphadata	ORPHA:220295
HP:0004334	Dermal atrophy	4000	LMNA		orphadata	ORPHA:90153
HP:0004334	Dermal atrophy	3914	LAMB3		orphadata	ORPHA:79404
HP:0004334	Dermal atrophy	3861	KRT14		orphadata	ORPHA:89838
HP:0004334	Dermal atrophy	2071	ERCC3	-	mim2gene	OMIM:610651
HP:0004334	Dermal atrophy	7508	XPC	-	mim2gene	OMIM:278720
HP:0004334	Dermal atrophy	2068	ERCC2	-	mim2gene	OMIM:278730
HP:0004334	Dermal atrophy	9049	AIP	-	mim2gene	OMIM:219090
HP:0004334	Dermal atrophy	10269	ZMPSTE24	-	mim2gene	OMIM:608612
HP:0004334	Dermal atrophy	2068	ERCC2		orphadata	ORPHA:910
HP:0004334	Dermal atrophy	7015	TERT		orphadata	ORPHA:3322
HP:0004334	Dermal atrophy	1290	COL5A2	-	mim2gene	OMIM:130010
HP:0004334	Dermal atrophy	3909	LAMA3		orphadata	ORPHA:79402
HP:0004334	Dermal atrophy	8626	TP63	-	mim2gene	OMIM:103285
HP:0004334	Dermal atrophy	2072	ERCC4	-	mim2gene	OMIM:610965
HP:0004334	Dermal atrophy	715	C1R		orphadata	ORPHA:75392
HP:0004334	Dermal atrophy	2934	GSN		orphadata	ORPHA:85448
HP:0004334	Dermal atrophy	11285	B4GALT7		orphadata	ORPHA:75496
HP:0004334	Dermal atrophy	10269	ZMPSTE24		orphadata	ORPHA:1662
HP:0004334	Dermal atrophy	165	AEBP1	-	mim2gene	OMIM:618000
HP:0004334	Dermal atrophy	146206	CARMIL2	-	mim2gene	OMIM:618131
HP:0004334	Dermal atrophy	7012	TERC	-	mim2gene	OMIM:127550
HP:0004334	Dermal atrophy	5424	POLD1	-	mim2gene	OMIM:615381
HP:0004334	Dermal atrophy	55033	FKBP14		orphadata	ORPHA:300179
HP:0004334	Dermal atrophy	5167	ENPP1		orphadata	ORPHA:758
HP:0004334	Dermal atrophy	1308	COL17A1		orphadata	ORPHA:79402
HP:0004334	Dermal atrophy	50940	PDE11A	-	mim2gene	OMIM:610475
HP:0004334	Dermal atrophy	1294	COL7A1		orphadata	ORPHA:158673
HP:0004334	Dermal atrophy	3861	KRT14		orphadata	ORPHA:79396
HP:0004334	Dermal atrophy	5073	PARN		orphadata	ORPHA:3322
HP:0004334	Dermal atrophy	2200	FBN1	-	mim2gene	OMIM:154700
HP:0004334	Dermal atrophy	50940	PDE11A		orphadata	ORPHA:189439
HP:0004334	Dermal atrophy	8450	CUL4B	-	mim2gene	OMIM:300354
HP:0004334	Dermal atrophy	3918	LAMC2		orphadata	ORPHA:79405
HP:0004334	Dermal atrophy	1294	COL7A1		orphadata	ORPHA:79408
HP:0004334	Dermal atrophy	2071	ERCC3		orphadata	ORPHA:220295
HP:0004334	Dermal atrophy	2072	ERCC4		orphadata	ORPHA:910
HP:0004334	Dermal atrophy	2200	FBN1	-	mim2gene	OMIM:604308
HP:0004334	Dermal atrophy	3918	LAMC2	-	mim2gene	OMIM:226700
HP:0004334	Dermal atrophy	3909	LAMA3	-	mim2gene	OMIM:226700
HP:0004334	Dermal atrophy	715	C1R	-	mim2gene	OMIM:130080
HP:0004334	Dermal atrophy	3914	LAMB3	-	mim2gene	OMIM:226700
HP:0004334	Dermal atrophy	1294	COL7A1		orphadata	ORPHA:89839
HP:0004334	Dermal atrophy	26277	TINF2	-	mim2gene	OMIM:127550
HP:0004334	Dermal atrophy	7020	TFAP2A	-	mim2gene	OMIM:113620
HP:0004334	Dermal atrophy	1294	COL7A1		orphadata	ORPHA:89841
HP:0004334	Dermal atrophy	1277	COL1A1		orphadata	ORPHA:287
HP:0004334	Dermal atrophy	1349	COX7B		orphadata	ORPHA:2556
HP:0004334	Dermal atrophy	1281	COL3A1	-	mim2gene	OMIM:618343
HP:0004334	Dermal atrophy	64682	ANAPC1		orphadata	ORPHA:221008
HP:0004334	Dermal atrophy	64840	PORCN	-	mim2gene	OMIM:305600
HP:0004334	Dermal atrophy	2074	ERCC6	-	mim2gene	OMIM:278800
HP:0004334	Dermal atrophy	7015	TERT	-	mim2gene	OMIM:127550
HP:0004334	Dermal atrophy	5573	PRKAR1A		orphadata	ORPHA:189439
HP:0004334	Dermal atrophy	2073	ERCC5		orphadata	ORPHA:220295
HP:0004334	Dermal atrophy	3852	KRT5		orphadata	ORPHA:79397
HP:0004334	Dermal atrophy	2073	ERCC5		orphadata	ORPHA:910
HP:0004334	Dermal atrophy	3909	LAMA3		orphadata	ORPHA:79404
HP:0004334	Dermal atrophy	65057	ACD		orphadata	ORPHA:3322
HP:0004334	Dermal atrophy	1278	COL1A2	-	mim2gene	OMIM:617821
HP:0004334	Dermal atrophy	5339	PLEC		orphadata	ORPHA:257
HP:0004334	Dermal atrophy	1718	DHCR24		orphadata	ORPHA:35107
HP:0004334	Dermal atrophy	3861	KRT14		orphadata	ORPHA:79397
HP:0004334	Dermal atrophy	3918	LAMC2		orphadata	ORPHA:79404
HP:0004334	Dermal atrophy	9101	USP8	-	mim2gene	OMIM:219090
HP:0004334	Dermal atrophy	1294	COL7A1	-	mim2gene	OMIM:131750
HP:0004334	Dermal atrophy	1294	COL7A1		orphadata	ORPHA:79411
HP:0004334	Dermal atrophy	7048	TGFBR2		orphadata	ORPHA:60030
HP:0004334	Dermal atrophy	8622	PDE8B		orphadata	ORPHA:189439
HP:0004334	Dermal atrophy	7042	TGFB2	-	mim2gene	OMIM:614816
HP:0004334	Dermal atrophy	1294	COL7A1		orphadata	ORPHA:231568
HP:0004334	Dermal atrophy	1308	COL17A1		orphadata	ORPHA:79406
HP:0004334	Dermal atrophy	1278	COL1A2	-	mim2gene	OMIM:225320
HP:0004334	Dermal atrophy	7046	TGFBR1		orphadata	ORPHA:60030
HP:0004334	Dermal atrophy	6452	SH3BP2	-	mim2gene	OMIM:118400
HP:0004334	Dermal atrophy	5566	PRKACA		orphadata	ORPHA:189439
HP:0004334	Dermal atrophy	1289	COL5A1		orphadata	ORPHA:287
HP:0004334	Dermal atrophy	7507	XPA		orphadata	ORPHA:910
HP:0004334	Dermal atrophy	23592	LEMD3		orphadata	ORPHA:1306
HP:0004334	Dermal atrophy	5339	PLEC	-	mim2gene	OMIM:226730
HP:0004334	Dermal atrophy	1736	DKC1	-	mim2gene	OMIM:305000
HP:0004334	Dermal atrophy	1294	COL7A1		orphadata	ORPHA:89843
HP:0004334	Dermal atrophy	26277	TINF2		orphadata	ORPHA:3322
HP:0004334	Dermal atrophy	5429	POLH		orphadata	ORPHA:90342
HP:0004334	Dermal atrophy	10269	ZMPSTE24		orphadata	ORPHA:90154
HP:0004334	Dermal atrophy	3655	ITGA6	-	mim2gene	OMIM:226730
HP:0004334	Dermal atrophy	3852	KRT5		orphadata	ORPHA:79396
HP:0004334	Dermal atrophy	1643	DDB2		orphadata	ORPHA:910
HP:0004334	Dermal atrophy	4000	LMNA		orphadata	ORPHA:1662
HP:0004334	Dermal atrophy	2068	ERCC2		orphadata	ORPHA:220295
HP:0004334	Dermal atrophy	3052	HCCS		orphadata	ORPHA:2556
HP:0004334	Dermal atrophy	3861	KRT14	-	mim2gene	OMIM:131760
HP:0004334	Dermal atrophy	368	ABCC6		orphadata	ORPHA:758
HP:0004334	Dermal atrophy	1736	DKC1		orphadata	ORPHA:3322
HP:0004334	Dermal atrophy	54539	NDUFB11		orphadata	ORPHA:2556
HP:0004334	Dermal atrophy	1643	DDB2	-	mim2gene	OMIM:278740
HP:0004334	Dermal atrophy	3852	KRT5	-	mim2gene	OMIM:131760
HP:0004334	Dermal atrophy	1294	COL7A1	-	mim2gene	OMIM:131705
HP:0004334	Dermal atrophy	7048	TGFBR2	-	mim2gene	OMIM:610168
HP:0004334	Dermal atrophy	4256	MGP		orphadata	ORPHA:85202
HP:0004334	Dermal atrophy	3861	KRT14		orphadata	ORPHA:79400
HP:0004334	Dermal atrophy	54345	SOX18		orphadata	ORPHA:69735
HP:0004334	Dermal atrophy	1294	COL7A1		orphadata	ORPHA:89842
HP:0004334	Dermal atrophy	4000	LMNA	-	mim2gene	OMIM:248370
HP:0004334	Dermal atrophy	4312	MMP1	susceptibility; modifier	mim2gene	OMIM:226600
HP:0004334	Dermal atrophy	1294	COL7A1	-	mim2gene	OMIM:226600
HP:0004334	Dermal atrophy	2778	GNAS	-	mim2gene	OMIM:219080
HP:0004334	Dermal atrophy	1289	COL5A1	-	mim2gene	OMIM:130000
HP:0004334	Dermal atrophy	7508	XPC		orphadata	ORPHA:910
HP:0004334	Dermal atrophy	4312	MMP1		orphadata	ORPHA:79408
HP:0004334	Dermal atrophy	2071	ERCC3		orphadata	ORPHA:910
HP:0004334	Dermal atrophy	1281	COL3A1		orphadata	ORPHA:286
HP:0004334	Dermal atrophy	7157	TP53		orphadata	ORPHA:1501
HP:0004334	Dermal atrophy	3918	LAMC2		orphadata	ORPHA:79402
HP:0004334	Dermal atrophy	91252	SLC39A13	-	mim2gene	OMIM:612350
HP:0004334	Dermal atrophy	3914	LAMB3		orphadata	ORPHA:79402
HP:0004334	Dermal atrophy	51750	RTEL1		orphadata	ORPHA:3322
HP:0004334	Dermal atrophy	4088	SMAD3		orphadata	ORPHA:284984
HP:0004334	Dermal atrophy	716	C1S		orphadata	ORPHA:75392
HP:0004334	Dermal atrophy	1281	COL3A1	-	mim2gene	OMIM:130050
HP:0004334	Dermal atrophy	5429	POLH	-	mim2gene	OMIM:278750
HP:0004334	Dermal atrophy	4088	SMAD3	-	mim2gene	OMIM:613795
HP:0004334	Dermal atrophy	55612	FERMT1	-	mim2gene	OMIM:173650
HP:0004336	Myelin outfoldings	6663	SOX10	-	mim2gene	OMIM:609136
HP:0004336	Myelin outfoldings	4747	NEFL	-	mim2gene	OMIM:607734
HP:0004336	Myelin outfoldings	4359	MPZ	-	mim2gene	OMIM:118200
HP:0004336	Myelin outfoldings	5376	PMP22	-	mim2gene	OMIM:118220
HP:0004337	Abnormality of amino acid metabolism	875	CBS		orphadata	ORPHA:394
HP:0004337	Abnormality of amino acid metabolism	2068	ERCC2		orphadata	ORPHA:220295
HP:0004337	Abnormality of amino acid metabolism	2071	ERCC3		orphadata	ORPHA:220295
HP:0004337	Abnormality of amino acid metabolism	2073	ERCC5		orphadata	ORPHA:220295
HP:0004337	Abnormality of amino acid metabolism	55532	SLC30A10		orphadata	ORPHA:309854
HP:0004337	Abnormality of amino acid metabolism	175	AGA		orphadata	ORPHA:93
HP:0004337	Abnormality of amino acid metabolism	2072	ERCC4		orphadata	ORPHA:220295
HP:0004337	Abnormality of amino acid metabolism	6898	TAT		orphadata	ORPHA:28378
HP:0004338	Abnormal circulating aromatic amino acid concentration	6697	SPR	-	mim2gene	OMIM:612716
HP:0004338	Abnormal circulating aromatic amino acid concentration	3242	HPD		orphadata	ORPHA:2118
HP:0004338	Abnormal circulating aromatic amino acid concentration	5053	PAH		orphadata	ORPHA:79254
HP:0004338	Abnormal circulating aromatic amino acid concentration	6898	TAT	-	mim2gene	OMIM:276600
HP:0004338	Abnormal circulating aromatic amino acid concentration	55163	PNPO		orphadata	ORPHA:79096
HP:0004338	Abnormal circulating aromatic amino acid concentration	2184	FAH	-	mim2gene	OMIM:276700
HP:0004338	Abnormal circulating aromatic amino acid concentration	8942	KYNU		orphadata	ORPHA:79155
HP:0004338	Abnormal circulating aromatic amino acid concentration	10841	FTCD	-	mim2gene	OMIM:229100
HP:0004338	Abnormal circulating aromatic amino acid concentration	3242	HPD	-	mim2gene	OMIM:140350
HP:0004338	Abnormal circulating aromatic amino acid concentration	5805	PTS	-	mim2gene	OMIM:261640
HP:0004338	Abnormal circulating aromatic amino acid concentration	10165	SLC25A13		orphadata	ORPHA:247598
HP:0004338	Abnormal circulating aromatic amino acid concentration	5053	PAH	-	mim2gene	OMIM:261600
HP:0004338	Abnormal circulating aromatic amino acid concentration	5860	QDPR	-	mim2gene	OMIM:261630
HP:0004338	Abnormal circulating aromatic amino acid concentration	2643	GCH1	-	mim2gene	OMIM:233910
HP:0004338	Abnormal circulating aromatic amino acid concentration	5092	PCBD1	-	mim2gene	OMIM:264070
HP:0004338	Abnormal circulating aromatic amino acid concentration	3242	HPD	-	mim2gene	OMIM:276710
HP:0004338	Abnormal circulating aromatic amino acid concentration	2643	GCH1	-	mim2gene	OMIM:128230
HP:0004338	Abnormal circulating aromatic amino acid concentration	2643	GCH1		orphadata	ORPHA:98808
HP:0004339	Abnormal circulating sulfur amino acid concentration	191	AHCY	-	mim2gene	OMIM:613752
HP:0004339	Abnormal circulating sulfur amino acid concentration	191	AHCY		orphadata	ORPHA:88618
HP:0004339	Abnormal circulating sulfur amino acid concentration	875	CBS	-	mim2gene	OMIM:236200
HP:0004339	Abnormal circulating sulfur amino acid concentration	4548	MTR	-	mim2gene	OMIM:250940
HP:0004339	Abnormal circulating sulfur amino acid concentration	27249	MMADHC	-	mim2gene	OMIM:277410
HP:0004339	Abnormal circulating sulfur amino acid concentration	27232	GNMT	-	mim2gene	OMIM:606664
HP:0004339	Abnormal circulating sulfur amino acid concentration	4524	MTHFR	-	mim2gene	OMIM:236250
HP:0004339	Abnormal circulating sulfur amino acid concentration	2184	FAH	-	mim2gene	OMIM:276700
HP:0004339	Abnormal circulating sulfur amino acid concentration	132	ADK	-	mim2gene	OMIM:614300
HP:0004339	Abnormal circulating sulfur amino acid concentration	5826	ABCD4	-	mim2gene	OMIM:614857
HP:0004339	Abnormal circulating sulfur amino acid concentration	1491	CTH		orphadata	ORPHA:212
HP:0004339	Abnormal circulating sulfur amino acid concentration	55788	LMBRD1	-	mim2gene	OMIM:277380
HP:0004339	Abnormal circulating sulfur amino acid concentration	25974	MMACHC	-	mim2gene	OMIM:277400
HP:0004339	Abnormal circulating sulfur amino acid concentration	4552	MTRR	-	mim2gene	OMIM:236270
HP:0004339	Abnormal circulating sulfur amino acid concentration	9652	TTC37	-	mim2gene	OMIM:222470
HP:0004339	Abnormal circulating sulfur amino acid concentration	10165	SLC25A13		orphadata	ORPHA:247598
HP:0004339	Abnormal circulating sulfur amino acid concentration	4143	MAT1A	-	mim2gene	OMIM:250850
HP:0004339	Abnormal circulating sulfur amino acid concentration	10165	SLC25A13	-	mim2gene	OMIM:605814
HP:0004339	Abnormal circulating sulfur amino acid concentration	5052	PRDX1	-	mim2gene	OMIM:277400
HP:0004340	Abnormality of vitamin B metabolism	355	FAS		orphadata	ORPHA:3261
HP:0004340	Abnormality of vitamin B metabolism	843	CASP10		orphadata	ORPHA:3261
HP:0004340	Abnormality of vitamin B metabolism	355	FAS		orphadata	ORPHA:3261
HP:0004340	Abnormality of vitamin B metabolism	4548	MTR	-	mim2gene	OMIM:250940
HP:0004340	Abnormality of vitamin B metabolism	27249	MMADHC	-	mim2gene	OMIM:277410
HP:0004340	Abnormality of vitamin B metabolism	5826	ABCD4	-	mim2gene	OMIM:614857
HP:0004340	Abnormality of vitamin B metabolism	7276	TTR	-	mim2gene	OMIM:115430
HP:0004340	Abnormality of vitamin B metabolism	55065	SLC52A1	-	mim2gene	OMIM:615026
HP:0004340	Abnormality of vitamin B metabolism	197322	ACSF3		orphadata	ORPHA:289504
HP:0004340	Abnormality of vitamin B metabolism	4594	MMUT	-	mim2gene	OMIM:251000
HP:0004340	Abnormality of vitamin B metabolism	4552	MTRR	-	mim2gene	OMIM:236270
HP:0004340	Abnormality of vitamin B metabolism	6492	SIM1		orphadata	ORPHA:369873
HP:0004340	Abnormality of vitamin B metabolism	595	CCND1		orphadata	ORPHA:29073
HP:0004340	Abnormality of vitamin B metabolism	4522	MTHFD1	-	mim2gene	OMIM:617780
HP:0004340	Abnormality of vitamin B metabolism	3767	KCNJ11		orphadata	ORPHA:276580
HP:0004340	Abnormality of vitamin B metabolism	81693	AMN	-	mim2gene	OMIM:261100
HP:0004340	Abnormality of vitamin B metabolism	8803	SUCLA2	-	mim2gene	OMIM:612073
HP:0004340	Abnormality of vitamin B metabolism	4552	MTRR		orphadata	ORPHA:2169
HP:0004340	Abnormality of vitamin B metabolism	8838	CCN6		orphadata	ORPHA:1159
HP:0004340	Abnormality of vitamin B metabolism	7351	UCP2		orphadata	ORPHA:276556
HP:0004340	Abnormality of vitamin B metabolism	356	FASLG		orphadata	ORPHA:3261
HP:0004340	Abnormality of vitamin B metabolism	84693	MCEE	-	mim2gene	OMIM:251120
HP:0004340	Abnormality of vitamin B metabolism	3054	HCFC1	-	mim2gene	OMIM:309541
HP:0004340	Abnormality of vitamin B metabolism	10125	RASGRP1		orphadata	ORPHA:3261
HP:0004340	Abnormality of vitamin B metabolism	55788	LMBRD1	-	mim2gene	OMIM:277380
HP:0004340	Abnormality of vitamin B metabolism	25974	MMACHC	-	mim2gene	OMIM:277400
HP:0004340	Abnormality of vitamin B metabolism	8029	CUBN	-	mim2gene	OMIM:261100
HP:0004340	Abnormality of vitamin B metabolism	5580	PRKCD		orphadata	ORPHA:3261
HP:0004340	Abnormality of vitamin B metabolism	2984	GUCY2C	-	mim2gene	OMIM:614616
HP:0004340	Abnormality of vitamin B metabolism	166785	MMAA	-	mim2gene	OMIM:251100
HP:0004340	Abnormality of vitamin B metabolism	6833	ABCC8		orphadata	ORPHA:276575
HP:0004340	Abnormality of vitamin B metabolism	2694	CBLIF	-	mim2gene	OMIM:261000
HP:0004340	Abnormality of vitamin B metabolism	5052	PRDX1	-	mim2gene	OMIM:277400
HP:0004340	Abnormality of vitamin B metabolism	326625	MMAB	-	mim2gene	OMIM:251110
HP:0004341	Abnormality of vitamin B12 metabolism	355	FAS		orphadata	ORPHA:3261
HP:0004341	Abnormality of vitamin B12 metabolism	843	CASP10		orphadata	ORPHA:3261
HP:0004341	Abnormality of vitamin B12 metabolism	355	FAS		orphadata	ORPHA:3261
HP:0004341	Abnormality of vitamin B12 metabolism	4548	MTR	-	mim2gene	OMIM:250940
HP:0004341	Abnormality of vitamin B12 metabolism	27249	MMADHC	-	mim2gene	OMIM:277410
HP:0004341	Abnormality of vitamin B12 metabolism	5826	ABCD4	-	mim2gene	OMIM:614857
HP:0004341	Abnormality of vitamin B12 metabolism	197322	ACSF3		orphadata	ORPHA:289504
HP:0004341	Abnormality of vitamin B12 metabolism	4594	MMUT	-	mim2gene	OMIM:251000
HP:0004341	Abnormality of vitamin B12 metabolism	4552	MTRR	-	mim2gene	OMIM:236270
HP:0004341	Abnormality of vitamin B12 metabolism	595	CCND1		orphadata	ORPHA:29073
HP:0004341	Abnormality of vitamin B12 metabolism	4522	MTHFD1	-	mim2gene	OMIM:617780
HP:0004341	Abnormality of vitamin B12 metabolism	81693	AMN	-	mim2gene	OMIM:261100
HP:0004341	Abnormality of vitamin B12 metabolism	8803	SUCLA2	-	mim2gene	OMIM:612073
HP:0004341	Abnormality of vitamin B12 metabolism	4552	MTRR		orphadata	ORPHA:2169
HP:0004341	Abnormality of vitamin B12 metabolism	8838	CCN6		orphadata	ORPHA:1159
HP:0004341	Abnormality of vitamin B12 metabolism	356	FASLG		orphadata	ORPHA:3261
HP:0004341	Abnormality of vitamin B12 metabolism	84693	MCEE	-	mim2gene	OMIM:251120
HP:0004341	Abnormality of vitamin B12 metabolism	3054	HCFC1	-	mim2gene	OMIM:309541
HP:0004341	Abnormality of vitamin B12 metabolism	10125	RASGRP1		orphadata	ORPHA:3261
HP:0004341	Abnormality of vitamin B12 metabolism	55788	LMBRD1	-	mim2gene	OMIM:277380
HP:0004341	Abnormality of vitamin B12 metabolism	25974	MMACHC	-	mim2gene	OMIM:277400
HP:0004341	Abnormality of vitamin B12 metabolism	8029	CUBN	-	mim2gene	OMIM:261100
HP:0004341	Abnormality of vitamin B12 metabolism	5580	PRKCD		orphadata	ORPHA:3261
HP:0004341	Abnormality of vitamin B12 metabolism	2984	GUCY2C	-	mim2gene	OMIM:614616
HP:0004341	Abnormality of vitamin B12 metabolism	166785	MMAA	-	mim2gene	OMIM:251100
HP:0004341	Abnormality of vitamin B12 metabolism	2694	CBLIF	-	mim2gene	OMIM:261000
HP:0004341	Abnormality of vitamin B12 metabolism	5052	PRDX1	-	mim2gene	OMIM:277400
HP:0004341	Abnormality of vitamin B12 metabolism	326625	MMAB	-	mim2gene	OMIM:251110
HP:0004342	Abnormality of galactoside metabolism	2720	GLB1	-	mim2gene	OMIM:253010
HP:0004342	Abnormality of galactoside metabolism	5476	CTSA	-	mim2gene	OMIM:256540
HP:0004342	Abnormality of galactoside metabolism	2720	GLB1	-	mim2gene	OMIM:230650
HP:0004342	Abnormality of galactoside metabolism	2720	GLB1	-	mim2gene	OMIM:230500
HP:0004342	Abnormality of galactoside metabolism	2720	GLB1	-	mim2gene	OMIM:230600
HP:0004343	Abnormality of glycosphingolipid metabolism	5660	PSAP		orphadata	ORPHA:309271
HP:0004343	Abnormality of glycosphingolipid metabolism	5660	PSAP		orphadata	ORPHA:309263
HP:0004343	Abnormality of glycosphingolipid metabolism	410	ARSA		orphadata	ORPHA:309263
HP:0004343	Abnormality of glycosphingolipid metabolism	3074	HEXB	-	mim2gene	OMIM:268800
HP:0004343	Abnormality of glycosphingolipid metabolism	3073	HEXA	-	mim2gene	OMIM:272800
HP:0004343	Abnormality of glycosphingolipid metabolism	5660	PSAP	-	mim2gene	OMIM:611721
HP:0004343	Abnormality of glycosphingolipid metabolism	410	ARSA		orphadata	ORPHA:309271
HP:0004343	Abnormality of glycosphingolipid metabolism	57192	MCOLN1		orphadata	ORPHA:578
HP:0004343	Abnormality of glycosphingolipid metabolism	2760	GM2A	-	mim2gene	OMIM:272750
HP:0004343	Abnormality of glycosphingolipid metabolism	57192	MCOLN1	-	mim2gene	OMIM:252650
HP:0004345	Ganglioside accumulation	3073	HEXA	-	mim2gene	OMIM:272800
HP:0004345	Ganglioside accumulation	57192	MCOLN1		orphadata	ORPHA:578
HP:0004345	Ganglioside accumulation	2760	GM2A	-	mim2gene	OMIM:272750
HP:0004345	Ganglioside accumulation	57192	MCOLN1	-	mim2gene	OMIM:252650
HP:0004347	Weakness of muscles of respiration	64419	MTMR14		orphadata	ORPHA:169189
HP:0004347	Weakness of muscles of respiration	1073	CFL2	-	mim2gene	OMIM:610687
HP:0004347	Weakness of muscles of respiration	4568	TRNL2		orphadata	ORPHA:663
HP:0004347	Weakness of muscles of respiration	779	CACNA1S		orphadata	ORPHA:79102
HP:0004347	Weakness of muscles of respiration	1292	COL6A2	-	mim2gene	OMIM:158810
HP:0004347	Weakness of muscles of respiration	9131	AIFM1	-	mim2gene	OMIM:300816
HP:0004347	Weakness of muscles of respiration	7084	TK2		orphadata	ORPHA:254875
HP:0004347	Weakness of muscles of respiration	6261	RYR1		orphadata	ORPHA:597
HP:0004347	Weakness of muscles of respiration	246243	RNASEH1		orphadata	ORPHA:329336
HP:0004347	Weakness of muscles of respiration	6261	RYR1	-	mim2gene	OMIM:255310
HP:0004347	Weakness of muscles of respiration	2548	GAA	-	mim2gene	OMIM:232300
HP:0004347	Weakness of muscles of respiration	84334	COA8		orphadata	ORPHA:436271
HP:0004347	Weakness of muscles of respiration	84334	COA8	-	mim2gene	OMIM:220110
HP:0004347	Weakness of muscles of respiration	7169	TPM2	-	mim2gene	OMIM:255310
HP:0004347	Weakness of muscles of respiration	6616	SNAP25		orphadata	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	84665	MYPN		orphadata	ORPHA:171439
HP:0004347	Weakness of muscles of respiration	1145	CHRNE	-	mim2gene	OMIM:605809
HP:0004347	Weakness of muscles of respiration	4359	MPZ	-	mim2gene	OMIM:618184
HP:0004347	Weakness of muscles of respiration	9782	MATR3		orphadata	ORPHA:600
HP:0004347	Weakness of muscles of respiration	4567	TRNL1		orphadata	ORPHA:663
HP:0004347	Weakness of muscles of respiration	25978	CHMP2B	-	mim2gene	OMIM:614696
HP:0004347	Weakness of muscles of respiration	29967	LRP12	-	mim2gene	OMIM:164310
HP:0004347	Weakness of muscles of respiration	1293	COL6A3	-	mim2gene	OMIM:254090
HP:0004347	Weakness of muscles of respiration	1410	CRYAB	-	mim2gene	OMIM:608810
HP:0004347	Weakness of muscles of respiration	2273	FHL1	-	mim2gene	OMIM:300718
HP:0004347	Weakness of muscles of respiration	51244	CCDC174	-	mim2gene	OMIM:616816
HP:0004347	Weakness of muscles of respiration	6261	RYR1		orphadata	ORPHA:169189
HP:0004347	Weakness of muscles of respiration	80208	SPG11	-	mim2gene	OMIM:602099
HP:0004347	Weakness of muscles of respiration	23299	BICD2	-	mim2gene	OMIM:618291
HP:0004347	Weakness of muscles of respiration	51204	TACO1	-	mim2gene	OMIM:220110
HP:0004347	Weakness of muscles of respiration	6261	RYR1		orphadata	ORPHA:424107
HP:0004347	Weakness of muscles of respiration	23435	TARDBP	-	mim2gene	OMIM:612069
HP:0004347	Weakness of muscles of respiration	2733	GLE1	-	mim2gene	OMIM:611890
HP:0004347	Weakness of muscles of respiration	4649	MYO9A		orphadata	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	2010	EMD		orphadata	ORPHA:98863
HP:0004347	Weakness of muscles of respiration	375790	AGRN		orphadata	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	4000	LMNA		orphadata	ORPHA:98853
HP:0004347	Weakness of muscles of respiration	6572	SLC18A3		orphadata	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	4570	TRNN	-	mim2gene	OMIM:220110
HP:0004347	Weakness of muscles of respiration	57449	PLEKHG5	-	mim2gene	OMIM:611067
HP:0004347	Weakness of muscles of respiration	291	SLC25A4	-	mim2gene	OMIM:617184
HP:0004347	Weakness of muscles of respiration	274	BIN1		orphadata	ORPHA:169189
HP:0004347	Weakness of muscles of respiration	4570	TRNN		orphadata	ORPHA:663
HP:0004347	Weakness of muscles of respiration	23345	SYNE1		orphadata	ORPHA:88644
HP:0004347	Weakness of muscles of respiration	23345	SYNE1		orphadata	ORPHA:98853
HP:0004347	Weakness of muscles of respiration	3145	HMBS	-	mim2gene	OMIM:176000
HP:0004347	Weakness of muscles of respiration	3178	HNRNPA1		orphadata	ORPHA:52430
HP:0004347	Weakness of muscles of respiration	7170	TPM3		orphadata	ORPHA:171439
HP:0004347	Weakness of muscles of respiration	23534	TNPO3	-	mim2gene	OMIM:608423
HP:0004347	Weakness of muscles of respiration	1785	DNM2		orphadata	ORPHA:169189
HP:0004347	Weakness of muscles of respiration	5428	POLG	-	mim2gene	OMIM:258450
HP:0004347	Weakness of muscles of respiration	1103	CHAT		orphadata	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	57190	SELENON		orphadata	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	22868	FASTKD2	question	mim2gene	OMIM:220110
HP:0004347	Weakness of muscles of respiration	210	ALAD	-	mim2gene	OMIM:612740
HP:0004347	Weakness of muscles of respiration	7138	TNNT1		orphadata	ORPHA:98902
HP:0004347	Weakness of muscles of respiration	1340	COX6B1	-	mim2gene	OMIM:220110
HP:0004347	Weakness of muscles of respiration	1103	CHAT	-	mim2gene	OMIM:254210
HP:0004347	Weakness of muscles of respiration	1272	CNTN1	question	mim2gene	OMIM:612540
HP:0004347	Weakness of muscles of respiration	57190	SELENON		orphadata	ORPHA:324604
HP:0004347	Weakness of muscles of respiration	4574	TRNS1	-	mim2gene	OMIM:220110
HP:0004347	Weakness of muscles of respiration	100134444	KCNJ18		orphadata	ORPHA:79102
HP:0004347	Weakness of muscles of respiration	1410	CRYAB		orphadata	ORPHA:399058
HP:0004347	Weakness of muscles of respiration	3181	HNRNPA2B1		orphadata	ORPHA:52430
HP:0004347	Weakness of muscles of respiration	7317	UBA1	-	mim2gene	OMIM:301830
HP:0004347	Weakness of muscles of respiration	50484	RRM2B		orphadata	ORPHA:329336
HP:0004347	Weakness of muscles of respiration	6843	VAMP1		orphadata	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	7273	TTN		orphadata	ORPHA:178464
HP:0004347	Weakness of muscles of respiration	1351	COX8A	question	mim2gene	OMIM:220110
HP:0004347	Weakness of muscles of respiration	9782	MATR3	-	mim2gene	OMIM:606070
HP:0004347	Weakness of muscles of respiration	779	CACNA1S		orphadata	ORPHA:681
HP:0004347	Weakness of muscles of respiration	58	ACTA1		orphadata	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	274	BIN1	-	mim2gene	OMIM:255200
HP:0004347	Weakness of muscles of respiration	79188	TMEM43		orphadata	ORPHA:98853
HP:0004347	Weakness of muscles of respiration	57190	SELENON	-	mim2gene	OMIM:255310
HP:0004347	Weakness of muscles of respiration	7084	TK2	-	mim2gene	OMIM:609560
HP:0004347	Weakness of muscles of respiration	6576	SLC25A1		orphadata	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	4632	MYL1	-	mim2gene	OMIM:618414
HP:0004347	Weakness of muscles of respiration	285489	DOK7	-	mim2gene	OMIM:254300
HP:0004347	Weakness of muscles of respiration	9499	MYOT		orphadata	ORPHA:266
HP:0004347	Weakness of muscles of respiration	1291	COL6A1	-	mim2gene	OMIM:254090
HP:0004347	Weakness of muscles of respiration	4703	NEB		orphadata	ORPHA:171439
HP:0004347	Weakness of muscles of respiration	1371	CPOX	-	mim2gene	OMIM:121300
HP:0004347	Weakness of muscles of respiration	9325	TRIP4		orphadata	ORPHA:486815
HP:0004347	Weakness of muscles of respiration	2273	FHL1		orphadata	ORPHA:98863
HP:0004347	Weakness of muscles of respiration	8803	SUCLA2	-	mim2gene	OMIM:612073
HP:0004347	Weakness of muscles of respiration	84987	COX14	question	mim2gene	OMIM:220110
HP:0004347	Weakness of muscles of respiration	10008	KCNE3		orphadata	ORPHA:681
HP:0004347	Weakness of muscles of respiration	4618	MYF6		orphadata	ORPHA:169189
HP:0004347	Weakness of muscles of respiration	9325	TRIP4	question	mim2gene	OMIM:617066
HP:0004347	Weakness of muscles of respiration	1293	COL6A3	-	mim2gene	OMIM:158810
HP:0004347	Weakness of muscles of respiration	7170	TPM3		orphadata	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	9927	MFN2	-	mim2gene	OMIM:617087
HP:0004347	Weakness of muscles of respiration	92667	MGME1		orphadata	ORPHA:352447
HP:0004347	Weakness of muscles of respiration	2066	ERBB4	-	mim2gene	OMIM:615515
HP:0004347	Weakness of muscles of respiration	4633	MYL2		orphadata	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	1292	COL6A2	-	mim2gene	OMIM:254090
HP:0004347	Weakness of muscles of respiration	4625	MYH7	-	mim2gene	OMIM:255310
HP:0004347	Weakness of muscles of respiration	100131801	PET100	-	mim2gene	OMIM:220110
HP:0004347	Weakness of muscles of respiration	84876	ORAI1	-	mim2gene	OMIM:612782
HP:0004347	Weakness of muscles of respiration	58	ACTA1	-	mim2gene	OMIM:161800
HP:0004347	Weakness of muscles of respiration	1305	COL13A1		orphadata	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	84197	POMK	-	mim2gene	OMIM:615249
HP:0004347	Weakness of muscles of respiration	1291	COL6A1	-	mim2gene	OMIM:158810
HP:0004347	Weakness of muscles of respiration	427	ASAH1	-	mim2gene	OMIM:159950
HP:0004347	Weakness of muscles of respiration	1371	CPOX		orphadata	ORPHA:79273
HP:0004347	Weakness of muscles of respiration	6329	SCN4A		orphadata	ORPHA:681
HP:0004347	Weakness of muscles of respiration	56203	LMOD3	-	mim2gene	OMIM:616165
HP:0004347	Weakness of muscles of respiration	116228	COX20	-	mim2gene	OMIM:220110
HP:0004347	Weakness of muscles of respiration	6341	SCO1	-	mim2gene	OMIM:220110
HP:0004347	Weakness of muscles of respiration	7167	TPI1	-	mim2gene	OMIM:615512
HP:0004347	Weakness of muscles of respiration	2273	FHL1	-	mim2gene	OMIM:300717
HP:0004347	Weakness of muscles of respiration	127833	SYT2		orphadata	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	10324	KLHL41		orphadata	ORPHA:171439
HP:0004347	Weakness of muscles of respiration	4625	MYH7		orphadata	ORPHA:324604
HP:0004347	Weakness of muscles of respiration	58	ACTA1	-	mim2gene	OMIM:255310
HP:0004347	Weakness of muscles of respiration	1674	DES		orphadata	ORPHA:98909
HP:0004347	Weakness of muscles of respiration	1352	COX10	-	mim2gene	OMIM:220110
HP:0004347	Weakness of muscles of respiration	7170	TPM3	-	mim2gene	OMIM:255310
HP:0004347	Weakness of muscles of respiration	4000	LMNA	-	mim2gene	OMIM:613205
HP:0004347	Weakness of muscles of respiration	58	ACTA1		orphadata	ORPHA:171439
HP:0004347	Weakness of muscles of respiration	51776	MAP3K20		orphadata	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	51067	YARS2	-	mim2gene	OMIM:613561
HP:0004347	Weakness of muscles of respiration	1145	CHRNE	-	mim2gene	OMIM:608931
HP:0004347	Weakness of muscles of respiration	2556	GABRA3		orphadata	ORPHA:79102
HP:0004347	Weakness of muscles of respiration	7169	TPM2		orphadata	ORPHA:171439
HP:0004347	Weakness of muscles of respiration	1134	CHRNA1	-	mim2gene	OMIM:601462
HP:0004347	Weakness of muscles of respiration	2673	GFPT1	-	mim2gene	OMIM:608931
HP:0004347	Weakness of muscles of respiration	23224	SYNE2		orphadata	ORPHA:98853
HP:0004347	Weakness of muscles of respiration	4703	NEB	-	mim2gene	OMIM:256030
HP:0004347	Weakness of muscles of respiration	7273	TTN		orphadata	ORPHA:324604
HP:0004347	Weakness of muscles of respiration	3908	LAMA2	-	mim2gene	OMIM:607855
HP:0004347	Weakness of muscles of respiration	7169	TPM2		orphadata	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	4574	TRNS1		orphadata	ORPHA:663
HP:0004347	Weakness of muscles of respiration	8292	COLQ	-	mim2gene	OMIM:603034
HP:0004347	Weakness of muscles of respiration	7415	VCP		orphadata	ORPHA:52430
HP:0004347	Weakness of muscles of respiration	9200	HACD1		orphadata	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	390594	KBTBD13		orphadata	ORPHA:171439
HP:0004347	Weakness of muscles of respiration	60482	SLC5A7		orphadata	ORPHA:98914
HP:0004347	Weakness of muscles of respiration	3679	ITGA7		orphadata	ORPHA:2020
HP:0004347	Weakness of muscles of respiration	1134	CHRNA1	-	mim2gene	OMIM:608930
HP:0004347	Weakness of muscles of respiration	1674	DES	-	mim2gene	OMIM:601419
HP:0004348	Abnormality of bone mineral density	1583	CYP11A1		orphadata	ORPHA:289548
HP:0004348	Abnormality of bone mineral density	404672	GTF2H5		orphadata	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	79633	FAT4		orphadata	ORPHA:314679
HP:0004348	Abnormality of bone mineral density	171568	POLR3H		orphadata	ORPHA:243
HP:0004348	Abnormality of bone mineral density	51124	IER3IP1	-	mim2gene	OMIM:614231
HP:0004348	Abnormality of bone mineral density	92344	GORAB	-	mim2gene	OMIM:231070
HP:0004348	Abnormality of bone mineral density	8792	TNFRSF11A	-	mim2gene	OMIM:612301
HP:0004348	Abnormality of bone mineral density	5728	PTEN		orphadata	ORPHA:137608
HP:0004348	Abnormality of bone mineral density	1436	CSF1R	-	mim2gene	OMIM:618476
HP:0004348	Abnormality of bone mineral density	124583	CANT1	-	mim2gene	OMIM:251450
HP:0004348	Abnormality of bone mineral density	120227	CYP2R1		orphadata	ORPHA:289157
HP:0004348	Abnormality of bone mineral density	5573	PRKAR1A	-	mim2gene	OMIM:610489
HP:0004348	Abnormality of bone mineral density	367	AR		orphadata	ORPHA:90797
HP:0004348	Abnormality of bone mineral density	83706	FERMT3	-	mim2gene	OMIM:612840
HP:0004348	Abnormality of bone mineral density	91147	TMEM67	question	mim2gene	OMIM:602152
HP:0004348	Abnormality of bone mineral density	1593	CYP27A1	-	mim2gene	OMIM:213700
HP:0004348	Abnormality of bone mineral density	6662	SOX9		orphadata	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	9401	RECQL4	-	mim2gene	OMIM:268400
HP:0004348	Abnormality of bone mineral density	7227	TRPS1	-	mim2gene	OMIM:190351
HP:0004348	Abnormality of bone mineral density	1280	COL2A1	-	mim2gene	OMIM:608805
HP:0004348	Abnormality of bone mineral density	10555	AGPAT2		orphadata	ORPHA:528
HP:0004348	Abnormality of bone mineral density	5034	P4HB	-	mim2gene	OMIM:112240
HP:0004348	Abnormality of bone mineral density	80169	CTC1	-	mim2gene	OMIM:612199
HP:0004348	Abnormality of bone mineral density	4784	NFIX		orphadata	ORPHA:561
HP:0004348	Abnormality of bone mineral density	4313	MMP2		orphadata	ORPHA:371428
HP:0004348	Abnormality of bone mineral density	2626	GATA4		orphadata	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	79983	POF1B	question	mim2gene	OMIM:300604
HP:0004348	Abnormality of bone mineral density	5450	POU2AF1		orphadata	ORPHA:186
HP:0004348	Abnormality of bone mineral density	3730	ANOS1		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	10806	SDCCAG8		orphadata	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	118429	ANTXR2		orphadata	ORPHA:2176
HP:0004348	Abnormality of bone mineral density	5193	PEX12	-	mim2gene	OMIM:266510
HP:0004348	Abnormality of bone mineral density	6774	STAT3	-	mim2gene	OMIM:147060
HP:0004348	Abnormality of bone mineral density	56172	ANKH	-	mim2gene	OMIM:123000
HP:0004348	Abnormality of bone mineral density	63901	FAM111A		orphadata	ORPHA:93325
HP:0004348	Abnormality of bone mineral density	7015	TERT	susceptibility	mim2gene	OMIM:613989
HP:0004348	Abnormality of bone mineral density	7681	MKRN3	-	mim2gene	OMIM:176270
HP:0004348	Abnormality of bone mineral density	3043	HBB		orphadata	ORPHA:232
HP:0004348	Abnormality of bone mineral density	55505	NOP10	-	mim2gene	OMIM:224230
HP:0004348	Abnormality of bone mineral density	23767	FLRT3		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	4041	LRP5		orphadata	ORPHA:178377
HP:0004348	Abnormality of bone mineral density	79633	FAT4	-	mim2gene	OMIM:615546
HP:0004348	Abnormality of bone mineral density	4041	LRP5	-	mim2gene	OMIM:601813
HP:0004348	Abnormality of bone mineral density	10269	ZMPSTE24		orphadata	ORPHA:1662
HP:0004348	Abnormality of bone mineral density	2516	NR5A1		orphadata	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	10892	MALT1	-	mim2gene	OMIM:615468
HP:0004348	Abnormality of bone mineral density	165	AEBP1	-	mim2gene	OMIM:618000
HP:0004348	Abnormality of bone mineral density	760	CA2	-	mim2gene	OMIM:259730
HP:0004348	Abnormality of bone mineral density	406932	MIR140		orphadata	ORPHA:163649
HP:0004348	Abnormality of bone mineral density	9150	CTDP1		orphadata	ORPHA:48431
HP:0004348	Abnormality of bone mineral density	3479	IGF1		orphadata	ORPHA:73272
HP:0004348	Abnormality of bone mineral density	55768	NGLY1		orphadata	ORPHA:404454
HP:0004348	Abnormality of bone mineral density	7012	TERC	-	mim2gene	OMIM:127550
HP:0004348	Abnormality of bone mineral density	2072	ERCC4		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	5373	PMM2	-	mim2gene	OMIM:212065
HP:0004348	Abnormality of bone mineral density	4882	NPR2	-	mim2gene	OMIM:615923
HP:0004348	Abnormality of bone mineral density	860	RUNX2	-	mim2gene	OMIM:119600
HP:0004348	Abnormality of bone mineral density	55033	FKBP14		orphadata	ORPHA:300179
HP:0004348	Abnormality of bone mineral density	6663	SOX10		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	4952	OCRL	-	mim2gene	OMIM:309000
HP:0004348	Abnormality of bone mineral density	50940	PDE11A	-	mim2gene	OMIM:610475
HP:0004348	Abnormality of bone mineral density	6866	TAC3		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	3081	HGD		orphadata	ORPHA:56
HP:0004348	Abnormality of bone mineral density	10312	TCIRG1		orphadata	ORPHA:210110
HP:0004348	Abnormality of bone mineral density	2629	GBA		orphadata	ORPHA:77259
HP:0004348	Abnormality of bone mineral density	285590	SH3PXD2B	-	mim2gene	OMIM:249420
HP:0004348	Abnormality of bone mineral density	2697	GJA1		orphadata	ORPHA:1522
HP:0004348	Abnormality of bone mineral density	81848	SPRY4		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	80270	HSD3B7	-	mim2gene	OMIM:607765
HP:0004348	Abnormality of bone mineral density	1294	COL7A1		orphadata	ORPHA:79408
HP:0004348	Abnormality of bone mineral density	875	CBS	-	mim2gene	OMIM:236200
HP:0004348	Abnormality of bone mineral density	4041	LRP5	-	mim2gene	OMIM:144750
HP:0004348	Abnormality of bone mineral density	6905	TBCE	-	mim2gene	OMIM:244460
HP:0004348	Abnormality of bone mineral density	90993	CREB3L1	-	mim2gene	OMIM:616229
HP:0004348	Abnormality of bone mineral density	4041	LRP5	susceptibility	mim2gene	OMIM:166710
HP:0004348	Abnormality of bone mineral density	139285	AMER1		orphadata	ORPHA:2780
HP:0004348	Abnormality of bone mineral density	9131	AIFM1		orphadata	ORPHA:83629
HP:0004348	Abnormality of bone mineral density	9842	PLEKHM1	question	mim2gene	OMIM:611497
HP:0004348	Abnormality of bone mineral density	2188	FANCF		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	6424	SFRP4	-	mim2gene	OMIM:265900
HP:0004348	Abnormality of bone mineral density	26277	TINF2	-	mim2gene	OMIM:127550
HP:0004348	Abnormality of bone mineral density	3170	FOXA2		orphadata	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	1962	EHHADH	question	mim2gene	OMIM:615605
HP:0004348	Abnormality of bone mineral density	1718	DHCR24	-	mim2gene	OMIM:602398
HP:0004348	Abnormality of bone mineral density	7305	TYROBP		orphadata	ORPHA:2770
HP:0004348	Abnormality of bone mineral density	9509	ADAMTS2	-	mim2gene	OMIM:225410
HP:0004348	Abnormality of bone mineral density	261734	NPHP4		orphadata	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	3479	IGF1	-	mim2gene	OMIM:608747
HP:0004348	Abnormality of bone mineral density	2492	FSHR	-	mim2gene	OMIM:233300
HP:0004348	Abnormality of bone mineral density	57520	HECW2	-	mim2gene	OMIM:617268
HP:0004348	Abnormality of bone mineral density	2201	FBN2	-	mim2gene	OMIM:121050
HP:0004348	Abnormality of bone mineral density	5832	ALDH18A1	-	mim2gene	OMIM:616603
HP:0004348	Abnormality of bone mineral density	9791	PTDSS1	-	mim2gene	OMIM:151050
HP:0004348	Abnormality of bone mineral density	5351	PLOD1	-	mim2gene	OMIM:225400
HP:0004348	Abnormality of bone mineral density	23414	ZFPM2		orphadata	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	9056	SLC7A7		orphadata	ORPHA:470
HP:0004348	Abnormality of bone mineral density	2697	GJA1	-	mim2gene	OMIM:218400
HP:0004348	Abnormality of bone mineral density	10484	SEC23A	-	mim2gene	OMIM:607812
HP:0004348	Abnormality of bone mineral density	6578	SLCO2A1		orphadata	ORPHA:2796
HP:0004348	Abnormality of bone mineral density	79158	GNPTAB	-	mim2gene	OMIM:252500
HP:0004348	Abnormality of bone mineral density	51085	MLXIPL	-	mim2gene	OMIM:194050
HP:0004348	Abnormality of bone mineral density	50964	SOST	-	mim2gene	OMIM:269500
HP:0004348	Abnormality of bone mineral density	673	BRAF	-	mim2gene	OMIM:115150
HP:0004348	Abnormality of bone mineral density	64072	CDH23		orphadata	ORPHA:91347
HP:0004348	Abnormality of bone mineral density	7461	CLIP2		orphadata	ORPHA:904
HP:0004348	Abnormality of bone mineral density	650	BMP2	susceptibility; modifier	mim2gene	OMIM:235200
HP:0004348	Abnormality of bone mineral density	8733	GPAA1		orphadata	ORPHA:529665
HP:0004348	Abnormality of bone mineral density	1718	DHCR24		orphadata	ORPHA:35107
HP:0004348	Abnormality of bone mineral density	89780	WNT3A		orphadata	ORPHA:85193
HP:0004348	Abnormality of bone mineral density	1184	CLCN5	-	mim2gene	OMIM:300554
HP:0004348	Abnormality of bone mineral density	1278	COL1A2	-	mim2gene	OMIM:259420
HP:0004348	Abnormality of bone mineral density	60675	PROK2		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	11107	PRDM5		orphadata	ORPHA:90354
HP:0004348	Abnormality of bone mineral density	80184	CEP290		orphadata	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	5167	ENPP1	-	mim2gene	OMIM:208000
HP:0004348	Abnormality of bone mineral density	8572	PDLIM4	susceptibility	mim2gene	OMIM:166710
HP:0004348	Abnormality of bone mineral density	6609	SMPD1		orphadata	ORPHA:77293
HP:0004348	Abnormality of bone mineral density	2798	GNRHR		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	84634	KISS1R		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	9394	HS6ST1		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	89970	RSPRY1	-	mim2gene	OMIM:616723
HP:0004348	Abnormality of bone mineral density	55275	VPS53	-	mim2gene	OMIM:615851
HP:0004348	Abnormality of bone mineral density	4869	NPM1		orphadata	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	547	KIF1A		orphadata	ORPHA:970
HP:0004348	Abnormality of bone mineral density	22930	RAB3GAP1	-	mim2gene	OMIM:600118
HP:0004348	Abnormality of bone mineral density	23592	LEMD3		orphadata	ORPHA:1306
HP:0004348	Abnormality of bone mineral density	26608	TBL2		orphadata	ORPHA:904
HP:0004348	Abnormality of bone mineral density	58524	DMRT3		orphadata	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	860	RUNX2		orphadata	ORPHA:1452
HP:0004348	Abnormality of bone mineral density	3845	KRAS	-	mim2gene	OMIM:163200
HP:0004348	Abnormality of bone mineral density	9049	AIP		orphadata	ORPHA:2965
HP:0004348	Abnormality of bone mineral density	57817	HAMP		orphadata	ORPHA:79230
HP:0004348	Abnormality of bone mineral density	112752	IFT43		orphadata	ORPHA:1515
HP:0004348	Abnormality of bone mineral density	80067	DCAF17		orphadata	ORPHA:3464
HP:0004348	Abnormality of bone mineral density	538	ATP7A	-	mim2gene	OMIM:309400
HP:0004348	Abnormality of bone mineral density	338433	SNORD115-1	-	mim2gene	OMIM:176270
HP:0004348	Abnormality of bone mineral density	26503	SLC17A5	-	mim2gene	OMIM:269920
HP:0004348	Abnormality of bone mineral density	2184	FAH	-	mim2gene	OMIM:276700
HP:0004348	Abnormality of bone mineral density	6689	SPIB		orphadata	ORPHA:186
HP:0004348	Abnormality of bone mineral density	3339	HSPG2	-	mim2gene	OMIM:255800
HP:0004348	Abnormality of bone mineral density	1186	CLCN7		orphadata	ORPHA:53
HP:0004348	Abnormality of bone mineral density	4485	MST1		orphadata	ORPHA:171
HP:0004348	Abnormality of bone mineral density	2189	FANCG		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	7471	WNT1		orphadata	ORPHA:85193
HP:0004348	Abnormality of bone mineral density	595	CCND1		orphadata	ORPHA:29073
HP:0004348	Abnormality of bone mineral density	134218	DNAJC21	-	mim2gene	OMIM:617052
HP:0004348	Abnormality of bone mineral density	55764	IFT122		orphadata	ORPHA:1515
HP:0004348	Abnormality of bone mineral density	2588	GALNS	-	mim2gene	OMIM:253000
HP:0004348	Abnormality of bone mineral density	79798	ARMC5	-	mim2gene	OMIM:615954
HP:0004348	Abnormality of bone mineral density	4893	NRAS	-	mim2gene	OMIM:163200
HP:0004348	Abnormality of bone mineral density	91252	SLC39A13		orphadata	ORPHA:157965
HP:0004348	Abnormality of bone mineral density	2778	GNAS	-	mim2gene	OMIM:612462
HP:0004348	Abnormality of bone mineral density	3594	IL12RB1		orphadata	ORPHA:186
HP:0004348	Abnormality of bone mineral density	79258	MMEL1		orphadata	ORPHA:186
HP:0004348	Abnormality of bone mineral density	4312	MMP1		orphadata	ORPHA:79408
HP:0004348	Abnormality of bone mineral density	8822	FGF17		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	56945	MRPS22		orphadata	ORPHA:243
HP:0004348	Abnormality of bone mineral density	760	CA2		orphadata	ORPHA:2785
HP:0004348	Abnormality of bone mineral density	3295	HSD17B4	-	mim2gene	OMIM:261515
HP:0004348	Abnormality of bone mineral density	4088	SMAD3		orphadata	ORPHA:284984
HP:0004348	Abnormality of bone mineral density	1278	COL1A2	-	mim2gene	OMIM:166220
HP:0004348	Abnormality of bone mineral density	8924	HERC2	-	mim2gene	OMIM:176270
HP:0004348	Abnormality of bone mineral density	3977	LIFR		orphadata	ORPHA:3206
HP:0004348	Abnormality of bone mineral density	9790	BMS1		orphadata	ORPHA:1114
HP:0004348	Abnormality of bone mineral density	1588	CYP19A1		orphadata	ORPHA:91
HP:0004348	Abnormality of bone mineral density	7421	VDR		orphadata	ORPHA:93160
HP:0004348	Abnormality of bone mineral density	51741	WWOX		orphadata	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	1528	CYB5A		orphadata	ORPHA:90796
HP:0004348	Abnormality of bone mineral density	5339	PLEC		orphadata	ORPHA:1114
HP:0004348	Abnormality of bone mineral density	9056	SLC7A7	-	mim2gene	OMIM:222700
HP:0004348	Abnormality of bone mineral density	2969	GTF2I		orphadata	ORPHA:904
HP:0004348	Abnormality of bone mineral density	55764	IFT122	-	mim2gene	OMIM:218330
HP:0004348	Abnormality of bone mineral density	4982	TNFRSF11B		orphadata	ORPHA:2801
HP:0004348	Abnormality of bone mineral density	8091	HMGA2		orphadata	ORPHA:94063
HP:0004348	Abnormality of bone mineral density	6870	TACR3		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	4247	MGAT2	-	mim2gene	OMIM:212066
HP:0004348	Abnormality of bone mineral density	60681	FKBP10		orphadata	ORPHA:2771
HP:0004348	Abnormality of bone mineral density	8726	EED	-	mim2gene	OMIM:617561
HP:0004348	Abnormality of bone mineral density	1747	DLX3		orphadata	ORPHA:3352
HP:0004348	Abnormality of bone mineral density	55699	IARS2	question	mim2gene	OMIM:616007
HP:0004348	Abnormality of bone mineral density	3077	HFE		orphadata	ORPHA:465508
HP:0004348	Abnormality of bone mineral density	4041	LRP5	-	mim2gene	OMIM:259770
HP:0004348	Abnormality of bone mineral density	56975	FAM20C	-	mim2gene	OMIM:259775
HP:0004348	Abnormality of bone mineral density	3914	LAMB3		orphadata	ORPHA:79404
HP:0004348	Abnormality of bone mineral density	5626	PROP1		orphadata	ORPHA:90695
HP:0004348	Abnormality of bone mineral density	136647	MPLKIP		orphadata	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	846	CASR		orphadata	ORPHA:428
HP:0004348	Abnormality of bone mineral density	2353	FOS		orphadata	ORPHA:528
HP:0004348	Abnormality of bone mineral density	9049	AIP	-	mim2gene	OMIM:219090
HP:0004348	Abnormality of bone mineral density	9935	MAFB	-	mim2gene	OMIM:166300
HP:0004348	Abnormality of bone mineral density	3172	HNF4A	-	mim2gene	OMIM:616026
HP:0004348	Abnormality of bone mineral density	23742	NPAP1	-	mim2gene	OMIM:176270
HP:0004348	Abnormality of bone mineral density	1277	COL1A1	susceptibility; QTL 1	mim2gene	OMIM:166710
HP:0004348	Abnormality of bone mineral density	50628	GEMIN4	-	mim2gene	OMIM:617913
HP:0004348	Abnormality of bone mineral density	1848	DUSP6		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	6729	SRP54		orphadata	ORPHA:486
HP:0004348	Abnormality of bone mineral density	1586	CYP17A1		orphadata	ORPHA:90793
HP:0004348	Abnormality of bone mineral density	6778	STAT6		orphadata	ORPHA:2126
HP:0004348	Abnormality of bone mineral density	9321	TRIP11	-	mim2gene	OMIM:184260
HP:0004348	Abnormality of bone mineral density	55768	NGLY1	-	mim2gene	OMIM:615273
HP:0004348	Abnormality of bone mineral density	2778	GNAS		orphadata	ORPHA:562
HP:0004348	Abnormality of bone mineral density	4796	TONSL		orphadata	ORPHA:93357
HP:0004348	Abnormality of bone mineral density	57122	NUP107		orphadata	ORPHA:243
HP:0004348	Abnormality of bone mineral density	4221	MEN1		orphadata	ORPHA:99879
HP:0004348	Abnormality of bone mineral density	5428	POLG		orphadata	ORPHA:254892
HP:0004348	Abnormality of bone mineral density	857	CAV1		orphadata	ORPHA:528
HP:0004348	Abnormality of bone mineral density	1513	CTSK	-	mim2gene	OMIM:265800
HP:0004348	Abnormality of bone mineral density	2187	FANCB		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	8642	DCHS1	-	mim2gene	OMIM:601390
HP:0004348	Abnormality of bone mineral density	79631	EFL1		orphadata	ORPHA:811
HP:0004348	Abnormality of bone mineral density	8074	FGF23		orphadata	ORPHA:89937
HP:0004348	Abnormality of bone mineral density	7227	TRPS1	-	mim2gene	OMIM:190350
HP:0004348	Abnormality of bone mineral density	5888	RAD51		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	5618	PRLR		orphadata	ORPHA:397685
HP:0004348	Abnormality of bone mineral density	54209	TREM2		orphadata	ORPHA:2770
HP:0004348	Abnormality of bone mineral density	9719	ADAMTSL2	-	mim2gene	OMIM:231050
HP:0004348	Abnormality of bone mineral density	249	ALPL	-	mim2gene	OMIM:146300
HP:0004348	Abnormality of bone mineral density	2177	FANCD2		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	11128	POLR3A		orphadata	ORPHA:3455
HP:0004348	Abnormality of bone mineral density	5449	POU1F1		orphadata	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	9382	COG1		orphadata	ORPHA:263508
HP:0004348	Abnormality of bone mineral density	55717	WDR11		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	1186	CLCN7		orphadata	ORPHA:210110
HP:0004348	Abnormality of bone mineral density	5159	PDGFRB	-	mim2gene	OMIM:601812
HP:0004348	Abnormality of bone mineral density	5251	PHEX		orphadata	ORPHA:89936
HP:0004348	Abnormality of bone mineral density	2778	GNAS	-	mim2gene	OMIM:103580
HP:0004348	Abnormality of bone mineral density	1300	COL10A1		orphadata	ORPHA:174
HP:0004348	Abnormality of bone mineral density	9509	ADAMTS2		orphadata	ORPHA:1901
HP:0004348	Abnormality of bone mineral density	799	CALCR	susceptibility	mim2gene	OMIM:166710
HP:0004348	Abnormality of bone mineral density	4853	NOTCH2		orphadata	ORPHA:955
HP:0004348	Abnormality of bone mineral density	7486	WRN	-	mim2gene	OMIM:277700
HP:0004348	Abnormality of bone mineral density	114548	NLRP3		orphadata	ORPHA:1451
HP:0004348	Abnormality of bone mineral density	29887	SNX10		orphadata	ORPHA:667
HP:0004348	Abnormality of bone mineral density	4041	LRP5		orphadata	ORPHA:2790
HP:0004348	Abnormality of bone mineral density	6309	SC5D	-	mim2gene	OMIM:607330
HP:0004348	Abnormality of bone mineral density	64116	SLC39A8	-	mim2gene	OMIM:616721
HP:0004348	Abnormality of bone mineral density	6905	TBCE		orphadata	ORPHA:2323
HP:0004348	Abnormality of bone mineral density	1650	DDOST		orphadata	ORPHA:300536
HP:0004348	Abnormality of bone mineral density	2778	GNAS		orphadata	ORPHA:79444
HP:0004348	Abnormality of bone mineral density	672	BRCA1		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	4323	MMP14	question	mim2gene	OMIM:277950
HP:0004348	Abnormality of bone mineral density	1586	CYP17A1		orphadata	ORPHA:90796
HP:0004348	Abnormality of bone mineral density	51750	RTEL1		orphadata	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	28962	OSTM1		orphadata	ORPHA:85179
HP:0004348	Abnormality of bone mineral density	3730	ANOS1		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	26012	NSMF		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	3954	LETM1		orphadata	ORPHA:280
HP:0004348	Abnormality of bone mineral density	6609	SMPD1	-	mim2gene	OMIM:257200
HP:0004348	Abnormality of bone mineral density	3265	HRAS	-	mim2gene	OMIM:163200
HP:0004348	Abnormality of bone mineral density	9247	GCM2	-	mim2gene	OMIM:617343
HP:0004348	Abnormality of bone mineral density	540	ATP7B	-	mim2gene	OMIM:277900
HP:0004348	Abnormality of bone mineral density	54941	RNF125	-	mim2gene	OMIM:616260
HP:0004348	Abnormality of bone mineral density	27130	INVS		orphadata	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	551	AVP	-	mim2gene	OMIM:125700
HP:0004348	Abnormality of bone mineral density	2710	GK	-	mim2gene	OMIM:307030
HP:0004348	Abnormality of bone mineral density	54463	RETREG1		orphadata	ORPHA:970
HP:0004348	Abnormality of bone mineral density	8733	GPAA1	-	mim2gene	OMIM:617810
HP:0004348	Abnormality of bone mineral density	203859	ANO5	-	mim2gene	OMIM:166260
HP:0004348	Abnormality of bone mineral density	9101	USP8		orphadata	ORPHA:96253
HP:0004348	Abnormality of bone mineral density	7516	XRCC2		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	285025	CCDC141		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	10516	FBLN5		orphadata	ORPHA:90349
HP:0004348	Abnormality of bone mineral density	60681	FKBP10	-	mim2gene	OMIM:259450
HP:0004348	Abnormality of bone mineral density	6718	AKR1D1		orphadata	ORPHA:79303
HP:0004348	Abnormality of bone mineral density	5696	PSMB8	-	mim2gene	OMIM:256040
HP:0004348	Abnormality of bone mineral density	54453	RIN2	-	mim2gene	OMIM:613075
HP:0004348	Abnormality of bone mineral density	23592	LEMD3		orphadata	ORPHA:94063
HP:0004348	Abnormality of bone mineral density	3339	HSPG2		orphadata	ORPHA:800
HP:0004348	Abnormality of bone mineral density	367	AR		orphadata	ORPHA:99429
HP:0004348	Abnormality of bone mineral density	3758	KCNJ1	-	mim2gene	OMIM:241200
HP:0004348	Abnormality of bone mineral density	5573	PRKAR1A		orphadata	ORPHA:189439
HP:0004348	Abnormality of bone mineral density	3295	HSD17B4	-	mim2gene	OMIM:233400
HP:0004348	Abnormality of bone mineral density	4692	NDN	-	mim2gene	OMIM:176270
HP:0004348	Abnormality of bone mineral density	6448	SGSH	-	mim2gene	OMIM:252900
HP:0004348	Abnormality of bone mineral density	4041	LRP5	-	mim2gene	OMIM:607634
HP:0004348	Abnormality of bone mineral density	80270	HSD3B7		orphadata	ORPHA:79301
HP:0004348	Abnormality of bone mineral density	5352	PLOD2	-	mim2gene	OMIM:609220
HP:0004348	Abnormality of bone mineral density	1855	DVL1	-	mim2gene	OMIM:616331
HP:0004348	Abnormality of bone mineral density	9037	SEMA5A		orphadata	ORPHA:281
HP:0004348	Abnormality of bone mineral density	121340	SP7	-	mim2gene	OMIM:613849
HP:0004348	Abnormality of bone mineral density	427	ASAH1		orphadata	ORPHA:333
HP:0004348	Abnormality of bone mineral density	8675	STX16		orphadata	ORPHA:94089
HP:0004348	Abnormality of bone mineral density	1848	DUSP6		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	23592	LEMD3		orphadata	ORPHA:1879
HP:0004348	Abnormality of bone mineral density	5566	PRKACA	-	mim2gene	OMIM:615830
HP:0004348	Abnormality of bone mineral density	9663	LPIN2		orphadata	ORPHA:77297
HP:0004348	Abnormality of bone mineral density	55120	FANCL		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	30008	EFEMP2		orphadata	ORPHA:90349
HP:0004348	Abnormality of bone mineral density	79991	STN1	-	mim2gene	OMIM:617341
HP:0004348	Abnormality of bone mineral density	6557	SLC12A1	-	mim2gene	OMIM:601678
HP:0004348	Abnormality of bone mineral density	5184	PEPD		orphadata	ORPHA:742
HP:0004348	Abnormality of bone mineral density	50964	SOST		orphadata	ORPHA:3152
HP:0004348	Abnormality of bone mineral density	2961	GTF2E2		orphadata	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	79577	CDC73		orphadata	ORPHA:99879
HP:0004348	Abnormality of bone mineral density	8820	HESX1		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	7040	TGFB1		orphadata	ORPHA:1328
HP:0004348	Abnormality of bone mineral density	4000	LMNA	-	mim2gene	OMIM:176670
HP:0004348	Abnormality of bone mineral density	5251	PHEX	-	mim2gene	OMIM:307800
HP:0004348	Abnormality of bone mineral density	55135	WRAP53		orphadata	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	3592	IL12A		orphadata	ORPHA:186
HP:0004348	Abnormality of bone mineral density	29968	PSAT1		orphadata	ORPHA:2671
HP:0004348	Abnormality of bone mineral density	6521	SLC4A1	-	mim2gene	OMIM:179800
HP:0004348	Abnormality of bone mineral density	2516	NR5A1		orphadata	ORPHA:243
HP:0004348	Abnormality of bone mineral density	4038	LRP4		orphadata	ORPHA:3152
HP:0004348	Abnormality of bone mineral density	51082	POLR1D		orphadata	ORPHA:861
HP:0004348	Abnormality of bone mineral density	1736	DKC1		orphadata	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	28962	OSTM1	-	mim2gene	OMIM:259720
HP:0004348	Abnormality of bone mineral density	50484	RRM2B		orphadata	ORPHA:254892
HP:0004348	Abnormality of bone mineral density	84992	PIGY	-	mim2gene	OMIM:616809
HP:0004348	Abnormality of bone mineral density	4000	LMNA		orphadata	ORPHA:1662
HP:0004348	Abnormality of bone mineral density	65125	WNK1		orphadata	ORPHA:970
HP:0004348	Abnormality of bone mineral density	1991	ELANE		orphadata	ORPHA:486
HP:0004348	Abnormality of bone mineral density	2316	FLNA	-	mim2gene	OMIM:305620
HP:0004348	Abnormality of bone mineral density	55733	HHAT		orphadata	ORPHA:1422
HP:0004348	Abnormality of bone mineral density	2100	ESR2	question	mim2gene	OMIM:618187
HP:0004348	Abnormality of bone mineral density	142680	SLC34A3	-	mim2gene	OMIM:241530
HP:0004348	Abnormality of bone mineral density	58484	NLRC4		orphadata	ORPHA:1451
HP:0004348	Abnormality of bone mineral density	9419	CRIPT	-	mim2gene	OMIM:615789
HP:0004348	Abnormality of bone mineral density	64412	GZF1	-	mim2gene	OMIM:617662
HP:0004348	Abnormality of bone mineral density	2717	GLA		orphadata	ORPHA:324
HP:0004348	Abnormality of bone mineral density	6774	STAT3		orphadata	ORPHA:2314
HP:0004348	Abnormality of bone mineral density	6949	TCOF1		orphadata	ORPHA:861
HP:0004348	Abnormality of bone mineral density	8792	TNFRSF11A		orphadata	ORPHA:2801
HP:0004348	Abnormality of bone mineral density	64132	XYLT2	-	mim2gene	OMIM:605822
HP:0004348	Abnormality of bone mineral density	79577	CDC73		orphadata	ORPHA:99880
HP:0004348	Abnormality of bone mineral density	2778	GNAS	-	mim2gene	OMIM:219080
HP:0004348	Abnormality of bone mineral density	6497	SKI	-	mim2gene	OMIM:182212
HP:0004348	Abnormality of bone mineral density	7421	VDR	question	mim2gene	OMIM:166710
HP:0004348	Abnormality of bone mineral density	8818	DPM2		orphadata	ORPHA:329178
HP:0004348	Abnormality of bone mineral density	5468	PPARG		orphadata	ORPHA:528
HP:0004348	Abnormality of bone mineral density	91252	SLC39A13	-	mim2gene	OMIM:612350
HP:0004348	Abnormality of bone mineral density	84701	COX4I2	-	mim2gene	OMIM:612714
HP:0004348	Abnormality of bone mineral density	9791	PTDSS1		orphadata	ORPHA:2658
HP:0004348	Abnormality of bone mineral density	5889	RAD51C		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	9368	SLC9A3R1	-	mim2gene	OMIM:612287
HP:0004348	Abnormality of bone mineral density	100033413	SNORD116-1	-	mim2gene	OMIM:176270
HP:0004348	Abnormality of bone mineral density	6845	VAMP7		orphadata	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	2074	ERCC6	-	mim2gene	OMIM:133540
HP:0004348	Abnormality of bone mineral density	6335	SCN9A		orphadata	ORPHA:970
HP:0004348	Abnormality of bone mineral density	2260	FGFR1		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	6611	SMS	-	mim2gene	OMIM:309583
HP:0004348	Abnormality of bone mineral density	3248	HPGD	-	mim2gene	OMIM:259100
HP:0004348	Abnormality of bone mineral density	1277	COL1A1	-	mim2gene	OMIM:130060
HP:0004348	Abnormality of bone mineral density	50964	SOST	-	mim2gene	OMIM:122860
HP:0004348	Abnormality of bone mineral density	9031	BAZ1B		orphadata	ORPHA:904
HP:0004348	Abnormality of bone mineral density	2068	ERCC2		orphadata	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	55603	TENT5A	-	mim2gene	OMIM:617952
HP:0004348	Abnormality of bone mineral density	6135	RPL11	-	mim2gene	OMIM:612562
HP:0004348	Abnormality of bone mineral density	4668	NAGA	-	mim2gene	OMIM:609241
HP:0004348	Abnormality of bone mineral density	26012	NSMF		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	3284	HSD3B2		orphadata	ORPHA:90791
HP:0004348	Abnormality of bone mineral density	6569	SLC34A1	question	mim2gene	OMIM:613388
HP:0004348	Abnormality of bone mineral density	5352	PLOD2		orphadata	ORPHA:2771
HP:0004348	Abnormality of bone mineral density	5015	OTX2		orphadata	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	60675	PROK2		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	1186	CLCN7	-	mim2gene	OMIM:166600
HP:0004348	Abnormality of bone mineral density	2778	GNAS	-	mim2gene	OMIM:612463
HP:0004348	Abnormality of bone mineral density	23545	ATP6V0A2		orphadata	ORPHA:2834
HP:0004348	Abnormality of bone mineral density	6611	SMS		orphadata	ORPHA:3063
HP:0004348	Abnormality of bone mineral density	6897	TARS1		orphadata	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	10312	TCIRG1		orphadata	ORPHA:486
HP:0004348	Abnormality of bone mineral density	55159	RFWD3		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2778	GNAS		orphadata	ORPHA:189427
HP:0004348	Abnormality of bone mineral density	5982	RFC2		orphadata	ORPHA:904
HP:0004348	Abnormality of bone mineral density	54567	DLL4		orphadata	ORPHA:1114
HP:0004348	Abnormality of bone mineral density	166929	SGMS2	-	mim2gene	OMIM:126550
HP:0004348	Abnormality of bone mineral density	9657	IQCB1		orphadata	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	649	BMP1	-	mim2gene	OMIM:614856
HP:0004348	Abnormality of bone mineral density	9842	PLEKHM1	-	mim2gene	OMIM:618107
HP:0004348	Abnormality of bone mineral density	7390	UROS	-	mim2gene	OMIM:263700
HP:0004348	Abnormality of bone mineral density	2253	FGF8		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	4323	MMP14		orphadata	ORPHA:371428
HP:0004348	Abnormality of bone mineral density	55505	NOP10		orphadata	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	7421	VDR	-	mim2gene	OMIM:277440
HP:0004348	Abnormality of bone mineral density	5745	PTH1R	-	mim2gene	OMIM:156400
HP:0004348	Abnormality of bone mineral density	10265	IRX5	-	mim2gene	OMIM:611174
HP:0004348	Abnormality of bone mineral density	8600	TNFSF11	-	mim2gene	OMIM:259710
HP:0004348	Abnormality of bone mineral density	2542	SLC37A4	-	mim2gene	OMIM:232220
HP:0004348	Abnormality of bone mineral density	55651	NHP2		orphadata	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	11285	B4GALT7		orphadata	ORPHA:75496
HP:0004348	Abnormality of bone mineral density	6736	SRY		orphadata	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	56652	TWNK		orphadata	ORPHA:254892
HP:0004348	Abnormality of bone mineral density	1184	CLCN5	-	mim2gene	OMIM:300009
HP:0004348	Abnormality of bone mineral density	9569	GTF2IRD1		orphadata	ORPHA:904
HP:0004348	Abnormality of bone mineral density	5626	PROP1		orphadata	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	64116	SLC39A8		orphadata	ORPHA:468699
HP:0004348	Abnormality of bone mineral density	8820	HESX1		orphadata	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	2796	GNRH1		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	55215	FANCI		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	5424	POLD1	-	mim2gene	OMIM:615381
HP:0004348	Abnormality of bone mineral density	8074	FGF23	-	mim2gene	OMIM:193100
HP:0004348	Abnormality of bone mineral density	7468	NSD2		orphadata	ORPHA:280
HP:0004348	Abnormality of bone mineral density	4214	MAP3K1		orphadata	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	5073	PARN		orphadata	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	2672	GFI1		orphadata	ORPHA:486
HP:0004348	Abnormality of bone mineral density	8822	FGF17	-	mim2gene	OMIM:615270
HP:0004348	Abnormality of bone mineral density	26580	BSCL2		orphadata	ORPHA:528
HP:0004348	Abnormality of bone mineral density	50940	PDE11A		orphadata	ORPHA:189439
HP:0004348	Abnormality of bone mineral density	64072	CDH23		orphadata	ORPHA:2965
HP:0004348	Abnormality of bone mineral density	7737	RNF113A		orphadata	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	10459	MAD2L2		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	23545	ATP6V0A2	-	mim2gene	OMIM:278250
HP:0004348	Abnormality of bone mineral density	1175	AP2S1	-	mim2gene	OMIM:600740
HP:0004348	Abnormality of bone mineral density	5373	PMM2		orphadata	ORPHA:79318
HP:0004348	Abnormality of bone mineral density	9966	TNFSF15		orphadata	ORPHA:186
HP:0004348	Abnormality of bone mineral density	93587	TRMT10A	-	mim2gene	OMIM:616033
HP:0004348	Abnormality of bone mineral density	23514	SPIDR		orphadata	ORPHA:243
HP:0004348	Abnormality of bone mineral density	860	RUNX2	-	mim2gene	OMIM:156510
HP:0004348	Abnormality of bone mineral density	5447	POR		orphadata	ORPHA:95699
HP:0004348	Abnormality of bone mineral density	10371	SEMA3A		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	2623	GATA1		orphadata	ORPHA:79277
HP:0004348	Abnormality of bone mineral density	791114	PWRN1	-	mim2gene	OMIM:176270
HP:0004348	Abnormality of bone mineral density	79650	USB1		orphadata	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	1758	DMP1	-	mim2gene	OMIM:241520
HP:0004348	Abnormality of bone mineral density	51119	SBDS		orphadata	ORPHA:811
HP:0004348	Abnormality of bone mineral density	5831	PYCR1		orphadata	ORPHA:2078
HP:0004348	Abnormality of bone mineral density	2492	FSHR		orphadata	ORPHA:243
HP:0004348	Abnormality of bone mineral density	51098	IFT52		orphadata	ORPHA:1515
HP:0004348	Abnormality of bone mineral density	2859	GPR35		orphadata	ORPHA:171
HP:0004348	Abnormality of bone mineral density	60675	PROK2	-	mim2gene	OMIM:610628
HP:0004348	Abnormality of bone mineral density	2175	FANCA		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	6772	STAT1		orphadata	ORPHA:391487
HP:0004348	Abnormality of bone mineral density	1497	CTNS	-	mim2gene	OMIM:219800
HP:0004348	Abnormality of bone mineral density	5096	PCCB	-	mim2gene	OMIM:606054
HP:0004348	Abnormality of bone mineral density	139285	AMER1	-	mim2gene	OMIM:300373
HP:0004348	Abnormality of bone mineral density	118429	ANTXR2	-	mim2gene	OMIM:228600
HP:0004348	Abnormality of bone mineral density	54756	IL17RD	-	mim2gene	OMIM:615267
HP:0004348	Abnormality of bone mineral density	3930	LBR	-	mim2gene	OMIM:215140
HP:0004348	Abnormality of bone mineral density	1747	DLX3	-	mim2gene	OMIM:190320
HP:0004348	Abnormality of bone mineral density	84634	KISS1R		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	9871	SEC24D	-	mim2gene	OMIM:616294
HP:0004348	Abnormality of bone mineral density	29893	PSMC3IP		orphadata	ORPHA:243
HP:0004348	Abnormality of bone mineral density	3248	HPGD		orphadata	ORPHA:2796
HP:0004348	Abnormality of bone mineral density	142680	SLC34A3		orphadata	ORPHA:157215
HP:0004348	Abnormality of bone mineral density	84464	SLX4		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	7015	TERT	-	mim2gene	OMIM:127550
HP:0004348	Abnormality of bone mineral density	6521	SLC4A1	-	mim2gene	OMIM:611590
HP:0004348	Abnormality of bone mineral density	26227	PHGDH		orphadata	ORPHA:2671
HP:0004348	Abnormality of bone mineral density	9394	HS6ST1		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	55151	TMEM38B	-	mim2gene	OMIM:615066
HP:0004348	Abnormality of bone mineral density	202018	TAPT1	-	mim2gene	OMIM:616897
HP:0004348	Abnormality of bone mineral density	1186	CLCN7		orphadata	ORPHA:667
HP:0004348	Abnormality of bone mineral density	387733	IFITM5	-	mim2gene	OMIM:610967
HP:0004348	Abnormality of bone mineral density	9451	EIF2AK3	-	mim2gene	OMIM:226980
HP:0004348	Abnormality of bone mineral density	10056	FARSB	-	mim2gene	OMIM:613658
HP:0004348	Abnormality of bone mineral density	4041	LRP5		orphadata	ORPHA:3416
HP:0004348	Abnormality of bone mineral density	9101	USP8	-	mim2gene	OMIM:219090
HP:0004348	Abnormality of bone mineral density	6678	SPARC	-	mim2gene	OMIM:616507
HP:0004348	Abnormality of bone mineral density	2316	FLNA		orphadata	ORPHA:90652
HP:0004348	Abnormality of bone mineral density	5167	ENPP1	-	mim2gene	OMIM:613312
HP:0004348	Abnormality of bone mineral density	2006	ELN		orphadata	ORPHA:904
HP:0004348	Abnormality of bone mineral density	169792	GLIS3	-	mim2gene	OMIM:610199
HP:0004348	Abnormality of bone mineral density	5831	PYCR1	-	mim2gene	OMIM:612940
HP:0004348	Abnormality of bone mineral density	134218	DNAJC21		orphadata	ORPHA:811
HP:0004348	Abnormality of bone mineral density	50485	SMARCAL1	-	mim2gene	OMIM:242900
HP:0004348	Abnormality of bone mineral density	284119	CAVIN1		orphadata	ORPHA:528
HP:0004348	Abnormality of bone mineral density	7040	TGFB1	-	mim2gene	OMIM:131300
HP:0004348	Abnormality of bone mineral density	2629	GBA		orphadata	ORPHA:77261
HP:0004348	Abnormality of bone mineral density	2263	FGFR2		orphadata	ORPHA:313855
HP:0004348	Abnormality of bone mineral density	79728	PALB2		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	23387	SIK3	question	mim2gene	OMIM:618162
HP:0004348	Abnormality of bone mineral density	1594	CYP27B1		orphadata	ORPHA:289157
HP:0004348	Abnormality of bone mineral density	4041	LRP5		orphadata	ORPHA:2788
HP:0004348	Abnormality of bone mineral density	6905	TBCE		orphadata	ORPHA:93324
HP:0004348	Abnormality of bone mineral density	2052	EPHX1	question	mim2gene	OMIM:607748
HP:0004348	Abnormality of bone mineral density	4040	LRP6	susceptibility	mim2gene	OMIM:610947
HP:0004348	Abnormality of bone mineral density	57539	WDR35		orphadata	ORPHA:1515
HP:0004348	Abnormality of bone mineral density	4669	NAGLU	-	mim2gene	OMIM:252920
HP:0004348	Abnormality of bone mineral density	5566	PRKACA		orphadata	ORPHA:189439
HP:0004348	Abnormality of bone mineral density	291	SLC25A4		orphadata	ORPHA:254892
HP:0004348	Abnormality of bone mineral density	2178	FANCE		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	2530	FUT8	-	mim2gene	OMIM:618005
HP:0004348	Abnormality of bone mineral density	57697	FANCM		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	6569	SLC34A1	-	mim2gene	OMIM:612286
HP:0004348	Abnormality of bone mineral density	4286	MITF	-	mim2gene	OMIM:617306
HP:0004348	Abnormality of bone mineral density	148738	HJV		orphadata	ORPHA:79230
HP:0004348	Abnormality of bone mineral density	55315	SLC29A3		orphadata	ORPHA:1782
HP:0004348	Abnormality of bone mineral density	1278	COL1A2	susceptibility	mim2gene	OMIM:166710
HP:0004348	Abnormality of bone mineral density	2099	ESR1		orphadata	ORPHA:785
HP:0004348	Abnormality of bone mineral density	81848	SPRY4		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	2006	ELN	-	mim2gene	OMIM:194050
HP:0004348	Abnormality of bone mineral density	389549	FEZF1		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	29887	SNX10	-	mim2gene	OMIM:615085
HP:0004348	Abnormality of bone mineral density	6870	TACR3		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	57728	WDR19		orphadata	ORPHA:1515
HP:0004348	Abnormality of bone mineral density	1848	DUSP6	-	mim2gene	OMIM:615269
HP:0004348	Abnormality of bone mineral density	55717	WDR11		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	4853	NOTCH2	-	mim2gene	OMIM:102500
HP:0004348	Abnormality of bone mineral density	126792	B3GALT6	-	mim2gene	OMIM:271640
HP:0004348	Abnormality of bone mineral density	2316	FLNA	-	mim2gene	OMIM:304120
HP:0004348	Abnormality of bone mineral density	138050	HGSNAT	-	mim2gene	OMIM:252930
HP:0004348	Abnormality of bone mineral density	9382	COG1	-	mim2gene	OMIM:611209
HP:0004348	Abnormality of bone mineral density	26040	SETBP1		orphadata	ORPHA:798
HP:0004348	Abnormality of bone mineral density	9414	TJP2	-	mim2gene	OMIM:607748
HP:0004348	Abnormality of bone mineral density	5426	POLE	-	mim2gene	OMIM:618336
HP:0004348	Abnormality of bone mineral density	6514	SLC2A2	-	mim2gene	OMIM:227810
HP:0004348	Abnormality of bone mineral density	22897	CEP164		orphadata	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	55858	TMEM165	-	mim2gene	OMIM:614727
HP:0004348	Abnormality of bone mineral density	538	ATP7A	-	mim2gene	OMIM:304150
HP:0004348	Abnormality of bone mineral density	6497	SKI		orphadata	ORPHA:2462
HP:0004348	Abnormality of bone mineral density	4854	NOTCH3	-	mim2gene	OMIM:130720
HP:0004348	Abnormality of bone mineral density	10491	CRTAP	-	mim2gene	OMIM:610682
HP:0004348	Abnormality of bone mineral density	4507	MTAP	-	mim2gene	OMIM:112250
HP:0004348	Abnormality of bone mineral density	64135	IFIH1	-	mim2gene	OMIM:182250
HP:0004348	Abnormality of bone mineral density	284119	CAVIN1	-	mim2gene	OMIM:613327
HP:0004348	Abnormality of bone mineral density	9451	EIF2AK3		orphadata	ORPHA:1667
HP:0004348	Abnormality of bone mineral density	538	ATP7A		orphadata	ORPHA:198
HP:0004348	Abnormality of bone mineral density	120227	CYP2R1	-	mim2gene	OMIM:600081
HP:0004348	Abnormality of bone mineral density	55636	CHD7		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	23534	TNPO3		orphadata	ORPHA:186
HP:0004348	Abnormality of bone mineral density	10060	ABCC9	-	mim2gene	OMIM:239850
HP:0004348	Abnormality of bone mineral density	6638	SNRPN	-	mim2gene	OMIM:176270
HP:0004348	Abnormality of bone mineral density	3977	LIFR	-	mim2gene	OMIM:601559
HP:0004348	Abnormality of bone mineral density	8600	TNFSF11		orphadata	ORPHA:667
HP:0004348	Abnormality of bone mineral density	10312	TCIRG1	-	mim2gene	OMIM:259700
HP:0004348	Abnormality of bone mineral density	538	ATP7A		orphadata	ORPHA:565
HP:0004348	Abnormality of bone mineral density	2767	GNA11		orphadata	ORPHA:428
HP:0004348	Abnormality of bone mineral density	203859	ANO5		orphadata	ORPHA:53697
HP:0004348	Abnormality of bone mineral density	50964	SOST	-	mim2gene	OMIM:239100
HP:0004348	Abnormality of bone mineral density	84627	ZNF469		orphadata	ORPHA:90354
HP:0004348	Abnormality of bone mineral density	5745	PTH1R		orphadata	ORPHA:50945
HP:0004348	Abnormality of bone mineral density	23516	SLC39A14	question	mim2gene	OMIM:144755
HP:0004348	Abnormality of bone mineral density	1497	CTNS	-	mim2gene	OMIM:219900
HP:0004348	Abnormality of bone mineral density	285025	CCDC141		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	871	SERPINH1	-	mim2gene	OMIM:613848
HP:0004348	Abnormality of bone mineral density	11285	B4GALT7	-	mim2gene	OMIM:130070
HP:0004348	Abnormality of bone mineral density	9469	CHST3	-	mim2gene	OMIM:143095
HP:0004348	Abnormality of bone mineral density	4000	LMNA		orphadata	ORPHA:79474
HP:0004348	Abnormality of bone mineral density	3653	IPW	-	mim2gene	OMIM:176270
HP:0004348	Abnormality of bone mineral density	27031	NPHP3		orphadata	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	11232	POLG2		orphadata	ORPHA:254892
HP:0004348	Abnormality of bone mineral density	2074	ERCC6	-	mim2gene	OMIM:214150
HP:0004348	Abnormality of bone mineral density	7012	TERC		orphadata	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	570	BAAT	-	mim2gene	OMIM:607748
HP:0004348	Abnormality of bone mineral density	51360	MBTPS2	-	mim2gene	OMIM:301014
HP:0004348	Abnormality of bone mineral density	8481	OFD1		orphadata	ORPHA:2750
HP:0004348	Abnormality of bone mineral density	4000	LMNA		orphadata	ORPHA:740
HP:0004348	Abnormality of bone mineral density	10060	ABCC9		orphadata	ORPHA:1517
HP:0004348	Abnormality of bone mineral density	2260	FGFR1	-	mim2gene	OMIM:147950
HP:0004348	Abnormality of bone mineral density	51604	PIGT	-	mim2gene	OMIM:615398
HP:0004348	Abnormality of bone mineral density	5167	ENPP1		orphadata	ORPHA:289176
HP:0004348	Abnormality of bone mineral density	1186	CLCN7	-	mim2gene	OMIM:611490
HP:0004348	Abnormality of bone mineral density	6872	TAF1	-	mim2gene	OMIM:300966
HP:0004348	Abnormality of bone mineral density	80169	CTC1		orphadata	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	6916	TBXAS1	-	mim2gene	OMIM:231095
HP:0004348	Abnormality of bone mineral density	4313	MMP2	-	mim2gene	OMIM:259600
HP:0004348	Abnormality of bone mineral density	1758	DMP1		orphadata	ORPHA:289176
HP:0004348	Abnormality of bone mineral density	55636	CHD7		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	89884	LHX4		orphadata	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	4982	TNFRSF11B	-	mim2gene	OMIM:239000
HP:0004348	Abnormality of bone mineral density	2736	GLI2		orphadata	ORPHA:95494
HP:0004348	Abnormality of bone mineral density	26012	NSMF	-	mim2gene	OMIM:614838
HP:0004348	Abnormality of bone mineral density	9247	GCM2		orphadata	ORPHA:99879
HP:0004348	Abnormality of bone mineral density	151188	ARL6IP6		orphadata	ORPHA:1556
HP:0004348	Abnormality of bone mineral density	26040	SETBP1	-	mim2gene	OMIM:269150
HP:0004348	Abnormality of bone mineral density	63901	FAM111A	-	mim2gene	OMIM:127000
HP:0004348	Abnormality of bone mineral density	4160	MC4R	-	mim2gene	OMIM:618406
HP:0004348	Abnormality of bone mineral density	100151683	RNU4ATAC		orphadata	ORPHA:2636
HP:0004348	Abnormality of bone mineral density	9842	PLEKHM1		orphadata	ORPHA:210110
HP:0004348	Abnormality of bone mineral density	23592	LEMD3	-	mim2gene	OMIM:166700
HP:0004348	Abnormality of bone mineral density	9533	POLR1C		orphadata	ORPHA:861
HP:0004348	Abnormality of bone mineral density	1630	DCC		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	7469	NELFA		orphadata	ORPHA:280
HP:0004348	Abnormality of bone mineral density	2538	G6PC	-	mim2gene	OMIM:232200
HP:0004348	Abnormality of bone mineral density	55811	ADCY10		orphadata	ORPHA:2197
HP:0004348	Abnormality of bone mineral density	8838	CCN6	-	mim2gene	OMIM:208230
HP:0004348	Abnormality of bone mineral density	8642	DCHS1		orphadata	ORPHA:314679
HP:0004348	Abnormality of bone mineral density	92344	GORAB		orphadata	ORPHA:2078
HP:0004348	Abnormality of bone mineral density	64132	XYLT2		orphadata	ORPHA:85194
HP:0004348	Abnormality of bone mineral density	3764	KCNJ8		orphadata	ORPHA:1517
HP:0004348	Abnormality of bone mineral density	2720	GLB1	-	mim2gene	OMIM:253010
HP:0004348	Abnormality of bone mineral density	2071	ERCC3		orphadata	ORPHA:33364
HP:0004348	Abnormality of bone mineral density	3984	LIMK1		orphadata	ORPHA:904
HP:0004348	Abnormality of bone mineral density	64175	P3H1	-	mim2gene	OMIM:610915
HP:0004348	Abnormality of bone mineral density	51103	NDUFAF1	-	mim2gene	OMIM:618234
HP:0004348	Abnormality of bone mineral density	1836	SLC26A2		orphadata	ORPHA:628
HP:0004348	Abnormality of bone mineral density	8815	BANF1	-	mim2gene	OMIM:614008
HP:0004348	Abnormality of bone mineral density	9210	BMP15		orphadata	ORPHA:243
HP:0004348	Abnormality of bone mineral density	9469	CHST3	-	mim2gene	OMIM:245600
HP:0004348	Abnormality of bone mineral density	23767	FLRT3	-	mim2gene	OMIM:615271
HP:0004348	Abnormality of bone mineral density	2592	GALT		orphadata	ORPHA:79239
HP:0004348	Abnormality of bone mineral density	6772	STAT1	-	mim2gene	OMIM:614162
HP:0004348	Abnormality of bone mineral density	5604	MAP2K1	-	mim2gene	OMIM:615279
HP:0004348	Abnormality of bone mineral density	675	BRCA2		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	7355	SLC35A2		orphadata	ORPHA:356961
HP:0004348	Abnormality of bone mineral density	56172	ANKH		orphadata	ORPHA:1522
HP:0004348	Abnormality of bone mineral density	2316	FLNA		orphadata	ORPHA:90650
HP:0004348	Abnormality of bone mineral density	79798	ARMC5		orphadata	ORPHA:189427
HP:0004348	Abnormality of bone mineral density	213	ALB	-	mim2gene	OMIM:616000
HP:0004348	Abnormality of bone mineral density	6905	TBCE	-	mim2gene	OMIM:241410
HP:0004348	Abnormality of bone mineral density	4322	MMP13		orphadata	ORPHA:2501
HP:0004348	Abnormality of bone mineral density	55325	UFSP2		orphadata	ORPHA:2114
HP:0004348	Abnormality of bone mineral density	189	AGXT	-	mim2gene	OMIM:259900
HP:0004348	Abnormality of bone mineral density	2200	FBN1		orphadata	ORPHA:2462
HP:0004348	Abnormality of bone mineral density	54551	MAGEL2	-	mim2gene	OMIM:176270
HP:0004348	Abnormality of bone mineral density	8985	PLOD3	-	mim2gene	OMIM:612394
HP:0004348	Abnormality of bone mineral density	3909	LAMA3		orphadata	ORPHA:79404
HP:0004348	Abnormality of bone mineral density	128674	PROKR2		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	6658	SOX3		orphadata	ORPHA:90695
HP:0004348	Abnormality of bone mineral density	3077	HFE	-	mim2gene	OMIM:235200
HP:0004348	Abnormality of bone mineral density	875	CBS		orphadata	ORPHA:394
HP:0004348	Abnormality of bone mineral density	10108	MKRN3-AS1	-	mim2gene	OMIM:176270
HP:0004348	Abnormality of bone mineral density	7415	VCP		orphadata	ORPHA:329475
HP:0004348	Abnormality of bone mineral density	8517	IKBKG	-	mim2gene	OMIM:300301
HP:0004348	Abnormality of bone mineral density	26277	TINF2	-	mim2gene	OMIM:613990
HP:0004348	Abnormality of bone mineral density	79577	CDC73		orphadata	ORPHA:143
HP:0004348	Abnormality of bone mineral density	3918	LAMC2		orphadata	ORPHA:79404
HP:0004348	Abnormality of bone mineral density	3172	HNF4A		orphadata	ORPHA:263455
HP:0004348	Abnormality of bone mineral density	4665	NAB2		orphadata	ORPHA:2126
HP:0004348	Abnormality of bone mineral density	145624	PWAR1	-	mim2gene	OMIM:176270
HP:0004348	Abnormality of bone mineral density	55252	ASXL2	-	mim2gene	OMIM:617190
HP:0004348	Abnormality of bone mineral density	950	SCARB2		orphadata	ORPHA:77259
HP:0004348	Abnormality of bone mineral density	1277	COL1A1	-	mim2gene	OMIM:166220
HP:0004348	Abnormality of bone mineral density	2253	FGF8		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	4952	OCRL		orphadata	ORPHA:534
HP:0004348	Abnormality of bone mineral density	8622	PDE8B		orphadata	ORPHA:189439
HP:0004348	Abnormality of bone mineral density	4221	MEN1		orphadata	ORPHA:2965
HP:0004348	Abnormality of bone mineral density	1584	CYP11B1		orphadata	ORPHA:90795
HP:0004348	Abnormality of bone mineral density	2184	FAH		orphadata	ORPHA:882
HP:0004348	Abnormality of bone mineral density	26146	TRAF3IP1		orphadata	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	1583	CYP11A1		orphadata	ORPHA:168558
HP:0004348	Abnormality of bone mineral density	1594	CYP27B1	-	mim2gene	OMIM:264700
HP:0004348	Abnormality of bone mineral density	4000	LMNA	-	mim2gene	OMIM:212112
HP:0004348	Abnormality of bone mineral density	6603	SMARCD2	-	mim2gene	OMIM:617475
HP:0004348	Abnormality of bone mineral density	64072	CDH23		orphadata	ORPHA:96253
HP:0004348	Abnormality of bone mineral density	8443	GNPAT	-	mim2gene	OMIM:222765
HP:0004348	Abnormality of bone mineral density	7490	WT1		orphadata	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	190	NR0B1		orphadata	ORPHA:251510
HP:0004348	Abnormality of bone mineral density	2778	GNAS		orphadata	ORPHA:94089
HP:0004348	Abnormality of bone mineral density	6925	TCF4		orphadata	ORPHA:171
HP:0004348	Abnormality of bone mineral density	2778	GNAS		orphadata	ORPHA:79443
HP:0004348	Abnormality of bone mineral density	60386	SLC25A19		orphadata	ORPHA:99742
HP:0004348	Abnormality of bone mineral density	4867	NPHP1		orphadata	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	55651	NHP2	-	mim2gene	OMIM:224230
HP:0004348	Abnormality of bone mineral density	3814	KISS1		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	57728	WDR19		orphadata	ORPHA:3156
HP:0004348	Abnormality of bone mineral density	10269	ZMPSTE24		orphadata	ORPHA:740
HP:0004348	Abnormality of bone mineral density	26137	ZBTB20	-	mim2gene	OMIM:259050
HP:0004348	Abnormality of bone mineral density	3691	ITGB4		orphadata	ORPHA:1114
HP:0004348	Abnormality of bone mineral density	1277	COL1A1	-	mim2gene	OMIM:259420
HP:0004348	Abnormality of bone mineral density	26277	TINF2		orphadata	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	6729	SRP54		orphadata	ORPHA:811
HP:0004348	Abnormality of bone mineral density	2260	FGFR1		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	1736	DKC1	-	mim2gene	OMIM:305000
HP:0004348	Abnormality of bone mineral density	2099	ESR1	-	mim2gene	OMIM:615363
HP:0004348	Abnormality of bone mineral density	9401	RECQL4		orphadata	ORPHA:221016
HP:0004348	Abnormality of bone mineral density	5660	PSAP	-	mim2gene	OMIM:610539
HP:0004348	Abnormality of bone mineral density	54756	IL17RD		orphadata	ORPHA:478
HP:0004348	Abnormality of bone mineral density	9723	SEMA3E		orphadata	ORPHA:138
HP:0004348	Abnormality of bone mineral density	5358	PLS3	-	mim2gene	OMIM:300910
HP:0004348	Abnormality of bone mineral density	8822	FGF17		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	3043	HBB		orphadata	ORPHA:231214
HP:0004348	Abnormality of bone mineral density	285175	UNC80	-	mim2gene	OMIM:616801
HP:0004348	Abnormality of bone mineral density	8239	USP9X		orphadata	ORPHA:480880
HP:0004348	Abnormality of bone mineral density	2176	FANCC		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	6714	SRC	question	mim2gene	OMIM:616937
HP:0004348	Abnormality of bone mineral density	1277	COL1A1	-	mim2gene	OMIM:166200
HP:0004348	Abnormality of bone mineral density	1497	CTNS		orphadata	ORPHA:411629
HP:0004348	Abnormality of bone mineral density	7486	WRN		orphadata	ORPHA:902
HP:0004348	Abnormality of bone mineral density	7390	UROS		orphadata	ORPHA:79277
HP:0004348	Abnormality of bone mineral density	55033	FKBP14	-	mim2gene	OMIM:614557
HP:0004348	Abnormality of bone mineral density	55636	CHD7		orphadata	ORPHA:138
HP:0004348	Abnormality of bone mineral density	1501	CTNND2		orphadata	ORPHA:281
HP:0004348	Abnormality of bone mineral density	83990	BRIP1		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	10312	TCIRG1		orphadata	ORPHA:667
HP:0004348	Abnormality of bone mineral density	60681	FKBP10	-	mim2gene	OMIM:610968
HP:0004348	Abnormality of bone mineral density	50964	SOST		orphadata	ORPHA:3416
HP:0004348	Abnormality of bone mineral density	55503	TRPV6	-	mim2gene	OMIM:618188
HP:0004348	Abnormality of bone mineral density	128674	PROKR2		orphadata	ORPHA:432
HP:0004348	Abnormality of bone mineral density	7048	TGFBR2	-	mim2gene	OMIM:610168
HP:0004348	Abnormality of bone mineral density	5095	PCCA	-	mim2gene	OMIM:606054
HP:0004348	Abnormality of bone mineral density	5745	PTH1R	-	mim2gene	OMIM:215045
HP:0004348	Abnormality of bone mineral density	1161	ERCC8	-	mim2gene	OMIM:216400
HP:0004348	Abnormality of bone mineral density	3663	IRF5		orphadata	ORPHA:186
HP:0004348	Abnormality of bone mineral density	8878	SQSTM1	-	mim2gene	OMIM:167250
HP:0004348	Abnormality of bone mineral density	79633	FAT4	-	mim2gene	OMIM:616006
HP:0004348	Abnormality of bone mineral density	84634	KISS1R	-	mim2gene	OMIM:614837
HP:0004348	Abnormality of bone mineral density	10682	EBP	-	mim2gene	OMIM:302960
HP:0004348	Abnormality of bone mineral density	29089	UBE2T		orphadata	ORPHA:84
HP:0004348	Abnormality of bone mineral density	26229	B3GAT3	-	mim2gene	OMIM:245600
HP:0004348	Abnormality of bone mineral density	7015	TERT		orphadata	ORPHA:1775
HP:0004348	Abnormality of bone mineral density	23592	LEMD3		orphadata	ORPHA:166119
HP:0004348	Abnormality of bone mineral density	4796	TONSL	-	mim2gene	OMIM:271510
HP:0004348	Abnormality of bone mineral density	4088	SMAD3	-	mim2gene	OMIM:613795
HP:0004348	Abnormality of bone mineral density	22943	DKK1		orphadata	ORPHA:85193
HP:0004348	Abnormality of bone mineral density	368	ABCC6	-	mim2gene	OMIM:614473
HP:0004349	Reduced bone mineral density	1583	CYP11A1		orphadata	ORPHA:289548
HP:0004349	Reduced bone mineral density	404672	GTF2H5		orphadata	ORPHA:33364
HP:0004349	Reduced bone mineral density	79633	FAT4		orphadata	ORPHA:314679
HP:0004349	Reduced bone mineral density	171568	POLR3H		orphadata	ORPHA:243
HP:0004349	Reduced bone mineral density	51124	IER3IP1	-	mim2gene	OMIM:614231
HP:0004349	Reduced bone mineral density	92344	GORAB	-	mim2gene	OMIM:231070
HP:0004349	Reduced bone mineral density	5728	PTEN		orphadata	ORPHA:137608
HP:0004349	Reduced bone mineral density	124583	CANT1	-	mim2gene	OMIM:251450
HP:0004349	Reduced bone mineral density	120227	CYP2R1		orphadata	ORPHA:289157
HP:0004349	Reduced bone mineral density	5573	PRKAR1A	-	mim2gene	OMIM:610489
HP:0004349	Reduced bone mineral density	367	AR		orphadata	ORPHA:90797
HP:0004349	Reduced bone mineral density	91147	TMEM67	question	mim2gene	OMIM:602152
HP:0004349	Reduced bone mineral density	1593	CYP27A1	-	mim2gene	OMIM:213700
HP:0004349	Reduced bone mineral density	6662	SOX9		orphadata	ORPHA:251510
HP:0004349	Reduced bone mineral density	9401	RECQL4	-	mim2gene	OMIM:268400
HP:0004349	Reduced bone mineral density	7227	TRPS1	-	mim2gene	OMIM:190351
HP:0004349	Reduced bone mineral density	1280	COL2A1	-	mim2gene	OMIM:608805
HP:0004349	Reduced bone mineral density	10555	AGPAT2		orphadata	ORPHA:528
HP:0004349	Reduced bone mineral density	5034	P4HB	-	mim2gene	OMIM:112240
HP:0004349	Reduced bone mineral density	80169	CTC1	-	mim2gene	OMIM:612199
HP:0004349	Reduced bone mineral density	4784	NFIX		orphadata	ORPHA:561
HP:0004349	Reduced bone mineral density	4313	MMP2		orphadata	ORPHA:371428
HP:0004349	Reduced bone mineral density	2626	GATA4		orphadata	ORPHA:251510
HP:0004349	Reduced bone mineral density	79983	POF1B	question	mim2gene	OMIM:300604
HP:0004349	Reduced bone mineral density	5450	POU2AF1		orphadata	ORPHA:186
HP:0004349	Reduced bone mineral density	3730	ANOS1		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	118429	ANTXR2		orphadata	ORPHA:2176
HP:0004349	Reduced bone mineral density	5193	PEX12	-	mim2gene	OMIM:266510
HP:0004349	Reduced bone mineral density	6774	STAT3	-	mim2gene	OMIM:147060
HP:0004349	Reduced bone mineral density	7015	TERT	susceptibility	mim2gene	OMIM:613989
HP:0004349	Reduced bone mineral density	7681	MKRN3	-	mim2gene	OMIM:176270
HP:0004349	Reduced bone mineral density	3043	HBB		orphadata	ORPHA:232
HP:0004349	Reduced bone mineral density	55505	NOP10	-	mim2gene	OMIM:224230
HP:0004349	Reduced bone mineral density	23767	FLRT3		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	79633	FAT4	-	mim2gene	OMIM:615546
HP:0004349	Reduced bone mineral density	4041	LRP5	-	mim2gene	OMIM:601813
HP:0004349	Reduced bone mineral density	10269	ZMPSTE24		orphadata	ORPHA:1662
HP:0004349	Reduced bone mineral density	2516	NR5A1		orphadata	ORPHA:251510
HP:0004349	Reduced bone mineral density	10892	MALT1	-	mim2gene	OMIM:615468
HP:0004349	Reduced bone mineral density	165	AEBP1	-	mim2gene	OMIM:618000
HP:0004349	Reduced bone mineral density	9150	CTDP1		orphadata	ORPHA:48431
HP:0004349	Reduced bone mineral density	3479	IGF1		orphadata	ORPHA:73272
HP:0004349	Reduced bone mineral density	55768	NGLY1		orphadata	ORPHA:404454
HP:0004349	Reduced bone mineral density	7012	TERC	-	mim2gene	OMIM:127550
HP:0004349	Reduced bone mineral density	2072	ERCC4		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	5373	PMM2	-	mim2gene	OMIM:212065
HP:0004349	Reduced bone mineral density	4882	NPR2	-	mim2gene	OMIM:615923
HP:0004349	Reduced bone mineral density	55033	FKBP14		orphadata	ORPHA:300179
HP:0004349	Reduced bone mineral density	6663	SOX10		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	4952	OCRL	-	mim2gene	OMIM:309000
HP:0004349	Reduced bone mineral density	50940	PDE11A	-	mim2gene	OMIM:610475
HP:0004349	Reduced bone mineral density	6866	TAC3		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	3081	HGD		orphadata	ORPHA:56
HP:0004349	Reduced bone mineral density	2629	GBA		orphadata	ORPHA:77259
HP:0004349	Reduced bone mineral density	285590	SH3PXD2B	-	mim2gene	OMIM:249420
HP:0004349	Reduced bone mineral density	81848	SPRY4		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	80270	HSD3B7	-	mim2gene	OMIM:607765
HP:0004349	Reduced bone mineral density	1294	COL7A1		orphadata	ORPHA:79408
HP:0004349	Reduced bone mineral density	875	CBS	-	mim2gene	OMIM:236200
HP:0004349	Reduced bone mineral density	90993	CREB3L1	-	mim2gene	OMIM:616229
HP:0004349	Reduced bone mineral density	4041	LRP5	susceptibility	mim2gene	OMIM:166710
HP:0004349	Reduced bone mineral density	9131	AIFM1		orphadata	ORPHA:83629
HP:0004349	Reduced bone mineral density	2188	FANCF		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	6424	SFRP4	-	mim2gene	OMIM:265900
HP:0004349	Reduced bone mineral density	26277	TINF2	-	mim2gene	OMIM:127550
HP:0004349	Reduced bone mineral density	3170	FOXA2		orphadata	ORPHA:95494
HP:0004349	Reduced bone mineral density	1962	EHHADH	question	mim2gene	OMIM:615605
HP:0004349	Reduced bone mineral density	7305	TYROBP		orphadata	ORPHA:2770
HP:0004349	Reduced bone mineral density	9509	ADAMTS2	-	mim2gene	OMIM:225410
HP:0004349	Reduced bone mineral density	3479	IGF1	-	mim2gene	OMIM:608747
HP:0004349	Reduced bone mineral density	2492	FSHR	-	mim2gene	OMIM:233300
HP:0004349	Reduced bone mineral density	57520	HECW2	-	mim2gene	OMIM:617268
HP:0004349	Reduced bone mineral density	2201	FBN2	-	mim2gene	OMIM:121050
HP:0004349	Reduced bone mineral density	5832	ALDH18A1	-	mim2gene	OMIM:616603
HP:0004349	Reduced bone mineral density	5351	PLOD1	-	mim2gene	OMIM:225400
HP:0004349	Reduced bone mineral density	23414	ZFPM2		orphadata	ORPHA:251510
HP:0004349	Reduced bone mineral density	9056	SLC7A7		orphadata	ORPHA:470
HP:0004349	Reduced bone mineral density	10484	SEC23A	-	mim2gene	OMIM:607812
HP:0004349	Reduced bone mineral density	6578	SLCO2A1		orphadata	ORPHA:2796
HP:0004349	Reduced bone mineral density	79158	GNPTAB	-	mim2gene	OMIM:252500
HP:0004349	Reduced bone mineral density	51085	MLXIPL	-	mim2gene	OMIM:194050
HP:0004349	Reduced bone mineral density	673	BRAF	-	mim2gene	OMIM:115150
HP:0004349	Reduced bone mineral density	64072	CDH23		orphadata	ORPHA:91347
HP:0004349	Reduced bone mineral density	7461	CLIP2		orphadata	ORPHA:904
HP:0004349	Reduced bone mineral density	650	BMP2	susceptibility; modifier	mim2gene	OMIM:235200
HP:0004349	Reduced bone mineral density	8733	GPAA1		orphadata	ORPHA:529665
HP:0004349	Reduced bone mineral density	89780	WNT3A		orphadata	ORPHA:85193
HP:0004349	Reduced bone mineral density	1184	CLCN5	-	mim2gene	OMIM:300554
HP:0004349	Reduced bone mineral density	1278	COL1A2	-	mim2gene	OMIM:259420
HP:0004349	Reduced bone mineral density	60675	PROK2		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	11107	PRDM5		orphadata	ORPHA:90354
HP:0004349	Reduced bone mineral density	5167	ENPP1	-	mim2gene	OMIM:208000
HP:0004349	Reduced bone mineral density	8572	PDLIM4	susceptibility	mim2gene	OMIM:166710
HP:0004349	Reduced bone mineral density	6609	SMPD1		orphadata	ORPHA:77293
HP:0004349	Reduced bone mineral density	2798	GNRHR		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	84634	KISS1R		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	9394	HS6ST1		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	89970	RSPRY1	-	mim2gene	OMIM:616723
HP:0004349	Reduced bone mineral density	55275	VPS53	-	mim2gene	OMIM:615851
HP:0004349	Reduced bone mineral density	4869	NPM1		orphadata	ORPHA:1775
HP:0004349	Reduced bone mineral density	547	KIF1A		orphadata	ORPHA:970
HP:0004349	Reduced bone mineral density	22930	RAB3GAP1	-	mim2gene	OMIM:600118
HP:0004349	Reduced bone mineral density	26608	TBL2		orphadata	ORPHA:904
HP:0004349	Reduced bone mineral density	58524	DMRT3		orphadata	ORPHA:251510
HP:0004349	Reduced bone mineral density	860	RUNX2		orphadata	ORPHA:1452
HP:0004349	Reduced bone mineral density	3845	KRAS	-	mim2gene	OMIM:163200
HP:0004349	Reduced bone mineral density	9049	AIP		orphadata	ORPHA:2965
HP:0004349	Reduced bone mineral density	57817	HAMP		orphadata	ORPHA:79230
HP:0004349	Reduced bone mineral density	112752	IFT43		orphadata	ORPHA:1515
HP:0004349	Reduced bone mineral density	80067	DCAF17		orphadata	ORPHA:3464
HP:0004349	Reduced bone mineral density	538	ATP7A	-	mim2gene	OMIM:309400
HP:0004349	Reduced bone mineral density	338433	SNORD115-1	-	mim2gene	OMIM:176270
HP:0004349	Reduced bone mineral density	26503	SLC17A5	-	mim2gene	OMIM:269920
HP:0004349	Reduced bone mineral density	2184	FAH	-	mim2gene	OMIM:276700
HP:0004349	Reduced bone mineral density	6689	SPIB		orphadata	ORPHA:186
HP:0004349	Reduced bone mineral density	3339	HSPG2	-	mim2gene	OMIM:255800
HP:0004349	Reduced bone mineral density	4485	MST1		orphadata	ORPHA:171
HP:0004349	Reduced bone mineral density	2189	FANCG		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	7471	WNT1		orphadata	ORPHA:85193
HP:0004349	Reduced bone mineral density	595	CCND1		orphadata	ORPHA:29073
HP:0004349	Reduced bone mineral density	134218	DNAJC21	-	mim2gene	OMIM:617052
HP:0004349	Reduced bone mineral density	55764	IFT122		orphadata	ORPHA:1515
HP:0004349	Reduced bone mineral density	2588	GALNS	-	mim2gene	OMIM:253000
HP:0004349	Reduced bone mineral density	79798	ARMC5	-	mim2gene	OMIM:615954
HP:0004349	Reduced bone mineral density	4893	NRAS	-	mim2gene	OMIM:163200
HP:0004349	Reduced bone mineral density	91252	SLC39A13		orphadata	ORPHA:157965
HP:0004349	Reduced bone mineral density	2778	GNAS	-	mim2gene	OMIM:612462
HP:0004349	Reduced bone mineral density	3594	IL12RB1		orphadata	ORPHA:186
HP:0004349	Reduced bone mineral density	79258	MMEL1		orphadata	ORPHA:186
HP:0004349	Reduced bone mineral density	4312	MMP1		orphadata	ORPHA:79408
HP:0004349	Reduced bone mineral density	8822	FGF17		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	56945	MRPS22		orphadata	ORPHA:243
HP:0004349	Reduced bone mineral density	760	CA2		orphadata	ORPHA:2785
HP:0004349	Reduced bone mineral density	3295	HSD17B4	-	mim2gene	OMIM:261515
HP:0004349	Reduced bone mineral density	4088	SMAD3		orphadata	ORPHA:284984
HP:0004349	Reduced bone mineral density	1278	COL1A2	-	mim2gene	OMIM:166220
HP:0004349	Reduced bone mineral density	8924	HERC2	-	mim2gene	OMIM:176270
HP:0004349	Reduced bone mineral density	3977	LIFR		orphadata	ORPHA:3206
HP:0004349	Reduced bone mineral density	1588	CYP19A1		orphadata	ORPHA:91
HP:0004349	Reduced bone mineral density	7421	VDR		orphadata	ORPHA:93160
HP:0004349	Reduced bone mineral density	51741	WWOX		orphadata	ORPHA:251510
HP:0004349	Reduced bone mineral density	1528	CYB5A		orphadata	ORPHA:90796
HP:0004349	Reduced bone mineral density	9056	SLC7A7	-	mim2gene	OMIM:222700
HP:0004349	Reduced bone mineral density	2969	GTF2I		orphadata	ORPHA:904
HP:0004349	Reduced bone mineral density	55764	IFT122	-	mim2gene	OMIM:218330
HP:0004349	Reduced bone mineral density	4982	TNFRSF11B		orphadata	ORPHA:2801
HP:0004349	Reduced bone mineral density	6870	TACR3		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	4247	MGAT2	-	mim2gene	OMIM:212066
HP:0004349	Reduced bone mineral density	60681	FKBP10		orphadata	ORPHA:2771
HP:0004349	Reduced bone mineral density	8726	EED	-	mim2gene	OMIM:617561
HP:0004349	Reduced bone mineral density	55699	IARS2	question	mim2gene	OMIM:616007
HP:0004349	Reduced bone mineral density	3077	HFE		orphadata	ORPHA:465508
HP:0004349	Reduced bone mineral density	4041	LRP5	-	mim2gene	OMIM:259770
HP:0004349	Reduced bone mineral density	3914	LAMB3		orphadata	ORPHA:79404
HP:0004349	Reduced bone mineral density	5626	PROP1		orphadata	ORPHA:90695
HP:0004349	Reduced bone mineral density	136647	MPLKIP		orphadata	ORPHA:33364
HP:0004349	Reduced bone mineral density	846	CASR		orphadata	ORPHA:428
HP:0004349	Reduced bone mineral density	2353	FOS		orphadata	ORPHA:528
HP:0004349	Reduced bone mineral density	9049	AIP	-	mim2gene	OMIM:219090
HP:0004349	Reduced bone mineral density	9935	MAFB	-	mim2gene	OMIM:166300
HP:0004349	Reduced bone mineral density	3172	HNF4A	-	mim2gene	OMIM:616026
HP:0004349	Reduced bone mineral density	23742	NPAP1	-	mim2gene	OMIM:176270
HP:0004349	Reduced bone mineral density	1277	COL1A1	susceptibility; QTL 1	mim2gene	OMIM:166710
HP:0004349	Reduced bone mineral density	50628	GEMIN4	-	mim2gene	OMIM:617913
HP:0004349	Reduced bone mineral density	1848	DUSP6		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	6729	SRP54		orphadata	ORPHA:486
HP:0004349	Reduced bone mineral density	1586	CYP17A1		orphadata	ORPHA:90793
HP:0004349	Reduced bone mineral density	6778	STAT6		orphadata	ORPHA:2126
HP:0004349	Reduced bone mineral density	9321	TRIP11	-	mim2gene	OMIM:184260
HP:0004349	Reduced bone mineral density	55768	NGLY1	-	mim2gene	OMIM:615273
HP:0004349	Reduced bone mineral density	2778	GNAS		orphadata	ORPHA:562
HP:0004349	Reduced bone mineral density	4796	TONSL		orphadata	ORPHA:93357
HP:0004349	Reduced bone mineral density	57122	NUP107		orphadata	ORPHA:243
HP:0004349	Reduced bone mineral density	4221	MEN1		orphadata	ORPHA:99879
HP:0004349	Reduced bone mineral density	5428	POLG		orphadata	ORPHA:254892
HP:0004349	Reduced bone mineral density	857	CAV1		orphadata	ORPHA:528
HP:0004349	Reduced bone mineral density	2187	FANCB		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	8642	DCHS1	-	mim2gene	OMIM:601390
HP:0004349	Reduced bone mineral density	79631	EFL1		orphadata	ORPHA:811
HP:0004349	Reduced bone mineral density	8074	FGF23		orphadata	ORPHA:89937
HP:0004349	Reduced bone mineral density	7227	TRPS1	-	mim2gene	OMIM:190350
HP:0004349	Reduced bone mineral density	5888	RAD51		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	5618	PRLR		orphadata	ORPHA:397685
HP:0004349	Reduced bone mineral density	54209	TREM2		orphadata	ORPHA:2770
HP:0004349	Reduced bone mineral density	9719	ADAMTSL2	-	mim2gene	OMIM:231050
HP:0004349	Reduced bone mineral density	249	ALPL	-	mim2gene	OMIM:146300
HP:0004349	Reduced bone mineral density	2177	FANCD2		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	11128	POLR3A		orphadata	ORPHA:3455
HP:0004349	Reduced bone mineral density	5449	POU1F1		orphadata	ORPHA:95494
HP:0004349	Reduced bone mineral density	9382	COG1		orphadata	ORPHA:263508
HP:0004349	Reduced bone mineral density	55717	WDR11		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	5159	PDGFRB	-	mim2gene	OMIM:601812
HP:0004349	Reduced bone mineral density	5251	PHEX		orphadata	ORPHA:89936
HP:0004349	Reduced bone mineral density	2778	GNAS	-	mim2gene	OMIM:103580
HP:0004349	Reduced bone mineral density	9509	ADAMTS2		orphadata	ORPHA:1901
HP:0004349	Reduced bone mineral density	799	CALCR	susceptibility	mim2gene	OMIM:166710
HP:0004349	Reduced bone mineral density	4853	NOTCH2		orphadata	ORPHA:955
HP:0004349	Reduced bone mineral density	7486	WRN	-	mim2gene	OMIM:277700
HP:0004349	Reduced bone mineral density	114548	NLRP3		orphadata	ORPHA:1451
HP:0004349	Reduced bone mineral density	29887	SNX10		orphadata	ORPHA:667
HP:0004349	Reduced bone mineral density	6309	SC5D	-	mim2gene	OMIM:607330
HP:0004349	Reduced bone mineral density	64116	SLC39A8	-	mim2gene	OMIM:616721
HP:0004349	Reduced bone mineral density	1650	DDOST		orphadata	ORPHA:300536
HP:0004349	Reduced bone mineral density	672	BRCA1		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	4323	MMP14	question	mim2gene	OMIM:277950
HP:0004349	Reduced bone mineral density	1586	CYP17A1		orphadata	ORPHA:90796
HP:0004349	Reduced bone mineral density	51750	RTEL1		orphadata	ORPHA:1775
HP:0004349	Reduced bone mineral density	3730	ANOS1		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	26012	NSMF		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	3954	LETM1		orphadata	ORPHA:280
HP:0004349	Reduced bone mineral density	6609	SMPD1	-	mim2gene	OMIM:257200
HP:0004349	Reduced bone mineral density	3265	HRAS	-	mim2gene	OMIM:163200
HP:0004349	Reduced bone mineral density	9247	GCM2	-	mim2gene	OMIM:617343
HP:0004349	Reduced bone mineral density	540	ATP7B	-	mim2gene	OMIM:277900
HP:0004349	Reduced bone mineral density	54941	RNF125	-	mim2gene	OMIM:616260
HP:0004349	Reduced bone mineral density	551	AVP	-	mim2gene	OMIM:125700
HP:0004349	Reduced bone mineral density	2710	GK	-	mim2gene	OMIM:307030
HP:0004349	Reduced bone mineral density	54463	RETREG1		orphadata	ORPHA:970
HP:0004349	Reduced bone mineral density	8733	GPAA1	-	mim2gene	OMIM:617810
HP:0004349	Reduced bone mineral density	203859	ANO5	-	mim2gene	OMIM:166260
HP:0004349	Reduced bone mineral density	9101	USP8		orphadata	ORPHA:96253
HP:0004349	Reduced bone mineral density	7516	XRCC2		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	285025	CCDC141		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	10516	FBLN5		orphadata	ORPHA:90349
HP:0004349	Reduced bone mineral density	60681	FKBP10	-	mim2gene	OMIM:259450
HP:0004349	Reduced bone mineral density	6718	AKR1D1		orphadata	ORPHA:79303
HP:0004349	Reduced bone mineral density	5696	PSMB8	-	mim2gene	OMIM:256040
HP:0004349	Reduced bone mineral density	54453	RIN2	-	mim2gene	OMIM:613075
HP:0004349	Reduced bone mineral density	3339	HSPG2		orphadata	ORPHA:800
HP:0004349	Reduced bone mineral density	367	AR		orphadata	ORPHA:99429
HP:0004349	Reduced bone mineral density	3758	KCNJ1	-	mim2gene	OMIM:241200
HP:0004349	Reduced bone mineral density	5573	PRKAR1A		orphadata	ORPHA:189439
HP:0004349	Reduced bone mineral density	3295	HSD17B4	-	mim2gene	OMIM:233400
HP:0004349	Reduced bone mineral density	4692	NDN	-	mim2gene	OMIM:176270
HP:0004349	Reduced bone mineral density	80270	HSD3B7		orphadata	ORPHA:79301
HP:0004349	Reduced bone mineral density	5352	PLOD2	-	mim2gene	OMIM:609220
HP:0004349	Reduced bone mineral density	121340	SP7	-	mim2gene	OMIM:613849
HP:0004349	Reduced bone mineral density	427	ASAH1		orphadata	ORPHA:333
HP:0004349	Reduced bone mineral density	1848	DUSP6		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	5566	PRKACA	-	mim2gene	OMIM:615830
HP:0004349	Reduced bone mineral density	55120	FANCL		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	30008	EFEMP2		orphadata	ORPHA:90349
HP:0004349	Reduced bone mineral density	79991	STN1	-	mim2gene	OMIM:617341
HP:0004349	Reduced bone mineral density	6557	SLC12A1	-	mim2gene	OMIM:601678
HP:0004349	Reduced bone mineral density	5184	PEPD		orphadata	ORPHA:742
HP:0004349	Reduced bone mineral density	2961	GTF2E2		orphadata	ORPHA:33364
HP:0004349	Reduced bone mineral density	79577	CDC73		orphadata	ORPHA:99879
HP:0004349	Reduced bone mineral density	8820	HESX1		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	4000	LMNA	-	mim2gene	OMIM:176670
HP:0004349	Reduced bone mineral density	5251	PHEX	-	mim2gene	OMIM:307800
HP:0004349	Reduced bone mineral density	55135	WRAP53		orphadata	ORPHA:1775
HP:0004349	Reduced bone mineral density	3592	IL12A		orphadata	ORPHA:186
HP:0004349	Reduced bone mineral density	29968	PSAT1		orphadata	ORPHA:2671
HP:0004349	Reduced bone mineral density	6521	SLC4A1	-	mim2gene	OMIM:179800
HP:0004349	Reduced bone mineral density	2516	NR5A1		orphadata	ORPHA:243
HP:0004349	Reduced bone mineral density	1736	DKC1		orphadata	ORPHA:1775
HP:0004349	Reduced bone mineral density	50484	RRM2B		orphadata	ORPHA:254892
HP:0004349	Reduced bone mineral density	84992	PIGY	-	mim2gene	OMIM:616809
HP:0004349	Reduced bone mineral density	4000	LMNA		orphadata	ORPHA:1662
HP:0004349	Reduced bone mineral density	65125	WNK1		orphadata	ORPHA:970
HP:0004349	Reduced bone mineral density	1991	ELANE		orphadata	ORPHA:486
HP:0004349	Reduced bone mineral density	2100	ESR2	question	mim2gene	OMIM:618187
HP:0004349	Reduced bone mineral density	142680	SLC34A3	-	mim2gene	OMIM:241530
HP:0004349	Reduced bone mineral density	58484	NLRC4		orphadata	ORPHA:1451
HP:0004349	Reduced bone mineral density	9419	CRIPT	-	mim2gene	OMIM:615789
HP:0004349	Reduced bone mineral density	64412	GZF1	-	mim2gene	OMIM:617662
HP:0004349	Reduced bone mineral density	2717	GLA		orphadata	ORPHA:324
HP:0004349	Reduced bone mineral density	6774	STAT3		orphadata	ORPHA:2314
HP:0004349	Reduced bone mineral density	8792	TNFRSF11A		orphadata	ORPHA:2801
HP:0004349	Reduced bone mineral density	64132	XYLT2	-	mim2gene	OMIM:605822
HP:0004349	Reduced bone mineral density	79577	CDC73		orphadata	ORPHA:99880
HP:0004349	Reduced bone mineral density	2778	GNAS	-	mim2gene	OMIM:219080
HP:0004349	Reduced bone mineral density	6497	SKI	-	mim2gene	OMIM:182212
HP:0004349	Reduced bone mineral density	7421	VDR	question	mim2gene	OMIM:166710
HP:0004349	Reduced bone mineral density	8818	DPM2		orphadata	ORPHA:329178
HP:0004349	Reduced bone mineral density	5468	PPARG		orphadata	ORPHA:528
HP:0004349	Reduced bone mineral density	91252	SLC39A13	-	mim2gene	OMIM:612350
HP:0004349	Reduced bone mineral density	84701	COX4I2	-	mim2gene	OMIM:612714
HP:0004349	Reduced bone mineral density	5889	RAD51C		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	9368	SLC9A3R1	-	mim2gene	OMIM:612287
HP:0004349	Reduced bone mineral density	100033413	SNORD116-1	-	mim2gene	OMIM:176270
HP:0004349	Reduced bone mineral density	6845	VAMP7		orphadata	ORPHA:251510
HP:0004349	Reduced bone mineral density	2074	ERCC6	-	mim2gene	OMIM:133540
HP:0004349	Reduced bone mineral density	6335	SCN9A		orphadata	ORPHA:970
HP:0004349	Reduced bone mineral density	2260	FGFR1		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	6611	SMS	-	mim2gene	OMIM:309583
HP:0004349	Reduced bone mineral density	3248	HPGD	-	mim2gene	OMIM:259100
HP:0004349	Reduced bone mineral density	1277	COL1A1	-	mim2gene	OMIM:130060
HP:0004349	Reduced bone mineral density	9031	BAZ1B		orphadata	ORPHA:904
HP:0004349	Reduced bone mineral density	2068	ERCC2		orphadata	ORPHA:33364
HP:0004349	Reduced bone mineral density	55603	TENT5A	-	mim2gene	OMIM:617952
HP:0004349	Reduced bone mineral density	6135	RPL11	-	mim2gene	OMIM:612562
HP:0004349	Reduced bone mineral density	4668	NAGA	-	mim2gene	OMIM:609241
HP:0004349	Reduced bone mineral density	26012	NSMF		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	3284	HSD3B2		orphadata	ORPHA:90791
HP:0004349	Reduced bone mineral density	6569	SLC34A1	question	mim2gene	OMIM:613388
HP:0004349	Reduced bone mineral density	5352	PLOD2		orphadata	ORPHA:2771
HP:0004349	Reduced bone mineral density	5015	OTX2		orphadata	ORPHA:95494
HP:0004349	Reduced bone mineral density	60675	PROK2		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	2778	GNAS	-	mim2gene	OMIM:612463
HP:0004349	Reduced bone mineral density	23545	ATP6V0A2		orphadata	ORPHA:2834
HP:0004349	Reduced bone mineral density	6611	SMS		orphadata	ORPHA:3063
HP:0004349	Reduced bone mineral density	6897	TARS1		orphadata	ORPHA:33364
HP:0004349	Reduced bone mineral density	10312	TCIRG1		orphadata	ORPHA:486
HP:0004349	Reduced bone mineral density	55159	RFWD3		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	2778	GNAS		orphadata	ORPHA:189427
HP:0004349	Reduced bone mineral density	5982	RFC2		orphadata	ORPHA:904
HP:0004349	Reduced bone mineral density	166929	SGMS2	-	mim2gene	OMIM:126550
HP:0004349	Reduced bone mineral density	649	BMP1	-	mim2gene	OMIM:614856
HP:0004349	Reduced bone mineral density	9842	PLEKHM1	-	mim2gene	OMIM:618107
HP:0004349	Reduced bone mineral density	7390	UROS	-	mim2gene	OMIM:263700
HP:0004349	Reduced bone mineral density	2253	FGF8		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	4323	MMP14		orphadata	ORPHA:371428
HP:0004349	Reduced bone mineral density	55505	NOP10		orphadata	ORPHA:1775
HP:0004349	Reduced bone mineral density	7421	VDR	-	mim2gene	OMIM:277440
HP:0004349	Reduced bone mineral density	5745	PTH1R	-	mim2gene	OMIM:156400
HP:0004349	Reduced bone mineral density	10265	IRX5	-	mim2gene	OMIM:611174
HP:0004349	Reduced bone mineral density	2542	SLC37A4	-	mim2gene	OMIM:232220
HP:0004349	Reduced bone mineral density	55651	NHP2		orphadata	ORPHA:1775
HP:0004349	Reduced bone mineral density	11285	B4GALT7		orphadata	ORPHA:75496
HP:0004349	Reduced bone mineral density	6736	SRY		orphadata	ORPHA:251510
HP:0004349	Reduced bone mineral density	56652	TWNK		orphadata	ORPHA:254892
HP:0004349	Reduced bone mineral density	1184	CLCN5	-	mim2gene	OMIM:300009
HP:0004349	Reduced bone mineral density	9569	GTF2IRD1		orphadata	ORPHA:904
HP:0004349	Reduced bone mineral density	5626	PROP1		orphadata	ORPHA:95494
HP:0004349	Reduced bone mineral density	64116	SLC39A8		orphadata	ORPHA:468699
HP:0004349	Reduced bone mineral density	8820	HESX1		orphadata	ORPHA:95494
HP:0004349	Reduced bone mineral density	2796	GNRH1		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	55215	FANCI		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	5424	POLD1	-	mim2gene	OMIM:615381
HP:0004349	Reduced bone mineral density	8074	FGF23	-	mim2gene	OMIM:193100
HP:0004349	Reduced bone mineral density	7468	NSD2		orphadata	ORPHA:280
HP:0004349	Reduced bone mineral density	4214	MAP3K1		orphadata	ORPHA:251510
HP:0004349	Reduced bone mineral density	5073	PARN		orphadata	ORPHA:1775
HP:0004349	Reduced bone mineral density	2672	GFI1		orphadata	ORPHA:486
HP:0004349	Reduced bone mineral density	8822	FGF17	-	mim2gene	OMIM:615270
HP:0004349	Reduced bone mineral density	26580	BSCL2		orphadata	ORPHA:528
HP:0004349	Reduced bone mineral density	50940	PDE11A		orphadata	ORPHA:189439
HP:0004349	Reduced bone mineral density	64072	CDH23		orphadata	ORPHA:2965
HP:0004349	Reduced bone mineral density	7737	RNF113A		orphadata	ORPHA:33364
HP:0004349	Reduced bone mineral density	10459	MAD2L2		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	23545	ATP6V0A2	-	mim2gene	OMIM:278250
HP:0004349	Reduced bone mineral density	1175	AP2S1	-	mim2gene	OMIM:600740
HP:0004349	Reduced bone mineral density	5373	PMM2		orphadata	ORPHA:79318
HP:0004349	Reduced bone mineral density	9966	TNFSF15		orphadata	ORPHA:186
HP:0004349	Reduced bone mineral density	93587	TRMT10A	-	mim2gene	OMIM:616033
HP:0004349	Reduced bone mineral density	23514	SPIDR		orphadata	ORPHA:243
HP:0004349	Reduced bone mineral density	860	RUNX2	-	mim2gene	OMIM:156510
HP:0004349	Reduced bone mineral density	5447	POR		orphadata	ORPHA:95699
HP:0004349	Reduced bone mineral density	10371	SEMA3A		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	2623	GATA1		orphadata	ORPHA:79277
HP:0004349	Reduced bone mineral density	791114	PWRN1	-	mim2gene	OMIM:176270
HP:0004349	Reduced bone mineral density	79650	USB1		orphadata	ORPHA:1775
HP:0004349	Reduced bone mineral density	1758	DMP1	-	mim2gene	OMIM:241520
HP:0004349	Reduced bone mineral density	51119	SBDS		orphadata	ORPHA:811
HP:0004349	Reduced bone mineral density	5831	PYCR1		orphadata	ORPHA:2078
HP:0004349	Reduced bone mineral density	2492	FSHR		orphadata	ORPHA:243
HP:0004349	Reduced bone mineral density	51098	IFT52		orphadata	ORPHA:1515
HP:0004349	Reduced bone mineral density	2859	GPR35		orphadata	ORPHA:171
HP:0004349	Reduced bone mineral density	60675	PROK2	-	mim2gene	OMIM:610628
HP:0004349	Reduced bone mineral density	2175	FANCA		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	6772	STAT1		orphadata	ORPHA:391487
HP:0004349	Reduced bone mineral density	1497	CTNS	-	mim2gene	OMIM:219800
HP:0004349	Reduced bone mineral density	5096	PCCB	-	mim2gene	OMIM:606054
HP:0004349	Reduced bone mineral density	118429	ANTXR2	-	mim2gene	OMIM:228600
HP:0004349	Reduced bone mineral density	54756	IL17RD	-	mim2gene	OMIM:615267
HP:0004349	Reduced bone mineral density	3930	LBR	-	mim2gene	OMIM:215140
HP:0004349	Reduced bone mineral density	84634	KISS1R		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	9871	SEC24D	-	mim2gene	OMIM:616294
HP:0004349	Reduced bone mineral density	29893	PSMC3IP		orphadata	ORPHA:243
HP:0004349	Reduced bone mineral density	3248	HPGD		orphadata	ORPHA:2796
HP:0004349	Reduced bone mineral density	142680	SLC34A3		orphadata	ORPHA:157215
HP:0004349	Reduced bone mineral density	84464	SLX4		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	7015	TERT	-	mim2gene	OMIM:127550
HP:0004349	Reduced bone mineral density	6521	SLC4A1	-	mim2gene	OMIM:611590
HP:0004349	Reduced bone mineral density	26227	PHGDH		orphadata	ORPHA:2671
HP:0004349	Reduced bone mineral density	9394	HS6ST1		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	55151	TMEM38B	-	mim2gene	OMIM:615066
HP:0004349	Reduced bone mineral density	202018	TAPT1	-	mim2gene	OMIM:616897
HP:0004349	Reduced bone mineral density	1186	CLCN7		orphadata	ORPHA:667
HP:0004349	Reduced bone mineral density	387733	IFITM5	-	mim2gene	OMIM:610967
HP:0004349	Reduced bone mineral density	9451	EIF2AK3	-	mim2gene	OMIM:226980
HP:0004349	Reduced bone mineral density	10056	FARSB	-	mim2gene	OMIM:613658
HP:0004349	Reduced bone mineral density	9101	USP8	-	mim2gene	OMIM:219090
HP:0004349	Reduced bone mineral density	6678	SPARC	-	mim2gene	OMIM:616507
HP:0004349	Reduced bone mineral density	5167	ENPP1	-	mim2gene	OMIM:613312
HP:0004349	Reduced bone mineral density	2006	ELN		orphadata	ORPHA:904
HP:0004349	Reduced bone mineral density	169792	GLIS3	-	mim2gene	OMIM:610199
HP:0004349	Reduced bone mineral density	5831	PYCR1	-	mim2gene	OMIM:612940
HP:0004349	Reduced bone mineral density	134218	DNAJC21		orphadata	ORPHA:811
HP:0004349	Reduced bone mineral density	50485	SMARCAL1	-	mim2gene	OMIM:242900
HP:0004349	Reduced bone mineral density	284119	CAVIN1		orphadata	ORPHA:528
HP:0004349	Reduced bone mineral density	2263	FGFR2		orphadata	ORPHA:313855
HP:0004349	Reduced bone mineral density	79728	PALB2		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	1594	CYP27B1		orphadata	ORPHA:289157
HP:0004349	Reduced bone mineral density	4041	LRP5		orphadata	ORPHA:2788
HP:0004349	Reduced bone mineral density	2052	EPHX1	question	mim2gene	OMIM:607748
HP:0004349	Reduced bone mineral density	4040	LRP6	susceptibility	mim2gene	OMIM:610947
HP:0004349	Reduced bone mineral density	57539	WDR35		orphadata	ORPHA:1515
HP:0004349	Reduced bone mineral density	5566	PRKACA		orphadata	ORPHA:189439
HP:0004349	Reduced bone mineral density	291	SLC25A4		orphadata	ORPHA:254892
HP:0004349	Reduced bone mineral density	2178	FANCE		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	2530	FUT8	-	mim2gene	OMIM:618005
HP:0004349	Reduced bone mineral density	57697	FANCM		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	6569	SLC34A1	-	mim2gene	OMIM:612286
HP:0004349	Reduced bone mineral density	148738	HJV		orphadata	ORPHA:79230
HP:0004349	Reduced bone mineral density	1278	COL1A2	susceptibility	mim2gene	OMIM:166710
HP:0004349	Reduced bone mineral density	2099	ESR1		orphadata	ORPHA:785
HP:0004349	Reduced bone mineral density	81848	SPRY4		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	2006	ELN	-	mim2gene	OMIM:194050
HP:0004349	Reduced bone mineral density	389549	FEZF1		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	6870	TACR3		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	57728	WDR19		orphadata	ORPHA:1515
HP:0004349	Reduced bone mineral density	1848	DUSP6	-	mim2gene	OMIM:615269
HP:0004349	Reduced bone mineral density	55717	WDR11		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	4853	NOTCH2	-	mim2gene	OMIM:102500
HP:0004349	Reduced bone mineral density	126792	B3GALT6	-	mim2gene	OMIM:271640
HP:0004349	Reduced bone mineral density	9382	COG1	-	mim2gene	OMIM:611209
HP:0004349	Reduced bone mineral density	9414	TJP2	-	mim2gene	OMIM:607748
HP:0004349	Reduced bone mineral density	5426	POLE	-	mim2gene	OMIM:618336
HP:0004349	Reduced bone mineral density	6514	SLC2A2	-	mim2gene	OMIM:227810
HP:0004349	Reduced bone mineral density	55858	TMEM165	-	mim2gene	OMIM:614727
HP:0004349	Reduced bone mineral density	538	ATP7A	-	mim2gene	OMIM:304150
HP:0004349	Reduced bone mineral density	6497	SKI		orphadata	ORPHA:2462
HP:0004349	Reduced bone mineral density	10491	CRTAP	-	mim2gene	OMIM:610682
HP:0004349	Reduced bone mineral density	4507	MTAP	-	mim2gene	OMIM:112250
HP:0004349	Reduced bone mineral density	64135	IFIH1	-	mim2gene	OMIM:182250
HP:0004349	Reduced bone mineral density	284119	CAVIN1	-	mim2gene	OMIM:613327
HP:0004349	Reduced bone mineral density	9451	EIF2AK3		orphadata	ORPHA:1667
HP:0004349	Reduced bone mineral density	538	ATP7A		orphadata	ORPHA:198
HP:0004349	Reduced bone mineral density	120227	CYP2R1	-	mim2gene	OMIM:600081
HP:0004349	Reduced bone mineral density	55636	CHD7		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	23534	TNPO3		orphadata	ORPHA:186
HP:0004349	Reduced bone mineral density	10060	ABCC9	-	mim2gene	OMIM:239850
HP:0004349	Reduced bone mineral density	6638	SNRPN	-	mim2gene	OMIM:176270
HP:0004349	Reduced bone mineral density	3977	LIFR	-	mim2gene	OMIM:601559
HP:0004349	Reduced bone mineral density	8600	TNFSF11		orphadata	ORPHA:667
HP:0004349	Reduced bone mineral density	538	ATP7A		orphadata	ORPHA:565
HP:0004349	Reduced bone mineral density	2767	GNA11		orphadata	ORPHA:428
HP:0004349	Reduced bone mineral density	203859	ANO5		orphadata	ORPHA:53697
HP:0004349	Reduced bone mineral density	84627	ZNF469		orphadata	ORPHA:90354
HP:0004349	Reduced bone mineral density	1497	CTNS	-	mim2gene	OMIM:219900
HP:0004349	Reduced bone mineral density	285025	CCDC141		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	871	SERPINH1	-	mim2gene	OMIM:613848
HP:0004349	Reduced bone mineral density	11285	B4GALT7	-	mim2gene	OMIM:130070
HP:0004349	Reduced bone mineral density	9469	CHST3	-	mim2gene	OMIM:143095
HP:0004349	Reduced bone mineral density	4000	LMNA		orphadata	ORPHA:79474
HP:0004349	Reduced bone mineral density	3653	IPW	-	mim2gene	OMIM:176270
HP:0004349	Reduced bone mineral density	11232	POLG2		orphadata	ORPHA:254892
HP:0004349	Reduced bone mineral density	2074	ERCC6	-	mim2gene	OMIM:214150
HP:0004349	Reduced bone mineral density	7012	TERC		orphadata	ORPHA:1775
HP:0004349	Reduced bone mineral density	570	BAAT	-	mim2gene	OMIM:607748
HP:0004349	Reduced bone mineral density	51360	MBTPS2	-	mim2gene	OMIM:301014
HP:0004349	Reduced bone mineral density	8481	OFD1		orphadata	ORPHA:2750
HP:0004349	Reduced bone mineral density	4000	LMNA		orphadata	ORPHA:740
HP:0004349	Reduced bone mineral density	10060	ABCC9		orphadata	ORPHA:1517
HP:0004349	Reduced bone mineral density	2260	FGFR1	-	mim2gene	OMIM:147950
HP:0004349	Reduced bone mineral density	51604	PIGT	-	mim2gene	OMIM:615398
HP:0004349	Reduced bone mineral density	5167	ENPP1		orphadata	ORPHA:289176
HP:0004349	Reduced bone mineral density	6872	TAF1	-	mim2gene	OMIM:300966
HP:0004349	Reduced bone mineral density	80169	CTC1		orphadata	ORPHA:1775
HP:0004349	Reduced bone mineral density	4313	MMP2	-	mim2gene	OMIM:259600
HP:0004349	Reduced bone mineral density	1758	DMP1		orphadata	ORPHA:289176
HP:0004349	Reduced bone mineral density	55636	CHD7		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	89884	LHX4		orphadata	ORPHA:95494
HP:0004349	Reduced bone mineral density	4982	TNFRSF11B	-	mim2gene	OMIM:239000
HP:0004349	Reduced bone mineral density	2736	GLI2		orphadata	ORPHA:95494
HP:0004349	Reduced bone mineral density	26012	NSMF	-	mim2gene	OMIM:614838
HP:0004349	Reduced bone mineral density	9247	GCM2		orphadata	ORPHA:99879
HP:0004349	Reduced bone mineral density	151188	ARL6IP6		orphadata	ORPHA:1556
HP:0004349	Reduced bone mineral density	100151683	RNU4ATAC		orphadata	ORPHA:2636
HP:0004349	Reduced bone mineral density	1630	DCC		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	7469	NELFA		orphadata	ORPHA:280
HP:0004349	Reduced bone mineral density	2538	G6PC	-	mim2gene	OMIM:232200
HP:0004349	Reduced bone mineral density	55811	ADCY10		orphadata	ORPHA:2197
HP:0004349	Reduced bone mineral density	8838	CCN6	-	mim2gene	OMIM:208230
HP:0004349	Reduced bone mineral density	8642	DCHS1		orphadata	ORPHA:314679
HP:0004349	Reduced bone mineral density	92344	GORAB		orphadata	ORPHA:2078
HP:0004349	Reduced bone mineral density	64132	XYLT2		orphadata	ORPHA:85194
HP:0004349	Reduced bone mineral density	3764	KCNJ8		orphadata	ORPHA:1517
HP:0004349	Reduced bone mineral density	2720	GLB1	-	mim2gene	OMIM:253010
HP:0004349	Reduced bone mineral density	2071	ERCC3		orphadata	ORPHA:33364
HP:0004349	Reduced bone mineral density	3984	LIMK1		orphadata	ORPHA:904
HP:0004349	Reduced bone mineral density	64175	P3H1	-	mim2gene	OMIM:610915
HP:0004349	Reduced bone mineral density	51103	NDUFAF1	-	mim2gene	OMIM:618234
HP:0004349	Reduced bone mineral density	8815	BANF1	-	mim2gene	OMIM:614008
HP:0004349	Reduced bone mineral density	9210	BMP15		orphadata	ORPHA:243
HP:0004349	Reduced bone mineral density	9469	CHST3	-	mim2gene	OMIM:245600
HP:0004349	Reduced bone mineral density	23767	FLRT3	-	mim2gene	OMIM:615271
HP:0004349	Reduced bone mineral density	2592	GALT		orphadata	ORPHA:79239
HP:0004349	Reduced bone mineral density	6772	STAT1	-	mim2gene	OMIM:614162
HP:0004349	Reduced bone mineral density	5604	MAP2K1	-	mim2gene	OMIM:615279
HP:0004349	Reduced bone mineral density	675	BRCA2		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	7355	SLC35A2		orphadata	ORPHA:356961
HP:0004349	Reduced bone mineral density	79798	ARMC5		orphadata	ORPHA:189427
HP:0004349	Reduced bone mineral density	213	ALB	-	mim2gene	OMIM:616000
HP:0004349	Reduced bone mineral density	4322	MMP13		orphadata	ORPHA:2501
HP:0004349	Reduced bone mineral density	2200	FBN1		orphadata	ORPHA:2462
HP:0004349	Reduced bone mineral density	54551	MAGEL2	-	mim2gene	OMIM:176270
HP:0004349	Reduced bone mineral density	8985	PLOD3	-	mim2gene	OMIM:612394
HP:0004349	Reduced bone mineral density	3909	LAMA3		orphadata	ORPHA:79404
HP:0004349	Reduced bone mineral density	128674	PROKR2		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	6658	SOX3		orphadata	ORPHA:90695
HP:0004349	Reduced bone mineral density	3077	HFE	-	mim2gene	OMIM:235200
HP:0004349	Reduced bone mineral density	875	CBS		orphadata	ORPHA:394
HP:0004349	Reduced bone mineral density	10108	MKRN3-AS1	-	mim2gene	OMIM:176270
HP:0004349	Reduced bone mineral density	26277	TINF2	-	mim2gene	OMIM:613990
HP:0004349	Reduced bone mineral density	79577	CDC73		orphadata	ORPHA:143
HP:0004349	Reduced bone mineral density	3918	LAMC2		orphadata	ORPHA:79404
HP:0004349	Reduced bone mineral density	3172	HNF4A		orphadata	ORPHA:263455
HP:0004349	Reduced bone mineral density	4665	NAB2		orphadata	ORPHA:2126
HP:0004349	Reduced bone mineral density	145624	PWAR1	-	mim2gene	OMIM:176270
HP:0004349	Reduced bone mineral density	55252	ASXL2	-	mim2gene	OMIM:617190
HP:0004349	Reduced bone mineral density	950	SCARB2		orphadata	ORPHA:77259
HP:0004349	Reduced bone mineral density	1277	COL1A1	-	mim2gene	OMIM:166220
HP:0004349	Reduced bone mineral density	2253	FGF8		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	4952	OCRL		orphadata	ORPHA:534
HP:0004349	Reduced bone mineral density	8622	PDE8B		orphadata	ORPHA:189439
HP:0004349	Reduced bone mineral density	4221	MEN1		orphadata	ORPHA:2965
HP:0004349	Reduced bone mineral density	1584	CYP11B1		orphadata	ORPHA:90795
HP:0004349	Reduced bone mineral density	2184	FAH		orphadata	ORPHA:882
HP:0004349	Reduced bone mineral density	1583	CYP11A1		orphadata	ORPHA:168558
HP:0004349	Reduced bone mineral density	1594	CYP27B1	-	mim2gene	OMIM:264700
HP:0004349	Reduced bone mineral density	4000	LMNA	-	mim2gene	OMIM:212112
HP:0004349	Reduced bone mineral density	6603	SMARCD2	-	mim2gene	OMIM:617475
HP:0004349	Reduced bone mineral density	64072	CDH23		orphadata	ORPHA:96253
HP:0004349	Reduced bone mineral density	8443	GNPAT	-	mim2gene	OMIM:222765
HP:0004349	Reduced bone mineral density	7490	WT1		orphadata	ORPHA:251510
HP:0004349	Reduced bone mineral density	190	NR0B1		orphadata	ORPHA:251510
HP:0004349	Reduced bone mineral density	6925	TCF4		orphadata	ORPHA:171
HP:0004349	Reduced bone mineral density	2778	GNAS		orphadata	ORPHA:79443
HP:0004349	Reduced bone mineral density	60386	SLC25A19		orphadata	ORPHA:99742
HP:0004349	Reduced bone mineral density	55651	NHP2	-	mim2gene	OMIM:224230
HP:0004349	Reduced bone mineral density	3814	KISS1		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	10269	ZMPSTE24		orphadata	ORPHA:740
HP:0004349	Reduced bone mineral density	26137	ZBTB20	-	mim2gene	OMIM:259050
HP:0004349	Reduced bone mineral density	1277	COL1A1	-	mim2gene	OMIM:259420
HP:0004349	Reduced bone mineral density	26277	TINF2		orphadata	ORPHA:1775
HP:0004349	Reduced bone mineral density	6729	SRP54		orphadata	ORPHA:811
HP:0004349	Reduced bone mineral density	2260	FGFR1		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	1736	DKC1	-	mim2gene	OMIM:305000
HP:0004349	Reduced bone mineral density	2099	ESR1	-	mim2gene	OMIM:615363
HP:0004349	Reduced bone mineral density	9401	RECQL4		orphadata	ORPHA:221016
HP:0004349	Reduced bone mineral density	5660	PSAP	-	mim2gene	OMIM:610539
HP:0004349	Reduced bone mineral density	54756	IL17RD		orphadata	ORPHA:478
HP:0004349	Reduced bone mineral density	5358	PLS3	-	mim2gene	OMIM:300910
HP:0004349	Reduced bone mineral density	8822	FGF17		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	3043	HBB		orphadata	ORPHA:231214
HP:0004349	Reduced bone mineral density	285175	UNC80	-	mim2gene	OMIM:616801
HP:0004349	Reduced bone mineral density	8239	USP9X		orphadata	ORPHA:480880
HP:0004349	Reduced bone mineral density	2176	FANCC		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	6714	SRC	question	mim2gene	OMIM:616937
HP:0004349	Reduced bone mineral density	1277	COL1A1	-	mim2gene	OMIM:166200
HP:0004349	Reduced bone mineral density	1497	CTNS		orphadata	ORPHA:411629
HP:0004349	Reduced bone mineral density	7486	WRN		orphadata	ORPHA:902
HP:0004349	Reduced bone mineral density	7390	UROS		orphadata	ORPHA:79277
HP:0004349	Reduced bone mineral density	55033	FKBP14	-	mim2gene	OMIM:614557
HP:0004349	Reduced bone mineral density	83990	BRIP1		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	10312	TCIRG1		orphadata	ORPHA:667
HP:0004349	Reduced bone mineral density	60681	FKBP10	-	mim2gene	OMIM:610968
HP:0004349	Reduced bone mineral density	55503	TRPV6	-	mim2gene	OMIM:618188
HP:0004349	Reduced bone mineral density	128674	PROKR2		orphadata	ORPHA:432
HP:0004349	Reduced bone mineral density	7048	TGFBR2	-	mim2gene	OMIM:610168
HP:0004349	Reduced bone mineral density	5095	PCCA	-	mim2gene	OMIM:606054
HP:0004349	Reduced bone mineral density	3663	IRF5		orphadata	ORPHA:186
HP:0004349	Reduced bone mineral density	79633	FAT4	-	mim2gene	OMIM:616006
HP:0004349	Reduced bone mineral density	84634	KISS1R	-	mim2gene	OMIM:614837
HP:0004349	Reduced bone mineral density	29089	UBE2T		orphadata	ORPHA:84
HP:0004349	Reduced bone mineral density	26229	B3GAT3	-	mim2gene	OMIM:245600
HP:0004349	Reduced bone mineral density	7015	TERT		orphadata	ORPHA:1775
HP:0004349	Reduced bone mineral density	4796	TONSL	-	mim2gene	OMIM:271510
HP:0004349	Reduced bone mineral density	4088	SMAD3	-	mim2gene	OMIM:613795
HP:0004349	Reduced bone mineral density	22943	DKK1		orphadata	ORPHA:85193
HP:0004349	Reduced bone mineral density	368	ABCC6	-	mim2gene	OMIM:614473
HP:0004352	Abnormal circulating purine concentration	3251	HPRT1		orphadata	ORPHA:79233
HP:0004352	Abnormal circulating purine concentration	7840	ALMS1	-	mim2gene	OMIM:203800
HP:0004352	Abnormal circulating purine concentration	4609	MYC		orphadata	ORPHA:543
HP:0004352	Abnormal circulating purine concentration	3155	HMGCL		orphadata	ORPHA:20
HP:0004352	Abnormal circulating purine concentration	5213	PFKM	-	mim2gene	OMIM:232800
HP:0004352	Abnormal circulating purine concentration	4982	TNFRSF11B		orphadata	ORPHA:2801
HP:0004352	Abnormal circulating purine concentration	229	ALDOB		orphadata	ORPHA:469
HP:0004352	Abnormal circulating purine concentration	3155	HMGCL	-	mim2gene	OMIM:246450
HP:0004352	Abnormal circulating purine concentration	38	ACAT1		orphadata	ORPHA:134
HP:0004352	Abnormal circulating purine concentration	5468	PPARG	-	mim2gene	OMIM:604367
HP:0004352	Abnormal circulating purine concentration	7369	UMOD	-	mim2gene	OMIM:603860
HP:0004352	Abnormal circulating purine concentration	7369	UMOD	-	mim2gene	OMIM:162000
HP:0004352	Abnormal circulating purine concentration	6928	HNF1B		orphadata	ORPHA:93111
HP:0004352	Abnormal circulating purine concentration	5631	PRPS1	-	mim2gene	OMIM:300661
HP:0004352	Abnormal circulating purine concentration	5261	PHKG2		orphadata	ORPHA:264580
HP:0004352	Abnormal circulating purine concentration	3251	HPRT1	-	mim2gene	OMIM:300323
HP:0004352	Abnormal circulating purine concentration	5972	REN	-	mim2gene	OMIM:613092
HP:0004352	Abnormal circulating purine concentration	2538	G6PC	-	mim2gene	OMIM:232200
HP:0004352	Abnormal circulating purine concentration	10686	CLDN16	-	mim2gene	OMIM:248250
HP:0004352	Abnormal circulating purine concentration	2542	SLC37A4	-	mim2gene	OMIM:232240
HP:0004352	Abnormal circulating purine concentration	5256	PHKA2		orphadata	ORPHA:264580
HP:0004352	Abnormal circulating purine concentration	4860	PNP	-	mim2gene	OMIM:613179
HP:0004352	Abnormal circulating purine concentration	54938	SARS2	-	mim2gene	OMIM:613845
HP:0004352	Abnormal circulating purine concentration	5468	PPARG		orphadata	ORPHA:79083
HP:0004352	Abnormal circulating purine concentration	56606	SLC2A9	-	mim2gene	OMIM:612076
HP:0004352	Abnormal circulating purine concentration	6514	SLC2A2	-	mim2gene	OMIM:227810
HP:0004352	Abnormal circulating purine concentration	25970	SH2B1		orphadata	ORPHA:261222
HP:0004352	Abnormal circulating purine concentration	3172	HNF4A	-	mim2gene	OMIM:616026
HP:0004352	Abnormal circulating purine concentration	3251	HPRT1		orphadata	ORPHA:510
HP:0004352	Abnormal circulating purine concentration	4337	MOCS1	-	mim2gene	OMIM:252150
HP:0004352	Abnormal circulating purine concentration	116085	SLC22A12	-	mim2gene	OMIM:220150
HP:0004352	Abnormal circulating purine concentration	8792	TNFRSF11A		orphadata	ORPHA:2801
HP:0004352	Abnormal circulating purine concentration	5213	PFKM		orphadata	ORPHA:371
HP:0004352	Abnormal circulating purine concentration	55034	MOCOS	-	mim2gene	OMIM:603592
HP:0004352	Abnormal circulating purine concentration	3172	HNF4A		orphadata	ORPHA:93111
HP:0004352	Abnormal circulating purine concentration	229	ALDOB	-	mim2gene	OMIM:229600
HP:0004352	Abnormal circulating purine concentration	3251	HPRT1	-	mim2gene	OMIM:300322
HP:0004352	Abnormal circulating purine concentration	9451	EIF2AK3		orphadata	ORPHA:1667
HP:0004352	Abnormal circulating purine concentration	4982	TNFRSF11B	-	mim2gene	OMIM:239000
HP:0004352	Abnormal circulating purine concentration	29927	SEC61A1	-	mim2gene	OMIM:617056
HP:0004352	Abnormal circulating purine concentration	7369	UMOD	-	mim2gene	OMIM:609886
HP:0004352	Abnormal circulating purine concentration	2542	SLC37A4	-	mim2gene	OMIM:232220
HP:0004352	Abnormal circulating purine concentration	2203	FBP1		orphadata	ORPHA:348
HP:0004352	Abnormal circulating purine concentration	6928	HNF1B	-	mim2gene	OMIM:137920
HP:0004352	Abnormal circulating purine concentration	7498	XDH	-	mim2gene	OMIM:278300
HP:0004352	Abnormal circulating purine concentration	4582	MUC1	-	mim2gene	OMIM:174000
HP:0004352	Abnormal circulating purine concentration	10243	GPHN	-	mim2gene	OMIM:615501
HP:0004352	Abnormal circulating purine concentration	4338	MOCS2	-	mim2gene	OMIM:252160
HP:0004354	Abnormal circulating carboxylic acid concentration	3664	IRF6		orphadata	ORPHA:1300
HP:0004354	Abnormal circulating carboxylic acid concentration	162417	NAGS		orphadata	ORPHA:927
HP:0004354	Abnormal circulating carboxylic acid concentration	8050	PDHX	-	mim2gene	OMIM:245349
HP:0004354	Abnormal circulating carboxylic acid concentration	191	AHCY		orphadata	ORPHA:88618
HP:0004354	Abnormal circulating carboxylic acid concentration	340024	SLC6A19	-	mim2gene	OMIM:242600
HP:0004354	Abnormal circulating carboxylic acid concentration	4540	ND5		orphadata	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	3000	GUCY2D	-	mim2gene	OMIM:204000
HP:0004354	Abnormal circulating carboxylic acid concentration	27249	MMADHC	-	mim2gene	OMIM:277410
HP:0004354	Abnormal circulating carboxylic acid concentration	27232	GNMT	-	mim2gene	OMIM:606664
HP:0004354	Abnormal circulating carboxylic acid concentration	5826	ABCD4	-	mim2gene	OMIM:614857
HP:0004354	Abnormal circulating carboxylic acid concentration	4578	TRNW		orphadata	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	10295	BCKDK	-	mim2gene	OMIM:614923
HP:0004354	Abnormal circulating carboxylic acid concentration	4541	ND6		orphadata	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	3242	HPD	-	mim2gene	OMIM:140350
HP:0004354	Abnormal circulating carboxylic acid concentration	9652	TTC37	-	mim2gene	OMIM:222470
HP:0004354	Abnormal circulating carboxylic acid concentration	10166	SLC25A15	-	mim2gene	OMIM:238970
HP:0004354	Abnormal circulating carboxylic acid concentration	5860	QDPR	-	mim2gene	OMIM:261630
HP:0004354	Abnormal circulating carboxylic acid concentration	4537	ND3		orphadata	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	443	ASPA	-	mim2gene	OMIM:271900
HP:0004354	Abnormal circulating carboxylic acid concentration	29968	PSAT1		orphadata	ORPHA:284417
HP:0004354	Abnormal circulating carboxylic acid concentration	10157	AASS	-	mim2gene	OMIM:238700
HP:0004354	Abnormal circulating carboxylic acid concentration	1373	CPS1	-	mim2gene	OMIM:237300
HP:0004354	Abnormal circulating carboxylic acid concentration	5625	PRODH	-	mim2gene	OMIM:239500
HP:0004354	Abnormal circulating carboxylic acid concentration	6697	SPR	-	mim2gene	OMIM:612716
HP:0004354	Abnormal circulating carboxylic acid concentration	570	BAAT	-	mim2gene	OMIM:607748
HP:0004354	Abnormal circulating carboxylic acid concentration	7915	ALDH5A1	-	mim2gene	OMIM:271980
HP:0004354	Abnormal circulating carboxylic acid concentration	4577	TRNV		orphadata	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	54968	TMEM70	-	mim2gene	OMIM:614052
HP:0004354	Abnormal circulating carboxylic acid concentration	5205	ATP8B1	-	mim2gene	OMIM:243300
HP:0004354	Abnormal circulating carboxylic acid concentration	6898	TAT	-	mim2gene	OMIM:276600
HP:0004354	Abnormal circulating carboxylic acid concentration	1890	TYMP		orphadata	ORPHA:298
HP:0004354	Abnormal circulating carboxylic acid concentration	1629	DBT	-	mim2gene	OMIM:248600
HP:0004354	Abnormal circulating carboxylic acid concentration	3034	HAL		orphadata	ORPHA:2157
HP:0004354	Abnormal circulating carboxylic acid concentration	4538	ND4		orphadata	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	10165	SLC25A13		orphadata	ORPHA:247585
HP:0004354	Abnormal circulating carboxylic acid concentration	435	ASL		orphadata	ORPHA:23
HP:0004354	Abnormal circulating carboxylic acid concentration	10166	SLC25A15		orphadata	ORPHA:415
HP:0004354	Abnormal circulating carboxylic acid concentration	55788	LMBRD1	-	mim2gene	OMIM:277380
HP:0004354	Abnormal circulating carboxylic acid concentration	153201	SLC36A2	-	mim2gene	OMIM:242600
HP:0004354	Abnormal circulating carboxylic acid concentration	2108	ETFA	-	mim2gene	OMIM:231680
HP:0004354	Abnormal circulating carboxylic acid concentration	4143	MAT1A	-	mim2gene	OMIM:250850
HP:0004354	Abnormal circulating carboxylic acid concentration	4982	TNFRSF11B	-	mim2gene	OMIM:239000
HP:0004354	Abnormal circulating carboxylic acid concentration	2203	FBP1		orphadata	ORPHA:348
HP:0004354	Abnormal circulating carboxylic acid concentration	5105	PCK1	question	mim2gene	OMIM:261680
HP:0004354	Abnormal circulating carboxylic acid concentration	166785	MMAA	-	mim2gene	OMIM:251100
HP:0004354	Abnormal circulating carboxylic acid concentration	5205	ATP8B1	-	mim2gene	OMIM:147480
HP:0004354	Abnormal circulating carboxylic acid concentration	133686	NADK2		orphadata	ORPHA:431361
HP:0004354	Abnormal circulating carboxylic acid concentration	132158	GLYCTK	-	mim2gene	OMIM:220120
HP:0004354	Abnormal circulating carboxylic acid concentration	593	BCKDHA	-	mim2gene	OMIM:248600
HP:0004354	Abnormal circulating carboxylic acid concentration	11222	MRPL3	-	mim2gene	OMIM:614582
HP:0004354	Abnormal circulating carboxylic acid concentration	64087	MCCC2		orphadata	ORPHA:6
HP:0004354	Abnormal circulating carboxylic acid concentration	132	ADK	-	mim2gene	OMIM:614300
HP:0004354	Abnormal circulating carboxylic acid concentration	763	CA5A	-	mim2gene	OMIM:615751
HP:0004354	Abnormal circulating carboxylic acid concentration	8792	TNFRSF11A	-	mim2gene	OMIM:174810
HP:0004354	Abnormal circulating carboxylic acid concentration	79944	L2HGDH	-	mim2gene	OMIM:236792
HP:0004354	Abnormal circulating carboxylic acid concentration	25821	MTO1	-	mim2gene	OMIM:614702
HP:0004354	Abnormal circulating carboxylic acid concentration	5805	PTS	-	mim2gene	OMIM:261640
HP:0004354	Abnormal circulating carboxylic acid concentration	2643	GCH1	-	mim2gene	OMIM:233910
HP:0004354	Abnormal circulating carboxylic acid concentration	57017	COQ9	-	mim2gene	OMIM:614654
HP:0004354	Abnormal circulating carboxylic acid concentration	54931	TRMT10C	-	mim2gene	OMIM:616974
HP:0004354	Abnormal circulating carboxylic acid concentration	5328	PLAU	susceptibility	mim2gene	OMIM:104300
HP:0004354	Abnormal circulating carboxylic acid concentration	2109	ETFB	-	mim2gene	OMIM:231680
HP:0004354	Abnormal circulating carboxylic acid concentration	4846	NOS3	susceptibility	mim2gene	OMIM:104300
HP:0004354	Abnormal circulating carboxylic acid concentration	4353	MPO	susceptibility	mim2gene	OMIM:104300
HP:0004354	Abnormal circulating carboxylic acid concentration	3077	HFE	susceptibility	mim2gene	OMIM:104300
HP:0004354	Abnormal circulating carboxylic acid concentration	8838	CCN6		orphadata	ORPHA:1159
HP:0004354	Abnormal circulating carboxylic acid concentration	875	CBS	-	mim2gene	OMIM:236200
HP:0004354	Abnormal circulating carboxylic acid concentration	4524	MTHFR	-	mim2gene	OMIM:236250
HP:0004354	Abnormal circulating carboxylic acid concentration	2653	GCSH	question	mim2gene	OMIM:605899
HP:0004354	Abnormal circulating carboxylic acid concentration	1491	CTH		orphadata	ORPHA:212
HP:0004354	Abnormal circulating carboxylic acid concentration	1757	SARDH		orphadata	ORPHA:3129
HP:0004354	Abnormal circulating carboxylic acid concentration	2592	GALT	-	mim2gene	OMIM:230400
HP:0004354	Abnormal circulating carboxylic acid concentration	84693	MCEE	-	mim2gene	OMIM:251120
HP:0004354	Abnormal circulating carboxylic acid concentration	10841	FTCD	-	mim2gene	OMIM:229100
HP:0004354	Abnormal circulating carboxylic acid concentration	4536	ND2		orphadata	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	51218	GLRX5		orphadata	ORPHA:401866
HP:0004354	Abnormal circulating carboxylic acid concentration	5625	PRODH		orphadata	ORPHA:419
HP:0004354	Abnormal circulating carboxylic acid concentration	4567	TRNL1		orphadata	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	10165	SLC25A13	-	mim2gene	OMIM:605814
HP:0004354	Abnormal circulating carboxylic acid concentration	5096	PCCB	-	mim2gene	OMIM:606054
HP:0004354	Abnormal circulating carboxylic acid concentration	326625	MMAB	-	mim2gene	OMIM:251110
HP:0004354	Abnormal circulating carboxylic acid concentration	133686	NADK2	question	mim2gene	OMIM:616034
HP:0004354	Abnormal circulating carboxylic acid concentration	8659	ALDH4A1	-	mim2gene	OMIM:239510
HP:0004354	Abnormal circulating carboxylic acid concentration	191	AHCY	-	mim2gene	OMIM:613752
HP:0004354	Abnormal circulating carboxylic acid concentration	3242	HPD		orphadata	ORPHA:2118
HP:0004354	Abnormal circulating carboxylic acid concentration	6888	TALDO1		orphadata	ORPHA:101028
HP:0004354	Abnormal circulating carboxylic acid concentration	498	ATP5F1A	question	mim2gene	OMIM:616045
HP:0004354	Abnormal circulating carboxylic acid concentration	5053	PAH		orphadata	ORPHA:79254
HP:0004354	Abnormal circulating carboxylic acid concentration	4535	ND1		orphadata	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	9056	SLC7A7		orphadata	ORPHA:470
HP:0004354	Abnormal circulating carboxylic acid concentration	51218	GLRX5	-	mim2gene	OMIM:616859
HP:0004354	Abnormal circulating carboxylic acid concentration	4548	MTR	-	mim2gene	OMIM:250940
HP:0004354	Abnormal circulating carboxylic acid concentration	5352	PLOD2	-	mim2gene	OMIM:609220
HP:0004354	Abnormal circulating carboxylic acid concentration	56922	MCCC1		orphadata	ORPHA:6
HP:0004354	Abnormal circulating carboxylic acid concentration	435	ASL	-	mim2gene	OMIM:207900
HP:0004354	Abnormal circulating carboxylic acid concentration	26235	FBXL4	-	mim2gene	OMIM:615471
HP:0004354	Abnormal circulating carboxylic acid concentration	55863	TMEM126B	-	mim2gene	OMIM:618250
HP:0004354	Abnormal circulating carboxylic acid concentration	5053	PAH	-	mim2gene	OMIM:261600
HP:0004354	Abnormal circulating carboxylic acid concentration	50640	PNPLA8	question	mim2gene	OMIM:251950
HP:0004354	Abnormal circulating carboxylic acid concentration	131118	DNAJC19		orphadata	ORPHA:66634
HP:0004354	Abnormal circulating carboxylic acid concentration	3242	HPD	-	mim2gene	OMIM:276710
HP:0004354	Abnormal circulating carboxylic acid concentration	2643	GCH1	-	mim2gene	OMIM:128230
HP:0004354	Abnormal circulating carboxylic acid concentration	8803	SUCLA2	-	mim2gene	OMIM:612073
HP:0004354	Abnormal circulating carboxylic acid concentration	5091	PC	-	mim2gene	OMIM:266150
HP:0004354	Abnormal circulating carboxylic acid concentration	387787	LIPT2	-	mim2gene	OMIM:617668
HP:0004354	Abnormal circulating carboxylic acid concentration	594	BCKDHB	-	mim2gene	OMIM:248600
HP:0004354	Abnormal circulating carboxylic acid concentration	8792	TNFRSF11A	susceptibility	mim2gene	OMIM:602080
HP:0004354	Abnormal circulating carboxylic acid concentration	162417	NAGS	-	mim2gene	OMIM:237310
HP:0004354	Abnormal circulating carboxylic acid concentration	8942	KYNU		orphadata	ORPHA:79155
HP:0004354	Abnormal circulating carboxylic acid concentration	125988	MICOS13	-	mim2gene	OMIM:618329
HP:0004354	Abnormal circulating carboxylic acid concentration	2052	EPHX1	question	mim2gene	OMIM:607748
HP:0004354	Abnormal circulating carboxylic acid concentration	4566	TRNK		orphadata	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	5092	PCBD1	-	mim2gene	OMIM:264070
HP:0004354	Abnormal circulating carboxylic acid concentration	5009	OTC	-	mim2gene	OMIM:311250
HP:0004354	Abnormal circulating carboxylic acid concentration	275	AMT	-	mim2gene	OMIM:605899
HP:0004354	Abnormal circulating carboxylic acid concentration	5723	PSPH		orphadata	ORPHA:79350
HP:0004354	Abnormal circulating carboxylic acid concentration	1373	CPS1		orphadata	ORPHA:147
HP:0004354	Abnormal circulating carboxylic acid concentration	2643	GCH1		orphadata	ORPHA:98808
HP:0004354	Abnormal circulating carboxylic acid concentration	445	ASS1	-	mim2gene	OMIM:215700
HP:0004354	Abnormal circulating carboxylic acid concentration	2110	ETFDH	-	mim2gene	OMIM:231680
HP:0004354	Abnormal circulating carboxylic acid concentration	5160	PDHA1	-	mim2gene	OMIM:312170
HP:0004354	Abnormal circulating carboxylic acid concentration	2184	FAH	-	mim2gene	OMIM:276700
HP:0004354	Abnormal circulating carboxylic acid concentration	197322	ACSF3		orphadata	ORPHA:289504
HP:0004354	Abnormal circulating carboxylic acid concentration	4594	MMUT	-	mim2gene	OMIM:251000
HP:0004354	Abnormal circulating carboxylic acid concentration	4552	MTRR	-	mim2gene	OMIM:236270
HP:0004354	Abnormal circulating carboxylic acid concentration	29968	PSAT1	question	mim2gene	OMIM:610992
HP:0004354	Abnormal circulating carboxylic acid concentration	5244	ABCB4	-	mim2gene	OMIM:614972
HP:0004354	Abnormal circulating carboxylic acid concentration	26227	PHGDH		orphadata	ORPHA:79351
HP:0004354	Abnormal circulating carboxylic acid concentration	131669	UROC1		orphadata	ORPHA:210128
HP:0004354	Abnormal circulating carboxylic acid concentration	9414	TJP2	-	mim2gene	OMIM:607748
HP:0004354	Abnormal circulating carboxylic acid concentration	351	APP	-	mim2gene	OMIM:104300
HP:0004354	Abnormal circulating carboxylic acid concentration	5095	PCCA	-	mim2gene	OMIM:606054
HP:0004354	Abnormal circulating carboxylic acid concentration	55163	PNPO		orphadata	ORPHA:79096
HP:0004354	Abnormal circulating carboxylic acid concentration	55532	SLC30A10		orphadata	ORPHA:309854
HP:0004354	Abnormal circulating carboxylic acid concentration	54716	SLC6A20	-	mim2gene	OMIM:242600
HP:0004354	Abnormal circulating carboxylic acid concentration	4285	MIPEP	-	mim2gene	OMIM:617228
HP:0004354	Abnormal circulating carboxylic acid concentration	4508	ATP6		orphadata	ORPHA:255210
HP:0004354	Abnormal circulating carboxylic acid concentration	3054	HCFC1	-	mim2gene	OMIM:309541
HP:0004354	Abnormal circulating carboxylic acid concentration	4942	OAT		orphadata	ORPHA:414
HP:0004354	Abnormal circulating carboxylic acid concentration	6531	SLC6A3		orphadata	ORPHA:238455
HP:0004354	Abnormal circulating carboxylic acid concentration	25974	MMACHC	-	mim2gene	OMIM:277400
HP:0004354	Abnormal circulating carboxylic acid concentration	2	A2M	susceptibility	mim2gene	OMIM:104300
HP:0004354	Abnormal circulating carboxylic acid concentration	51079	NDUFA13	question	mim2gene	OMIM:618249
HP:0004354	Abnormal circulating carboxylic acid concentration	2731	GLDC	-	mim2gene	OMIM:605899
HP:0004354	Abnormal circulating carboxylic acid concentration	29958	DMGDH	-	mim2gene	OMIM:605850
HP:0004354	Abnormal circulating carboxylic acid concentration	10165	SLC25A13		orphadata	ORPHA:247598
HP:0004354	Abnormal circulating carboxylic acid concentration	2639	GCDH	-	mim2gene	OMIM:231670
HP:0004354	Abnormal circulating carboxylic acid concentration	50484	RRM2B		orphadata	ORPHA:298
HP:0004354	Abnormal circulating carboxylic acid concentration	1738	DLD		orphadata	ORPHA:2394
HP:0004354	Abnormal circulating carboxylic acid concentration	5052	PRDX1	-	mim2gene	OMIM:277400
HP:0004354	Abnormal circulating carboxylic acid concentration	5428	POLG		orphadata	ORPHA:298
HP:0004356	Abnormality of lysosomal metabolism	54982	CLN6	-	mim2gene	OMIM:204300
HP:0004356	Abnormality of lysosomal metabolism	427	ASAH1	-	mim2gene	OMIM:228000
HP:0004356	Abnormality of lysosomal metabolism	4952	OCRL	-	mim2gene	OMIM:309000
HP:0004356	Abnormality of lysosomal metabolism	4982	TNFRSF11B	-	mim2gene	OMIM:239000
HP:0004356	Abnormality of lysosomal metabolism	1186	CLCN7	-	mim2gene	OMIM:166600
HP:0004356	Abnormality of lysosomal metabolism	760	CA2	-	mim2gene	OMIM:259730
HP:0004356	Abnormality of lysosomal metabolism	79158	GNPTAB	-	mim2gene	OMIM:252500
HP:0004356	Abnormality of lysosomal metabolism	80331	DNAJC5	-	mim2gene	OMIM:162350
HP:0004356	Abnormality of lysosomal metabolism	79158	GNPTAB	-	mim2gene	OMIM:252600
HP:0004357	Abnormal circulating leucine concentration	56922	MCCC1		orphadata	ORPHA:6
HP:0004357	Abnormal circulating leucine concentration	64087	MCCC2		orphadata	ORPHA:6
HP:0004358	Abnormality of superoxide metabolism	133686	NADK2		orphadata	ORPHA:431361
HP:0004358	Abnormality of superoxide metabolism	653361	NCF1	-	mim2gene	OMIM:233700
HP:0004358	Abnormality of superoxide metabolism	1535	CYBA	-	mim2gene	OMIM:233690
HP:0004358	Abnormality of superoxide metabolism	1536	CYBB	-	mim2gene	OMIM:306400
HP:0004358	Abnormality of superoxide metabolism	4688	NCF2	-	mim2gene	OMIM:233710
HP:0004359	Abnormal circulating fatty-acid concentration	1376	CPT2	-	mim2gene	OMIM:608836
HP:0004359	Abnormal circulating fatty-acid concentration	5189	PEX1	-	mim2gene	OMIM:214100
HP:0004359	Abnormal circulating fatty-acid concentration	3758	KCNJ1	-	mim2gene	OMIM:241200
HP:0004359	Abnormal circulating fatty-acid concentration	37	ACADVL		orphadata	ORPHA:26793
HP:0004359	Abnormal circulating fatty-acid concentration	3155	HMGCL	-	mim2gene	OMIM:246450
HP:0004359	Abnormal circulating fatty-acid concentration	5191	PEX7	-	mim2gene	OMIM:266500
HP:0004359	Abnormal circulating fatty-acid concentration	6927	HNF1A		orphadata	ORPHA:324575
HP:0004359	Abnormal circulating fatty-acid concentration	27034	ACAD8	-	mim2gene	OMIM:611283
HP:0004359	Abnormal circulating fatty-acid concentration	5824	PEX19	-	mim2gene	OMIM:614886
HP:0004359	Abnormal circulating fatty-acid concentration	5830	PEX5		orphadata	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	3172	HNF4A		orphadata	ORPHA:263455
HP:0004359	Abnormal circulating fatty-acid concentration	5190	PEX6		orphadata	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	6916	TBXAS1	question	mim2gene	OMIM:614158
HP:0004359	Abnormal circulating fatty-acid concentration	7351	UCP2		orphadata	ORPHA:276556
HP:0004359	Abnormal circulating fatty-acid concentration	6557	SLC12A1	-	mim2gene	OMIM:601678
HP:0004359	Abnormal circulating fatty-acid concentration	5195	PEX14		orphadata	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	3033	HADH		orphadata	ORPHA:71212
HP:0004359	Abnormal circulating fatty-acid concentration	34	ACADM	-	mim2gene	OMIM:201450
HP:0004359	Abnormal circulating fatty-acid concentration	128989	TANGO2	-	mim2gene	OMIM:616878
HP:0004359	Abnormal circulating fatty-acid concentration	5830	PEX5	-	mim2gene	OMIM:214110
HP:0004359	Abnormal circulating fatty-acid concentration	215	ABCD1	-	mim2gene	OMIM:300100
HP:0004359	Abnormal circulating fatty-acid concentration	5189	PEX1		orphadata	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	55687	TRMU		orphadata	ORPHA:254864
HP:0004359	Abnormal circulating fatty-acid concentration	5192	PEX10		orphadata	ORPHA:247815
HP:0004359	Abnormal circulating fatty-acid concentration	5830	PEX5	-	mim2gene	OMIM:202370
HP:0004359	Abnormal circulating fatty-acid concentration	9409	PEX16		orphadata	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	5191	PEX7	-	mim2gene	OMIM:614879
HP:0004359	Abnormal circulating fatty-acid concentration	27034	ACAD8		orphadata	ORPHA:79159
HP:0004359	Abnormal circulating fatty-acid concentration	5828	PEX2		orphadata	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	788	SLC25A20		orphadata	ORPHA:159
HP:0004359	Abnormal circulating fatty-acid concentration	133686	NADK2		orphadata	ORPHA:431361
HP:0004359	Abnormal circulating fatty-acid concentration	5192	PEX10		orphadata	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	6584	SLC22A5	-	mim2gene	OMIM:212140
HP:0004359	Abnormal circulating fatty-acid concentration	28976	ACAD9		orphadata	ORPHA:99901
HP:0004359	Abnormal circulating fatty-acid concentration	55065	SLC52A1	-	mim2gene	OMIM:615026
HP:0004359	Abnormal circulating fatty-acid concentration	5264	PHYH	-	mim2gene	OMIM:266500
HP:0004359	Abnormal circulating fatty-acid concentration	55670	PEX26		orphadata	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	5824	PEX19		orphadata	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	3767	KCNJ11		orphadata	ORPHA:276580
HP:0004359	Abnormal circulating fatty-acid concentration	37	ACADVL	-	mim2gene	OMIM:201475
HP:0004359	Abnormal circulating fatty-acid concentration	4056	LTC4S	-	mim2gene	OMIM:614037
HP:0004359	Abnormal circulating fatty-acid concentration	5194	PEX13		orphadata	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	5321	PLA2G4A	-	mim2gene	OMIM:618372
HP:0004359	Abnormal circulating fatty-acid concentration	33	ACADL		orphadata	ORPHA:99900
HP:0004359	Abnormal circulating fatty-acid concentration	5193	PEX12		orphadata	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	8799	PEX11B		orphadata	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	34	ACADM		orphadata	ORPHA:42
HP:0004359	Abnormal circulating fatty-acid concentration	4556	TRNE		orphadata	ORPHA:254864
HP:0004359	Abnormal circulating fatty-acid concentration	8504	PEX3		orphadata	ORPHA:772
HP:0004359	Abnormal circulating fatty-acid concentration	5828	PEX2	-	mim2gene	OMIM:614867
HP:0004359	Abnormal circulating fatty-acid concentration	6833	ABCC8		orphadata	ORPHA:276575
HP:0004359	Abnormal circulating fatty-acid concentration	1497	CTNS	-	mim2gene	OMIM:219800
HP:0004359	Abnormal circulating fatty-acid concentration	1738	DLD		orphadata	ORPHA:2394
HP:0004359	Abnormal circulating fatty-acid concentration	133686	NADK2	question	mim2gene	OMIM:616034
HP:0004360	Abnormality of acid-base homeostasis	1583	CYP11A1		orphadata	ORPHA:289548
HP:0004360	Abnormality of acid-base homeostasis	9131	AIFM1	-	mim2gene	OMIM:300816
HP:0004360	Abnormality of acid-base homeostasis	4540	ND5		orphadata	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	2998	GYS2	-	mim2gene	OMIM:240600
HP:0004360	Abnormality of acid-base homeostasis	81570	CLPB		orphadata	ORPHA:445038
HP:0004360	Abnormality of acid-base homeostasis	6566	SLC16A1	-	mim2gene	OMIM:616095
HP:0004360	Abnormality of acid-base homeostasis	84340	GFM2	-	mim2gene	OMIM:618397
HP:0004360	Abnormality of acid-base homeostasis	1355	COX15		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	4535	ND1	-	mim2gene	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	6809	STX3		orphadata	ORPHA:2290
HP:0004360	Abnormality of acid-base homeostasis	57128	LYRM4	question	mim2gene	OMIM:615595
HP:0004360	Abnormality of acid-base homeostasis	4574	TRNS1	-	mim2gene	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	4567	TRNL1		orphadata	ORPHA:663
HP:0004360	Abnormality of acid-base homeostasis	27235	COQ2		orphadata	ORPHA:255249
HP:0004360	Abnormality of acid-base homeostasis	123263	MTFMT	-	mim2gene	OMIM:614947
HP:0004360	Abnormality of acid-base homeostasis	64087	MCCC2	-	mim2gene	OMIM:210210
HP:0004360	Abnormality of acid-base homeostasis	4715	NDUFB9	question	mim2gene	OMIM:618245
HP:0004360	Abnormality of acid-base homeostasis	1890	TYMP		orphadata	ORPHA:298
HP:0004360	Abnormality of acid-base homeostasis	4729	NDUFV2	-	mim2gene	OMIM:618229
HP:0004360	Abnormality of acid-base homeostasis	2645	GCK	-	mim2gene	OMIM:606176
HP:0004360	Abnormality of acid-base homeostasis	3630	INS	-	mim2gene	OMIM:606176
HP:0004360	Abnormality of acid-base homeostasis	4726	NDUFS6	-	mim2gene	OMIM:618232
HP:0004360	Abnormality of acid-base homeostasis	29078	NDUFAF4	-	mim2gene	OMIM:618237
HP:0004360	Abnormality of acid-base homeostasis	4513	COX2	-	mim2gene	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	6834	SURF1		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	80224	NUBPL		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	27235	COQ2	-	mim2gene	OMIM:607426
HP:0004360	Abnormality of acid-base homeostasis	4716	NDUFB10		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	4572	TRNQ	-	mim2gene	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	291	SLC25A4	-	mim2gene	OMIM:615418
HP:0004360	Abnormality of acid-base homeostasis	80704	SLC19A3		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	1188	CLCNKB	-	mim2gene	OMIM:613090
HP:0004360	Abnormality of acid-base homeostasis	3155	HMGCL		orphadata	ORPHA:20
HP:0004360	Abnormality of acid-base homeostasis	593	BCKDHA	-	mim2gene	OMIM:248600
HP:0004360	Abnormality of acid-base homeostasis	760	CA2	-	mim2gene	OMIM:259730
HP:0004360	Abnormality of acid-base homeostasis	6834	SURF1	-	mim2gene	OMIM:256000
HP:0004360	Abnormality of acid-base homeostasis	7381	UQCRB	-	mim2gene	OMIM:615158
HP:0004360	Abnormality of acid-base homeostasis	3762	KCNJ5	-	mim2gene	OMIM:613677
HP:0004360	Abnormality of acid-base homeostasis	79944	L2HGDH	-	mim2gene	OMIM:236792
HP:0004360	Abnormality of acid-base homeostasis	25821	MTO1	-	mim2gene	OMIM:614702
HP:0004360	Abnormality of acid-base homeostasis	4141	MARS1	-	mim2gene	OMIM:615486
HP:0004360	Abnormality of acid-base homeostasis	4571	TRNP	-	mim2gene	OMIM:545000
HP:0004360	Abnormality of acid-base homeostasis	4576	TRNT	-	mim2gene	OMIM:551000
HP:0004360	Abnormality of acid-base homeostasis	4952	OCRL	-	mim2gene	OMIM:309000
HP:0004360	Abnormality of acid-base homeostasis	128240	NAXE	-	mim2gene	OMIM:617186
HP:0004360	Abnormality of acid-base homeostasis	63894	VIPAS39	-	mim2gene	OMIM:613404
HP:0004360	Abnormality of acid-base homeostasis	27429	HTRA2	-	mim2gene	OMIM:617248
HP:0004360	Abnormality of acid-base homeostasis	617	BCS1L	-	mim2gene	OMIM:256000
HP:0004360	Abnormality of acid-base homeostasis	54931	TRMT10C	-	mim2gene	OMIM:616974
HP:0004360	Abnormality of acid-base homeostasis	3291	HSD11B2		orphadata	ORPHA:320
HP:0004360	Abnormality of acid-base homeostasis	10059	DNM1L	-	mim2gene	OMIM:614388
HP:0004360	Abnormality of acid-base homeostasis	79133	NDUFAF5		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	1340	COX6B1	-	mim2gene	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	4729	NDUFV2		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	4514	COX3	-	mim2gene	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	4536	ND2		orphadata	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	6389	SDHA	-	mim2gene	OMIM:256000
HP:0004360	Abnormality of acid-base homeostasis	6338	SCNN1B	-	mim2gene	OMIM:177200
HP:0004360	Abnormality of acid-base homeostasis	23395	LARS2	question	mim2gene	OMIM:617021
HP:0004360	Abnormality of acid-base homeostasis	1962	EHHADH	question	mim2gene	OMIM:615605
HP:0004360	Abnormality of acid-base homeostasis	5495	PPM1B		orphadata	ORPHA:163693
HP:0004360	Abnormality of acid-base homeostasis	11212	PLPBP	-	mim2gene	OMIM:617290
HP:0004360	Abnormality of acid-base homeostasis	2639	GCDH		orphadata	ORPHA:25
HP:0004360	Abnormality of acid-base homeostasis	55687	TRMU	-	mim2gene	OMIM:613070
HP:0004360	Abnormality of acid-base homeostasis	3651	PDX1	-	mim2gene	OMIM:606176
HP:0004360	Abnormality of acid-base homeostasis	6834	SURF1		orphadata	ORPHA:70474
HP:0004360	Abnormality of acid-base homeostasis	1351	COX8A	question	mim2gene	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	326625	MMAB	-	mim2gene	OMIM:251110
HP:0004360	Abnormality of acid-base homeostasis	79823	CAMKMT		orphadata	ORPHA:163693
HP:0004360	Abnormality of acid-base homeostasis	126328	NDUFA11		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	8671	SLC4A4	-	mim2gene	OMIM:604278
HP:0004360	Abnormality of acid-base homeostasis	23417	MLYCD	-	mim2gene	OMIM:248360
HP:0004360	Abnormality of acid-base homeostasis	4329	ALDH6A1	-	mim2gene	OMIM:614105
HP:0004360	Abnormality of acid-base homeostasis	6392	SDHD	-	mim2gene	OMIM:252011
HP:0004360	Abnormality of acid-base homeostasis	4558	TRNF		orphadata	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	50640	PNPLA8	question	mim2gene	OMIM:251950
HP:0004360	Abnormality of acid-base homeostasis	4704	NDUFA9	-	mim2gene	OMIM:618247
HP:0004360	Abnormality of acid-base homeostasis	27247	NFU1	-	mim2gene	OMIM:605711
HP:0004360	Abnormality of acid-base homeostasis	4720	NDUFS2		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	84987	COX14	question	mim2gene	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	91647	ATPAF2	question	mim2gene	OMIM:604273
HP:0004360	Abnormality of acid-base homeostasis	374291	NDUFS7	-	mim2gene	OMIM:618224
HP:0004360	Abnormality of acid-base homeostasis	84947	SERAC1	-	mim2gene	OMIM:614739
HP:0004360	Abnormality of acid-base homeostasis	189	AGXT		orphadata	ORPHA:93598
HP:0004360	Abnormality of acid-base homeostasis	387787	LIPT2	-	mim2gene	OMIM:617668
HP:0004360	Abnormality of acid-base homeostasis	3141	HLCS	-	mim2gene	OMIM:253270
HP:0004360	Abnormality of acid-base homeostasis	51660	MPC1	-	mim2gene	OMIM:614741
HP:0004360	Abnormality of acid-base homeostasis	38	ACAT1	-	mim2gene	OMIM:203750
HP:0004360	Abnormality of acid-base homeostasis	594	BCKDHB	-	mim2gene	OMIM:248600
HP:0004360	Abnormality of acid-base homeostasis	6340	SCNN1G	-	mim2gene	OMIM:264350
HP:0004360	Abnormality of acid-base homeostasis	57505	AARS2	-	mim2gene	OMIM:614096
HP:0004360	Abnormality of acid-base homeostasis	60528	ELAC2	-	mim2gene	OMIM:615440
HP:0004360	Abnormality of acid-base homeostasis	4720	NDUFS2		orphadata	ORPHA:70474
HP:0004360	Abnormality of acid-base homeostasis	4519	CYTB	-	mim2gene	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	4719	NDUFS1		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	100131801	PET100	-	mim2gene	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	5009	OTC	-	mim2gene	OMIM:311250
HP:0004360	Abnormality of acid-base homeostasis	6337	SCNN1A	question	mim2gene	OMIM:618126
HP:0004360	Abnormality of acid-base homeostasis	445	ASS1	-	mim2gene	OMIM:215700
HP:0004360	Abnormality of acid-base homeostasis	6261	RYR1	-	mim2gene	OMIM:145600
HP:0004360	Abnormality of acid-base homeostasis	116228	COX20	-	mim2gene	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	8869	ST3GAL5		orphadata	ORPHA:370938
HP:0004360	Abnormality of acid-base homeostasis	137682	NDUFAF6	-	mim2gene	OMIM:618239
HP:0004360	Abnormality of acid-base homeostasis	57570	TRMT5	-	mim2gene	OMIM:616539
HP:0004360	Abnormality of acid-base homeostasis	4694	NDUFA1	-	mim2gene	OMIM:301020
HP:0004360	Abnormality of acid-base homeostasis	5917	RARS1		orphadata	ORPHA:438114
HP:0004360	Abnormality of acid-base homeostasis	5261	PHKG2		orphadata	ORPHA:264580
HP:0004360	Abnormality of acid-base homeostasis	9131	AIFM1		orphadata	ORPHA:238329
HP:0004360	Abnormality of acid-base homeostasis	3028	HSD17B10	-	mim2gene	OMIM:300438
HP:0004360	Abnormality of acid-base homeostasis	91942	NDUFAF2		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	6834	SURF1	-	mim2gene	OMIM:616684
HP:0004360	Abnormality of acid-base homeostasis	4719	NDUFS1	-	mim2gene	OMIM:618226
HP:0004360	Abnormality of acid-base homeostasis	10102	TSFM	-	mim2gene	OMIM:610505
HP:0004360	Abnormality of acid-base homeostasis	197322	ACSF3	-	mim2gene	OMIM:614265
HP:0004360	Abnormality of acid-base homeostasis	51081	MRPS7	question	mim2gene	OMIM:617872
HP:0004360	Abnormality of acid-base homeostasis	549	AUH	-	mim2gene	OMIM:250950
HP:0004360	Abnormality of acid-base homeostasis	4512	COX1	-	mim2gene	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	4285	MIPEP	-	mim2gene	OMIM:617228
HP:0004360	Abnormality of acid-base homeostasis	23479	ISCU	-	mim2gene	OMIM:255125
HP:0004360	Abnormality of acid-base homeostasis	4574	TRNS1		orphadata	ORPHA:663
HP:0004360	Abnormality of acid-base homeostasis	1811	SLC26A3	-	mim2gene	OMIM:214700
HP:0004360	Abnormality of acid-base homeostasis	4540	ND5		orphadata	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	5250	SLC25A3		orphadata	ORPHA:91130
HP:0004360	Abnormality of acid-base homeostasis	3054	HCFC1	-	mim2gene	OMIM:309541
HP:0004360	Abnormality of acid-base homeostasis	1892	ECHS1	-	mim2gene	OMIM:616277
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG		orphadata	ORPHA:70595
HP:0004360	Abnormality of acid-base homeostasis	35	ACADS	-	mim2gene	OMIM:201470
HP:0004360	Abnormality of acid-base homeostasis	776	CACNA1D		orphadata	ORPHA:369929
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG		orphadata	ORPHA:298
HP:0004360	Abnormality of acid-base homeostasis	4568	TRNL2		orphadata	ORPHA:663
HP:0004360	Abnormality of acid-base homeostasis	8050	PDHX	-	mim2gene	OMIM:245349
HP:0004360	Abnormality of acid-base homeostasis	9056	SLC7A7	-	mim2gene	OMIM:222700
HP:0004360	Abnormality of acid-base homeostasis	3030	HADHA	-	mim2gene	OMIM:609015
HP:0004360	Abnormality of acid-base homeostasis	91574	C12ORF65	-	mim2gene	OMIM:613559
HP:0004360	Abnormality of acid-base homeostasis	513	ATP5F1D	-	mim2gene	OMIM:618120
HP:0004360	Abnormality of acid-base homeostasis	56652	TWNK	-	mim2gene	OMIM:609286
HP:0004360	Abnormality of acid-base homeostasis	27089	UQCRQ	-	mim2gene	OMIM:615159
HP:0004360	Abnormality of acid-base homeostasis	3291	HSD11B2	-	mim2gene	OMIM:218030
HP:0004360	Abnormality of acid-base homeostasis	84334	COA8	-	mim2gene	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	4564	TRNH		orphadata	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	617	BCS1L		orphadata	ORPHA:53693
HP:0004360	Abnormality of acid-base homeostasis	26276	VPS33B	-	mim2gene	OMIM:208085
HP:0004360	Abnormality of acid-base homeostasis	4705	NDUFA10	-	mim2gene	OMIM:618243
HP:0004360	Abnormality of acid-base homeostasis	9049	AIP	-	mim2gene	OMIM:219090
HP:0004360	Abnormality of acid-base homeostasis	55572	FOXRED1	-	mim2gene	OMIM:618241
HP:0004360	Abnormality of acid-base homeostasis	25915	NDUFAF3		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	617	BCS1L	-	mim2gene	OMIM:124000
HP:0004360	Abnormality of acid-base homeostasis	4723	NDUFV1	-	mim2gene	OMIM:618225
HP:0004360	Abnormality of acid-base homeostasis	4566	TRNK	-	mim2gene	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	4567	TRNL1		orphadata	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4538	ND4		orphadata	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	55768	NGLY1	-	mim2gene	OMIM:615273
HP:0004360	Abnormality of acid-base homeostasis	10166	SLC25A15		orphadata	ORPHA:415
HP:0004360	Abnormality of acid-base homeostasis	6389	SDHA		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG		orphadata	ORPHA:254892
HP:0004360	Abnormality of acid-base homeostasis	4536	ND2		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	1374	CPT1A		orphadata	ORPHA:156
HP:0004360	Abnormality of acid-base homeostasis	55005	RMND1	-	mim2gene	OMIM:614922
HP:0004360	Abnormality of acid-base homeostasis	4695	NDUFA2	question	mim2gene	OMIM:618235
HP:0004360	Abnormality of acid-base homeostasis	4719	NDUFS1		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	6927	HNF1A	susceptibility	mim2gene	OMIM:222100
HP:0004360	Abnormality of acid-base homeostasis	132158	GLYCTK	-	mim2gene	OMIM:220120
HP:0004360	Abnormality of acid-base homeostasis	11274	USP18	-	mim2gene	OMIM:617397
HP:0004360	Abnormality of acid-base homeostasis	55750	AGK		orphadata	ORPHA:1369
HP:0004360	Abnormality of acid-base homeostasis	11222	MRPL3	-	mim2gene	OMIM:614582
HP:0004360	Abnormality of acid-base homeostasis	51204	TACO1		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	56945	MRPS22	-	mim2gene	OMIM:611719
HP:0004360	Abnormality of acid-base homeostasis	4535	ND1		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	4724	NDUFS4		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	28976	ACAD9		orphadata	ORPHA:99901
HP:0004360	Abnormality of acid-base homeostasis	55210	ATAD3A		orphadata	ORPHA:496790
HP:0004360	Abnormality of acid-base homeostasis	7084	TK2	question	mim2gene	OMIM:617069
HP:0004360	Abnormality of acid-base homeostasis	11093	ADAMTS13	-	mim2gene	OMIM:274150
HP:0004360	Abnormality of acid-base homeostasis	6901	TAZ	-	mim2gene	OMIM:302060
HP:0004360	Abnormality of acid-base homeostasis	57017	COQ9	-	mim2gene	OMIM:614654
HP:0004360	Abnormality of acid-base homeostasis	22868	FASTKD2	question	mim2gene	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	2109	ETFB	-	mim2gene	OMIM:231680
HP:0004360	Abnormality of acid-base homeostasis	4700	NDUFA6		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	79133	NDUFAF5		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	4574	TRNS1		orphadata	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4714	NDUFB8		orphadata	ORPHA:70474
HP:0004360	Abnormality of acid-base homeostasis	79587	CARS2		orphadata	ORPHA:477774
HP:0004360	Abnormality of acid-base homeostasis	4700	NDUFA6	-	mim2gene	OMIM:618253
HP:0004360	Abnormality of acid-base homeostasis	790	CAD	-	mim2gene	OMIM:616457
HP:0004360	Abnormality of acid-base homeostasis	2710	GK	-	mim2gene	OMIM:307030
HP:0004360	Abnormality of acid-base homeostasis	229	ALDOB	-	mim2gene	OMIM:229600
HP:0004360	Abnormality of acid-base homeostasis	3712	IVD		orphadata	ORPHA:33
HP:0004360	Abnormality of acid-base homeostasis	644096	SDHAF1	-	mim2gene	OMIM:252011
HP:0004360	Abnormality of acid-base homeostasis	54539	NDUFB11	question	mim2gene	OMIM:301021
HP:0004360	Abnormality of acid-base homeostasis	23590	PDSS1	-	mim2gene	OMIM:614651
HP:0004360	Abnormality of acid-base homeostasis	6340	SCNN1G	-	mim2gene	OMIM:618114
HP:0004360	Abnormality of acid-base homeostasis	1355	COX15	-	mim2gene	OMIM:256000
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG	-	mim2gene	OMIM:607459
HP:0004360	Abnormality of acid-base homeostasis	3242	HPD		orphadata	ORPHA:2118
HP:0004360	Abnormality of acid-base homeostasis	4567	TRNL1	-	mim2gene	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	3569	IL6	susceptibility	mim2gene	OMIM:222100
HP:0004360	Abnormality of acid-base homeostasis	3758	KCNJ1	-	mim2gene	OMIM:241200
HP:0004360	Abnormality of acid-base homeostasis	4512	COX1		orphadata	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	3643	INSR	-	mim2gene	OMIM:262190
HP:0004360	Abnormality of acid-base homeostasis	7084	TK2	-	mim2gene	OMIM:609560
HP:0004360	Abnormality of acid-base homeostasis	4726	NDUFS6		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	435	ASL	-	mim2gene	OMIM:207900
HP:0004360	Abnormality of acid-base homeostasis	4511	TRNC	-	mim2gene	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	55967	NDUFA12		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	50617	ATP6V0A4	-	mim2gene	OMIM:602722
HP:0004360	Abnormality of acid-base homeostasis	51079	NDUFA13		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	6523	SLC5A1	-	mim2gene	OMIM:606824
HP:0004360	Abnormality of acid-base homeostasis	81689	ISCA1	-	mim2gene	OMIM:617613
HP:0004360	Abnormality of acid-base homeostasis	4722	NDUFS3	-	mim2gene	OMIM:618230
HP:0004360	Abnormality of acid-base homeostasis	4715	NDUFB9		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	1187	CLCNKA	-	mim2gene	OMIM:613090
HP:0004360	Abnormality of acid-base homeostasis	4709	NDUFB3	-	mim2gene	OMIM:618246
HP:0004360	Abnormality of acid-base homeostasis	4578	TRNW		orphadata	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	4514	COX3		orphadata	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	6557	SLC12A1	-	mim2gene	OMIM:601678
HP:0004360	Abnormality of acid-base homeostasis	11019	LIAS	-	mim2gene	OMIM:614462
HP:0004360	Abnormality of acid-base homeostasis	2671	GFER		orphadata	ORPHA:330054
HP:0004360	Abnormality of acid-base homeostasis	57107	PDSS2	-	mim2gene	OMIM:614652
HP:0004360	Abnormality of acid-base homeostasis	8942	KYNU		orphadata	ORPHA:79155
HP:0004360	Abnormality of acid-base homeostasis	5162	PDHB	-	mim2gene	OMIM:614111
HP:0004360	Abnormality of acid-base homeostasis	51300	TIMMDC1		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	27130	INVS	-	mim2gene	OMIM:602088
HP:0004360	Abnormality of acid-base homeostasis	3675	ITGA3	-	mim2gene	OMIM:614748
HP:0004360	Abnormality of acid-base homeostasis	617	BCS1L	-	mim2gene	OMIM:603358
HP:0004360	Abnormality of acid-base homeostasis	56652	TWNK		orphadata	ORPHA:70595
HP:0004360	Abnormality of acid-base homeostasis	4513	COX2		orphadata	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	6341	SCO1	-	mim2gene	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	6521	SLC4A1	-	mim2gene	OMIM:179800
HP:0004360	Abnormality of acid-base homeostasis	123263	MTFMT		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	26275	HIBCH		orphadata	ORPHA:88639
HP:0004360	Abnormality of acid-base homeostasis	27010	TPK1	-	mim2gene	OMIM:614458
HP:0004360	Abnormality of acid-base homeostasis	55572	FOXRED1		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	5160	PDHA1	-	mim2gene	OMIM:312170
HP:0004360	Abnormality of acid-base homeostasis	5261	PHKG2	-	mim2gene	OMIM:613027
HP:0004360	Abnormality of acid-base homeostasis	5078	PAX4	susceptibility	mim2gene	OMIM:612227
HP:0004360	Abnormality of acid-base homeostasis	56997	COQ8A	-	mim2gene	OMIM:612016
HP:0004360	Abnormality of acid-base homeostasis	50484	RRM2B		orphadata	ORPHA:254892
HP:0004360	Abnormality of acid-base homeostasis	197322	ACSF3		orphadata	ORPHA:289504
HP:0004360	Abnormality of acid-base homeostasis	284439	SLC25A42	-	mim2gene	OMIM:618416
HP:0004360	Abnormality of acid-base homeostasis	84705	GTPBP3	-	mim2gene	OMIM:616198
HP:0004360	Abnormality of acid-base homeostasis	1352	COX10	-	mim2gene	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	55863	TMEM126B		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	4540	ND5	-	mim2gene	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	80222	TARS2	question	mim2gene	OMIM:615918
HP:0004360	Abnormality of acid-base homeostasis	1352	COX10	-	mim2gene	OMIM:256000
HP:0004360	Abnormality of acid-base homeostasis	8452	CUL3	-	mim2gene	OMIM:614496
HP:0004360	Abnormality of acid-base homeostasis	51103	NDUFAF1		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	10352	WARS2	-	mim2gene	OMIM:617710
HP:0004360	Abnormality of acid-base homeostasis	55572	FOXRED1		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	4566	TRNK	-	mim2gene	OMIM:545000
HP:0004360	Abnormality of acid-base homeostasis	4508	ATP6		orphadata	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	1188	CLCNKB		orphadata	ORPHA:358
HP:0004360	Abnormality of acid-base homeostasis	91942	NDUFAF2		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	119559	SFXN4	-	mim2gene	OMIM:615578
HP:0004360	Abnormality of acid-base homeostasis	10165	SLC25A13		orphadata	ORPHA:247598
HP:0004360	Abnormality of acid-base homeostasis	50674	NEUROG3	-	mim2gene	OMIM:610370
HP:0004360	Abnormality of acid-base homeostasis	291	SLC25A4		orphadata	ORPHA:1369
HP:0004360	Abnormality of acid-base homeostasis	23474	ETHE1		orphadata	ORPHA:51188
HP:0004360	Abnormality of acid-base homeostasis	4558	TRNF	-	mim2gene	OMIM:545000
HP:0004360	Abnormality of acid-base homeostasis	400916	CHCHD10		orphadata	ORPHA:457050
HP:0004360	Abnormality of acid-base homeostasis	1738	DLD		orphadata	ORPHA:2394
HP:0004360	Abnormality of acid-base homeostasis	5052	PRDX1	-	mim2gene	OMIM:277400
HP:0004360	Abnormality of acid-base homeostasis	3762	KCNJ5		orphadata	ORPHA:251274
HP:0004360	Abnormality of acid-base homeostasis	4694	NDUFA1		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	51067	YARS2		orphadata	ORPHA:2598
HP:0004360	Abnormality of acid-base homeostasis	57724	EPG5		orphadata	ORPHA:1493
HP:0004360	Abnormality of acid-base homeostasis	4358	MPV17	-	mim2gene	OMIM:256810
HP:0004360	Abnormality of acid-base homeostasis	4709	NDUFB3		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	4697	NDUFA4		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG	-	mim2gene	OMIM:203700
HP:0004360	Abnormality of acid-base homeostasis	4578	TRNW		orphadata	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	84334	COA8		orphadata	ORPHA:436271
HP:0004360	Abnormality of acid-base homeostasis	1892	ECHS1		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	4541	ND6		orphadata	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	3242	HPD	-	mim2gene	OMIM:140350
HP:0004360	Abnormality of acid-base homeostasis	3284	HSD3B2		orphadata	ORPHA:90791
HP:0004360	Abnormality of acid-base homeostasis	28976	ACAD9	-	mim2gene	OMIM:611126
HP:0004360	Abnormality of acid-base homeostasis	80324	PUS1	-	mim2gene	OMIM:600462
HP:0004360	Abnormality of acid-base homeostasis	1373	CPS1	-	mim2gene	OMIM:237300
HP:0004360	Abnormality of acid-base homeostasis	4577	TRNV		orphadata	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	54968	TMEM70	-	mim2gene	OMIM:614052
HP:0004360	Abnormality of acid-base homeostasis	4538	ND4		orphadata	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	1629	DBT	-	mim2gene	OMIM:248600
HP:0004360	Abnormality of acid-base homeostasis	25915	NDUFAF3		orphadata	ORPHA:70474
HP:0004360	Abnormality of acid-base homeostasis	56922	MCCC1	-	mim2gene	OMIM:210200
HP:0004360	Abnormality of acid-base homeostasis	34	ACADM	-	mim2gene	OMIM:201450
HP:0004360	Abnormality of acid-base homeostasis	4722	NDUFS3		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	4576	TRNT		orphadata	ORPHA:254857
HP:0004360	Abnormality of acid-base homeostasis	55788	LMBRD1	-	mim2gene	OMIM:277380
HP:0004360	Abnormality of acid-base homeostasis	3710	ITPR3	susceptibility	mim2gene	OMIM:222100
HP:0004360	Abnormality of acid-base homeostasis	2108	ETFA	-	mim2gene	OMIM:231680
HP:0004360	Abnormality of acid-base homeostasis	1890	TYMP	-	mim2gene	OMIM:603041
HP:0004360	Abnormality of acid-base homeostasis	55687	TRMU		orphadata	ORPHA:254864
HP:0004360	Abnormality of acid-base homeostasis	3106	HLA-B		orphadata	ORPHA:36426
HP:0004360	Abnormality of acid-base homeostasis	51204	TACO1	-	mim2gene	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	1374	CPT1A	-	mim2gene	OMIM:255120
HP:0004360	Abnormality of acid-base homeostasis	2542	SLC37A4	-	mim2gene	OMIM:232220
HP:0004360	Abnormality of acid-base homeostasis	2203	FBP1		orphadata	ORPHA:348
HP:0004360	Abnormality of acid-base homeostasis	5105	PCK1	question	mim2gene	OMIM:261680
HP:0004360	Abnormality of acid-base homeostasis	92609	TIMM50		orphadata	ORPHA:505216
HP:0004360	Abnormality of acid-base homeostasis	4724	NDUFS4		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	200205	IBA57	-	mim2gene	OMIM:615330
HP:0004360	Abnormality of acid-base homeostasis	56652	TWNK		orphadata	ORPHA:254892
HP:0004360	Abnormality of acid-base homeostasis	4572	TRNQ		orphadata	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	525	ATP6V1B1	-	mim2gene	OMIM:267300
HP:0004360	Abnormality of acid-base homeostasis	133686	NADK2		orphadata	ORPHA:431361
HP:0004360	Abnormality of acid-base homeostasis	4570	TRNN	-	mim2gene	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	6833	ABCC8	-	mim2gene	OMIM:606176
HP:0004360	Abnormality of acid-base homeostasis	4570	TRNN		orphadata	ORPHA:663
HP:0004360	Abnormality of acid-base homeostasis	4541	ND6	-	mim2gene	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	763	CA5A	-	mim2gene	OMIM:615751
HP:0004360	Abnormality of acid-base homeostasis	2335	FN1	-	mim2gene	OMIM:601894
HP:0004360	Abnormality of acid-base homeostasis	374291	NDUFS7		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	8802	SUCLG1	-	mim2gene	OMIM:245400
HP:0004360	Abnormality of acid-base homeostasis	6338	SCNN1B	-	mim2gene	OMIM:264350
HP:0004360	Abnormality of acid-base homeostasis	779	CACNA1S		orphadata	ORPHA:423
HP:0004360	Abnormality of acid-base homeostasis	2625	GATA3	-	mim2gene	OMIM:146255
HP:0004360	Abnormality of acid-base homeostasis	90624	LYRM7	-	mim2gene	OMIM:615838
HP:0004360	Abnormality of acid-base homeostasis	708	C1QBP	-	mim2gene	OMIM:617713
HP:0004360	Abnormality of acid-base homeostasis	57724	EPG5	-	mim2gene	OMIM:242840
HP:0004360	Abnormality of acid-base homeostasis	51520	LARS1	question	mim2gene	OMIM:615438
HP:0004360	Abnormality of acid-base homeostasis	2908	NR3C1	-	mim2gene	OMIM:615962
HP:0004360	Abnormality of acid-base homeostasis	8838	CCN6		orphadata	ORPHA:1159
HP:0004360	Abnormality of acid-base homeostasis	63931	MRPS14	question	mim2gene	OMIM:618378
HP:0004360	Abnormality of acid-base homeostasis	26191	PTPN22	susceptibility	mim2gene	OMIM:222100
HP:0004360	Abnormality of acid-base homeostasis	1737	DLAT	-	mim2gene	OMIM:245348
HP:0004360	Abnormality of acid-base homeostasis	4566	TRNK		orphadata	ORPHA:1349
HP:0004360	Abnormality of acid-base homeostasis	10128	LRPPRC	-	mim2gene	OMIM:220111
HP:0004360	Abnormality of acid-base homeostasis	84693	MCEE	-	mim2gene	OMIM:251120
HP:0004360	Abnormality of acid-base homeostasis	4577	TRNV	-	mim2gene	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	56652	TWNK	-	mim2gene	OMIM:607459
HP:0004360	Abnormality of acid-base homeostasis	26249	KLHL3	-	mim2gene	OMIM:614495
HP:0004360	Abnormality of acid-base homeostasis	65266	WNK4	-	mim2gene	OMIM:614491
HP:0004360	Abnormality of acid-base homeostasis	1497	CTNS	-	mim2gene	OMIM:219800
HP:0004360	Abnormality of acid-base homeostasis	5096	PCCB	-	mim2gene	OMIM:606054
HP:0004360	Abnormality of acid-base homeostasis	29078	NDUFAF4		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	3938	LCT	-	mim2gene	OMIM:223000
HP:0004360	Abnormality of acid-base homeostasis	6521	SLC4A1	-	mim2gene	OMIM:611590
HP:0004360	Abnormality of acid-base homeostasis	55750	AGK	-	mim2gene	OMIM:212350
HP:0004360	Abnormality of acid-base homeostasis	229	ALDOB		orphadata	ORPHA:469
HP:0004360	Abnormality of acid-base homeostasis	115286	SLC25A26	-	mim2gene	OMIM:616794
HP:0004360	Abnormality of acid-base homeostasis	4853	NOTCH2	-	mim2gene	OMIM:610205
HP:0004360	Abnormality of acid-base homeostasis	514	ATP5F1E	question	mim2gene	OMIM:614053
HP:0004360	Abnormality of acid-base homeostasis	182	JAG1	-	mim2gene	OMIM:118450
HP:0004360	Abnormality of acid-base homeostasis	4578	TRNW	-	mim2gene	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	51021	MRPS16	-	mim2gene	OMIM:610498
HP:0004360	Abnormality of acid-base homeostasis	7809	BSND	-	mim2gene	OMIM:602522
HP:0004360	Abnormality of acid-base homeostasis	51117	COQ4	-	mim2gene	OMIM:616276
HP:0004360	Abnormality of acid-base homeostasis	26235	FBXL4	-	mim2gene	OMIM:615471
HP:0004360	Abnormality of acid-base homeostasis	686	BTD	-	mim2gene	OMIM:253260
HP:0004360	Abnormality of acid-base homeostasis	5053	PAH	-	mim2gene	OMIM:261600
HP:0004360	Abnormality of acid-base homeostasis	10686	CLDN16	-	mim2gene	OMIM:248250
HP:0004360	Abnormality of acid-base homeostasis	2908	NR3C1		orphadata	ORPHA:786
HP:0004360	Abnormality of acid-base homeostasis	9101	USP8	-	mim2gene	OMIM:219090
HP:0004360	Abnormality of acid-base homeostasis	686	BTD		orphadata	ORPHA:79241
HP:0004360	Abnormality of acid-base homeostasis	4720	NDUFS2		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	50674	NEUROG3		orphadata	ORPHA:83620
HP:0004360	Abnormality of acid-base homeostasis	83483	PLVAP	-	mim2gene	OMIM:618183
HP:0004360	Abnormality of acid-base homeostasis	388962	BOLA3	-	mim2gene	OMIM:614299
HP:0004360	Abnormality of acid-base homeostasis	80324	PUS1		orphadata	ORPHA:2598
HP:0004360	Abnormality of acid-base homeostasis	125988	MICOS13	-	mim2gene	OMIM:618329
HP:0004360	Abnormality of acid-base homeostasis	291	SLC25A4		orphadata	ORPHA:254892
HP:0004360	Abnormality of acid-base homeostasis	6337	SCNN1A	-	mim2gene	OMIM:264350
HP:0004360	Abnormality of acid-base homeostasis	790955	UQCC3	question	mim2gene	OMIM:616111
HP:0004360	Abnormality of acid-base homeostasis	23474	ETHE1	-	mim2gene	OMIM:602473
HP:0004360	Abnormality of acid-base homeostasis	38	ACAT1		orphadata	ORPHA:134
HP:0004360	Abnormality of acid-base homeostasis	7385	UQCRC2	-	mim2gene	OMIM:615160
HP:0004360	Abnormality of acid-base homeostasis	5160	PDHA1		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	92609	TIMM50	-	mim2gene	OMIM:617698
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG	-	mim2gene	OMIM:157640
HP:0004360	Abnormality of acid-base homeostasis	55065	SLC52A1	-	mim2gene	OMIM:615026
HP:0004360	Abnormality of acid-base homeostasis	9581	PREPL		orphadata	ORPHA:163693
HP:0004360	Abnormality of acid-base homeostasis	5019	OXCT1	-	mim2gene	OMIM:245050
HP:0004360	Abnormality of acid-base homeostasis	60386	SLC25A19	-	mim2gene	OMIM:607196
HP:0004360	Abnormality of acid-base homeostasis	1585	CYP11B2		orphadata	ORPHA:427
HP:0004360	Abnormality of acid-base homeostasis	57107	PDSS2		orphadata	ORPHA:255249
HP:0004360	Abnormality of acid-base homeostasis	4723	NDUFV1		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	4541	ND6		orphadata	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	2542	SLC37A4	-	mim2gene	OMIM:232240
HP:0004360	Abnormality of acid-base homeostasis	55157	DARS2		orphadata	ORPHA:137898
HP:0004360	Abnormality of acid-base homeostasis	8942	KYNU	question	mim2gene	OMIM:236800
HP:0004360	Abnormality of acid-base homeostasis	6514	SLC2A2	-	mim2gene	OMIM:227810
HP:0004360	Abnormality of acid-base homeostasis	246243	RNASEH1	-	mim2gene	OMIM:616479
HP:0004360	Abnormality of acid-base homeostasis	10667	FARS2	-	mim2gene	OMIM:614946
HP:0004360	Abnormality of acid-base homeostasis	1188	CLCNKB	-	mim2gene	OMIM:607364
HP:0004360	Abnormality of acid-base homeostasis	51079	NDUFA13	question	mim2gene	OMIM:618249
HP:0004360	Abnormality of acid-base homeostasis	4558	TRNF	-	mim2gene	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	54539	NDUFB11		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	124454	EARS2	-	mim2gene	OMIM:614924
HP:0004360	Abnormality of acid-base homeostasis	9451	EIF2AK3		orphadata	ORPHA:1667
HP:0004360	Abnormality of acid-base homeostasis	1716	DGUOK	-	mim2gene	OMIM:617070
HP:0004360	Abnormality of acid-base homeostasis	25915	NDUFAF3	-	mim2gene	OMIM:618240
HP:0004360	Abnormality of acid-base homeostasis	126328	NDUFA11	-	mim2gene	OMIM:618236
HP:0004360	Abnormality of acid-base homeostasis	37	ACADVL		orphadata	ORPHA:26793
HP:0004360	Abnormality of acid-base homeostasis	3155	HMGCL	-	mim2gene	OMIM:246450
HP:0004360	Abnormality of acid-base homeostasis	1738	DLD	-	mim2gene	OMIM:246900
HP:0004360	Abnormality of acid-base homeostasis	27249	MMADHC	-	mim2gene	OMIM:277410
HP:0004360	Abnormality of acid-base homeostasis	4695	NDUFA2		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	5826	ABCD4	-	mim2gene	OMIM:614857
HP:0004360	Abnormality of acid-base homeostasis	6261	RYR1		orphadata	ORPHA:423
HP:0004360	Abnormality of acid-base homeostasis	1586	CYP17A1	-	mim2gene	OMIM:202110
HP:0004360	Abnormality of acid-base homeostasis	3766	KCNJ10	-	mim2gene	OMIM:612780
HP:0004360	Abnormality of acid-base homeostasis	4575	TRNS2	-	mim2gene	OMIM:540000
HP:0004360	Abnormality of acid-base homeostasis	57539	WDR35	-	mim2gene	OMIM:613610
HP:0004360	Abnormality of acid-base homeostasis	57038	RARS2	-	mim2gene	OMIM:611523
HP:0004360	Abnormality of acid-base homeostasis	4537	ND3		orphadata	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	4567	TRNL1	-	mim2gene	OMIM:545000
HP:0004360	Abnormality of acid-base homeostasis	11232	POLG2		orphadata	ORPHA:254892
HP:0004360	Abnormality of acid-base homeostasis	374291	NDUFS7		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	50484	RRM2B	-	mim2gene	OMIM:612075
HP:0004360	Abnormality of acid-base homeostasis	65993	MRPS34	-	mim2gene	OMIM:617664
HP:0004360	Abnormality of acid-base homeostasis	54704	PDP1	-	mim2gene	OMIM:608782
HP:0004360	Abnormality of acid-base homeostasis	56652	TWNK	-	mim2gene	OMIM:616138
HP:0004360	Abnormality of acid-base homeostasis	55163	PNPO	-	mim2gene	OMIM:610090
HP:0004360	Abnormality of acid-base homeostasis	4645	MYO5B		orphadata	ORPHA:2290
HP:0004360	Abnormality of acid-base homeostasis	1537	CYC1	-	mim2gene	OMIM:615453
HP:0004360	Abnormality of acid-base homeostasis	166785	MMAA	-	mim2gene	OMIM:251100
HP:0004360	Abnormality of acid-base homeostasis	137682	NDUFAF6		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	4578	TRNW	-	mim2gene	OMIM:251900
HP:0004360	Abnormality of acid-base homeostasis	291	SLC25A4	-	mim2gene	OMIM:617184
HP:0004360	Abnormality of acid-base homeostasis	4575	TRNS2		orphadata	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	25828	TXN2	question	mim2gene	OMIM:616811
HP:0004360	Abnormality of acid-base homeostasis	2937	GSS	-	mim2gene	OMIM:266130
HP:0004360	Abnormality of acid-base homeostasis	25828	TXN2		orphadata	ORPHA:478029
HP:0004360	Abnormality of acid-base homeostasis	3939	LDHA	-	mim2gene	OMIM:612933
HP:0004360	Abnormality of acid-base homeostasis	4705	NDUFA10		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	2538	G6PC	-	mim2gene	OMIM:232200
HP:0004360	Abnormality of acid-base homeostasis	4729	NDUFV2		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	51601	LIPT1	-	mim2gene	OMIM:616299
HP:0004360	Abnormality of acid-base homeostasis	79133	NDUFAF5	-	mim2gene	OMIM:618238
HP:0004360	Abnormality of acid-base homeostasis	79587	CARS2	-	mim2gene	OMIM:616672
HP:0004360	Abnormality of acid-base homeostasis	79731	NARS2	-	mim2gene	OMIM:616239
HP:0004360	Abnormality of acid-base homeostasis	4723	NDUFV1		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	51103	NDUFAF1	-	mim2gene	OMIM:618234
HP:0004360	Abnormality of acid-base homeostasis	2592	GALT	-	mim2gene	OMIM:230400
HP:0004360	Abnormality of acid-base homeostasis	4191	MDH2	-	mim2gene	OMIM:617339
HP:0004360	Abnormality of acid-base homeostasis	39	ACAT2	question	mim2gene	OMIM:614055
HP:0004360	Abnormality of acid-base homeostasis	4574	TRNS1	-	mim2gene	OMIM:220110
HP:0004360	Abnormality of acid-base homeostasis	4556	TRNE		orphadata	ORPHA:254864
HP:0004360	Abnormality of acid-base homeostasis	4567	TRNL1		orphadata	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	6559	SLC12A3	-	mim2gene	OMIM:263800
HP:0004360	Abnormality of acid-base homeostasis	11232	POLG2	-	mim2gene	OMIM:610131
HP:0004360	Abnormality of acid-base homeostasis	4722	NDUFS3		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	4967	OGDH	-	mim2gene	OMIM:203740
HP:0004360	Abnormality of acid-base homeostasis	27068	PPA2	-	mim2gene	OMIM:617222
HP:0004360	Abnormality of acid-base homeostasis	1807	DPYS	-	mim2gene	OMIM:222748
HP:0004360	Abnormality of acid-base homeostasis	189	AGXT	-	mim2gene	OMIM:259900
HP:0004360	Abnormality of acid-base homeostasis	4535	ND1		orphadata	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	51601	LIPT1		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	4728	NDUFS8		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	112812	FDX2	-	mim2gene	OMIM:251900
HP:0004360	Abnormality of acid-base homeostasis	65080	MRPL44	question	mim2gene	OMIM:615395
HP:0004360	Abnormality of acid-base homeostasis	3630	INS	-	mim2gene	OMIM:613370
HP:0004360	Abnormality of acid-base homeostasis	4565	TRNI	-	mim2gene	OMIM:545000
HP:0004360	Abnormality of acid-base homeostasis	10320	IKZF1		orphadata	ORPHA:36426
HP:0004360	Abnormality of acid-base homeostasis	55863	TMEM126B	-	mim2gene	OMIM:618250
HP:0004360	Abnormality of acid-base homeostasis	6559	SLC12A3		orphadata	ORPHA:358
HP:0004360	Abnormality of acid-base homeostasis	776	CACNA1D	-	mim2gene	OMIM:615474
HP:0004360	Abnormality of acid-base homeostasis	6473	SHOX		orphadata	ORPHA:314795
HP:0004360	Abnormality of acid-base homeostasis	5428	POLG	-	mim2gene	OMIM:603041
HP:0004360	Abnormality of acid-base homeostasis	131118	DNAJC19		orphadata	ORPHA:66634
HP:0004360	Abnormality of acid-base homeostasis	4535	ND1		orphadata	ORPHA:550
HP:0004360	Abnormality of acid-base homeostasis	3172	HNF4A		orphadata	ORPHA:263455
HP:0004360	Abnormality of acid-base homeostasis	9997	SCO2		orphadata	ORPHA:70474
HP:0004360	Abnormality of acid-base homeostasis	3767	KCNJ11	-	mim2gene	OMIM:606176
HP:0004360	Abnormality of acid-base homeostasis	8803	SUCLA2	-	mim2gene	OMIM:612073
HP:0004360	Abnormality of acid-base homeostasis	56997	COQ8A		orphadata	ORPHA:139485
HP:0004360	Abnormality of acid-base homeostasis	5091	PC	-	mim2gene	OMIM:266150
HP:0004360	Abnormality of acid-base homeostasis	4952	OCRL		orphadata	ORPHA:534
HP:0004360	Abnormality of acid-base homeostasis	4704	NDUFA9		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	2271	FH	-	mim2gene	OMIM:606812
HP:0004360	Abnormality of acid-base homeostasis	9997	SCO2	-	mim2gene	OMIM:604377
HP:0004360	Abnormality of acid-base homeostasis	1583	CYP11A1		orphadata	ORPHA:168558
HP:0004360	Abnormality of acid-base homeostasis	3033	HADH		orphadata	ORPHA:71212
HP:0004360	Abnormality of acid-base homeostasis	128989	TANGO2	-	mim2gene	OMIM:616878
HP:0004360	Abnormality of acid-base homeostasis	11232	POLG2	-	mim2gene	OMIM:618528
HP:0004360	Abnormality of acid-base homeostasis	6389	SDHA	-	mim2gene	OMIM:252011
HP:0004360	Abnormality of acid-base homeostasis	87178	PNPT1		orphadata	ORPHA:319514
HP:0004360	Abnormality of acid-base homeostasis	4566	TRNK		orphadata	ORPHA:255210
HP:0004360	Abnormality of acid-base homeostasis	60386	SLC25A19		orphadata	ORPHA:99742
HP:0004360	Abnormality of acid-base homeostasis	6519	SLC3A1		orphadata	ORPHA:163693
HP:0004360	Abnormality of acid-base homeostasis	65125	WNK1	-	mim2gene	OMIM:614492
HP:0004360	Abnormality of acid-base homeostasis	2110	ETFDH	-	mim2gene	OMIM:231680
HP:0004360	Abnormality of acid-base homeostasis	9997	SCO2		orphadata	ORPHA:521411
HP:0004360	Abnormality of acid-base homeostasis	4714	NDUFB8	-	mim2gene	OMIM:618252
HP:0004360	Abnormality of acid-base homeostasis	7284	TUFM	-	mim2gene	OMIM:610678
HP:0004360	Abnormality of acid-base homeostasis	4306	NR3C2	-	mim2gene	OMIM:177735
HP:0004360	Abnormality of acid-base homeostasis	4537	ND3		orphadata	ORPHA:2609
HP:0004360	Abnormality of acid-base homeostasis	8869	ST3GAL5		orphadata	ORPHA:171714
HP:0004360	Abnormality of acid-base homeostasis	388753	COA6	-	mim2gene	OMIM:616501
HP:0004360	Abnormality of acid-base homeostasis	1716	DGUOK	-	mim2gene	OMIM:251880
HP:0004360	Abnormality of acid-base homeostasis	4594	MMUT	-	mim2gene	OMIM:251000
HP:0004360	Abnormality of acid-base homeostasis	100131801	PET100		orphadata	ORPHA:255241
HP:0004360	Abnormality of acid-base homeostasis	400916	CHCHD10	question	mim2gene	OMIM:616209
HP:0004360	Abnormality of acid-base homeostasis	1497	CTNS		orphadata	ORPHA:411629
HP:0004360	Abnormality of acid-base homeostasis	3032	HADHB	-	mim2gene	OMIM:609015
HP:0004360	Abnormality of acid-base homeostasis	5256	PHKA2		orphadata	ORPHA:264580
HP:0004360	Abnormality of acid-base homeostasis	51067	YARS2	-	mim2gene	OMIM:613561
HP:0004360	Abnormality of acid-base homeostasis	54938	SARS2	-	mim2gene	OMIM:613845
HP:0004360	Abnormality of acid-base homeostasis	84300	UQCC2	-	mim2gene	OMIM:615824
HP:0004360	Abnormality of acid-base homeostasis	8867	SYNJ1	-	mim2gene	OMIM:617389
HP:0004360	Abnormality of acid-base homeostasis	85476	GFM1	-	mim2gene	OMIM:609060
HP:0004360	Abnormality of acid-base homeostasis	5095	PCCA	-	mim2gene	OMIM:606054
HP:0004360	Abnormality of acid-base homeostasis	55163	PNPO		orphadata	ORPHA:79096
HP:0004360	Abnormality of acid-base homeostasis	4720	NDUFS2	-	mim2gene	OMIM:618228
HP:0004360	Abnormality of acid-base homeostasis	51095	TRNT1	-	mim2gene	OMIM:616084
HP:0004360	Abnormality of acid-base homeostasis	5250	SLC25A3	-	mim2gene	OMIM:610773
HP:0004360	Abnormality of acid-base homeostasis	9512	PMPCB	-	mim2gene	OMIM:617954
HP:0004360	Abnormality of acid-base homeostasis	90161	HS6ST2	question	mim2gene	OMIM:301025
HP:0004360	Abnormality of acid-base homeostasis	25974	MMACHC	-	mim2gene	OMIM:277400
HP:0004360	Abnormality of acid-base homeostasis	3712	IVD	-	mim2gene	OMIM:243500
HP:0004360	Abnormality of acid-base homeostasis	4724	NDUFS4	-	mim2gene	OMIM:252010
HP:0004360	Abnormality of acid-base homeostasis	2203	FBP1	-	mim2gene	OMIM:229700
HP:0004360	Abnormality of acid-base homeostasis	2639	GCDH	-	mim2gene	OMIM:231670
HP:0004360	Abnormality of acid-base homeostasis	50484	RRM2B		orphadata	ORPHA:298
HP:0004360	Abnormality of acid-base homeostasis	4728	NDUFS8		orphadata	ORPHA:255241
HP:0004361	Abnormality of circulating leptin level	3952	LEP		orphadata	ORPHA:66628
HP:0004361	Abnormality of circulating leptin level	3991	LIPE		orphadata	ORPHA:435660
HP:0004361	Abnormality of circulating leptin level	26580	BSCL2	-	mim2gene	OMIM:269700
HP:0004361	Abnormality of circulating leptin level	208	AKT2		orphadata	ORPHA:79085
HP:0004361	Abnormality of circulating leptin level	3953	LEPR		orphadata	ORPHA:179494
HP:0004361	Abnormality of circulating leptin level	4000	LMNA		orphadata	ORPHA:280365
HP:0004361	Abnormality of circulating leptin level	4000	LMNA		orphadata	ORPHA:79474
HP:0004361	Abnormality of circulating leptin level	63924	CIDEC		orphadata	ORPHA:435651
HP:0004361	Abnormality of circulating leptin level	3952	LEP	-	mim2gene	OMIM:614962
HP:0004361	Abnormality of circulating leptin level	10555	AGPAT2	-	mim2gene	OMIM:608594
HP:0004362	Abnormality of enteric ganglion morphology	1889	ECE1		orphadata	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	72	ACTG2		orphadata	ORPHA:2604
HP:0004362	Abnormality of enteric ganglion morphology	10804	GJB6		orphadata	ORPHA:477
HP:0004362	Abnormality of enteric ganglion morphology	3815	KIT		orphadata	ORPHA:2884
HP:0004362	Abnormality of enteric ganglion morphology	4902	NRTN		orphadata	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	65250	CPLANE1		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	627	BDNF		orphadata	ORPHA:661
HP:0004362	Abnormality of enteric ganglion morphology	23322	RPGRIP1L		orphadata	ORPHA:220497
HP:0004362	Abnormality of enteric ganglion morphology	5077	PAX3		orphadata	ORPHA:894
HP:0004362	Abnormality of enteric ganglion morphology	51360	MBTPS2	-	mim2gene	OMIM:308205
HP:0004362	Abnormality of enteric ganglion morphology	2706	GJB2		orphadata	ORPHA:477
HP:0004362	Abnormality of enteric ganglion morphology	1910	EDNRB	-	mim2gene	OMIM:600501
HP:0004362	Abnormality of enteric ganglion morphology	8195	MKKS	-	mim2gene	OMIM:236700
HP:0004362	Abnormality of enteric ganglion morphology	5979	RET		orphadata	ORPHA:99803
HP:0004362	Abnormality of enteric ganglion morphology	55159	RFWD3		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	56623	INPP5E		orphadata	ORPHA:220493
HP:0004362	Abnormality of enteric ganglion morphology	8929	PHOX2B	-	mim2gene	OMIM:613013
HP:0004362	Abnormality of enteric ganglion morphology	79867	TCTN2		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	403	ARL3		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	27077	B9D1		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	1910	EDNRB		orphadata	ORPHA:897
HP:0004362	Abnormality of enteric ganglion morphology	79600	TCTN1		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	6023	RMRP		orphadata	ORPHA:175
HP:0004362	Abnormality of enteric ganglion morphology	546	ATRX		orphadata	ORPHA:847
HP:0004362	Abnormality of enteric ganglion morphology	153241	CEP120		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	5979	RET		orphadata	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	8929	PHOX2B		orphadata	ORPHA:2151
HP:0004362	Abnormality of enteric ganglion morphology	1908	EDN3		orphadata	ORPHA:897
HP:0004362	Abnormality of enteric ganglion morphology	9487	PIGL		orphadata	ORPHA:247262
HP:0004362	Abnormality of enteric ganglion morphology	80184	CEP290		orphadata	ORPHA:2318
HP:0004362	Abnormality of enteric ganglion morphology	79848	CSPP1		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	2187	FANCB		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	1717	DHCR7	-	mim2gene	OMIM:270400
HP:0004362	Abnormality of enteric ganglion morphology	5888	RAD51		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	429	ASCL1		orphadata	ORPHA:99803
HP:0004362	Abnormality of enteric ganglion morphology	6663	SOX10	-	mim2gene	OMIM:609136
HP:0004362	Abnormality of enteric ganglion morphology	80210	ARMC9		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	6023	RMRP	-	mim2gene	OMIM:250250
HP:0004362	Abnormality of enteric ganglion morphology	429	ASCL1	-	mim2gene	OMIM:209880
HP:0004362	Abnormality of enteric ganglion morphology	6899	TBX1		orphadata	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	2812	GP1BB		orphadata	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	84720	PIGO	-	mim2gene	OMIM:614749
HP:0004362	Abnormality of enteric ganglion morphology	2668	GDNF	-	mim2gene	OMIM:209880
HP:0004362	Abnormality of enteric ganglion morphology	72	ACTG2	-	mim2gene	OMIM:155310
HP:0004362	Abnormality of enteric ganglion morphology	2668	GDNF		orphadata	ORPHA:661
HP:0004362	Abnormality of enteric ganglion morphology	2177	FANCD2		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	65062	TMEM237		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	5077	PAX3	-	mim2gene	OMIM:148820
HP:0004362	Abnormality of enteric ganglion morphology	6663	SOX10		orphadata	ORPHA:895
HP:0004362	Abnormality of enteric ganglion morphology	54880	BCOR	-	mim2gene	OMIM:309800
HP:0004362	Abnormality of enteric ganglion morphology	57167	SALL4	-	mim2gene	OMIM:607323
HP:0004362	Abnormality of enteric ganglion morphology	1889	ECE1	question	mim2gene	OMIM:613870
HP:0004362	Abnormality of enteric ganglion morphology	1910	EDNRB		orphadata	ORPHA:895
HP:0004362	Abnormality of enteric ganglion morphology	2072	ERCC4		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	84720	PIGO		orphadata	ORPHA:247262
HP:0004362	Abnormality of enteric ganglion morphology	55215	FANCI		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	26128	KIFBP		orphadata	ORPHA:66629
HP:0004362	Abnormality of enteric ganglion morphology	57545	CC2D2A		orphadata	ORPHA:2318
HP:0004362	Abnormality of enteric ganglion morphology	95681	CEP41		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	1910	EDNRB		orphadata	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	23233	EXOC6B		orphadata	ORPHA:93359
HP:0004362	Abnormality of enteric ganglion morphology	1910	EDNRB	susceptibility	mim2gene	OMIM:600155
HP:0004362	Abnormality of enteric ganglion morphology	8195	MKKS		orphadata	ORPHA:2473
HP:0004362	Abnormality of enteric ganglion morphology	672	BRCA1		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	5979	RET	-	mim2gene	OMIM:171400
HP:0004362	Abnormality of enteric ganglion morphology	6663	SOX10	-	mim2gene	OMIM:613266
HP:0004362	Abnormality of enteric ganglion morphology	10459	MAD2L2		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	56623	INPP5E		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	23247	KIAA0556		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	6925	TCF4		orphadata	ORPHA:2896
HP:0004362	Abnormality of enteric ganglion morphology	6591	SNAI2	-	mim2gene	OMIM:172800
HP:0004362	Abnormality of enteric ganglion morphology	6591	SNAI2		orphadata	ORPHA:2884
HP:0004362	Abnormality of enteric ganglion morphology	3845	KRAS		orphadata	ORPHA:3339
HP:0004362	Abnormality of enteric ganglion morphology	2188	FANCF		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	79140	CCDC28B	susceptibility; modifier	mim2gene	OMIM:209900
HP:0004362	Abnormality of enteric ganglion morphology	8929	PHOX2B		orphadata	ORPHA:99803
HP:0004362	Abnormality of enteric ganglion morphology	7516	XRCC2		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	57167	SALL4		orphadata	ORPHA:959
HP:0004362	Abnormality of enteric ganglion morphology	675	BRCA2		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	55650	PIGV		orphadata	ORPHA:247262
HP:0004362	Abnormality of enteric ganglion morphology	5979	RET	susceptibility	mim2gene	OMIM:142623
HP:0004362	Abnormality of enteric ganglion morphology	2668	GDNF		orphadata	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	54903	MKS1		orphadata	ORPHA:220493
HP:0004362	Abnormality of enteric ganglion morphology	84992	PIGY		orphadata	ORPHA:247262
HP:0004362	Abnormality of enteric ganglion morphology	1908	EDN3	-	mim2gene	OMIM:209880
HP:0004362	Abnormality of enteric ganglion morphology	6591	SNAI2		orphadata	ORPHA:895
HP:0004362	Abnormality of enteric ganglion morphology	83479	DDX59	-	mim2gene	OMIM:174300
HP:0004362	Abnormality of enteric ganglion morphology	1717	DHCR7		orphadata	ORPHA:818
HP:0004362	Abnormality of enteric ganglion morphology	2175	FANCA		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	79583	TMEM231		orphadata	ORPHA:2318
HP:0004362	Abnormality of enteric ganglion morphology	3897	L1CAM		orphadata	ORPHA:1497
HP:0004362	Abnormality of enteric ganglion morphology	170302	ARX		orphadata	ORPHA:452
HP:0004362	Abnormality of enteric ganglion morphology	84464	SLX4		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	93210	PGAP3		orphadata	ORPHA:247262
HP:0004362	Abnormality of enteric ganglion morphology	7290	HIRA		orphadata	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	9786	KIAA0586		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	8929	PHOX2B	-	mim2gene	OMIM:209880
HP:0004362	Abnormality of enteric ganglion morphology	9839	ZEB2	-	mim2gene	OMIM:235730
HP:0004362	Abnormality of enteric ganglion morphology	153241	CEP120		orphadata	ORPHA:220493
HP:0004362	Abnormality of enteric ganglion morphology	3897	L1CAM	-	mim2gene	OMIM:304100
HP:0004362	Abnormality of enteric ganglion morphology	54806	AHI1		orphadata	ORPHA:220493
HP:0004362	Abnormality of enteric ganglion morphology	4286	MITF		orphadata	ORPHA:897
HP:0004362	Abnormality of enteric ganglion morphology	1908	EDN3		orphadata	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	1908	EDN3	susceptibility	mim2gene	OMIM:613712
HP:0004362	Abnormality of enteric ganglion morphology	27315	PGAP2		orphadata	ORPHA:247262
HP:0004362	Abnormality of enteric ganglion morphology	65062	TMEM237		orphadata	ORPHA:220497
HP:0004362	Abnormality of enteric ganglion morphology	2033	EP300	-	mim2gene	OMIM:180849
HP:0004362	Abnormality of enteric ganglion morphology	6925	TCF4		orphadata	ORPHA:2896
HP:0004362	Abnormality of enteric ganglion morphology	10512	SEMA3C		orphadata	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	55120	FANCL		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	25970	SH2B1		orphadata	ORPHA:261222
HP:0004362	Abnormality of enteric ganglion morphology	91147	TMEM67		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	2294	FOXF1		orphadata	ORPHA:210122
HP:0004362	Abnormality of enteric ganglion morphology	284098	PIGW		orphadata	ORPHA:247262
HP:0004362	Abnormality of enteric ganglion morphology	6239	RREB1		orphadata	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	79728	PALB2		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	1910	EDNRB	-	mim2gene	OMIM:277580
HP:0004362	Abnormality of enteric ganglion morphology	54806	AHI1		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	582	BBS1	-	mim2gene	OMIM:209900
HP:0004362	Abnormality of enteric ganglion morphology	1908	EDN3	-	mim2gene	OMIM:613265
HP:0004362	Abnormality of enteric ganglion morphology	5979	RET	-	mim2gene	OMIM:162300
HP:0004362	Abnormality of enteric ganglion morphology	6663	SOX10		orphadata	ORPHA:897
HP:0004362	Abnormality of enteric ganglion morphology	10262	SF3B4	-	mim2gene	OMIM:154400
HP:0004362	Abnormality of enteric ganglion morphology	219844	HYLS1		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	6535	SLC6A8	-	mim2gene	OMIM:300352
HP:0004362	Abnormality of enteric ganglion morphology	1908	EDN3		orphadata	ORPHA:661
HP:0004362	Abnormality of enteric ganglion morphology	9731	CEP104		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	2178	FANCE		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	3815	KIT	-	mim2gene	OMIM:172800
HP:0004362	Abnormality of enteric ganglion morphology	57697	FANCM		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	51259	TMEM216		orphadata	ORPHA:2318
HP:0004362	Abnormality of enteric ganglion morphology	5979	RET	-	mim2gene	OMIM:209880
HP:0004362	Abnormality of enteric ganglion morphology	4286	MITF		orphadata	ORPHA:895
HP:0004362	Abnormality of enteric ganglion morphology	126792	B3GALT6		orphadata	ORPHA:93359
HP:0004362	Abnormality of enteric ganglion morphology	23090	ZNF423		orphadata	ORPHA:2318
HP:0004362	Abnormality of enteric ganglion morphology	10464	PIBF1		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	421	ARVCF		orphadata	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	54903	MKS1		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	9632	SEC24C		orphadata	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	4867	NPHP1		orphadata	ORPHA:220497
HP:0004362	Abnormality of enteric ganglion morphology	65062	TMEM237		orphadata	ORPHA:2318
HP:0004362	Abnormality of enteric ganglion morphology	2189	FANCG		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	2176	FANCC		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	55650	PIGV	-	mim2gene	OMIM:239300
HP:0004362	Abnormality of enteric ganglion morphology	6663	SOX10		orphadata	ORPHA:163746
HP:0004362	Abnormality of enteric ganglion morphology	83990	BRIP1		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	283446	MYO1H		orphadata	ORPHA:661
HP:0004362	Abnormality of enteric ganglion morphology	2668	GDNF	susceptibility	mim2gene	OMIM:613711
HP:0004362	Abnormality of enteric ganglion morphology	26040	SETBP1		orphadata	ORPHA:798
HP:0004362	Abnormality of enteric ganglion morphology	23556	PIGN		orphadata	ORPHA:2059
HP:0004362	Abnormality of enteric ganglion morphology	8929	PHOX2B		orphadata	ORPHA:661
HP:0004362	Abnormality of enteric ganglion morphology	221037	JMJD1C		orphadata	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	95681	CEP41		orphadata	ORPHA:220493
HP:0004362	Abnormality of enteric ganglion morphology	1387	CREBBP	-	mim2gene	OMIM:180849
HP:0004362	Abnormality of enteric ganglion morphology	51360	MBTPS2		orphadata	ORPHA:2273
HP:0004362	Abnormality of enteric ganglion morphology	200894	ARL13B		orphadata	ORPHA:475
HP:0004362	Abnormality of enteric ganglion morphology	223117	SEMA3D		orphadata	ORPHA:388
HP:0004362	Abnormality of enteric ganglion morphology	6899	TBX1		orphadata	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	1312	COMT		orphadata	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	7353	UFD1		orphadata	ORPHA:567
HP:0004362	Abnormality of enteric ganglion morphology	4254	KITLG		orphadata	ORPHA:895
HP:0004362	Abnormality of enteric ganglion morphology	5889	RAD51C		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	29089	UBE2T		orphadata	ORPHA:84
HP:0004362	Abnormality of enteric ganglion morphology	83479	DDX59		orphadata	ORPHA:2919
HP:0004362	Abnormality of enteric ganglion morphology	51360	MBTPS2		orphadata	ORPHA:85284
HP:0004362	Abnormality of enteric ganglion morphology	2623	GATA1	-	mim2gene	OMIM:190685
HP:0004362	Abnormality of enteric ganglion morphology	8260	NAA10	question	mim2gene	OMIM:309800
HP:0004362	Abnormality of enteric ganglion morphology	6535	SLC6A8		orphadata	ORPHA:52503
HP:0004362	Abnormality of enteric ganglion morphology	51524	TMEM138		orphadata	ORPHA:2318
HP:0004362	Abnormality of enteric ganglion morphology	26128	KIFBP	-	mim2gene	OMIM:609460
HP:0004363	Abnormal circulating calcium concentration	197131	UBR1	-	mim2gene	OMIM:243800
HP:0004363	Abnormal circulating calcium concentration	2969	GTF2I		orphadata	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	55764	IFT122	-	mim2gene	OMIM:218330
HP:0004363	Abnormal circulating calcium concentration	37	ACADVL		orphadata	ORPHA:26793
HP:0004363	Abnormal circulating calcium concentration	8792	TNFRSF11A	-	mim2gene	OMIM:612301
HP:0004363	Abnormal circulating calcium concentration	8600	TNFSF11		orphadata	ORPHA:667
HP:0004363	Abnormal circulating calcium concentration	1436	CSF1R	-	mim2gene	OMIM:618476
HP:0004363	Abnormal circulating calcium concentration	120227	CYP2R1		orphadata	ORPHA:289157
HP:0004363	Abnormal circulating calcium concentration	9031	BAZ1B		orphadata	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	2767	GNA11		orphadata	ORPHA:428
HP:0004363	Abnormal circulating calcium concentration	54949	SDHAF2		orphadata	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	84876	ORAI1	-	mim2gene	OMIM:615883
HP:0004363	Abnormal circulating calcium concentration	857	CAV1	question	mim2gene	OMIM:612526
HP:0004363	Abnormal circulating calcium concentration	846	CASR		orphadata	ORPHA:428
HP:0004363	Abnormal circulating calcium concentration	5982	RFC2		orphadata	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	50943	FOXP3		orphadata	ORPHA:37042
HP:0004363	Abnormal circulating calcium concentration	63901	FAM111A		orphadata	ORPHA:93325
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73	-	mim2gene	OMIM:608266
HP:0004363	Abnormal circulating calcium concentration	6023	RMRP		orphadata	ORPHA:175
HP:0004363	Abnormal circulating calcium concentration	3032	HADHB		orphadata	ORPHA:746
HP:0004363	Abnormal circulating calcium concentration	4221	MEN1		orphadata	ORPHA:99879
HP:0004363	Abnormal circulating calcium concentration	8402	SLC25A11		orphadata	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	7421	VDR	-	mim2gene	OMIM:277440
HP:0004363	Abnormal circulating calcium concentration	5741	PTH	-	mim2gene	OMIM:146200
HP:0004363	Abnormal circulating calcium concentration	846	CASR	-	mim2gene	OMIM:239200
HP:0004363	Abnormal circulating calcium concentration	5745	PTH1R	-	mim2gene	OMIM:156400
HP:0004363	Abnormal circulating calcium concentration	5159	PDGFRB		orphadata	ORPHA:2591
HP:0004363	Abnormal circulating calcium concentration	9247	GCM2		orphadata	ORPHA:99879
HP:0004363	Abnormal circulating calcium concentration	7428	VHL		orphadata	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	6899	TBX1	-	mim2gene	OMIM:192430
HP:0004363	Abnormal circulating calcium concentration	6899	TBX1		orphadata	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	2812	GP1BB		orphadata	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	63901	FAM111A	-	mim2gene	OMIM:127000
HP:0004363	Abnormal circulating calcium concentration	9569	GTF2IRD1		orphadata	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	79087	ALG12	-	mim2gene	OMIM:607143
HP:0004363	Abnormal circulating calcium concentration	1591	CYP24A1	-	mim2gene	OMIM:143880
HP:0004363	Abnormal circulating calcium concentration	1030	CDKN2B		orphadata	ORPHA:652
HP:0004363	Abnormal circulating calcium concentration	2778	GNAS	-	mim2gene	OMIM:103580
HP:0004363	Abnormal circulating calcium concentration	1300	COL10A1		orphadata	ORPHA:174
HP:0004363	Abnormal circulating calcium concentration	55636	CHD7	-	mim2gene	OMIM:214800
HP:0004363	Abnormal circulating calcium concentration	6391	SDHC		orphadata	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	6569	SLC34A1	-	mim2gene	OMIM:616963
HP:0004363	Abnormal circulating calcium concentration	29887	SNX10		orphadata	ORPHA:667
HP:0004363	Abnormal circulating calcium concentration	9723	SEMA3E	question	mim2gene	OMIM:214800
HP:0004363	Abnormal circulating calcium concentration	1028	CDKN1C	-	mim2gene	OMIM:614732
HP:0004363	Abnormal circulating calcium concentration	6905	TBCE		orphadata	ORPHA:2323
HP:0004363	Abnormal circulating calcium concentration	2778	GNAS		orphadata	ORPHA:79444
HP:0004363	Abnormal circulating calcium concentration	1031	CDKN2C		orphadata	ORPHA:652
HP:0004363	Abnormal circulating calcium concentration	9247	GCM2	-	mim2gene	OMIM:617343
HP:0004363	Abnormal circulating calcium concentration	1175	AP2S1	-	mim2gene	OMIM:600740
HP:0004363	Abnormal circulating calcium concentration	3984	LIMK1		orphadata	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	63901	FAM111A	-	mim2gene	OMIM:602361
HP:0004363	Abnormal circulating calcium concentration	6905	TBCE	-	mim2gene	OMIM:244460
HP:0004363	Abnormal circulating calcium concentration	6392	SDHD		orphadata	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	2778	GNAS	-	mim2gene	OMIM:603233
HP:0004363	Abnormal circulating calcium concentration	1026	CDKN1A		orphadata	ORPHA:652
HP:0004363	Abnormal circulating calcium concentration	149775	GNAS-AS1	-	mim2gene	OMIM:603233
HP:0004363	Abnormal circulating calcium concentration	5979	RET	-	mim2gene	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	4191	MDH2		orphadata	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	2625	GATA3		orphadata	ORPHA:2237
HP:0004363	Abnormal circulating calcium concentration	6390	SDHB	-	mim2gene	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	5495	PPM1B		orphadata	ORPHA:163693
HP:0004363	Abnormal circulating calcium concentration	6899	TBX1	-	mim2gene	OMIM:188400
HP:0004363	Abnormal circulating calcium concentration	2767	GNA11	-	mim2gene	OMIM:145981
HP:0004363	Abnormal circulating calcium concentration	5144	PDE4D		orphadata	ORPHA:280651
HP:0004363	Abnormal circulating calcium concentration	6905	TBCE	-	mim2gene	OMIM:241410
HP:0004363	Abnormal circulating calcium concentration	7204	TRIO		orphadata	ORPHA:476126
HP:0004363	Abnormal circulating calcium concentration	79823	CAMKMT		orphadata	ORPHA:163693
HP:0004363	Abnormal circulating calcium concentration	9993	DGCR2	-	mim2gene	OMIM:192430
HP:0004363	Abnormal circulating calcium concentration	3123	HLA-DRB1		orphadata	ORPHA:797
HP:0004363	Abnormal circulating calcium concentration	775	CACNA1C	-	mim2gene	OMIM:601005
HP:0004363	Abnormal circulating calcium concentration	7290	HIRA		orphadata	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	51085	MLXIPL	-	mim2gene	OMIM:194050
HP:0004363	Abnormal circulating calcium concentration	1186	CLCN7		orphadata	ORPHA:667
HP:0004363	Abnormal circulating calcium concentration	7461	CLIP2		orphadata	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	8675	STX16		orphadata	ORPHA:94089
HP:0004363	Abnormal circulating calcium concentration	6559	SLC12A3		orphadata	ORPHA:358
HP:0004363	Abnormal circulating calcium concentration	54487	DGCR8	-	mim2gene	OMIM:192430
HP:0004363	Abnormal circulating calcium concentration	147372	CCBE1		orphadata	ORPHA:2136
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73		orphadata	ORPHA:143
HP:0004363	Abnormal circulating calcium concentration	10056	FARSB	-	mim2gene	OMIM:613658
HP:0004363	Abnormal circulating calcium concentration	2006	ELN		orphadata	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	1027	CDKN1B		orphadata	ORPHA:276152
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73	-	mim2gene	OMIM:145001
HP:0004363	Abnormal circulating calcium concentration	83483	PLVAP	-	mim2gene	OMIM:618183
HP:0004363	Abnormal circulating calcium concentration	8220	ESS2	-	mim2gene	OMIM:192430
HP:0004363	Abnormal circulating calcium concentration	6392	SDHD	-	mim2gene	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	4149	MAX	susceptibility	mim2gene	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	6239	RREB1		orphadata	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	6557	SLC12A1	-	mim2gene	OMIM:601678
HP:0004363	Abnormal circulating calcium concentration	1594	CYP27B1	-	mim2gene	OMIM:264700
HP:0004363	Abnormal circulating calcium concentration	1594	CYP27B1		orphadata	ORPHA:289157
HP:0004363	Abnormal circulating calcium concentration	9247	GCM2	-	mim2gene	OMIM:146200
HP:0004363	Abnormal circulating calcium concentration	55654	TMEM127	susceptibility	mim2gene	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	2778	GNAS		orphadata	ORPHA:94089
HP:0004363	Abnormal circulating calcium concentration	4221	MEN1	-	mim2gene	OMIM:131100
HP:0004363	Abnormal circulating calcium concentration	2778	GNAS		orphadata	ORPHA:79443
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73		orphadata	ORPHA:99879
HP:0004363	Abnormal circulating calcium concentration	6905	TBCE		orphadata	ORPHA:93324
HP:0004363	Abnormal circulating calcium concentration	6519	SLC3A1		orphadata	ORPHA:163693
HP:0004363	Abnormal circulating calcium concentration	140803	TRPM6	-	mim2gene	OMIM:602014
HP:0004363	Abnormal circulating calcium concentration	23095	KIF1B		orphadata	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	4149	MAX		orphadata	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	695	BTK		orphadata	ORPHA:47
HP:0004363	Abnormal circulating calcium concentration	26608	TBL2		orphadata	ORPHA:904
HP:0004363	Abnormal circulating calcium concentration	846	CASR	-	mim2gene	OMIM:145980
HP:0004363	Abnormal circulating calcium concentration	846	CASR	-	mim2gene	OMIM:601198
HP:0004363	Abnormal circulating calcium concentration	6521	SLC4A1	-	mim2gene	OMIM:179800
HP:0004363	Abnormal circulating calcium concentration	9508	ADAMTS3		orphadata	ORPHA:2136
HP:0004363	Abnormal circulating calcium concentration	5979	RET		orphadata	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	4854	NOTCH3		orphadata	ORPHA:2591
HP:0004363	Abnormal circulating calcium concentration	28962	OSTM1	-	mim2gene	OMIM:259720
HP:0004363	Abnormal circulating calcium concentration	2006	ELN	-	mim2gene	OMIM:194050
HP:0004363	Abnormal circulating calcium concentration	5286	PIK3C2A	-	mim2gene	OMIM:618440
HP:0004363	Abnormal circulating calcium concentration	421	ARVCF		orphadata	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	1186	CLCN7		orphadata	ORPHA:53
HP:0004363	Abnormal circulating calcium concentration	9581	PREPL		orphadata	ORPHA:163693
HP:0004363	Abnormal circulating calcium concentration	8214	DGCR6	-	mim2gene	OMIM:192430
HP:0004363	Abnormal circulating calcium concentration	9632	SEC24C		orphadata	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	2271	FH		orphadata	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	56244	BTNL2		orphadata	ORPHA:797
HP:0004363	Abnormal circulating calcium concentration	595	CCND1		orphadata	ORPHA:29073
HP:0004363	Abnormal circulating calcium concentration	55654	TMEM127		orphadata	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	3030	HADHA		orphadata	ORPHA:746
HP:0004363	Abnormal circulating calcium concentration	10312	TCIRG1		orphadata	ORPHA:667
HP:0004363	Abnormal circulating calcium concentration	2767	GNA11	-	mim2gene	OMIM:615361
HP:0004363	Abnormal circulating calcium concentration	2668	GDNF	susceptibility; modifier	mim2gene	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73	-	mim2gene	OMIM:145000
HP:0004363	Abnormal circulating calcium concentration	2778	GNAS	-	mim2gene	OMIM:612462
HP:0004363	Abnormal circulating calcium concentration	6389	SDHA		orphadata	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	221037	JMJD1C		orphadata	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	23095	KIF1B	-	mim2gene	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	4221	MEN1		orphadata	ORPHA:652
HP:0004363	Abnormal circulating calcium concentration	7428	VHL	-	mim2gene	OMIM:171300
HP:0004363	Abnormal circulating calcium concentration	9247	GCM2		orphadata	ORPHA:2239
HP:0004363	Abnormal circulating calcium concentration	79577	CDC73		orphadata	ORPHA:99880
HP:0004363	Abnormal circulating calcium concentration	1188	CLCNKB		orphadata	ORPHA:358
HP:0004363	Abnormal circulating calcium concentration	8675	STX16	-	mim2gene	OMIM:603233
HP:0004363	Abnormal circulating calcium concentration	1743	DLST		orphadata	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	6899	TBX1		orphadata	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	1312	COMT		orphadata	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	1027	CDKN1B		orphadata	ORPHA:652
HP:0004363	Abnormal circulating calcium concentration	7353	UFD1		orphadata	ORPHA:567
HP:0004363	Abnormal circulating calcium concentration	249	ALPL	-	mim2gene	OMIM:241500
HP:0004363	Abnormal circulating calcium concentration	6390	SDHB		orphadata	ORPHA:29072
HP:0004363	Abnormal circulating calcium concentration	5573	PRKAR1A		orphadata	ORPHA:280651
HP:0004363	Abnormal circulating calcium concentration	79633	FAT4		orphadata	ORPHA:2136
HP:0004363	Abnormal circulating calcium concentration	7421	VDR		orphadata	ORPHA:93160
HP:0004364	Abnormal circulating nitrogen compound concentration	3251	HPRT1		orphadata	ORPHA:79233
HP:0004364	Abnormal circulating nitrogen compound concentration	554	AVPR2	-	mim2gene	OMIM:300539
HP:0004364	Abnormal circulating nitrogen compound concentration	162417	NAGS		orphadata	ORPHA:927
HP:0004364	Abnormal circulating nitrogen compound concentration	3078	CFHR1	susceptibility	mim2gene	OMIM:235400
HP:0004364	Abnormal circulating nitrogen compound concentration	9056	SLC7A7	-	mim2gene	OMIM:222700
HP:0004364	Abnormal circulating nitrogen compound concentration	3030	HADHA	-	mim2gene	OMIM:609015
HP:0004364	Abnormal circulating nitrogen compound concentration	37	ACADVL		orphadata	ORPHA:26793
HP:0004364	Abnormal circulating nitrogen compound concentration	4982	TNFRSF11B		orphadata	ORPHA:2801
HP:0004364	Abnormal circulating nitrogen compound concentration	3155	HMGCL	-	mim2gene	OMIM:246450
HP:0004364	Abnormal circulating nitrogen compound concentration	513	ATP5F1D	-	mim2gene	OMIM:618120
HP:0004364	Abnormal circulating nitrogen compound concentration	4907	NT5E		orphadata	ORPHA:289601
HP:0004364	Abnormal circulating nitrogen compound concentration	7369	UMOD	-	mim2gene	OMIM:603860
HP:0004364	Abnormal circulating nitrogen compound concentration	6928	HNF1B		orphadata	ORPHA:93111
HP:0004364	Abnormal circulating nitrogen compound concentration	10166	SLC25A15	-	mim2gene	OMIM:238970
HP:0004364	Abnormal circulating nitrogen compound concentration	10699	CORIN		orphadata	ORPHA:275555
HP:0004364	Abnormal circulating nitrogen compound concentration	1373	CPS1	-	mim2gene	OMIM:237300
HP:0004364	Abnormal circulating nitrogen compound concentration	2746	GLUD1		orphadata	ORPHA:35878
HP:0004364	Abnormal circulating nitrogen compound concentration	54968	TMEM70	-	mim2gene	OMIM:614052
HP:0004364	Abnormal circulating nitrogen compound concentration	219736	STOX1		orphadata	ORPHA:275555
HP:0004364	Abnormal circulating nitrogen compound concentration	64087	MCCC2	-	mim2gene	OMIM:210210
HP:0004364	Abnormal circulating nitrogen compound concentration	3172	HNF4A	-	mim2gene	OMIM:616026
HP:0004364	Abnormal circulating nitrogen compound concentration	4337	MOCS1	-	mim2gene	OMIM:252150
HP:0004364	Abnormal circulating nitrogen compound concentration	5213	PFKM		orphadata	ORPHA:371
HP:0004364	Abnormal circulating nitrogen compound concentration	56922	MCCC1	-	mim2gene	OMIM:210200
HP:0004364	Abnormal circulating nitrogen compound concentration	5095	PCCA		orphadata	ORPHA:35
HP:0004364	Abnormal circulating nitrogen compound concentration	10165	SLC25A13		orphadata	ORPHA:247585
HP:0004364	Abnormal circulating nitrogen compound concentration	3043	HBB		orphadata	ORPHA:232
HP:0004364	Abnormal circulating nitrogen compound concentration	435	ASL		orphadata	ORPHA:23
HP:0004364	Abnormal circulating nitrogen compound concentration	10166	SLC25A15		orphadata	ORPHA:415
HP:0004364	Abnormal circulating nitrogen compound concentration	1374	CPT1A	-	mim2gene	OMIM:255120
HP:0004364	Abnormal circulating nitrogen compound concentration	1537	CYC1	-	mim2gene	OMIM:615453
HP:0004364	Abnormal circulating nitrogen compound concentration	4982	TNFRSF11B	-	mim2gene	OMIM:239000
HP:0004364	Abnormal circulating nitrogen compound concentration	29927	SEC61A1	-	mim2gene	OMIM:617056
HP:0004364	Abnormal circulating nitrogen compound concentration	2542	SLC37A4	-	mim2gene	OMIM:232220
HP:0004364	Abnormal circulating nitrogen compound concentration	2203	FBP1		orphadata	ORPHA:348
HP:0004364	Abnormal circulating nitrogen compound concentration	6928	HNF1B	-	mim2gene	OMIM:137920
HP:0004364	Abnormal circulating nitrogen compound concentration	166785	MMAA	-	mim2gene	OMIM:251100
HP:0004364	Abnormal circulating nitrogen compound concentration	4594	MMUT		orphadata	ORPHA:79312
HP:0004364	Abnormal circulating nitrogen compound concentration	54968	TMEM70		orphadata	ORPHA:1194
HP:0004364	Abnormal circulating nitrogen compound concentration	57728	WDR19	question	mim2gene	OMIM:614376
HP:0004364	Abnormal circulating nitrogen compound concentration	1621	DBH		orphadata	ORPHA:230
HP:0004364	Abnormal circulating nitrogen compound concentration	788	SLC25A20		orphadata	ORPHA:159
HP:0004364	Abnormal circulating nitrogen compound concentration	2746	GLUD1	-	mim2gene	OMIM:606762
HP:0004364	Abnormal circulating nitrogen compound concentration	3155	HMGCL		orphadata	ORPHA:20
HP:0004364	Abnormal circulating nitrogen compound concentration	5213	PFKM	-	mim2gene	OMIM:232800
HP:0004364	Abnormal circulating nitrogen compound concentration	64087	MCCC2		orphadata	ORPHA:6
HP:0004364	Abnormal circulating nitrogen compound concentration	5468	PPARG	-	mim2gene	OMIM:604367
HP:0004364	Abnormal circulating nitrogen compound concentration	7369	UMOD	-	mim2gene	OMIM:162000
HP:0004364	Abnormal circulating nitrogen compound concentration	28976	ACAD9		orphadata	ORPHA:99901
HP:0004364	Abnormal circulating nitrogen compound concentration	51594	NBAS	-	mim2gene	OMIM:616483
HP:0004364	Abnormal circulating nitrogen compound concentration	763	CA5A	-	mim2gene	OMIM:615751
HP:0004364	Abnormal circulating nitrogen compound concentration	383	ARG1		orphadata	ORPHA:90
HP:0004364	Abnormal circulating nitrogen compound concentration	5972	REN	-	mim2gene	OMIM:613092
HP:0004364	Abnormal circulating nitrogen compound concentration	2538	G6PC	-	mim2gene	OMIM:232200
HP:0004364	Abnormal circulating nitrogen compound concentration	629	CFB	susceptibility	mim2gene	OMIM:612924
HP:0004364	Abnormal circulating nitrogen compound concentration	11093	ADAMTS13	-	mim2gene	OMIM:274150
HP:0004364	Abnormal circulating nitrogen compound concentration	54916	TMEM260	-	mim2gene	OMIM:617478
HP:0004364	Abnormal circulating nitrogen compound concentration	7056	THBD	susceptibility	mim2gene	OMIM:612926
HP:0004364	Abnormal circulating nitrogen compound concentration	56606	SLC2A9	-	mim2gene	OMIM:612076
HP:0004364	Abnormal circulating nitrogen compound concentration	1376	CPT2	-	mim2gene	OMIM:600649
HP:0004364	Abnormal circulating nitrogen compound concentration	4700	NDUFA6	-	mim2gene	OMIM:618253
HP:0004364	Abnormal circulating nitrogen compound concentration	790	CAD	-	mim2gene	OMIM:616457
HP:0004364	Abnormal circulating nitrogen compound concentration	10878	CFHR3	susceptibility	mim2gene	OMIM:235400
HP:0004364	Abnormal circulating nitrogen compound concentration	229	ALDOB	-	mim2gene	OMIM:229600
HP:0004364	Abnormal circulating nitrogen compound concentration	3251	HPRT1	-	mim2gene	OMIM:300322
HP:0004364	Abnormal circulating nitrogen compound concentration	7369	UMOD	-	mim2gene	OMIM:609886
HP:0004364	Abnormal circulating nitrogen compound concentration	4582	MUC1	-	mim2gene	OMIM:174000
HP:0004364	Abnormal circulating nitrogen compound concentration	10243	GPHN	-	mim2gene	OMIM:615501
HP:0004364	Abnormal circulating nitrogen compound concentration	5096	PCCB	-	mim2gene	OMIM:606054
HP:0004364	Abnormal circulating nitrogen compound concentration	326625	MMAB	-	mim2gene	OMIM:251110
HP:0004364	Abnormal circulating nitrogen compound concentration	1376	CPT2	-	mim2gene	OMIM:608836
HP:0004364	Abnormal circulating nitrogen compound concentration	4609	MYC		orphadata	ORPHA:543
HP:0004364	Abnormal circulating nitrogen compound concentration	9056	SLC7A7		orphadata	ORPHA:470
HP:0004364	Abnormal circulating nitrogen compound concentration	229	ALDOB		orphadata	ORPHA:469
HP:0004364	Abnormal circulating nitrogen compound concentration	9971	NR1H4	-	mim2gene	OMIM:617049
HP:0004364	Abnormal circulating nitrogen compound concentration	22909	FAN1	-	mim2gene	OMIM:614817
HP:0004364	Abnormal circulating nitrogen compound concentration	56922	MCCC1		orphadata	ORPHA:6
HP:0004364	Abnormal circulating nitrogen compound concentration	435	ASL	-	mim2gene	OMIM:207900
HP:0004364	Abnormal circulating nitrogen compound concentration	3251	HPRT1	-	mim2gene	OMIM:300323
HP:0004364	Abnormal circulating nitrogen compound concentration	686	BTD	-	mim2gene	OMIM:253260
HP:0004364	Abnormal circulating nitrogen compound concentration	10229	COQ7	question	mim2gene	OMIM:616733
HP:0004364	Abnormal circulating nitrogen compound concentration	10686	CLDN16	-	mim2gene	OMIM:248250
HP:0004364	Abnormal circulating nitrogen compound concentration	2752	GLUL	-	mim2gene	OMIM:610015
HP:0004364	Abnormal circulating nitrogen compound concentration	91647	ATPAF2	question	mim2gene	OMIM:604273
HP:0004364	Abnormal circulating nitrogen compound concentration	84947	SERAC1	-	mim2gene	OMIM:614739
HP:0004364	Abnormal circulating nitrogen compound concentration	25970	SH2B1		orphadata	ORPHA:261222
HP:0004364	Abnormal circulating nitrogen compound concentration	4952	OCRL		orphadata	ORPHA:534
HP:0004364	Abnormal circulating nitrogen compound concentration	3141	HLCS	-	mim2gene	OMIM:253270
HP:0004364	Abnormal circulating nitrogen compound concentration	3033	HADH		orphadata	ORPHA:71212
HP:0004364	Abnormal circulating nitrogen compound concentration	162417	NAGS	-	mim2gene	OMIM:237310
HP:0004364	Abnormal circulating nitrogen compound concentration	128989	TANGO2	-	mim2gene	OMIM:616878
HP:0004364	Abnormal circulating nitrogen compound concentration	5096	PCCB		orphadata	ORPHA:35
HP:0004364	Abnormal circulating nitrogen compound concentration	1285	COL4A3	-	mim2gene	OMIM:104200
HP:0004364	Abnormal circulating nitrogen compound concentration	5311	PKD2	-	mim2gene	OMIM:613095
HP:0004364	Abnormal circulating nitrogen compound concentration	27130	INVS	-	mim2gene	OMIM:602088
HP:0004364	Abnormal circulating nitrogen compound concentration	5009	OTC		orphadata	ORPHA:664
HP:0004364	Abnormal circulating nitrogen compound concentration	5009	OTC	-	mim2gene	OMIM:311250
HP:0004364	Abnormal circulating nitrogen compound concentration	3141	HLCS		orphadata	ORPHA:79242
HP:0004364	Abnormal circulating nitrogen compound concentration	4179	CD46	susceptibility	mim2gene	OMIM:612922
HP:0004364	Abnormal circulating nitrogen compound concentration	1373	CPS1		orphadata	ORPHA:147
HP:0004364	Abnormal circulating nitrogen compound concentration	445	ASS1	-	mim2gene	OMIM:215700
HP:0004364	Abnormal circulating nitrogen compound concentration	7840	ALMS1	-	mim2gene	OMIM:203800
HP:0004364	Abnormal circulating nitrogen compound concentration	7284	TUFM	-	mim2gene	OMIM:610678
HP:0004364	Abnormal circulating nitrogen compound concentration	3426	CFI	susceptibility	mim2gene	OMIM:612923
HP:0004364	Abnormal circulating nitrogen compound concentration	6584	SLC22A5	-	mim2gene	OMIM:212140
HP:0004364	Abnormal circulating nitrogen compound concentration	38	ACAT1		orphadata	ORPHA:134
HP:0004364	Abnormal circulating nitrogen compound concentration	7385	UQCRC2	-	mim2gene	OMIM:615160
HP:0004364	Abnormal circulating nitrogen compound concentration	5631	PRPS1	-	mim2gene	OMIM:300661
HP:0004364	Abnormal circulating nitrogen compound concentration	5261	PHKG2		orphadata	ORPHA:264580
HP:0004364	Abnormal circulating nitrogen compound concentration	4594	MMUT	-	mim2gene	OMIM:251000
HP:0004364	Abnormal circulating nitrogen compound concentration	3075	CFH	susceptibility	mim2gene	OMIM:235400
HP:0004364	Abnormal circulating nitrogen compound concentration	284439	SLC25A42	-	mim2gene	OMIM:618416
HP:0004364	Abnormal circulating nitrogen compound concentration	595	CCND1		orphadata	ORPHA:29073
HP:0004364	Abnormal circulating nitrogen compound concentration	3032	HADHB	-	mim2gene	OMIM:609015
HP:0004364	Abnormal circulating nitrogen compound concentration	8518	ELP1	-	mim2gene	OMIM:223900
HP:0004364	Abnormal circulating nitrogen compound concentration	2542	SLC37A4	-	mim2gene	OMIM:232240
HP:0004364	Abnormal circulating nitrogen compound concentration	5256	PHKA2		orphadata	ORPHA:264580
HP:0004364	Abnormal circulating nitrogen compound concentration	4860	PNP	-	mim2gene	OMIM:613179
HP:0004364	Abnormal circulating nitrogen compound concentration	54938	SARS2	-	mim2gene	OMIM:613845
HP:0004364	Abnormal circulating nitrogen compound concentration	5468	PPARG		orphadata	ORPHA:79083
HP:0004364	Abnormal circulating nitrogen compound concentration	2321	FLT1		orphadata	ORPHA:275555
HP:0004364	Abnormal circulating nitrogen compound concentration	6514	SLC2A2	-	mim2gene	OMIM:227810
HP:0004364	Abnormal circulating nitrogen compound concentration	3251	HPRT1		orphadata	ORPHA:510
HP:0004364	Abnormal circulating nitrogen compound concentration	5095	PCCA	-	mim2gene	OMIM:606054
HP:0004364	Abnormal circulating nitrogen compound concentration	116085	SLC22A12	-	mim2gene	OMIM:220150
HP:0004364	Abnormal circulating nitrogen compound concentration	8792	TNFRSF11A		orphadata	ORPHA:2801
HP:0004364	Abnormal circulating nitrogen compound concentration	33	ACADL		orphadata	ORPHA:99900
HP:0004364	Abnormal circulating nitrogen compound concentration	55034	MOCOS	-	mim2gene	OMIM:603592
HP:0004364	Abnormal circulating nitrogen compound concentration	383	ARG1	-	mim2gene	OMIM:207800
HP:0004364	Abnormal circulating nitrogen compound concentration	10165	SLC25A13	-	mim2gene	OMIM:603471
HP:0004364	Abnormal circulating nitrogen compound concentration	34	ACADM		orphadata	ORPHA:42
HP:0004364	Abnormal circulating nitrogen compound concentration	3172	HNF4A		orphadata	ORPHA:93111
HP:0004364	Abnormal circulating nitrogen compound concentration	10165	SLC25A13		orphadata	ORPHA:247598
HP:0004364	Abnormal circulating nitrogen compound concentration	9451	EIF2AK3		orphadata	ORPHA:1667
HP:0004364	Abnormal circulating nitrogen compound concentration	4594	MMUT		orphadata	ORPHA:289916
HP:0004364	Abnormal circulating nitrogen compound concentration	788	SLC25A20	-	mim2gene	OMIM:212138
HP:0004364	Abnormal circulating nitrogen compound concentration	718	C3	susceptibility	mim2gene	OMIM:612925
HP:0004364	Abnormal circulating nitrogen compound concentration	1738	DLD		orphadata	ORPHA:2394
HP:0004364	Abnormal circulating nitrogen compound concentration	4338	MOCS2	-	mim2gene	OMIM:252160
HP:0004365	Abnormal circulating tryptophan concentration	8942	KYNU		orphadata	ORPHA:79155
HP:0004366	Abnormality of glycolysis	4719	NDUFS1		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	8050	PDHX	-	mim2gene	OMIM:245349
HP:0004366	Abnormality of glycolysis	29078	NDUFAF4		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4728	NDUFS8		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4694	NDUFA1		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	55572	FOXRED1		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	9131	AIFM1	-	mim2gene	OMIM:300816
HP:0004366	Abnormality of glycolysis	115286	SLC25A26	-	mim2gene	OMIM:616794
HP:0004366	Abnormality of glycolysis	4537	ND3		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4709	NDUFB3		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4565	TRNI	-	mim2gene	OMIM:545000
HP:0004366	Abnormality of glycolysis	7385	UQCRC2	-	mim2gene	OMIM:615160
HP:0004366	Abnormality of glycolysis	4535	ND1		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4724	NDUFS4		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4726	NDUFS6		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	5428	POLG		orphadata	ORPHA:94125
HP:0004366	Abnormality of glycolysis	9131	AIFM1		orphadata	ORPHA:238329
HP:0004366	Abnormality of glycolysis	3939	LDHA	-	mim2gene	OMIM:612933
HP:0004366	Abnormality of glycolysis	4571	TRNP	-	mim2gene	OMIM:545000
HP:0004366	Abnormality of glycolysis	50640	PNPLA8	question	mim2gene	OMIM:251950
HP:0004366	Abnormality of glycolysis	55863	TMEM126B		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4567	TRNL1	-	mim2gene	OMIM:545000
HP:0004366	Abnormality of glycolysis	4723	NDUFV1		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4720	NDUFS2		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4700	NDUFA6		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	374291	NDUFS7		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	51103	NDUFAF1		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4715	NDUFB9		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	79133	NDUFAF5		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	5091	PC	-	mim2gene	OMIM:266150
HP:0004366	Abnormality of glycolysis	4566	TRNK		orphadata	ORPHA:1349
HP:0004366	Abnormality of glycolysis	387787	LIPT2	-	mim2gene	OMIM:617668
HP:0004366	Abnormality of glycolysis	51660	MPC1	-	mim2gene	OMIM:614741
HP:0004366	Abnormality of glycolysis	25915	NDUFAF3		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4566	TRNK	-	mim2gene	OMIM:545000
HP:0004366	Abnormality of glycolysis	91942	NDUFAF2		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	39	ACAT2	question	mim2gene	OMIM:614055
HP:0004366	Abnormality of glycolysis	4729	NDUFV2		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	56652	TWNK	-	mim2gene	OMIM:616138
HP:0004366	Abnormality of glycolysis	51300	TIMMDC1		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	54539	NDUFB11		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4536	ND2		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4722	NDUFS3		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	80224	NUBPL		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	4558	TRNF	-	mim2gene	OMIM:545000
HP:0004366	Abnormality of glycolysis	4716	NDUFB10		orphadata	ORPHA:2609
HP:0004366	Abnormality of glycolysis	617	BCS1L	-	mim2gene	OMIM:603358
HP:0004366	Abnormality of glycolysis	126328	NDUFA11		orphadata	ORPHA:2609
HP:0004368	Increased purine level	3251	HPRT1		orphadata	ORPHA:79233
HP:0004368	Increased purine level	7840	ALMS1	-	mim2gene	OMIM:203800
HP:0004368	Increased purine level	4609	MYC		orphadata	ORPHA:543
HP:0004368	Increased purine level	3155	HMGCL		orphadata	ORPHA:20
HP:0004368	Increased purine level	5213	PFKM	-	mim2gene	OMIM:232800
HP:0004368	Increased purine level	4982	TNFRSF11B		orphadata	ORPHA:2801
HP:0004368	Increased purine level	229	ALDOB		orphadata	ORPHA:469
HP:0004368	Increased purine level	3155	HMGCL	-	mim2gene	OMIM:246450
HP:0004368	Increased purine level	38	ACAT1		orphadata	ORPHA:134
HP:0004368	Increased purine level	5468	PPARG	-	mim2gene	OMIM:604367
HP:0004368	Increased purine level	7369	UMOD	-	mim2gene	OMIM:603860
HP:0004368	Increased purine level	7369	UMOD	-	mim2gene	OMIM:162000
HP:0004368	Increased purine level	6928	HNF1B		orphadata	ORPHA:93111
HP:0004368	Increased purine level	5631	PRPS1	-	mim2gene	OMIM:300661
HP:0004368	Increased purine level	5261	PHKG2		orphadata	ORPHA:264580
HP:0004368	Increased purine level	3251	HPRT1	-	mim2gene	OMIM:300323
HP:0004368	Increased purine level	5972	REN	-	mim2gene	OMIM:613092
HP:0004368	Increased purine level	2538	G6PC	-	mim2gene	OMIM:232200
HP:0004368	Increased purine level	10686	CLDN16	-	mim2gene	OMIM:248250
HP:0004368	Increased purine level	2542	SLC37A4	-	mim2gene	OMIM:232240
HP:0004368	Increased purine level	5256	PHKA2		orphadata	ORPHA:264580
HP:0004368	Increased purine level	54938	SARS2	-	mim2gene	OMIM:613845
HP:0004368	Increased purine level	5468	PPARG		orphadata	ORPHA:79083
HP:0004368	Increased purine level	25970	SH2B1		orphadata	ORPHA:261222
HP:0004368	Increased purine level	3251	HPRT1		orphadata	ORPHA:510
HP:0004368	Increased purine level	8792	TNFRSF11A		orphadata	ORPHA:2801
HP:0004368	Increased purine level	5213	PFKM		orphadata	ORPHA:371
HP:0004368	Increased purine level	3172	HNF4A		orphadata	ORPHA:93111
HP:0004368	Increased purine level	229	ALDOB	-	mim2gene	OMIM:229600
HP:0004368	Increased purine level	3251	HPRT1	-	mim2gene	OMIM:300322
HP:0004368	Increased purine level	9451	EIF2AK3		orphadata	ORPHA:1667
HP:0004368	Increased purine level	4982	TNFRSF11B	-	mim2gene	OMIM:239000
HP:0004368	Increased purine level	29927	SEC61A1	-	mim2gene	OMIM:617056
HP:0004368	Increased purine level	7369	UMOD	-	mim2gene	OMIM:609886
HP:0004368	Increased purine level	2542	SLC37A4	-	mim2gene	OMIM:232220
HP:0004368	Increased purine level	2203	FBP1		orphadata	ORPHA:348
HP:0004368	Increased purine level	6928	HNF1B	-	mim2gene	OMIM:137920
HP:0004368	Increased purine level	7498	XDH	-	mim2gene	OMIM:278300
HP:0004368	Increased purine level	4582	MUC1	-	mim2gene	OMIM:174000
HP:0004369	Decreased purine level	56606	SLC2A9	-	mim2gene	OMIM:612076
HP:0004369	Decreased purine level	6514	SLC2A2	-	mim2gene	OMIM:227810
HP:0004369	Decreased purine level	3172	HNF4A	-	mim2gene	OMIM:616026
HP:0004369	Decreased purine level	4337	MOCS1	-	mim2gene	OMIM:252150
HP:0004369	Decreased purine level	116085	SLC22A12	-	mim2gene	OMIM:220150
HP:0004369	Decreased purine level	55034	MOCOS	-	mim2gene	OMIM:603592
HP:0004369	Decreased purine level	4860	PNP	-	mim2gene	OMIM:613179
HP:0004369	Decreased purine level	10243	GPHN	-	mim2gene	OMIM:615501
HP:0004369	Decreased purine level	4338	MOCS2	-	mim2gene	OMIM:252160
HP:0004370	Abnormality of temperature regulation	64419	MTMR14		orphadata	ORPHA:169189
HP:0004370	Abnormality of temperature regulation	2719	GPC3		orphadata	ORPHA:654
HP:0004370	Abnormality of temperature regulation	5903	RANBP2		orphadata	ORPHA:88619
HP:0004370	Abnormality of temperature regulation	4792	NFKBIA	-	mim2gene	OMIM:612132
HP:0004370	Abnormality of temperature regulation	4540	ND5		orphadata	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	330	BIRC3		orphadata	ORPHA:52417
HP:0004370	Abnormality of temperature regulation	23765	IL17RA		orphadata	ORPHA:1334
HP:0004370	Abnormality of temperature regulation	4287	ATXN3		orphadata	ORPHA:276244
HP:0004370	Abnormality of temperature regulation	5860	QDPR	-	mim2gene	OMIM:261630
HP:0004370	Abnormality of temperature regulation	3717	JAK2		orphadata	ORPHA:824
HP:0004370	Abnormality of temperature regulation	114548	NLRP3		orphadata	ORPHA:575
HP:0004370	Abnormality of temperature regulation	675	BRCA2		orphadata	ORPHA:654
HP:0004370	Abnormality of temperature regulation	54790	TET2		orphadata	ORPHA:86839
HP:0004370	Abnormality of temperature regulation	165918	RNF168		orphadata	ORPHA:420741
HP:0004370	Abnormality of temperature regulation	11277	TREX1		orphadata	ORPHA:51
HP:0004370	Abnormality of temperature regulation	1080	CFTR	susceptibility	mim2gene	OMIM:167800
HP:0004370	Abnormality of temperature regulation	7681	MKRN3	-	mim2gene	OMIM:176270
HP:0004370	Abnormality of temperature regulation	4621	MYH3		orphadata	ORPHA:2053
HP:0004370	Abnormality of temperature regulation	429	ASCL1	-	mim2gene	OMIM:209880
HP:0004370	Abnormality of temperature regulation	2668	GDNF	-	mim2gene	OMIM:209880
HP:0004370	Abnormality of temperature regulation	359948	IRF2BP2		orphadata	ORPHA:520
HP:0004370	Abnormality of temperature regulation	3155	HMGCL		orphadata	ORPHA:20
HP:0004370	Abnormality of temperature regulation	7490	WT1		orphadata	ORPHA:654
HP:0004370	Abnormality of temperature regulation	2035	EPB41		orphadata	ORPHA:288
HP:0004370	Abnormality of temperature regulation	3709	ITPR2	question	mim2gene	OMIM:106190
HP:0004370	Abnormality of temperature regulation	11277	TREX1	-	mim2gene	OMIM:225750
HP:0004370	Abnormality of temperature regulation	2072	ERCC4		orphadata	ORPHA:910
HP:0004370	Abnormality of temperature regulation	9244	CRLF1	-	mim2gene	OMIM:272430
HP:0004370	Abnormality of temperature regulation	3459	IFNGR1	-	mim2gene	OMIM:209950
HP:0004370	Abnormality of temperature regulation	64127	NOD2	susceptibility	mim2gene	OMIM:617321
HP:0004370	Abnormality of temperature regulation	4536	ND2		orphadata	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	7128	TNFAIP3	-	mim2gene	OMIM:616744
HP:0004370	Abnormality of temperature regulation	3074	HEXB	-	mim2gene	OMIM:268800
HP:0004370	Abnormality of temperature regulation	1621	DBH	-	mim2gene	OMIM:223360
HP:0004370	Abnormality of temperature regulation	2639	GCDH		orphadata	ORPHA:25
HP:0004370	Abnormality of temperature regulation	1908	EDN3	-	mim2gene	OMIM:209880
HP:0004370	Abnormality of temperature regulation	1644	DDC	-	mim2gene	OMIM:608643
HP:0004370	Abnormality of temperature regulation	3593	IL12B		orphadata	ORPHA:3287
HP:0004370	Abnormality of temperature regulation	11200	CHEK2		orphadata	ORPHA:668
HP:0004370	Abnormality of temperature regulation	6556	SLC11A1		orphadata	ORPHA:3389
HP:0004370	Abnormality of temperature regulation	246329	STAC3		orphadata	ORPHA:168572
HP:0004370	Abnormality of temperature regulation	10155	TRIM28		orphadata	ORPHA:654
HP:0004370	Abnormality of temperature regulation	3106	HLA-B		orphadata	ORPHA:3287
HP:0004370	Abnormality of temperature regulation	4558	TRNF		orphadata	ORPHA:550
HP:0004370	Abnormality of temperature regulation	11281	POU6F2		orphadata	ORPHA:654
HP:0004370	Abnormality of temperature regulation	128178	EDARADD		orphadata	ORPHA:1810
HP:0004370	Abnormality of temperature regulation	79718	TBL1XR1		orphadata	ORPHA:520
HP:0004370	Abnormality of temperature regulation	1144	CHRND	-	mim2gene	OMIM:253290
HP:0004370	Abnormality of temperature regulation	81608	FIP1L1		orphadata	ORPHA:520
HP:0004370	Abnormality of temperature regulation	6708	SPTA1		orphadata	ORPHA:288
HP:0004370	Abnormality of temperature regulation	811	CALR	-	mim2gene	OMIM:254450
HP:0004370	Abnormality of temperature regulation	85358	SHANK3	-	mim2gene	OMIM:606232
HP:0004370	Abnormality of temperature regulation	83696	TRAPPC9		orphadata	ORPHA:352530
HP:0004370	Abnormality of temperature regulation	54880	BCOR		orphadata	ORPHA:520
HP:0004370	Abnormality of temperature regulation	3115	HLA-DPB1		orphadata	ORPHA:900
HP:0004370	Abnormality of temperature regulation	5644	PRSS1		orphadata	ORPHA:64740
HP:0004370	Abnormality of temperature regulation	613	BCR		orphadata	ORPHA:521
HP:0004370	Abnormality of temperature regulation	4210	MEFV		orphadata	ORPHA:342
HP:0004370	Abnormality of temperature regulation	64135	IFIH1		orphadata	ORPHA:51
HP:0004370	Abnormality of temperature regulation	7157	TP53		orphadata	ORPHA:668
HP:0004370	Abnormality of temperature regulation	3586	IL10		orphadata	ORPHA:117
HP:0004370	Abnormality of temperature regulation	4914	NTRK1	-	mim2gene	OMIM:256800
HP:0004370	Abnormality of temperature regulation	8676	STX11	-	mim2gene	OMIM:603552
HP:0004370	Abnormality of temperature regulation	1146	CHRNG	-	mim2gene	OMIM:253290
HP:0004370	Abnormality of temperature regulation	5979	RET	-	mim2gene	OMIM:209880
HP:0004370	Abnormality of temperature regulation	6261	RYR1	-	mim2gene	OMIM:145600
HP:0004370	Abnormality of temperature regulation	85446	ZFHX2	question	mim2gene	OMIM:147430
HP:0004370	Abnormality of temperature regulation	538	ATP7A	-	mim2gene	OMIM:309400
HP:0004370	Abnormality of temperature regulation	4854	NOTCH3		orphadata	ORPHA:136
HP:0004370	Abnormality of temperature regulation	30011	SH3KBP1	question	mim2gene	OMIM:300310
HP:0004370	Abnormality of temperature regulation	338433	SNORD115-1	-	mim2gene	OMIM:176270
HP:0004370	Abnormality of temperature regulation	101928376	IL12A-AS1		orphadata	ORPHA:117
HP:0004370	Abnormality of temperature regulation	3339	HSPG2	-	mim2gene	OMIM:255800
HP:0004370	Abnormality of temperature regulation	64859	NABP1		orphadata	ORPHA:520
HP:0004370	Abnormality of temperature regulation	811	CALR		orphadata	ORPHA:824
HP:0004370	Abnormality of temperature regulation	5897	RAG2		orphadata	ORPHA:331206
HP:0004370	Abnormality of temperature regulation	7248	TSC1		orphadata	ORPHA:538
HP:0004370	Abnormality of temperature regulation	2581	GALC	-	mim2gene	OMIM:245200
HP:0004370	Abnormality of temperature regulation	4485	MST1		orphadata	ORPHA:171
HP:0004370	Abnormality of temperature regulation	3075	CFH	susceptibility	mim2gene	OMIM:235400
HP:0004370	Abnormality of temperature regulation	3561	IL2RG		orphadata	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	359	AQP2	-	mim2gene	OMIM:125800
HP:0004370	Abnormality of temperature regulation	10913	EDAR	-	mim2gene	OMIM:129490
HP:0004370	Abnormality of temperature regulation	861	RUNX1		orphadata	ORPHA:521
HP:0004370	Abnormality of temperature regulation	4926	NUMA1		orphadata	ORPHA:520
HP:0004370	Abnormality of temperature regulation	6710	SPTB		orphadata	ORPHA:822
HP:0004370	Abnormality of temperature regulation	58484	NLRC4	question	mim2gene	OMIM:616115
HP:0004370	Abnormality of temperature regulation	916	CD3E		orphadata	ORPHA:169160
HP:0004370	Abnormality of temperature regulation	6929	TCF3		orphadata	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	55315	SLC29A3		orphadata	ORPHA:168569
HP:0004370	Abnormality of temperature regulation	4540	ND5		orphadata	ORPHA:550
HP:0004370	Abnormality of temperature regulation	1991	ELANE	-	mim2gene	OMIM:162800
HP:0004370	Abnormality of temperature regulation	551	AVP		orphadata	ORPHA:30925
HP:0004370	Abnormality of temperature regulation	6329	SCN4A		orphadata	ORPHA:682
HP:0004370	Abnormality of temperature regulation	64581	CLEC7A		orphadata	ORPHA:1334
HP:0004370	Abnormality of temperature regulation	8924	HERC2	-	mim2gene	OMIM:176270
HP:0004370	Abnormality of temperature regulation	3977	LIFR		orphadata	ORPHA:3206
HP:0004370	Abnormality of temperature regulation	6710	SPTB		orphadata	ORPHA:288
HP:0004370	Abnormality of temperature regulation	919	CD247		orphadata	ORPHA:169160
HP:0004370	Abnormality of temperature regulation	5978	REST		orphadata	ORPHA:654
HP:0004370	Abnormality of temperature regulation	6708	SPTA1		orphadata	ORPHA:822
HP:0004370	Abnormality of temperature regulation	7132	TNFRSF1A	-	mim2gene	OMIM:142680
HP:0004370	Abnormality of temperature regulation	29760	BLNK		orphadata	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	3492	IGH		orphadata	ORPHA:545
HP:0004370	Abnormality of temperature regulation	27086	FOXP1		orphadata	ORPHA:52417
HP:0004370	Abnormality of temperature regulation	2995	GYPC		orphadata	ORPHA:288
HP:0004370	Abnormality of temperature regulation	114548	NLRP3	-	mim2gene	OMIM:607115
HP:0004370	Abnormality of temperature regulation	4564	TRNH		orphadata	ORPHA:550
HP:0004370	Abnormality of temperature regulation	6331	SCN5A	susceptibility	mim2gene	OMIM:272120
HP:0004370	Abnormality of temperature regulation	974	CD79B		orphadata	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	126695	KDF1		orphadata	ORPHA:1810
HP:0004370	Abnormality of temperature regulation	3350	HTR1A	-	mim2gene	OMIM:614674
HP:0004370	Abnormality of temperature regulation	51371	POMP	-	mim2gene	OMIM:618048
HP:0004370	Abnormality of temperature regulation	23742	NPAP1	-	mim2gene	OMIM:176270
HP:0004370	Abnormality of temperature regulation	7849	PAX8	-	mim2gene	OMIM:218700
HP:0004370	Abnormality of temperature regulation	6729	SRP54		orphadata	ORPHA:486
HP:0004370	Abnormality of temperature regulation	7157	TP53		orphadata	ORPHA:668
HP:0004370	Abnormality of temperature regulation	4567	TRNL1		orphadata	ORPHA:550
HP:0004370	Abnormality of temperature regulation	6778	STAT6		orphadata	ORPHA:2126
HP:0004370	Abnormality of temperature regulation	4538	ND4		orphadata	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	55768	NGLY1	-	mim2gene	OMIM:615273
HP:0004370	Abnormality of temperature regulation	54681	P4HTM	-	mim2gene	OMIM:618493
HP:0004370	Abnormality of temperature regulation	10019	SH2B3	-	mim2gene	OMIM:254450
HP:0004370	Abnormality of temperature regulation	57410	SCYL1		orphadata	ORPHA:466794
HP:0004370	Abnormality of temperature regulation	4282	MIF		orphadata	ORPHA:85414
HP:0004370	Abnormality of temperature regulation	715	C1R		orphadata	ORPHA:93552
HP:0004370	Abnormality of temperature regulation	1621	DBH		orphadata	ORPHA:230
HP:0004370	Abnormality of temperature regulation	11128	POLR3A		orphadata	ORPHA:3455
HP:0004370	Abnormality of temperature regulation	114548	NLRP3		orphadata	ORPHA:1451
HP:0004370	Abnormality of temperature regulation	2624	GATA2		orphadata	ORPHA:3226
HP:0004370	Abnormality of temperature regulation	29887	SNX10		orphadata	ORPHA:667
HP:0004370	Abnormality of temperature regulation	472	ATM		orphadata	ORPHA:52416
HP:0004370	Abnormality of temperature regulation	11093	ADAMTS13	-	mim2gene	OMIM:274150
HP:0004370	Abnormality of temperature regulation	91662	NLRP12	-	mim2gene	OMIM:611762
HP:0004370	Abnormality of temperature regulation	3875	KRT18	-	mim2gene	OMIM:215600
HP:0004370	Abnormality of temperature regulation	6696	SPP1		orphadata	ORPHA:93552
HP:0004370	Abnormality of temperature regulation	4574	TRNS1		orphadata	ORPHA:550
HP:0004370	Abnormality of temperature regulation	6336	SCN10A		orphadata	ORPHA:90026
HP:0004370	Abnormality of temperature regulation	3575	IL7R		orphadata	ORPHA:169154
HP:0004370	Abnormality of temperature regulation	4869	NPM1		orphadata	ORPHA:520
HP:0004370	Abnormality of temperature regulation	4621	MYH3	-	mim2gene	OMIM:193700
HP:0004370	Abnormality of temperature regulation	5573	PRKAR1A		orphadata	ORPHA:615
HP:0004370	Abnormality of temperature regulation	3717	JAK2	-	mim2gene	OMIM:254450
HP:0004370	Abnormality of temperature regulation	55975	KLHL7	-	mim2gene	OMIM:617055
HP:0004370	Abnormality of temperature regulation	4352	MPL		orphadata	ORPHA:824
HP:0004370	Abnormality of temperature regulation	84868	HAVCR2		orphadata	ORPHA:86884
HP:0004370	Abnormality of temperature regulation	10155	TRIM28		orphadata	ORPHA:654
HP:0004370	Abnormality of temperature regulation	114548	NLRP3	-	mim2gene	OMIM:617772
HP:0004370	Abnormality of temperature regulation	5692	PSMB4	question	mim2gene	OMIM:617591
HP:0004370	Abnormality of temperature regulation	7490	WT1		orphadata	ORPHA:654
HP:0004370	Abnormality of temperature regulation	26191	PTPN22		orphadata	ORPHA:900
HP:0004370	Abnormality of temperature regulation	3339	HSPG2		orphadata	ORPHA:800
HP:0004370	Abnormality of temperature regulation	3758	KCNJ1	-	mim2gene	OMIM:241200
HP:0004370	Abnormality of temperature regulation	4692	NDN	-	mim2gene	OMIM:176270
HP:0004370	Abnormality of temperature regulation	4512	COX1		orphadata	ORPHA:550
HP:0004370	Abnormality of temperature regulation	246329	STAC3	-	mim2gene	OMIM:255995
HP:0004370	Abnormality of temperature regulation	9071	CLDN10	-	mim2gene	OMIM:617671
HP:0004370	Abnormality of temperature regulation	1080	CFTR		orphadata	ORPHA:64740
HP:0004370	Abnormality of temperature regulation	939	CD27	-	mim2gene	OMIM:615122
HP:0004370	Abnormality of temperature regulation	10913	EDAR		orphadata	ORPHA:1810
HP:0004370	Abnormality of temperature regulation	6335	SCN9A		orphadata	ORPHA:90026
HP:0004370	Abnormality of temperature regulation	9663	LPIN2		orphadata	ORPHA:77297
HP:0004370	Abnormality of temperature regulation	4578	TRNW		orphadata	ORPHA:550
HP:0004370	Abnormality of temperature regulation	3123	HLA-DRB1	susceptibility	mim2gene	OMIM:181000
HP:0004370	Abnormality of temperature regulation	4514	COX3		orphadata	ORPHA:550
HP:0004370	Abnormality of temperature regulation	6557	SLC12A1	-	mim2gene	OMIM:601678
HP:0004370	Abnormality of temperature regulation	201294	UNC13D	-	mim2gene	OMIM:608898
HP:0004370	Abnormality of temperature regulation	11280	SCN11A		orphadata	ORPHA:90026
HP:0004370	Abnormality of temperature regulation	478	ATP1A3	-	mim2gene	OMIM:128235
HP:0004370	Abnormality of temperature regulation	712	C1QA		orphadata	ORPHA:93552
HP:0004370	Abnormality of temperature regulation	7249	TSC2		orphadata	ORPHA:538
HP:0004370	Abnormality of temperature regulation	10535	RNASEH2A		orphadata	ORPHA:51
HP:0004370	Abnormality of temperature regulation	8302	KLRC4		orphadata	ORPHA:117
HP:0004370	Abnormality of temperature regulation	6338	SCNN1B		orphadata	ORPHA:60033
HP:0004370	Abnormality of temperature regulation	695	BTK		orphadata	ORPHA:47
HP:0004370	Abnormality of temperature regulation	3106	HLA-B		orphadata	ORPHA:117
HP:0004370	Abnormality of temperature regulation	4513	COX2		orphadata	ORPHA:550
HP:0004370	Abnormality of temperature regulation	1080	CFTR		orphadata	ORPHA:60033
HP:0004370	Abnormality of temperature regulation	2038	EPB42		orphadata	ORPHA:822
HP:0004370	Abnormality of temperature regulation	1991	ELANE		orphadata	ORPHA:486
HP:0004370	Abnormality of temperature regulation	667	DST	question	mim2gene	OMIM:614653
HP:0004370	Abnormality of temperature regulation	56244	BTNL2		orphadata	ORPHA:797
HP:0004370	Abnormality of temperature regulation	22861	NLRP1	-	mim2gene	OMIM:617388
HP:0004370	Abnormality of temperature regulation	7054	TH		orphadata	ORPHA:101150
HP:0004370	Abnormality of temperature regulation	58484	NLRC4		orphadata	ORPHA:1451
HP:0004370	Abnormality of temperature regulation	5925	RB1		orphadata	ORPHA:668
HP:0004370	Abnormality of temperature regulation	2717	GLA		orphadata	ORPHA:324
HP:0004370	Abnormality of temperature regulation	6774	STAT3		orphadata	ORPHA:2314
HP:0004370	Abnormality of temperature regulation	100	ADA		orphadata	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	7704	ZBTB16		orphadata	ORPHA:520
HP:0004370	Abnormality of temperature regulation	6786	STIM1	-	mim2gene	OMIM:612783
HP:0004370	Abnormality of temperature regulation	4508	ATP6		orphadata	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	11330	CTRC		orphadata	ORPHA:64740
HP:0004370	Abnormality of temperature regulation	2071	ERCC3		orphadata	ORPHA:910
HP:0004370	Abnormality of temperature regulation	5657	PRTN3		orphadata	ORPHA:900
HP:0004370	Abnormality of temperature regulation	773	CACNA1A	-	mim2gene	OMIM:141500
HP:0004370	Abnormality of temperature regulation	6023	RMRP		orphadata	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	6690	SPINK1		orphadata	ORPHA:64740
HP:0004370	Abnormality of temperature regulation	286	ANK1		orphadata	ORPHA:822
HP:0004370	Abnormality of temperature regulation	6777	STAT5B		orphadata	ORPHA:520
HP:0004370	Abnormality of temperature regulation	114548	NLRP3	-	mim2gene	OMIM:191900
HP:0004370	Abnormality of temperature regulation	100033413	SNORD116-1	-	mim2gene	OMIM:176270
HP:0004370	Abnormality of temperature regulation	8915	BCL10		orphadata	ORPHA:52417
HP:0004370	Abnormality of temperature regulation	6261	RYR1		orphadata	ORPHA:597
HP:0004370	Abnormality of temperature regulation	1230	CCR1		orphadata	ORPHA:117
HP:0004370	Abnormality of temperature regulation	204	AK2		orphadata	ORPHA:33355
HP:0004370	Abnormality of temperature regulation	4578	TRNW		orphadata	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	144811	LACC1		orphadata	ORPHA:85414
HP:0004370	Abnormality of temperature regulation	5645	PRSS2	susceptibility	mim2gene	OMIM:167800
HP:0004370	Abnormality of temperature regulation	4541	ND6		orphadata	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	3981	LIG4		orphadata	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	5376	PMP22		orphadata	ORPHA:98916
HP:0004370	Abnormality of temperature regulation	10312	TCIRG1		orphadata	ORPHA:486
HP:0004370	Abnormality of temperature regulation	4577	TRNV		orphadata	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4538	ND4		orphadata	ORPHA:550
HP:0004370	Abnormality of temperature regulation	2068	ERCC2		orphadata	ORPHA:910
HP:0004370	Abnormality of temperature regulation	1589	CYP21A2	-	mim2gene	OMIM:201910
HP:0004370	Abnormality of temperature regulation	7456	WIPF1		orphadata	ORPHA:906
HP:0004370	Abnormality of temperature regulation	3988	LIPA		orphadata	ORPHA:75233
HP:0004370	Abnormality of temperature regulation	8892	EIF2B2	-	mim2gene	OMIM:603896
HP:0004370	Abnormality of temperature regulation	6813	STXBP2	-	mim2gene	OMIM:613101
HP:0004370	Abnormality of temperature regulation	5605	MAP2K2	-	mim2gene	OMIM:615280
HP:0004370	Abnormality of temperature regulation	3106	HLA-B		orphadata	ORPHA:36426
HP:0004370	Abnormality of temperature regulation	359	AQP2		orphadata	ORPHA:223
HP:0004370	Abnormality of temperature regulation	84818	IL17RC		orphadata	ORPHA:1334
HP:0004370	Abnormality of temperature regulation	200205	IBA57	-	mim2gene	OMIM:615330
HP:0004370	Abnormality of temperature regulation	4572	TRNQ		orphadata	ORPHA:550
HP:0004370	Abnormality of temperature regulation	788	SLC25A20		orphadata	ORPHA:159
HP:0004370	Abnormality of temperature regulation	112744	IL17F		orphadata	ORPHA:1334
HP:0004370	Abnormality of temperature regulation	6775	STAT4		orphadata	ORPHA:93552
HP:0004370	Abnormality of temperature regulation	4210	MEFV	-	mim2gene	OMIM:249100
HP:0004370	Abnormality of temperature regulation	9244	CRLF1		orphadata	ORPHA:1545
HP:0004370	Abnormality of temperature regulation	5371	PML		orphadata	ORPHA:520
HP:0004370	Abnormality of temperature regulation	5805	PTS	-	mim2gene	OMIM:261640
HP:0004370	Abnormality of temperature regulation	779	CACNA1S		orphadata	ORPHA:423
HP:0004370	Abnormality of temperature regulation	26154	ABCA12		orphadata	ORPHA:457
HP:0004370	Abnormality of temperature regulation	2643	GCH1	-	mim2gene	OMIM:233910
HP:0004370	Abnormality of temperature regulation	2539	G6PD	-	mim2gene	OMIM:300908
HP:0004370	Abnormality of temperature regulation	1785	DNM2		orphadata	ORPHA:169189
HP:0004370	Abnormality of temperature regulation	3123	HLA-DRB1		orphadata	ORPHA:85414
HP:0004370	Abnormality of temperature regulation	2672	GFI1		orphadata	ORPHA:486
HP:0004370	Abnormality of temperature regulation	5190	PEX6	-	mim2gene	OMIM:614863
HP:0004370	Abnormality of temperature regulation	54790	TET2		orphadata	ORPHA:824
HP:0004370	Abnormality of temperature regulation	55315	SLC29A3	-	mim2gene	OMIM:602782
HP:0004370	Abnormality of temperature regulation	5914	RARA		orphadata	ORPHA:520
HP:0004370	Abnormality of temperature regulation	440138	ALG11		orphadata	ORPHA:280071
HP:0004370	Abnormality of temperature regulation	5373	PMM2		orphadata	ORPHA:79318
HP:0004370	Abnormality of temperature regulation	1244	ABCC2		orphadata	ORPHA:234
HP:0004370	Abnormality of temperature regulation	791114	PWRN1	-	mim2gene	OMIM:176270
HP:0004370	Abnormality of temperature regulation	58484	NLRC4		orphadata	ORPHA:47045
HP:0004370	Abnormality of temperature regulation	2859	GPR35		orphadata	ORPHA:171
HP:0004370	Abnormality of temperature regulation	79415	CYBC1		orphadata	ORPHA:379
HP:0004370	Abnormality of temperature regulation	3113	HLA-DPA1		orphadata	ORPHA:900
HP:0004370	Abnormality of temperature regulation	1134	CHRNA1	-	mim2gene	OMIM:253290
HP:0004370	Abnormality of temperature regulation	4615	MYD88		orphadata	ORPHA:33226
HP:0004370	Abnormality of temperature regulation	8929	PHOX2B	-	mim2gene	OMIM:209880
HP:0004370	Abnormality of temperature regulation	1186	CLCN7		orphadata	ORPHA:667
HP:0004370	Abnormality of temperature regulation	23529	CLCF1		orphadata	ORPHA:1545
HP:0004370	Abnormality of temperature regulation	1967	EIF2B1	-	mim2gene	OMIM:603896
HP:0004370	Abnormality of temperature regulation	596	BCL2		orphadata	ORPHA:545
HP:0004370	Abnormality of temperature regulation	8891	EIF2B3	-	mim2gene	OMIM:603896
HP:0004370	Abnormality of temperature regulation	1585	CYP11B2	-	mim2gene	OMIM:203400
HP:0004370	Abnormality of temperature regulation	1277	COL1A1		orphadata	ORPHA:1310
HP:0004370	Abnormality of temperature regulation	4287	ATXN3		orphadata	ORPHA:276241
HP:0004370	Abnormality of temperature regulation	7132	TNFRSF1A		orphadata	ORPHA:32960
HP:0004370	Abnormality of temperature regulation	4615	MYD88		orphadata	ORPHA:183713
HP:0004370	Abnormality of temperature regulation	84876	ORAI1	-	mim2gene	OMIM:612782
HP:0004370	Abnormality of temperature regulation	125988	MICOS13	-	mim2gene	OMIM:618329
HP:0004370	Abnormality of temperature regulation	25	ABL1		orphadata	ORPHA:521
HP:0004370	Abnormality of temperature regulation	3930	LBR		orphadata	ORPHA:779
HP:0004370	Abnormality of temperature regulation	3507	IGHM		orphadata	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	129563	DIS3L2		orphadata	ORPHA:654
HP:0004370	Abnormality of temperature regulation	10758	TRAF3IP2		orphadata	ORPHA:1334
HP:0004370	Abnormality of temperature regulation	259232	NALCN		orphadata	ORPHA:2053
HP:0004370	Abnormality of temperature regulation	23175	LPIN1	-	mim2gene	OMIM:268200
HP:0004370	Abnormality of temperature regulation	38	ACAT1		orphadata	ORPHA:134
HP:0004370	Abnormality of temperature regulation	8573	CASK	-	mim2gene	OMIM:300908
HP:0004370	Abnormality of temperature regulation	80704	SLC19A3	-	mim2gene	OMIM:607483
HP:0004370	Abnormality of temperature regulation	3592	IL12A		orphadata	ORPHA:117
HP:0004370	Abnormality of temperature regulation	5696	PSMB8		orphadata	ORPHA:2615
HP:0004370	Abnormality of temperature regulation	6571	SLC18A2	question	mim2gene	OMIM:618049
HP:0004370	Abnormality of temperature regulation	149233	IL23R		orphadata	ORPHA:117
HP:0004370	Abnormality of temperature regulation	7259	TSPYL1		orphadata	ORPHA:168593
HP:0004370	Abnormality of temperature regulation	3569	IL6		orphadata	ORPHA:85414
HP:0004370	Abnormality of temperature regulation	1585	CYP11B2		orphadata	ORPHA:427
HP:0004370	Abnormality of temperature regulation	4541	ND6		orphadata	ORPHA:550
HP:0004370	Abnormality of temperature regulation	8518	ELP1	-	mim2gene	OMIM:223900
HP:0004370	Abnormality of temperature regulation	33	ACADL		orphadata	ORPHA:99900
HP:0004370	Abnormality of temperature regulation	55858	TMEM165	-	mim2gene	OMIM:614727
HP:0004370	Abnormality of temperature regulation	36	ACADSB	-	mim2gene	OMIM:610006
HP:0004370	Abnormality of temperature regulation	23400	ATP13A2		orphadata	ORPHA:306674
HP:0004370	Abnormality of temperature regulation	51360	MBTPS2		orphadata	ORPHA:2273
HP:0004370	Abnormality of temperature regulation	440138	ALG11	-	mim2gene	OMIM:613661
HP:0004370	Abnormality of temperature regulation	249	ALPL	-	mim2gene	OMIM:241500
HP:0004370	Abnormality of temperature regulation	6774	STAT3		orphadata	ORPHA:520
HP:0004370	Abnormality of temperature regulation	538	ATP7A		orphadata	ORPHA:198
HP:0004370	Abnormality of temperature regulation	6638	SNRPN	-	mim2gene	OMIM:176270
HP:0004370	Abnormality of temperature regulation	3977	LIFR	-	mim2gene	OMIM:601559
HP:0004370	Abnormality of temperature regulation	3078	CFHR1	susceptibility	mim2gene	OMIM:235400
HP:0004370	Abnormality of temperature regulation	8893	EIF2B5	-	mim2gene	OMIM:603896
HP:0004370	Abnormality of temperature regulation	37	ACADVL		orphadata	ORPHA:26793
HP:0004370	Abnormality of temperature regulation	3155	HMGCL	-	mim2gene	OMIM:246450
HP:0004370	Abnormality of temperature regulation	8600	TNFSF11		orphadata	ORPHA:667
HP:0004370	Abnormality of temperature regulation	1376	CPT2	susceptibility	mim2gene	OMIM:614212
HP:0004370	Abnormality of temperature regulation	1536	CYBB		orphadata	ORPHA:379
HP:0004370	Abnormality of temperature regulation	2153	F5		orphadata	ORPHA:131
HP:0004370	Abnormality of temperature regulation	26191	PTPN22		orphadata	ORPHA:397
HP:0004370	Abnormality of temperature regulation	9319	TRIP13		orphadata	ORPHA:654
HP:0004370	Abnormality of temperature regulation	538	ATP7A		orphadata	ORPHA:565
HP:0004370	Abnormality of temperature regulation	2548	GAA	-	mim2gene	OMIM:232300
HP:0004370	Abnormality of temperature regulation	1535	CYBA		orphadata	ORPHA:379
HP:0004370	Abnormality of temperature regulation	6261	RYR1		orphadata	ORPHA:423
HP:0004370	Abnormality of temperature regulation	5896	RAG1		orphadata	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	3717	JAK2		orphadata	ORPHA:131
HP:0004370	Abnormality of temperature regulation	5698	PSMB9	question	mim2gene	OMIM:617591
HP:0004370	Abnormality of temperature regulation	653361	NCF1		orphadata	ORPHA:379
HP:0004370	Abnormality of temperature regulation	6261	RYR1	-	mim2gene	OMIM:117000
HP:0004370	Abnormality of temperature regulation	10599	SLCO1B1		orphadata	ORPHA:3111
HP:0004370	Abnormality of temperature regulation	4537	ND3		orphadata	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	3653	IPW	-	mim2gene	OMIM:176270
HP:0004370	Abnormality of temperature regulation	9663	LPIN2	-	mim2gene	OMIM:609628
HP:0004370	Abnormality of temperature regulation	5896	RAG1		orphadata	ORPHA:331206
HP:0004370	Abnormality of temperature regulation	8890	EIF2B4	-	mim2gene	OMIM:603896
HP:0004370	Abnormality of temperature regulation	6261	RYR1		orphadata	ORPHA:169189
HP:0004370	Abnormality of temperature regulation	58484	NLRC4	-	mim2gene	OMIM:616050
HP:0004370	Abnormality of temperature regulation	3394	IRF8	-	mim2gene	OMIM:226990
HP:0004370	Abnormality of temperature regulation	51752	ERAP1		orphadata	ORPHA:117
HP:0004370	Abnormality of temperature regulation	5621	PRNP	-	mim2gene	OMIM:600072
HP:0004370	Abnormality of temperature regulation	1130	LYST		orphadata	ORPHA:167
HP:0004370	Abnormality of temperature regulation	477	ATP1A2	-	mim2gene	OMIM:602481
HP:0004370	Abnormality of temperature regulation	23095	KIF1B	susceptibility	mim2gene	OMIM:256700
HP:0004370	Abnormality of temperature regulation	84868	HAVCR2	-	mim2gene	OMIM:618398
HP:0004370	Abnormality of temperature regulation	915	CD3D		orphadata	ORPHA:169160
HP:0004370	Abnormality of temperature regulation	6690	SPINK1	-	mim2gene	OMIM:167800
HP:0004370	Abnormality of temperature regulation	4352	MPL	-	mim2gene	OMIM:254450
HP:0004370	Abnormality of temperature regulation	6261	RYR1		orphadata	ORPHA:424107
HP:0004370	Abnormality of temperature regulation	3492	IGH		orphadata	ORPHA:52416
HP:0004370	Abnormality of temperature regulation	10913	EDAR	-	mim2gene	OMIM:224900
HP:0004370	Abnormality of temperature regulation	4287	ATXN3		orphadata	ORPHA:276238
HP:0004370	Abnormality of temperature regulation	64421	DCLRE1C		orphadata	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	56262	LRRC8A		orphadata	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	274	BIN1		orphadata	ORPHA:169189
HP:0004370	Abnormality of temperature regulation	4575	TRNS2		orphadata	ORPHA:550
HP:0004370	Abnormality of temperature regulation	3575	IL7R		orphadata	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	604	BCL6		orphadata	ORPHA:545
HP:0004370	Abnormality of temperature regulation	64127	NOD2		orphadata	ORPHA:90340
HP:0004370	Abnormality of temperature regulation	6926	TBX3		orphadata	ORPHA:3138
HP:0004370	Abnormality of temperature regulation	4803	NGF	-	mim2gene	OMIM:608654
HP:0004370	Abnormality of temperature regulation	3561	IL2RG		orphadata	ORPHA:276
HP:0004370	Abnormality of temperature regulation	5573	PRKAR1A		orphadata	ORPHA:520
HP:0004370	Abnormality of temperature regulation	3543	IGLL1		orphadata	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	9051	PSTPIP1		orphadata	ORPHA:69126
HP:0004370	Abnormality of temperature regulation	114548	NLRP3	-	mim2gene	OMIM:120100
HP:0004370	Abnormality of temperature regulation	1493	CTLA4		orphadata	ORPHA:900
HP:0004370	Abnormality of temperature regulation	973	CD79A		orphadata	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	6521	SLC4A1		orphadata	ORPHA:822
HP:0004370	Abnormality of temperature regulation	554	AVPR2	-	mim2gene	OMIM:304800
HP:0004370	Abnormality of temperature regulation	79621	RNASEH2B		orphadata	ORPHA:51
HP:0004370	Abnormality of temperature regulation	10878	CFHR3	susceptibility	mim2gene	OMIM:235400
HP:0004370	Abnormality of temperature regulation	554	AVPR2		orphadata	ORPHA:223
HP:0004370	Abnormality of temperature regulation	6697	SPR		orphadata	ORPHA:70594
HP:0004370	Abnormality of temperature regulation	283120	H19		orphadata	ORPHA:654
HP:0004370	Abnormality of temperature regulation	3394	IRF8		orphadata	ORPHA:319600
HP:0004370	Abnormality of temperature regulation	5604	MAP2K1	-	mim2gene	OMIM:615279
HP:0004370	Abnormality of temperature regulation	355	FAS		orphadata	ORPHA:117
HP:0004370	Abnormality of temperature regulation	779	CACNA1S	susceptibility	mim2gene	OMIM:601887
HP:0004370	Abnormality of temperature regulation	7189	TRAF6		orphadata	ORPHA:1810
HP:0004370	Abnormality of temperature regulation	4567	TRNL1		orphadata	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	4688	NCF2		orphadata	ORPHA:379
HP:0004370	Abnormality of temperature regulation	6559	SLC12A3	-	mim2gene	OMIM:263800
HP:0004370	Abnormality of temperature regulation	7454	WAS		orphadata	ORPHA:906
HP:0004370	Abnormality of temperature regulation	4535	ND1		orphadata	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	3123	HLA-DRB1		orphadata	ORPHA:797
HP:0004370	Abnormality of temperature regulation	7099	TLR4		orphadata	ORPHA:117
HP:0004370	Abnormality of temperature regulation	81607	NECTIN4	-	mim2gene	OMIM:613573
HP:0004370	Abnormality of temperature regulation	6775	STAT4		orphadata	ORPHA:117
HP:0004370	Abnormality of temperature regulation	54551	MAGEL2	-	mim2gene	OMIM:176270
HP:0004370	Abnormality of temperature regulation	4598	MVK		orphadata	ORPHA:343
HP:0004370	Abnormality of temperature regulation	2073	ERCC5		orphadata	ORPHA:910
HP:0004370	Abnormality of temperature regulation	10320	IKZF1		orphadata	ORPHA:36426
HP:0004370	Abnormality of temperature regulation	10108	MKRN3-AS1	-	mim2gene	OMIM:176270
HP:0004370	Abnormality of temperature regulation	595	CCND1		orphadata	ORPHA:52416
HP:0004370	Abnormality of temperature regulation	128178	EDARADD	-	mim2gene	OMIM:129490
HP:0004370	Abnormality of temperature regulation	51816	ADA2	-	mim2gene	OMIM:615688
HP:0004370	Abnormality of temperature regulation	4535	ND1		orphadata	ORPHA:550
HP:0004370	Abnormality of temperature regulation	4665	NAB2		orphadata	ORPHA:2126
HP:0004370	Abnormality of temperature regulation	331	XIAP	-	mim2gene	OMIM:300635
HP:0004370	Abnormality of temperature regulation	5295	PIK3R1		orphadata	ORPHA:33110
HP:0004370	Abnormality of temperature regulation	145624	PWAR1	-	mim2gene	OMIM:176270
HP:0004370	Abnormality of temperature regulation	1896	EDA	-	mim2gene	OMIM:305100
HP:0004370	Abnormality of temperature regulation	55636	CHD7		orphadata	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	3492	IGH		orphadata	ORPHA:52417
HP:0004370	Abnormality of temperature regulation	4618	MYF6		orphadata	ORPHA:169189
HP:0004370	Abnormality of temperature regulation	103	ADAR		orphadata	ORPHA:51
HP:0004370	Abnormality of temperature regulation	3123	HLA-DRB1		orphadata	ORPHA:545
HP:0004370	Abnormality of temperature regulation	84153	RNASEH2C		orphadata	ORPHA:51
HP:0004370	Abnormality of temperature regulation	26525	IL36RN	-	mim2gene	OMIM:614204
HP:0004370	Abnormality of temperature regulation	340061	STING1	-	mim2gene	OMIM:615934
HP:0004370	Abnormality of temperature regulation	114548	NLRP3		orphadata	ORPHA:47045
HP:0004370	Abnormality of temperature regulation	7080	NKX2-1		orphadata	ORPHA:209905
HP:0004370	Abnormality of temperature regulation	6925	TCF4		orphadata	ORPHA:171
HP:0004370	Abnormality of temperature regulation	8518	ELP1		orphadata	ORPHA:1764
HP:0004370	Abnormality of temperature regulation	4566	TRNK		orphadata	ORPHA:255210
HP:0004370	Abnormality of temperature regulation	60386	SLC25A19		orphadata	ORPHA:99742
HP:0004370	Abnormality of temperature regulation	5774	PTPN3		orphadata	ORPHA:70567
HP:0004370	Abnormality of temperature regulation	7507	XPA		orphadata	ORPHA:910
HP:0004370	Abnormality of temperature regulation	337867	UBAC2		orphadata	ORPHA:117
HP:0004370	Abnormality of temperature regulation	1277	COL1A1	-	mim2gene	OMIM:114000
HP:0004370	Abnormality of temperature regulation	5873	RAB27A		orphadata	ORPHA:79477
HP:0004370	Abnormality of temperature regulation	128178	EDARADD	-	mim2gene	OMIM:224900
HP:0004370	Abnormality of temperature regulation	720	C4A		orphadata	ORPHA:117
HP:0004370	Abnormality of temperature regulation	10134	BCAP31		orphadata	ORPHA:369939
HP:0004370	Abnormality of temperature regulation	3861	KRT14	-	mim2gene	OMIM:161000
HP:0004370	Abnormality of temperature regulation	5897	RAG2		orphadata	ORPHA:39041
HP:0004370	Abnormality of temperature regulation	3654	IRAK1		orphadata	ORPHA:93552
HP:0004370	Abnormality of temperature regulation	5644	PRSS1	-	mim2gene	OMIM:167800
HP:0004370	Abnormality of temperature regulation	1643	DDB2		orphadata	ORPHA:910
HP:0004370	Abnormality of temperature regulation	6337	SCNN1A		orphadata	ORPHA:60033
HP:0004370	Abnormality of temperature regulation	1716	DGUOK	-	mim2gene	OMIM:251880
HP:0004370	Abnormality of temperature regulation	3043	HBB		orphadata	ORPHA:231214
HP:0004370	Abnormality of temperature regulation	4689	NCF4		orphadata	ORPHA:379
HP:0004370	Abnormality of temperature regulation	10892	MALT1		orphadata	ORPHA:52417
HP:0004370	Abnormality of temperature regulation	6340	SCNN1G		orphadata	ORPHA:60033
HP:0004370	Abnormality of temperature regulation	10312	TCIRG1		orphadata	ORPHA:667
HP:0004370	Abnormality of temperature regulation	4210	MEFV		orphadata	ORPHA:117
HP:0004370	Abnormality of temperature regulation	19	ABCA1		orphadata	ORPHA:31150
HP:0004370	Abnormality of temperature regulation	4210	MEFV	-	mim2gene	OMIM:134610
HP:0004370	Abnormality of temperature regulation	28234	SLCO1B3		orphadata	ORPHA:3111
HP:0004370	Abnormality of temperature regulation	55823	VPS11	-	mim2gene	OMIM:616683
HP:0004370	Abnormality of temperature regulation	7508	XPC		orphadata	ORPHA:910
HP:0004370	Abnormality of temperature regulation	3856	KRT8	-	mim2gene	OMIM:215600
HP:0004370	Abnormality of temperature regulation	11330	CTRC	susceptibility	mim2gene	OMIM:167800
HP:0004370	Abnormality of temperature regulation	2203	FBP1	-	mim2gene	OMIM:229700
HP:0004370	Abnormality of temperature regulation	25939	SAMHD1		orphadata	ORPHA:51
HP:0004370	Abnormality of temperature regulation	6945	MLX		orphadata	ORPHA:3287
HP:0004371	Abnormality of glycosaminoglycan metabolism	138050	HGSNAT	-	mim2gene	OMIM:252930
HP:0004371	Abnormality of glycosaminoglycan metabolism	2799	GNS	-	mim2gene	OMIM:252940
HP:0004371	Abnormality of glycosaminoglycan metabolism	57192	MCOLN1		orphadata	ORPHA:578
HP:0004371	Abnormality of glycosaminoglycan metabolism	57192	MCOLN1	-	mim2gene	OMIM:252650
HP:0004372	Reduced consciousness/confusion	5903	RANBP2		orphadata	ORPHA:88619
HP:0004372	Reduced consciousness/confusion	150094	SIK1		orphadata	ORPHA:1935
HP:0004372	Reduced consciousness/confusion	285489	DOK7		orphadata	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	1305	COL13A1		orphadata	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	1140	CHRNB1		orphadata	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	2072	ERCC4		orphadata	ORPHA:220295
HP:0004372	Reduced consciousness/confusion	1512	CTSH		orphadata	ORPHA:2073
HP:0004372	Reduced consciousness/confusion	23530	NNT	-	mim2gene	OMIM:614736
HP:0004372	Reduced consciousness/confusion	5450	POU2AF1		orphadata	ORPHA:186
HP:0004372	Reduced consciousness/confusion	64087	MCCC2	-	mim2gene	OMIM:210210
HP:0004372	Reduced consciousness/confusion	5913	RAPSN		orphadata	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	3145	HMBS		orphadata	ORPHA:79276
HP:0004372	Reduced consciousness/confusion	55788	LMBRD1		orphadata	ORPHA:79284
HP:0004372	Reduced consciousness/confusion	6572	SLC18A3		orphadata	ORPHA:994
HP:0004372	Reduced consciousness/confusion	4726	NDUFS6	-	mim2gene	OMIM:618232
HP:0004372	Reduced consciousness/confusion	4593	MUSK		orphadata	ORPHA:994
HP:0004372	Reduced consciousness/confusion	80224	NUBPL		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4716	NDUFB10		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	3155	HMGCL		orphadata	ORPHA:20
HP:0004372	Reduced consciousness/confusion	593	BCKDHA	-	mim2gene	OMIM:248600
HP:0004372	Reduced consciousness/confusion	25974	MMACHC		orphadata	ORPHA:79282
HP:0004372	Reduced consciousness/confusion	1591	CYP24A1	-	mim2gene	OMIM:143880
HP:0004372	Reduced consciousness/confusion	51594	NBAS	-	mim2gene	OMIM:616483
HP:0004372	Reduced consciousness/confusion	1786	DNMT1	-	mim2gene	OMIM:614116
HP:0004372	Reduced consciousness/confusion	3123	HLA-DRB1		orphadata	ORPHA:83465
HP:0004372	Reduced consciousness/confusion	5660	PSAP		orphadata	ORPHA:309271
HP:0004372	Reduced consciousness/confusion	2645	GCK		orphadata	ORPHA:99885
HP:0004372	Reduced consciousness/confusion	128240	NAXE	-	mim2gene	OMIM:617186
HP:0004372	Reduced consciousness/confusion	79133	NDUFAF5		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	1376	CPT2	-	mim2gene	OMIM:600649
HP:0004372	Reduced consciousness/confusion	4729	NDUFV2		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	6598	SMARCB1		orphadata	ORPHA:99966
HP:0004372	Reduced consciousness/confusion	2639	GCDH		orphadata	ORPHA:25
HP:0004372	Reduced consciousness/confusion	6834	SURF1		orphadata	ORPHA:70474
HP:0004372	Reduced consciousness/confusion	326625	MMAB	-	mim2gene	OMIM:251110
HP:0004372	Reduced consciousness/confusion	126328	NDUFA11		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	3593	IL12B		orphadata	ORPHA:3287
HP:0004372	Reduced consciousness/confusion	2073	ERCC5		orphadata	ORPHA:220295
HP:0004372	Reduced consciousness/confusion	9056	SLC7A7		orphadata	ORPHA:470
HP:0004372	Reduced consciousness/confusion	10560	SLC19A2		orphadata	ORPHA:49827
HP:0004372	Reduced consciousness/confusion	4221	MEN1		orphadata	ORPHA:97279
HP:0004372	Reduced consciousness/confusion	122961	ISCA2	-	mim2gene	OMIM:616370
HP:0004372	Reduced consciousness/confusion	3106	HLA-B		orphadata	ORPHA:3287
HP:0004372	Reduced consciousness/confusion	4558	TRNF		orphadata	ORPHA:550
HP:0004372	Reduced consciousness/confusion	27247	NFU1	-	mim2gene	OMIM:605711
HP:0004372	Reduced consciousness/confusion	285489	DOK7		orphadata	ORPHA:994
HP:0004372	Reduced consciousness/confusion	4720	NDUFS2		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	9215	LARGE1	-	mim2gene	OMIM:236670
HP:0004372	Reduced consciousness/confusion	6584	SLC22A5		orphadata	ORPHA:158
HP:0004372	Reduced consciousness/confusion	374291	NDUFS7	-	mim2gene	OMIM:618224
HP:0004372	Reduced consciousness/confusion	5551	PRF1	-	mim2gene	OMIM:603553
HP:0004372	Reduced consciousness/confusion	57465	TBC1D24		orphadata	ORPHA:352596
HP:0004372	Reduced consciousness/confusion	3141	HLCS	-	mim2gene	OMIM:253270
HP:0004372	Reduced consciousness/confusion	594	BCKDHB	-	mim2gene	OMIM:248600
HP:0004372	Reduced consciousness/confusion	5621	PRNP	-	mim2gene	OMIM:123400
HP:0004372	Reduced consciousness/confusion	7292	TNFSF4		orphadata	ORPHA:2073
HP:0004372	Reduced consciousness/confusion	4720	NDUFS2		orphadata	ORPHA:70474
HP:0004372	Reduced consciousness/confusion	4340	MOG		orphadata	ORPHA:2073
HP:0004372	Reduced consciousness/confusion	351	APP		orphadata	ORPHA:324713
HP:0004372	Reduced consciousness/confusion	5009	OTC	-	mim2gene	OMIM:311250
HP:0004372	Reduced consciousness/confusion	3586	IL10		orphadata	ORPHA:117
HP:0004372	Reduced consciousness/confusion	10345	TRDN	-	mim2gene	OMIM:615441
HP:0004372	Reduced consciousness/confusion	1289	COL5A1		orphadata	ORPHA:287
HP:0004372	Reduced consciousness/confusion	3119	HLA-DQB1		orphadata	ORPHA:2073
HP:0004372	Reduced consciousness/confusion	445	ASS1	-	mim2gene	OMIM:215700
HP:0004372	Reduced consciousness/confusion	1371	CPOX		orphadata	ORPHA:79273
HP:0004372	Reduced consciousness/confusion	2645	GCK		orphadata	ORPHA:79299
HP:0004372	Reduced consciousness/confusion	1806	DPYD	-	mim2gene	OMIM:274270
HP:0004372	Reduced consciousness/confusion	57817	HAMP		orphadata	ORPHA:79230
HP:0004372	Reduced consciousness/confusion	4854	NOTCH3		orphadata	ORPHA:136
HP:0004372	Reduced consciousness/confusion	101928376	IL12A-AS1		orphadata	ORPHA:117
HP:0004372	Reduced consciousness/confusion	6689	SPIB		orphadata	ORPHA:186
HP:0004372	Reduced consciousness/confusion	4158	MC2R		orphadata	ORPHA:361
HP:0004372	Reduced consciousness/confusion	3075	CFH	susceptibility	mim2gene	OMIM:235400
HP:0004372	Reduced consciousness/confusion	22891	ZNF365		orphadata	ORPHA:2073
HP:0004372	Reduced consciousness/confusion	57511	COG6	-	mim2gene	OMIM:614576
HP:0004372	Reduced consciousness/confusion	51684	SUFU		orphadata	ORPHA:2495
HP:0004372	Reduced consciousness/confusion	5663	PSEN1		orphadata	ORPHA:1020
HP:0004372	Reduced consciousness/confusion	4719	NDUFS1	-	mim2gene	OMIM:618226
HP:0004372	Reduced consciousness/confusion	79751	SLC25A22		orphadata	ORPHA:1935
HP:0004372	Reduced consciousness/confusion	3594	IL12RB1		orphadata	ORPHA:186
HP:0004372	Reduced consciousness/confusion	4540	ND5		orphadata	ORPHA:550
HP:0004372	Reduced consciousness/confusion	79258	MMEL1		orphadata	ORPHA:186
HP:0004372	Reduced consciousness/confusion	551	AVP		orphadata	ORPHA:30925
HP:0004372	Reduced consciousness/confusion	35	ACADS	-	mim2gene	OMIM:201470
HP:0004372	Reduced consciousness/confusion	788	SLC25A20	-	mim2gene	OMIM:212138
HP:0004372	Reduced consciousness/confusion	443	ASPA		orphadata	ORPHA:314911
HP:0004372	Reduced consciousness/confusion	9056	SLC7A7	-	mim2gene	OMIM:222700
HP:0004372	Reduced consciousness/confusion	208	AKT2		orphadata	ORPHA:293964
HP:0004372	Reduced consciousness/confusion	4927	NUP88		orphadata	ORPHA:994
HP:0004372	Reduced consciousness/confusion	10587	TXNRD2		orphadata	ORPHA:361
HP:0004372	Reduced consciousness/confusion	513	ATP5F1D	-	mim2gene	OMIM:618120
HP:0004372	Reduced consciousness/confusion	6598	SMARCB1		orphadata	ORPHA:2495
HP:0004372	Reduced consciousness/confusion	4564	TRNH		orphadata	ORPHA:550
HP:0004372	Reduced consciousness/confusion	64849	SLC13A3	-	mim2gene	OMIM:618384
HP:0004372	Reduced consciousness/confusion	6261	RYR1		orphadata	ORPHA:324581
HP:0004372	Reduced consciousness/confusion	81693	AMN	-	mim2gene	OMIM:261100
HP:0004372	Reduced consciousness/confusion	3785	KCNQ2		orphadata	ORPHA:306
HP:0004372	Reduced consciousness/confusion	846	CASR		orphadata	ORPHA:428
HP:0004372	Reduced consciousness/confusion	5498	PPOX		orphadata	ORPHA:79473
HP:0004372	Reduced consciousness/confusion	23530	NNT		orphadata	ORPHA:361
HP:0004372	Reduced consciousness/confusion	7849	PAX8	-	mim2gene	OMIM:218700
HP:0004372	Reduced consciousness/confusion	25915	NDUFAF3		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4723	NDUFV1	-	mim2gene	OMIM:618225
HP:0004372	Reduced consciousness/confusion	4567	TRNL1		orphadata	ORPHA:550
HP:0004372	Reduced consciousness/confusion	6778	STAT6		orphadata	ORPHA:2126
HP:0004372	Reduced consciousness/confusion	6833	ABCC8	-	mim2gene	OMIM:256450
HP:0004372	Reduced consciousness/confusion	6528	SLC5A5	-	mim2gene	OMIM:274400
HP:0004372	Reduced consciousness/confusion	10166	SLC25A15		orphadata	ORPHA:415
HP:0004372	Reduced consciousness/confusion	8260	NAA10		orphadata	ORPHA:276432
HP:0004372	Reduced consciousness/confusion	5428	POLG		orphadata	ORPHA:254892
HP:0004372	Reduced consciousness/confusion	4536	ND2		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	1374	CPT1A		orphadata	ORPHA:156
HP:0004372	Reduced consciousness/confusion	55005	RMND1	-	mim2gene	OMIM:614922
HP:0004372	Reduced consciousness/confusion	4593	MUSK		orphadata	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	715	C1R		orphadata	ORPHA:93552
HP:0004372	Reduced consciousness/confusion	4594	MMUT		orphadata	ORPHA:79312
HP:0004372	Reduced consciousness/confusion	4719	NDUFS1		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	11128	POLR3A		orphadata	ORPHA:3455
HP:0004372	Reduced consciousness/confusion	11274	USP18	-	mim2gene	OMIM:617397
HP:0004372	Reduced consciousness/confusion	410	ARSA		orphadata	ORPHA:309271
HP:0004372	Reduced consciousness/confusion	4535	ND1		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4724	NDUFS4		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	3643	INSR	-	mim2gene	OMIM:609968
HP:0004372	Reduced consciousness/confusion	11093	ADAMTS13	-	mim2gene	OMIM:274150
HP:0004372	Reduced consciousness/confusion	2778	GNAS		orphadata	ORPHA:79444
HP:0004372	Reduced consciousness/confusion	2109	ETFB	-	mim2gene	OMIM:231680
HP:0004372	Reduced consciousness/confusion	37	ACADVL	-	mim2gene	OMIM:201475
HP:0004372	Reduced consciousness/confusion	3875	KRT18	-	mim2gene	OMIM:215600
HP:0004372	Reduced consciousness/confusion	4700	NDUFA6		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	6696	SPP1		orphadata	ORPHA:93552
HP:0004372	Reduced consciousness/confusion	4574	TRNS1		orphadata	ORPHA:550
HP:0004372	Reduced consciousness/confusion	4714	NDUFB8		orphadata	ORPHA:70474
HP:0004372	Reduced consciousness/confusion	540	ATP7B	-	mim2gene	OMIM:277900
HP:0004372	Reduced consciousness/confusion	29954	POMT2	-	mim2gene	OMIM:236670
HP:0004372	Reduced consciousness/confusion	2710	GK	-	mim2gene	OMIM:307030
HP:0004372	Reduced consciousness/confusion	9101	USP8		orphadata	ORPHA:96253
HP:0004372	Reduced consciousness/confusion	229	ALDOB	-	mim2gene	OMIM:229600
HP:0004372	Reduced consciousness/confusion	5913	RAPSN		orphadata	ORPHA:994
HP:0004372	Reduced consciousness/confusion	3060	HCRT		orphadata	ORPHA:83465
HP:0004372	Reduced consciousness/confusion	6908	TBP	-	mim2gene	OMIM:607136
HP:0004372	Reduced consciousness/confusion	1277	COL1A1		orphadata	ORPHA:287
HP:0004372	Reduced consciousness/confusion	5660	PSAP		orphadata	ORPHA:309256
HP:0004372	Reduced consciousness/confusion	1376	CPT2	-	mim2gene	OMIM:608836
HP:0004372	Reduced consciousness/confusion	2218	FKTN	-	mim2gene	OMIM:236670
HP:0004372	Reduced consciousness/confusion	6326	SCN2A		orphadata	ORPHA:306
HP:0004372	Reduced consciousness/confusion	4512	COX1		orphadata	ORPHA:550
HP:0004372	Reduced consciousness/confusion	10347	ABCA7		orphadata	ORPHA:1020
HP:0004372	Reduced consciousness/confusion	4726	NDUFS6		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	435	ASL	-	mim2gene	OMIM:207900
HP:0004372	Reduced consciousness/confusion	6833	ABCC8		orphadata	ORPHA:99886
HP:0004372	Reduced consciousness/confusion	6770	STAR		orphadata	ORPHA:361
HP:0004372	Reduced consciousness/confusion	56246	MRAP		orphadata	ORPHA:361
HP:0004372	Reduced consciousness/confusion	5032	P2RY11		orphadata	ORPHA:2073
HP:0004372	Reduced consciousness/confusion	4715	NDUFB9		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4578	TRNW		orphadata	ORPHA:550
HP:0004372	Reduced consciousness/confusion	4514	COX3		orphadata	ORPHA:550
HP:0004372	Reduced consciousness/confusion	2561	GABRB2	-	mim2gene	OMIM:617829
HP:0004372	Reduced consciousness/confusion	773	CACNA1A		orphadata	ORPHA:71518
HP:0004372	Reduced consciousness/confusion	10585	POMT1	-	mim2gene	OMIM:236670
HP:0004372	Reduced consciousness/confusion	8942	KYNU		orphadata	ORPHA:79155
HP:0004372	Reduced consciousness/confusion	712	C1QA		orphadata	ORPHA:93552
HP:0004372	Reduced consciousness/confusion	5325	PLAGL1		orphadata	ORPHA:99886
HP:0004372	Reduced consciousness/confusion	51300	TIMMDC1		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	3592	IL12A		orphadata	ORPHA:186
HP:0004372	Reduced consciousness/confusion	8302	KLRC4		orphadata	ORPHA:117
HP:0004372	Reduced consciousness/confusion	275	AMT	-	mim2gene	OMIM:605899
HP:0004372	Reduced consciousness/confusion	5664	PSEN2		orphadata	ORPHA:1020
HP:0004372	Reduced consciousness/confusion	3106	HLA-B		orphadata	ORPHA:117
HP:0004372	Reduced consciousness/confusion	4513	COX2		orphadata	ORPHA:550
HP:0004372	Reduced consciousness/confusion	55572	FOXRED1		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	5160	PDHA1	-	mim2gene	OMIM:312170
HP:0004372	Reduced consciousness/confusion	50484	RRM2B		orphadata	ORPHA:254892
HP:0004372	Reduced consciousness/confusion	547	KIF1A		orphadata	ORPHA:2836
HP:0004372	Reduced consciousness/confusion	2068	ERCC2		orphadata	ORPHA:220295
HP:0004372	Reduced consciousness/confusion	5428	POLG		orphadata	ORPHA:726
HP:0004372	Reduced consciousness/confusion	55863	TMEM126B		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	7054	TH		orphadata	ORPHA:101150
HP:0004372	Reduced consciousness/confusion	3030	HADHA		orphadata	ORPHA:746
HP:0004372	Reduced consciousness/confusion	51103	NDUFAF1		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	6513	SLC2A1	-	mim2gene	OMIM:606777
HP:0004372	Reduced consciousness/confusion	3767	KCNJ11		orphadata	ORPHA:99886
HP:0004372	Reduced consciousness/confusion	10165	SLC25A13	-	mim2gene	OMIM:603471
HP:0004372	Reduced consciousness/confusion	1188	CLCNKB		orphadata	ORPHA:358
HP:0004372	Reduced consciousness/confusion	91942	NDUFAF2		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	1281	COL3A1		orphadata	ORPHA:286
HP:0004372	Reduced consciousness/confusion	6506	SLC1A2	-	mim2gene	OMIM:617105
HP:0004372	Reduced consciousness/confusion	2731	GLDC	-	mim2gene	OMIM:605899
HP:0004372	Reduced consciousness/confusion	773	CACNA1A	-	mim2gene	OMIM:141500
HP:0004372	Reduced consciousness/confusion	7957	EPM2A		orphadata	ORPHA:501
HP:0004372	Reduced consciousness/confusion	3060	HCRT	question	mim2gene	OMIM:161400
HP:0004372	Reduced consciousness/confusion	1738	DLD		orphadata	ORPHA:2394
HP:0004372	Reduced consciousness/confusion	2629	GBA	susceptibility	mim2gene	OMIM:127750
HP:0004372	Reduced consciousness/confusion	5052	PRDX1	-	mim2gene	OMIM:277400
HP:0004372	Reduced consciousness/confusion	6833	ABCC8	-	mim2gene	OMIM:240800
HP:0004372	Reduced consciousness/confusion	1290	COL5A2		orphadata	ORPHA:287
HP:0004372	Reduced consciousness/confusion	4694	NDUFA1		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	148738	HJV	-	mim2gene	OMIM:602390
HP:0004372	Reduced consciousness/confusion	4709	NDUFB3		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	1230	CCR1		orphadata	ORPHA:117
HP:0004372	Reduced consciousness/confusion	1144	CHRND		orphadata	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	84334	COA8		orphadata	ORPHA:436271
HP:0004372	Reduced consciousness/confusion	6927	HNF1A		orphadata	ORPHA:324575
HP:0004372	Reduced consciousness/confusion	10166	SLC25A15	-	mim2gene	OMIM:238970
HP:0004372	Reduced consciousness/confusion	6833	ABCC8		orphadata	ORPHA:99885
HP:0004372	Reduced consciousness/confusion	1373	CPS1	-	mim2gene	OMIM:237300
HP:0004372	Reduced consciousness/confusion	6329	SCN4A		orphadata	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	4538	ND4		orphadata	ORPHA:550
HP:0004372	Reduced consciousness/confusion	3786	KCNQ3		orphadata	ORPHA:306
HP:0004372	Reduced consciousness/confusion	1629	DBT	-	mim2gene	OMIM:248600
HP:0004372	Reduced consciousness/confusion	57061	HYMAI		orphadata	ORPHA:99886
HP:0004372	Reduced consciousness/confusion	6513	SLC2A1		orphadata	ORPHA:71277
HP:0004372	Reduced consciousness/confusion	25915	NDUFAF3		orphadata	ORPHA:70474
HP:0004372	Reduced consciousness/confusion	56922	MCCC1	-	mim2gene	OMIM:210200
HP:0004372	Reduced consciousness/confusion	34	ACADM	-	mim2gene	OMIM:201450
HP:0004372	Reduced consciousness/confusion	4576	TRNT		orphadata	ORPHA:254857
HP:0004372	Reduced consciousness/confusion	10165	SLC25A13		orphadata	ORPHA:247585
HP:0004372	Reduced consciousness/confusion	3032	HADHB		orphadata	ORPHA:746
HP:0004372	Reduced consciousness/confusion	8892	EIF2B2	-	mim2gene	OMIM:603896
HP:0004372	Reduced consciousness/confusion	55788	LMBRD1	-	mim2gene	OMIM:277380
HP:0004372	Reduced consciousness/confusion	2108	ETFA	-	mim2gene	OMIM:231680
HP:0004372	Reduced consciousness/confusion	7067	THRA	-	mim2gene	OMIM:614450
HP:0004372	Reduced consciousness/confusion	1374	CPT1A	-	mim2gene	OMIM:255120
HP:0004372	Reduced consciousness/confusion	2203	FBP1		orphadata	ORPHA:348
HP:0004372	Reduced consciousness/confusion	56652	TWNK		orphadata	ORPHA:254892
HP:0004372	Reduced consciousness/confusion	5805	PTS		orphadata	ORPHA:13
HP:0004372	Reduced consciousness/confusion	4572	TRNQ		orphadata	ORPHA:550
HP:0004372	Reduced consciousness/confusion	788	SLC25A20		orphadata	ORPHA:159
HP:0004372	Reduced consciousness/confusion	6775	STAT4		orphadata	ORPHA:93552
HP:0004372	Reduced consciousness/confusion	378884	NHLRC1		orphadata	ORPHA:501
HP:0004372	Reduced consciousness/confusion	763	CA5A	-	mim2gene	OMIM:615751
HP:0004372	Reduced consciousness/confusion	5660	PSAP		orphadata	ORPHA:309263
HP:0004372	Reduced consciousness/confusion	5805	PTS	-	mim2gene	OMIM:261640
HP:0004372	Reduced consciousness/confusion	2643	GCH1	-	mim2gene	OMIM:233910
HP:0004372	Reduced consciousness/confusion	90624	LYRM7	-	mim2gene	OMIM:615838
HP:0004372	Reduced consciousness/confusion	410	ARSA		orphadata	ORPHA:309256
HP:0004372	Reduced consciousness/confusion	4038	LRP4		orphadata	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	60386	SLC25A19	-	mim2gene	OMIM:613710
HP:0004372	Reduced consciousness/confusion	410	ARSA		orphadata	ORPHA:309263
HP:0004372	Reduced consciousness/confusion	9966	TNFSF15		orphadata	ORPHA:186
HP:0004372	Reduced consciousness/confusion	2071	ERCC3		orphadata	ORPHA:220295
HP:0004372	Reduced consciousness/confusion	55739	NAXD	-	mim2gene	OMIM:618321
HP:0004372	Reduced consciousness/confusion	351	APP		orphadata	ORPHA:324703
HP:0004372	Reduced consciousness/confusion	221264	AK9		orphadata	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	673	BRAF		orphadata	ORPHA:54595
HP:0004372	Reduced consciousness/confusion	3119	HLA-DQB1		orphadata	ORPHA:83465
HP:0004372	Reduced consciousness/confusion	1760	DMPK	-	mim2gene	OMIM:160900
HP:0004372	Reduced consciousness/confusion	18	ABAT	-	mim2gene	OMIM:613163
HP:0004372	Reduced consciousness/confusion	54209	TREM2		orphadata	ORPHA:1020
HP:0004372	Reduced consciousness/confusion	6622	SNCA	-	mim2gene	OMIM:127750
HP:0004372	Reduced consciousness/confusion	55630	SLC39A4	-	mim2gene	OMIM:201100
HP:0004372	Reduced consciousness/confusion	6833	ABCC8		orphadata	ORPHA:276575
HP:0004372	Reduced consciousness/confusion	5096	PCCB	-	mim2gene	OMIM:606054
HP:0004372	Reduced consciousness/confusion	9896	FIG4	question	mim2gene	OMIM:612691
HP:0004372	Reduced consciousness/confusion	1144	CHRND		orphadata	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	29078	NDUFAF4		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	6521	SLC4A1	-	mim2gene	OMIM:611590
HP:0004372	Reduced consciousness/confusion	229	ALDOB		orphadata	ORPHA:469
HP:0004372	Reduced consciousness/confusion	4615	MYD88		orphadata	ORPHA:33226
HP:0004372	Reduced consciousness/confusion	3643	INSR		orphadata	ORPHA:263458
HP:0004372	Reduced consciousness/confusion	3119	HLA-DQB1	susceptibility	mim2gene	OMIM:123400
HP:0004372	Reduced consciousness/confusion	51021	MRPS16	-	mim2gene	OMIM:610498
HP:0004372	Reduced consciousness/confusion	1499	CTNNB1		orphadata	ORPHA:54595
HP:0004372	Reduced consciousness/confusion	686	BTD	-	mim2gene	OMIM:253260
HP:0004372	Reduced consciousness/confusion	5903	RANBP2	susceptibility	mim2gene	OMIM:608033
HP:0004372	Reduced consciousness/confusion	1371	CPOX	-	mim2gene	OMIM:121300
HP:0004372	Reduced consciousness/confusion	686	BTD		orphadata	ORPHA:79241
HP:0004372	Reduced consciousness/confusion	4556	TRNE		orphadata	ORPHA:2596
HP:0004372	Reduced consciousness/confusion	1967	EIF2B1	-	mim2gene	OMIM:603896
HP:0004372	Reduced consciousness/confusion	388962	BOLA3	-	mim2gene	OMIM:614299
HP:0004372	Reduced consciousness/confusion	8891	EIF2B3	-	mim2gene	OMIM:603896
HP:0004372	Reduced consciousness/confusion	54796	BNC2		orphadata	ORPHA:93110
HP:0004372	Reduced consciousness/confusion	162417	NAGS	-	mim2gene	OMIM:237310
HP:0004372	Reduced consciousness/confusion	346171	ZFP57		orphadata	ORPHA:99886
HP:0004372	Reduced consciousness/confusion	3141	HLCS		orphadata	ORPHA:79242
HP:0004372	Reduced consciousness/confusion	291	SLC25A4		orphadata	ORPHA:254892
HP:0004372	Reduced consciousness/confusion	5155	PDGFB		orphadata	ORPHA:2495
HP:0004372	Reduced consciousness/confusion	148738	HJV		orphadata	ORPHA:79230
HP:0004372	Reduced consciousness/confusion	6584	SLC22A5	-	mim2gene	OMIM:212140
HP:0004372	Reduced consciousness/confusion	38	ACAT1		orphadata	ORPHA:134
HP:0004372	Reduced consciousness/confusion	80704	SLC19A3	-	mim2gene	OMIM:607483
HP:0004372	Reduced consciousness/confusion	56978	PRDM8		orphadata	ORPHA:324290
HP:0004372	Reduced consciousness/confusion	3592	IL12A		orphadata	ORPHA:117
HP:0004372	Reduced consciousness/confusion	149233	IL23R		orphadata	ORPHA:117
HP:0004372	Reduced consciousness/confusion	4552	MTRR	-	mim2gene	OMIM:236270
HP:0004372	Reduced consciousness/confusion	1585	CYP11B2		orphadata	ORPHA:427
HP:0004372	Reduced consciousness/confusion	4723	NDUFV1		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	4541	ND6		orphadata	ORPHA:550
HP:0004372	Reduced consciousness/confusion	8942	KYNU	question	mim2gene	OMIM:236800
HP:0004372	Reduced consciousness/confusion	5631	PRPS1		orphadata	ORPHA:99014
HP:0004372	Reduced consciousness/confusion	33	ACADL		orphadata	ORPHA:99900
HP:0004372	Reduced consciousness/confusion	4340	MOG	question	mim2gene	OMIM:614250
HP:0004372	Reduced consciousness/confusion	36	ACADSB	-	mim2gene	OMIM:610006
HP:0004372	Reduced consciousness/confusion	23400	ATP13A2		orphadata	ORPHA:306674
HP:0004372	Reduced consciousness/confusion	34	ACADM		orphadata	ORPHA:42
HP:0004372	Reduced consciousness/confusion	54539	NDUFB11		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	8029	CUBN	-	mim2gene	OMIM:261100
HP:0004372	Reduced consciousness/confusion	9451	EIF2AK3		orphadata	ORPHA:1667
HP:0004372	Reduced consciousness/confusion	22891	ZNF365		orphadata	ORPHA:83465
HP:0004372	Reduced consciousness/confusion	6948	TCN2	-	mim2gene	OMIM:275350
HP:0004372	Reduced consciousness/confusion	1145	CHRNE		orphadata	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	23534	TNPO3		orphadata	ORPHA:186
HP:0004372	Reduced consciousness/confusion	7098	TLR3	susceptibility	mim2gene	OMIM:613002
HP:0004372	Reduced consciousness/confusion	56652	TWNK	-	mim2gene	OMIM:271245
HP:0004372	Reduced consciousness/confusion	162417	NAGS		orphadata	ORPHA:927
HP:0004372	Reduced consciousness/confusion	3078	CFHR1	susceptibility	mim2gene	OMIM:235400
HP:0004372	Reduced consciousness/confusion	8893	EIF2B5	-	mim2gene	OMIM:603896
HP:0004372	Reduced consciousness/confusion	3767	KCNJ11		orphadata	ORPHA:99885
HP:0004372	Reduced consciousness/confusion	37	ACADVL		orphadata	ORPHA:26793
HP:0004372	Reduced consciousness/confusion	3155	HMGCL	-	mim2gene	OMIM:246450
HP:0004372	Reduced consciousness/confusion	1738	DLD	-	mim2gene	OMIM:246900
HP:0004372	Reduced consciousness/confusion	1376	CPT2	susceptibility	mim2gene	OMIM:614212
HP:0004372	Reduced consciousness/confusion	6774	STAT3		orphadata	ORPHA:99885
HP:0004372	Reduced consciousness/confusion	27249	MMADHC	-	mim2gene	OMIM:277410
HP:0004372	Reduced consciousness/confusion	5826	ABCD4	-	mim2gene	OMIM:614857
HP:0004372	Reduced consciousness/confusion	2767	GNA11		orphadata	ORPHA:428
HP:0004372	Reduced consciousness/confusion	1134	CHRNA1		orphadata	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	11232	POLG2		orphadata	ORPHA:254892
HP:0004372	Reduced consciousness/confusion	3651	PDX1		orphadata	ORPHA:99885
HP:0004372	Reduced consciousness/confusion	3630	INS		orphadata	ORPHA:99885
HP:0004372	Reduced consciousness/confusion	6620	SNCB	-	mim2gene	OMIM:127750
HP:0004372	Reduced consciousness/confusion	4771	NF2		orphadata	ORPHA:2495
HP:0004372	Reduced consciousness/confusion	374291	NDUFS7		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	8890	EIF2B4	-	mim2gene	OMIM:603896
HP:0004372	Reduced consciousness/confusion	80704	SLC19A3		orphadata	ORPHA:263410
HP:0004372	Reduced consciousness/confusion	7351	UCP2		orphadata	ORPHA:276556
HP:0004372	Reduced consciousness/confusion	51752	ERAP1		orphadata	ORPHA:117
HP:0004372	Reduced consciousness/confusion	6653	SORL1		orphadata	ORPHA:1020
HP:0004372	Reduced consciousness/confusion	5621	PRNP		orphadata	ORPHA:282166
HP:0004372	Reduced consciousness/confusion	477	ATP1A2	-	mim2gene	OMIM:602481
HP:0004372	Reduced consciousness/confusion	2645	GCK	-	mim2gene	OMIM:602485
HP:0004372	Reduced consciousness/confusion	29110	TBK1	susceptibility	mim2gene	OMIM:617900
HP:0004372	Reduced consciousness/confusion	166785	MMAA	-	mim2gene	OMIM:251100
HP:0004372	Reduced consciousness/confusion	3060	HCRT		orphadata	ORPHA:2073
HP:0004372	Reduced consciousness/confusion	54820	NDE1		orphadata	ORPHA:2177
HP:0004372	Reduced consciousness/confusion	2746	GLUD1	-	mim2gene	OMIM:606762
HP:0004372	Reduced consciousness/confusion	3033	HADH	-	mim2gene	OMIM:609975
HP:0004372	Reduced consciousness/confusion	1135	CHRNA2	-	mim2gene	OMIM:610353
HP:0004372	Reduced consciousness/confusion	4575	TRNS2		orphadata	ORPHA:550
HP:0004372	Reduced consciousness/confusion	6334	SCN8A		orphadata	ORPHA:306
HP:0004372	Reduced consciousness/confusion	2705	GJB1		orphadata	ORPHA:101075
HP:0004372	Reduced consciousness/confusion	4654	MYOD1		orphadata	ORPHA:994
HP:0004372	Reduced consciousness/confusion	2653	GCSH	question	mim2gene	OMIM:605899
HP:0004372	Reduced consciousness/confusion	10878	CFHR3	susceptibility	mim2gene	OMIM:235400
HP:0004372	Reduced consciousness/confusion	6697	SPR		orphadata	ORPHA:70594
HP:0004372	Reduced consciousness/confusion	2592	GALT		orphadata	ORPHA:79239
HP:0004372	Reduced consciousness/confusion	355	FAS		orphadata	ORPHA:117
HP:0004372	Reduced consciousness/confusion	4722	NDUFS3		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	1717	DHCR7		orphadata	ORPHA:818
HP:0004372	Reduced consciousness/confusion	1807	DPYS	-	mim2gene	OMIM:222748
HP:0004372	Reduced consciousness/confusion	7099	TLR4		orphadata	ORPHA:117
HP:0004372	Reduced consciousness/confusion	4728	NDUFS8		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	6775	STAT4		orphadata	ORPHA:117
HP:0004372	Reduced consciousness/confusion	3784	KCNQ1		orphadata	ORPHA:90647
HP:0004372	Reduced consciousness/confusion	3123	HLA-DRB1		orphadata	ORPHA:2073
HP:0004372	Reduced consciousness/confusion	6559	SLC12A3		orphadata	ORPHA:358
HP:0004372	Reduced consciousness/confusion	1140	CHRNB1		orphadata	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	4535	ND1		orphadata	ORPHA:550
HP:0004372	Reduced consciousness/confusion	3172	HNF4A		orphadata	ORPHA:263455
HP:0004372	Reduced consciousness/confusion	4665	NAB2		orphadata	ORPHA:2126
HP:0004372	Reduced consciousness/confusion	9997	SCO2		orphadata	ORPHA:70474
HP:0004372	Reduced consciousness/confusion	6566	SLC16A1	-	mim2gene	OMIM:610021
HP:0004372	Reduced consciousness/confusion	10452	TOMM40		orphadata	ORPHA:1020
HP:0004372	Reduced consciousness/confusion	4158	MC2R	-	mim2gene	OMIM:202200
HP:0004372	Reduced consciousness/confusion	3033	HADH		orphadata	ORPHA:71212
HP:0004372	Reduced consciousness/confusion	64072	CDH23		orphadata	ORPHA:96253
HP:0004372	Reduced consciousness/confusion	2778	GNAS		orphadata	ORPHA:79443
HP:0004372	Reduced consciousness/confusion	27249	MMADHC		orphadata	ORPHA:79283
HP:0004372	Reduced consciousness/confusion	337867	UBAC2		orphadata	ORPHA:117
HP:0004372	Reduced consciousness/confusion	112476	PRRT2		orphadata	ORPHA:306
HP:0004372	Reduced consciousness/confusion	2110	ETFDH	-	mim2gene	OMIM:231680
HP:0004372	Reduced consciousness/confusion	720	C4A		orphadata	ORPHA:117
HP:0004372	Reduced consciousness/confusion	79147	FKRP	-	mim2gene	OMIM:236670
HP:0004372	Reduced consciousness/confusion	4537	ND3		orphadata	ORPHA:2609
HP:0004372	Reduced consciousness/confusion	3654	IRAK1		orphadata	ORPHA:93552
HP:0004372	Reduced consciousness/confusion	4594	MMUT	-	mim2gene	OMIM:251000
HP:0004372	Reduced consciousness/confusion	3767	KCNJ11		orphadata	ORPHA:276580
HP:0004372	Reduced consciousness/confusion	9326	ZNHIT3		orphadata	ORPHA:2836
HP:0004372	Reduced consciousness/confusion	549	AUH		orphadata	ORPHA:67046
HP:0004372	Reduced consciousness/confusion	4210	MEFV		orphadata	ORPHA:117
HP:0004372	Reduced consciousness/confusion	2998	GYS2		orphadata	ORPHA:2089
HP:0004372	Reduced consciousness/confusion	1145	CHRNE		orphadata	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	5095	PCCA	-	mim2gene	OMIM:606054
HP:0004372	Reduced consciousness/confusion	351	APP		orphadata	ORPHA:1020
HP:0004372	Reduced consciousness/confusion	3663	IRF5		orphadata	ORPHA:186
HP:0004372	Reduced consciousness/confusion	4720	NDUFS2	-	mim2gene	OMIM:618228
HP:0004372	Reduced consciousness/confusion	1786	DNMT1	-	mim2gene	OMIM:604121
HP:0004372	Reduced consciousness/confusion	1134	CHRNA1		orphadata	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	3856	KRT8	-	mim2gene	OMIM:215600
HP:0004372	Reduced consciousness/confusion	25974	MMACHC	-	mim2gene	OMIM:277400
HP:0004372	Reduced consciousness/confusion	3712	IVD	-	mim2gene	OMIM:243500
HP:0004372	Reduced consciousness/confusion	1376	CPT2		orphadata	ORPHA:228308
HP:0004372	Reduced consciousness/confusion	4594	MMUT		orphadata	ORPHA:289916
HP:0004372	Reduced consciousness/confusion	4724	NDUFS4	-	mim2gene	OMIM:252010
HP:0004372	Reduced consciousness/confusion	2203	FBP1	-	mim2gene	OMIM:229700
HP:0004372	Reduced consciousness/confusion	3753	KCNE1		orphadata	ORPHA:90647
HP:0004372	Reduced consciousness/confusion	375790	AGRN		orphadata	ORPHA:98913
HP:0004372	Reduced consciousness/confusion	4791	NFKB2		orphadata	ORPHA:293978
HP:0004372	Reduced consciousness/confusion	6945	MLX		orphadata	ORPHA:3287
HP:0004373	Focal dystonia	1678	TIMM8A		orphadata	ORPHA:52368
HP:0004373	Focal dystonia	10382	TUBB4A		orphadata	ORPHA:98805
HP:0004373	Focal dystonia	773	CACNA1A		orphadata	ORPHA:98758
HP:0004373	Focal dystonia	1292	COL6A2	-	mim2gene	OMIM:158810
HP:0004373	Focal dystonia	1292	COL6A2		orphadata	ORPHA:75840
HP:0004373	Focal dystonia	3208	HPCA		orphadata	ORPHA:99657
HP:0004373	Focal dystonia	1303	COL12A1		orphadata	ORPHA:610
HP:0004373	Focal dystonia	2767	GNA11		orphadata	ORPHA:428
HP:0004373	Focal dystonia	79734	KCTD17	-	mim2gene	OMIM:616398
HP:0004373	Focal dystonia	2261	FGFR3		orphadata	ORPHA:794
HP:0004373	Focal dystonia	1861	TOR1A		orphadata	ORPHA:36899
HP:0004373	Focal dystonia	343641	TGM6		orphadata	ORPHA:276193
HP:0004373	Focal dystonia	4137	MAPT		orphadata	ORPHA:240094
HP:0004373	Focal dystonia	846	CASR		orphadata	ORPHA:428
HP:0004373	Focal dystonia	1293	COL6A3	-	mim2gene	OMIM:254090
HP:0004373	Focal dystonia	3736	KCNA1		orphadata	ORPHA:98809
HP:0004373	Focal dystonia	1123	CHN1		orphadata	ORPHA:233
HP:0004373	Focal dystonia	8398	PLA2G6		orphadata	ORPHA:199351
HP:0004373	Focal dystonia	5582	PRKCG	-	mim2gene	OMIM:605361
HP:0004373	Focal dystonia	1293	COL6A3		orphadata	ORPHA:75840
HP:0004373	Focal dystonia	1291	COL6A1		orphadata	ORPHA:75840
HP:0004373	Focal dystonia	6342	SCP2	question	mim2gene	OMIM:613724
HP:0004373	Focal dystonia	6872	TAF1		orphadata	ORPHA:53351
HP:0004373	Focal dystonia	8260	NAA10		orphadata	ORPHA:276432
HP:0004373	Focal dystonia	54834	GDAP2	-	mim2gene	OMIM:618369
HP:0004373	Focal dystonia	1356	CP	-	mim2gene	OMIM:604290
HP:0004373	Focal dystonia	57465	TBC1D24	-	mim2gene	OMIM:608105
HP:0004373	Focal dystonia	6329	SCN4A		orphadata	ORPHA:99734
HP:0004373	Focal dystonia	112476	PRRT2		orphadata	ORPHA:98809
HP:0004373	Focal dystonia	8575	PRKRA	-	mim2gene	OMIM:612067
HP:0004373	Focal dystonia	80025	PANK2	-	mim2gene	OMIM:234200
HP:0004373	Focal dystonia	55768	NGLY1		orphadata	ORPHA:404454
HP:0004373	Focal dystonia	57465	TBC1D24		orphadata	ORPHA:163727
HP:0004373	Focal dystonia	11315	PARK7	-	mim2gene	OMIM:606324
HP:0004373	Focal dystonia	9533	POLR1C		orphadata	ORPHA:861
HP:0004373	Focal dystonia	4617	MYF5	-	mim2gene	OMIM:618155
HP:0004373	Focal dystonia	2778	GNAS		orphadata	ORPHA:79444
HP:0004373	Focal dystonia	773	CACNA1A		orphadata	ORPHA:97
HP:0004373	Focal dystonia	1813	DRD2		orphadata	ORPHA:36899
HP:0004373	Focal dystonia	55697	VAC14	-	mim2gene	OMIM:617054
HP:0004373	Focal dystonia	51102	MECR	-	mim2gene	OMIM:617282
HP:0004373	Focal dystonia	80025	PANK2		orphadata	ORPHA:216873
HP:0004373	Focal dystonia	1293	COL6A3	-	mim2gene	OMIM:616411
HP:0004373	Focal dystonia	2263	FGFR2		orphadata	ORPHA:794
HP:0004373	Focal dystonia	3748	KCNC3		orphadata	ORPHA:98768
HP:0004373	Focal dystonia	1861	TOR1A	-	mim2gene	OMIM:128100
HP:0004373	Focal dystonia	16	AARS1	-	mim2gene	OMIM:616339
HP:0004373	Focal dystonia	1292	COL6A2		orphadata	ORPHA:610
HP:0004373	Focal dystonia	8558	CDK10	-	mim2gene	OMIM:617694
HP:0004373	Focal dystonia	4137	MAPT	-	mim2gene	OMIM:601104
HP:0004373	Focal dystonia	4137	MAPT		orphadata	ORPHA:240103
HP:0004373	Focal dystonia	25953	PNKD	-	mim2gene	OMIM:118800
HP:0004373	Focal dystonia	79734	KCTD17		orphadata	ORPHA:36899
HP:0004373	Focal dystonia	3208	HPCA	-	mim2gene	OMIM:224500
HP:0004373	Focal dystonia	55145	THAP1		orphadata	ORPHA:98806
HP:0004373	Focal dystonia	3339	HSPG2		orphadata	ORPHA:800
HP:0004373	Focal dystonia	63982	ANO3		orphadata	ORPHA:420485
HP:0004373	Focal dystonia	55145	THAP1	-	mim2gene	OMIM:602629
HP:0004373	Focal dystonia	4137	MAPT		orphadata	ORPHA:240071
HP:0004373	Focal dystonia	58	ACTA1		orphadata	ORPHA:97240
HP:0004373	Focal dystonia	1293	COL6A3		orphadata	ORPHA:610
HP:0004373	Focal dystonia	8675	STX16		orphadata	ORPHA:94089
HP:0004373	Focal dystonia	7703	PCGF2	-	mim2gene	OMIM:618371
HP:0004373	Focal dystonia	170302	ARX	-	mim2gene	OMIM:309510
HP:0004373	Focal dystonia	112476	PRRT2		orphadata	ORPHA:98810
HP:0004373	Focal dystonia	25953	PNKD		orphadata	ORPHA:98810
HP:0004373	Focal dystonia	9757	KMT2B	-	mim2gene	OMIM:617284
HP:0004373	Focal dystonia	8910	SGCE	-	mim2gene	OMIM:159900
HP:0004373	Focal dystonia	1291	COL6A1	-	mim2gene	OMIM:254090
HP:0004373	Focal dystonia	2643	GCH1	-	mim2gene	OMIM:128230
HP:0004373	Focal dystonia	63982	ANO3	-	mim2gene	OMIM:615034
HP:0004373	Focal dystonia	10749	KIF1C		orphadata	ORPHA:397946
HP:0004373	Focal dystonia	8910	SGCE		orphadata	ORPHA:36899
HP:0004373	Focal dystonia	8575	PRKRA		orphadata	ORPHA:210571
HP:0004373	Focal dystonia	7701	ZNF142	-	mim2gene	OMIM:618425
HP:0004373	Focal dystonia	2512	FTL	-	mim2gene	OMIM:606159
HP:0004373	Focal dystonia	1293	COL6A3	-	mim2gene	OMIM:158810
HP:0004373	Focal dystonia	7042	TGFB2	-	mim2gene	OMIM:614816
HP:0004373	Focal dystonia	1303	COL12A1		orphadata	ORPHA:75840
HP:0004373	Focal dystonia	23516	SLC39A14		orphadata	ORPHA:521406
HP:0004373	Focal dystonia	59341	TRPV4	-	mim2gene	OMIM:181405
HP:0004373	Focal dystonia	1292	COL6A2	-	mim2gene	OMIM:254090
HP:0004373	Focal dystonia	773	CACNA1A		orphadata	ORPHA:71518
HP:0004373	Focal dystonia	3094	HINT1		orphadata	ORPHA:324442
HP:0004373	Focal dystonia	478	ATP1A3	-	mim2gene	OMIM:128235
HP:0004373	Focal dystonia	2778	GNAS		orphadata	ORPHA:94089
HP:0004373	Focal dystonia	2778	GNAS		orphadata	ORPHA:79443
HP:0004373	Focal dystonia	7291	TWIST1		orphadata	ORPHA:794
HP:0004373	Focal dystonia	84570	COL25A1		orphadata	ORPHA:233
HP:0004373	Focal dystonia	80347	COASY		orphadata	ORPHA:397725
HP:0004373	Focal dystonia	1291	COL6A1	-	mim2gene	OMIM:158810
HP:0004373	Focal dystonia	9935	MAFB		orphadata	ORPHA:233
HP:0004373	Focal dystonia	2643	GCH1		orphadata	ORPHA:98808
HP:0004373	Focal dystonia	91754	NEK9	-	mim2gene	OMIM:617022
HP:0004373	Focal dystonia	51082	POLR1D		orphadata	ORPHA:861
HP:0004373	Focal dystonia	56910	STARD7	-	mim2gene	OMIM:607876
HP:0004373	Focal dystonia	80704	SLC19A3	-	mim2gene	OMIM:607483
HP:0004373	Focal dystonia	10381	TUBB3		orphadata	ORPHA:300570
HP:0004373	Focal dystonia	83636	C19ORF12	-	mim2gene	OMIM:614298
HP:0004373	Focal dystonia	78989	COLEC11	-	mim2gene	OMIM:265050
HP:0004373	Focal dystonia	25792	CIZ1		orphadata	ORPHA:420492
HP:0004373	Focal dystonia	7054	TH		orphadata	ORPHA:101150
HP:0004373	Focal dystonia	23516	SLC39A14	-	mim2gene	OMIM:617013
HP:0004373	Focal dystonia	6908	TBP		orphadata	ORPHA:98759
HP:0004373	Focal dystonia	6949	TCOF1		orphadata	ORPHA:861
HP:0004373	Focal dystonia	2774	GNAL	-	mim2gene	OMIM:615073
HP:0004373	Focal dystonia	8831	SYNGAP1	-	mim2gene	OMIM:612621
HP:0004373	Focal dystonia	1816	DRD5	susceptibility	mim2gene	OMIM:606798
HP:0004373	Focal dystonia	1291	COL6A1		orphadata	ORPHA:610
HP:0004373	Focal dystonia	343641	TGM6	-	mim2gene	OMIM:613908
HP:0004373	Focal dystonia	10382	TUBB4A	-	mim2gene	OMIM:128101
HP:0004373	Focal dystonia	23400	ATP13A2		orphadata	ORPHA:306674
HP:0004373	Focal dystonia	478	ATP1A3		orphadata	ORPHA:71517
HP:0004373	Focal dystonia	80347	COASY	-	mim2gene	OMIM:615643
HP:0004373	Focal dystonia	2774	GNAL		orphadata	ORPHA:329466
HP:0004373	Focal dystonia	1356	CP		orphadata	ORPHA:48818
HP:0004373	Focal dystonia	1293	COL6A3		orphadata	ORPHA:464440
HP:0004373	Focal dystonia	2313	FLI1		orphadata	ORPHA:370348
HP:0004373	Focal dystonia	5832	ALDH18A1		orphadata	ORPHA:447757
HP:0004373	Focal dystonia	1822	ATN1		orphadata	ORPHA:101
HP:0004373	Focal dystonia	23400	ATP13A2	-	mim2gene	OMIM:606693
HP:0004374	Hemiplegia/hemiparesis	84942	WDR73		orphadata	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	5264	PHYH		orphadata	ORPHA:773
HP:0004374	Hemiplegia/hemiparesis	170302	ARX		orphadata	ORPHA:3175
HP:0004374	Hemiplegia/hemiparesis	3000	GUCY2D		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	5015	OTX2		orphadata	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	5728	PTEN		orphadata	ORPHA:137608
HP:0004374	Hemiplegia/hemiparesis	29954	POMT2		orphadata	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	1230	CCR1		orphadata	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	6507	SLC1A3		orphadata	ORPHA:209967
HP:0004374	Hemiplegia/hemiparesis	57514	ARHGAP31		orphadata	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	478	ATP1A3	-	mim2gene	OMIM:614820
HP:0004374	Hemiplegia/hemiparesis	4535	ND1	-	mim2gene	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4976	OPA1		orphadata	ORPHA:98673
HP:0004374	Hemiplegia/hemiparesis	4574	TRNS1	-	mim2gene	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	80169	CTC1	-	mim2gene	OMIM:612199
HP:0004374	Hemiplegia/hemiparesis	55624	POMGNT1		orphadata	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	727676	SNORD118	-	mim2gene	OMIM:614561
HP:0004374	Hemiplegia/hemiparesis	64802	NMNAT1		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	11277	TREX1		orphadata	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	473	RERE		orphadata	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	6513	SLC2A1		orphadata	ORPHA:71277
HP:0004374	Hemiplegia/hemiparesis	2260	FGFR1		orphadata	ORPHA:2396
HP:0004374	Hemiplegia/hemiparesis	54476	RNF216		orphadata	ORPHA:1173
HP:0004374	Hemiplegia/hemiparesis	9227	LRAT		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	7248	TSC1	-	mim2gene	OMIM:607341
HP:0004374	Hemiplegia/hemiparesis	4513	COX2	-	mim2gene	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	128674	PROKR2		orphadata	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	22909	FAN1		orphadata	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	4572	TRNQ	-	mim2gene	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	23221	RHOBTB2	-	mim2gene	OMIM:618004
HP:0004374	Hemiplegia/hemiparesis	6775	STAT4		orphadata	ORPHA:93552
HP:0004374	Hemiplegia/hemiparesis	392255	GDF6		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	4541	ND6	-	mim2gene	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	19	ABCA1		orphadata	ORPHA:425
HP:0004374	Hemiplegia/hemiparesis	383	ARG1		orphadata	ORPHA:90
HP:0004374	Hemiplegia/hemiparesis	3845	KRAS		orphadata	ORPHA:2396
HP:0004374	Hemiplegia/hemiparesis	284403	WDR62	-	mim2gene	OMIM:604317
HP:0004374	Hemiplegia/hemiparesis	5167	ENPP1		orphadata	ORPHA:758
HP:0004374	Hemiplegia/hemiparesis	83854	ANGPTL6		orphadata	ORPHA:231160
HP:0004374	Hemiplegia/hemiparesis	2475	MTOR	-	mim2gene	OMIM:607341
HP:0004374	Hemiplegia/hemiparesis	5191	PEX7		orphadata	ORPHA:773
HP:0004374	Hemiplegia/hemiparesis	57222	ERGIC1		orphadata	ORPHA:1143
HP:0004374	Hemiplegia/hemiparesis	57465	TBC1D24	-	mim2gene	OMIM:615338
HP:0004374	Hemiplegia/hemiparesis	4577	TRNV	-	mim2gene	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4668	NAGA		orphadata	ORPHA:79279
HP:0004374	Hemiplegia/hemiparesis	4514	COX3	-	mim2gene	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	3897	L1CAM		orphadata	ORPHA:2182
HP:0004374	Hemiplegia/hemiparesis	3897	L1CAM		orphadata	ORPHA:2466
HP:0004374	Hemiplegia/hemiparesis	145226	RDH12		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	6598	SMARCB1		orphadata	ORPHA:99966
HP:0004374	Hemiplegia/hemiparesis	10785	WDR4		orphadata	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	4204	MECP2		orphadata	ORPHA:778
HP:0004374	Hemiplegia/hemiparesis	2639	GCDH		orphadata	ORPHA:25
HP:0004374	Hemiplegia/hemiparesis	10908	PNPLA6		orphadata	ORPHA:1173
HP:0004374	Hemiplegia/hemiparesis	3113	HLA-DPA1		orphadata	ORPHA:900
HP:0004374	Hemiplegia/hemiparesis	9657	IQCB1		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	3119	HLA-DQB1	susceptibility	mim2gene	OMIM:123400
HP:0004374	Hemiplegia/hemiparesis	477	ATP1A2	-	mim2gene	OMIM:104290
HP:0004374	Hemiplegia/hemiparesis	4578	TRNW	-	mim2gene	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	343035	RD3		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	80184	CEP290		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	50640	PNPLA8	question	mim2gene	OMIM:251950
HP:0004374	Hemiplegia/hemiparesis	55644	OSGEP		orphadata	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	1284	COL4A2	-	mim2gene	OMIM:614483
HP:0004374	Hemiplegia/hemiparesis	3769	KCNJ13		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	5551	PRF1	-	mim2gene	OMIM:603553
HP:0004374	Hemiplegia/hemiparesis	57465	TBC1D24		orphadata	ORPHA:352596
HP:0004374	Hemiplegia/hemiparesis	57096	RPGRIP1		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	5621	PRNP	-	mim2gene	OMIM:123400
HP:0004374	Hemiplegia/hemiparesis	210	ALAD		orphadata	ORPHA:100924
HP:0004374	Hemiplegia/hemiparesis	4519	CYTB	-	mim2gene	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	3516	RBPJ		orphadata	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	3115	HLA-DPB1		orphadata	ORPHA:900
HP:0004374	Hemiplegia/hemiparesis	50484	RRM2B		orphadata	ORPHA:480
HP:0004374	Hemiplegia/hemiparesis	347733	TUBB2B	-	mim2gene	OMIM:610031
HP:0004374	Hemiplegia/hemiparesis	64135	IFIH1		orphadata	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	1281	COL3A1		orphadata	ORPHA:231160
HP:0004374	Hemiplegia/hemiparesis	3586	IL10		orphadata	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	3614	IMPDH1		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	10059	DNM1L		orphadata	ORPHA:98673
HP:0004374	Hemiplegia/hemiparesis	5155	PDGFB		orphadata	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	4854	NOTCH3		orphadata	ORPHA:136
HP:0004374	Hemiplegia/hemiparesis	657	BMPR1A		orphadata	ORPHA:440437
HP:0004374	Hemiplegia/hemiparesis	4854	NOTCH3		orphadata	ORPHA:2591
HP:0004374	Hemiplegia/hemiparesis	2632	GBE1		orphadata	ORPHA:206583
HP:0004374	Hemiplegia/hemiparesis	101928376	IL12A-AS1		orphadata	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	3592	IL12A		orphadata	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	149233	IL23R		orphadata	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	1776	DNASE1L3		orphadata	ORPHA:36412
HP:0004374	Hemiplegia/hemiparesis	3075	CFH	susceptibility	mim2gene	OMIM:235400
HP:0004374	Hemiplegia/hemiparesis	27030	MLH3		orphadata	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	51684	SUFU		orphadata	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	4222	MEOX1		orphadata	ORPHA:2345
HP:0004374	Hemiplegia/hemiparesis	7276	TTR	-	mim2gene	OMIM:105210
HP:0004374	Hemiplegia/hemiparesis	3251	HPRT1		orphadata	ORPHA:510
HP:0004374	Hemiplegia/hemiparesis	4512	COX1	-	mim2gene	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	9742	IFT140		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	9915	ARNT2		orphadata	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	9215	LARGE1		orphadata	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	5921	RASA1		orphadata	ORPHA:90307
HP:0004374	Hemiplegia/hemiparesis	4509	ATP8		orphadata	ORPHA:480
HP:0004374	Hemiplegia/hemiparesis	4558	TRNF	-	mim2gene	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	5378	PMS1		orphadata	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	6497	SKI		orphadata	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	6657	SOX2		orphadata	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	7098	TLR3	susceptibility	mim2gene	OMIM:613002
HP:0004374	Hemiplegia/hemiparesis	10585	POMT1		orphadata	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	3078	CFHR1	susceptibility	mim2gene	OMIM:235400
HP:0004374	Hemiplegia/hemiparesis	10804	GJB6		orphadata	ORPHA:477
HP:0004374	Hemiplegia/hemiparesis	57122	NUP107		orphadata	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	112858	TP53RK		orphadata	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	11277	TREX1	-	mim2gene	OMIM:192315
HP:0004374	Hemiplegia/hemiparesis	6598	SMARCB1		orphadata	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	2706	GJB2		orphadata	ORPHA:477
HP:0004374	Hemiplegia/hemiparesis	4292	MLH1		orphadata	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	2776	GNAQ		orphadata	ORPHA:624
HP:0004374	Hemiplegia/hemiparesis	1282	COL4A1	-	mim2gene	OMIM:175780
HP:0004374	Hemiplegia/hemiparesis	5395	PMS2		orphadata	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	4575	TRNS2	-	mim2gene	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	1406	CRX		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	2982	GUCY1A1	-	mim2gene	OMIM:615750
HP:0004374	Hemiplegia/hemiparesis	63976	PRDM16		orphadata	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	2260	FGFR1		orphadata	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	4771	NF2		orphadata	ORPHA:2495
HP:0004374	Hemiplegia/hemiparesis	85015	USP45		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	9990	SLC12A6		orphadata	ORPHA:1496
HP:0004374	Hemiplegia/hemiparesis	7174	TPP2		orphadata	ORPHA:444463
HP:0004374	Hemiplegia/hemiparesis	51752	ERAP1		orphadata	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	4566	TRNK	-	mim2gene	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	2956	MSH6		orphadata	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	477	ATP1A2	-	mim2gene	OMIM:602481
HP:0004374	Hemiplegia/hemiparesis	4851	NOTCH1		orphadata	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	1374	CPT1A		orphadata	ORPHA:156
HP:0004374	Hemiplegia/hemiparesis	29110	TBK1	susceptibility	mim2gene	OMIM:617900
HP:0004374	Hemiplegia/hemiparesis	5159	PDGFRB		orphadata	ORPHA:2591
HP:0004374	Hemiplegia/hemiparesis	8270	LAGE3		orphadata	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	715	C1R		orphadata	ORPHA:93552
HP:0004374	Hemiplegia/hemiparesis	57572	DOCK6		orphadata	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	2563	GABRD		orphadata	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	7249	TSC2	question	mim2gene	OMIM:607341
HP:0004374	Hemiplegia/hemiparesis	51002	TPRKB		orphadata	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	6507	SLC1A3	-	mim2gene	OMIM:612656
HP:0004374	Hemiplegia/hemiparesis	3845	KRAS		orphadata	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	4436	MSH2		orphadata	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	5130	PCYT1A		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	81704	DOCK8	-	mim2gene	OMIM:243700
HP:0004374	Hemiplegia/hemiparesis	79147	FKRP		orphadata	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	773	CACNA1A		orphadata	ORPHA:97
HP:0004374	Hemiplegia/hemiparesis	6323	SCN1A		orphadata	ORPHA:569
HP:0004374	Hemiplegia/hemiparesis	5290	PIK3CA		orphadata	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	23746	AIPL1		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	6696	SPP1		orphadata	ORPHA:93552
HP:0004374	Hemiplegia/hemiparesis	1493	CTLA4		orphadata	ORPHA:900
HP:0004374	Hemiplegia/hemiparesis	6224	RPS20		orphadata	ORPHA:440437
HP:0004374	Hemiplegia/hemiparesis	79621	RNASEH2B		orphadata	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	5422	POLA1	-	mim2gene	OMIM:301220
HP:0004374	Hemiplegia/hemiparesis	6821	SUOX	-	mim2gene	OMIM:272300
HP:0004374	Hemiplegia/hemiparesis	10878	CFHR3	susceptibility	mim2gene	OMIM:235400
HP:0004374	Hemiplegia/hemiparesis	478	ATP1A3	-	mim2gene	OMIM:601338
HP:0004374	Hemiplegia/hemiparesis	355	FAS		orphadata	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	7157	TP53		orphadata	ORPHA:2807
HP:0004374	Hemiplegia/hemiparesis	7287	TULP1		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	5053	PAH		orphadata	ORPHA:79254
HP:0004374	Hemiplegia/hemiparesis	4567	TRNL1	-	mim2gene	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	7099	TLR4		orphadata	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	26191	PTPN22		orphadata	ORPHA:900
HP:0004374	Hemiplegia/hemiparesis	51816	ADA2	question	mim2gene	OMIM:182410
HP:0004374	Hemiplegia/hemiparesis	6323	SCN1A	-	mim2gene	OMIM:609634
HP:0004374	Hemiplegia/hemiparesis	8820	HESX1		orphadata	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	3431	SP110		orphadata	ORPHA:79124
HP:0004374	Hemiplegia/hemiparesis	6775	STAT4		orphadata	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	7428	VHL		orphadata	ORPHA:892
HP:0004374	Hemiplegia/hemiparesis	875	CBS		orphadata	ORPHA:394
HP:0004374	Hemiplegia/hemiparesis	4511	TRNC	-	mim2gene	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	112476	PRRT2		orphadata	ORPHA:569
HP:0004374	Hemiplegia/hemiparesis	285203	EOGT		orphadata	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	51816	ADA2	-	mim2gene	OMIM:615688
HP:0004374	Hemiplegia/hemiparesis	55812	SPATA7		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	340665	CYP26C1		orphadata	ORPHA:398189
HP:0004374	Hemiplegia/hemiparesis	103	ADAR		orphadata	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	477	ATP1A2		orphadata	ORPHA:569
HP:0004374	Hemiplegia/hemiparesis	7274	TTPA		orphadata	ORPHA:96
HP:0004374	Hemiplegia/hemiparesis	84153	RNASEH2C		orphadata	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	4567	TRNL1		orphadata	ORPHA:480
HP:0004374	Hemiplegia/hemiparesis	4072	EPCAM		orphadata	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	712	C1QA		orphadata	ORPHA:93552
HP:0004374	Hemiplegia/hemiparesis	392255	GDF6		orphadata	ORPHA:2345
HP:0004374	Hemiplegia/hemiparesis	29925	GMPPB		orphadata	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	10535	RNASEH2A		orphadata	ORPHA:51
HP:0004374	Hemiplegia/hemiparesis	8302	KLRC4		orphadata	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	7048	TGFBR2		orphadata	ORPHA:144
HP:0004374	Hemiplegia/hemiparesis	64218	SEMA4A		orphadata	ORPHA:440437
HP:0004374	Hemiplegia/hemiparesis	337867	UBAC2		orphadata	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	3106	HLA-B		orphadata	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	148789	B3GALNT2		orphadata	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	51816	ADA2		orphadata	ORPHA:820
HP:0004374	Hemiplegia/hemiparesis	9573	GDF3		orphadata	ORPHA:2345
HP:0004374	Hemiplegia/hemiparesis	23418	CRB1		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	720	C4A		orphadata	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	167691	LCA5		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	55746	NUP133		orphadata	ORPHA:2065
HP:0004374	Hemiplegia/hemiparesis	3654	IRAK1		orphadata	ORPHA:93552
HP:0004374	Hemiplegia/hemiparesis	2022	ENG		orphadata	ORPHA:231160
HP:0004374	Hemiplegia/hemiparesis	7049	TGFBR3		orphadata	ORPHA:231160
HP:0004374	Hemiplegia/hemiparesis	368	ABCC6		orphadata	ORPHA:758
HP:0004374	Hemiplegia/hemiparesis	2132	EXT2		orphadata	ORPHA:321
HP:0004374	Hemiplegia/hemiparesis	4540	ND5	-	mim2gene	OMIM:540000
HP:0004374	Hemiplegia/hemiparesis	4210	MEFV		orphadata	ORPHA:117
HP:0004374	Hemiplegia/hemiparesis	773	CACNA1A		orphadata	ORPHA:569
HP:0004374	Hemiplegia/hemiparesis	6658	SOX3		orphadata	ORPHA:3157
HP:0004374	Hemiplegia/hemiparesis	6121	RPE65		orphadata	ORPHA:65
HP:0004374	Hemiplegia/hemiparesis	2218	FKTN		orphadata	ORPHA:588
HP:0004374	Hemiplegia/hemiparesis	8514	KCNAB2		orphadata	ORPHA:1606
HP:0004374	Hemiplegia/hemiparesis	6513	SLC2A1	-	mim2gene	OMIM:606777
HP:0004374	Hemiplegia/hemiparesis	54567	DLL4		orphadata	ORPHA:974
HP:0004374	Hemiplegia/hemiparesis	2131	EXT1		orphadata	ORPHA:321
HP:0004374	Hemiplegia/hemiparesis	11277	TREX1		orphadata	ORPHA:247691
HP:0004374	Hemiplegia/hemiparesis	335	APOA1		orphadata	ORPHA:425
HP:0004374	Hemiplegia/hemiparesis	5657	PRTN3		orphadata	ORPHA:900
HP:0004374	Hemiplegia/hemiparesis	347733	TUBB2B		orphadata	ORPHA:300573
HP:0004374	Hemiplegia/hemiparesis	773	CACNA1A	-	mim2gene	OMIM:141500
HP:0004374	Hemiplegia/hemiparesis	4594	MMUT		orphadata	ORPHA:289916
HP:0004374	Hemiplegia/hemiparesis	8517	IKBKG		orphadata	ORPHA:464
HP:0004374	Hemiplegia/hemiparesis	25939	SAMHD1		orphadata	ORPHA:51
HP:0004375	Neoplasm of the nervous system	6391	SDHC	-	mim2gene	OMIM:606864
HP:0004375	Neoplasm of the nervous system	64324	NSD1		orphadata	ORPHA:821
HP:0004375	Neoplasm of the nervous system	6391	SDHC	-	mim2gene	OMIM:606764
HP:0004375	Neoplasm of the nervous system	29072	SETD2		orphadata	ORPHA:821
HP:0004375	Neoplasm of the nervous system	4893	NRAS	-	mim2gene	OMIM:249400
HP:0004375	Neoplasm of the nervous system	2737	GLI3	susceptibility; somatic	mim2gene	OMIM:241800
HP:0004375	Neoplasm of the nervous system	5147	PDE6D		orphadata	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	51684	SUFU	susceptibility	mim2gene	OMIM:607174
HP:0004375	Neoplasm of the nervous system	51684	SUFU	-	mim2gene	OMIM:109400
HP:0004375	Neoplasm of the nervous system	51684	SUFU	-	mim2gene	OMIM:155255
HP:0004375	Neoplasm of the nervous system	324	APC	-	mim2gene	OMIM:175100
HP:0004375	Neoplasm of the nervous system	374654	KIF7		orphadata	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	2778	GNAS		orphadata	ORPHA:189427
HP:0004375	Neoplasm of the nervous system	473	RERE		orphadata	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	4913	NTHL1		orphadata	ORPHA:454840
HP:0004375	Neoplasm of the nervous system	5728	PTEN		orphadata	ORPHA:79076
HP:0004375	Neoplasm of the nervous system	4437	MSH3	-	mim2gene	OMIM:617100
HP:0004375	Neoplasm of the nervous system	8929	PHOX2B		orphadata	ORPHA:2151
HP:0004375	Neoplasm of the nervous system	5290	PIK3CA	-	mim2gene	OMIM:615108
HP:0004375	Neoplasm of the nervous system	4771	NF2	-	mim2gene	OMIM:162091
HP:0004375	Neoplasm of the nervous system	8402	SLC25A11		orphadata	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	6392	SDHD		orphadata	ORPHA:201
HP:0004375	Neoplasm of the nervous system	4990	SIX6	-	mim2gene	OMIM:206900
HP:0004375	Neoplasm of the nervous system	203068	TUBB	-	mim2gene	OMIM:156610
HP:0004375	Neoplasm of the nervous system	6390	SDHB	-	mim2gene	OMIM:606864
HP:0004375	Neoplasm of the nervous system	429	ASCL1		orphadata	ORPHA:99803
HP:0004375	Neoplasm of the nervous system	657	BMPR1A		orphadata	ORPHA:79076
HP:0004375	Neoplasm of the nervous system	3418	IDH2		orphadata	ORPHA:163634
HP:0004375	Neoplasm of the nervous system	22909	FAN1		orphadata	ORPHA:144
HP:0004375	Neoplasm of the nervous system	4763	NF1	-	mim2gene	OMIM:162210
HP:0004375	Neoplasm of the nervous system	51259	TMEM216		orphadata	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	6392	SDHD		orphadata	ORPHA:100093
HP:0004375	Neoplasm of the nervous system	429	ASCL1	-	mim2gene	OMIM:209880
HP:0004375	Neoplasm of the nervous system	2668	GDNF	-	mim2gene	OMIM:209880
HP:0004375	Neoplasm of the nervous system	4437	MSH3		orphadata	ORPHA:480536
HP:0004375	Neoplasm of the nervous system	1030	CDKN2B		orphadata	ORPHA:652
HP:0004375	Neoplasm of the nervous system	9817	KEAP1		orphadata	ORPHA:276399
HP:0004375	Neoplasm of the nervous system	23405	DICER1		orphadata	ORPHA:276399
HP:0004375	Neoplasm of the nervous system	23405	DICER1	-	mim2gene	OMIM:601200
HP:0004375	Neoplasm of the nervous system	83605	CCM2		orphadata	ORPHA:221061
HP:0004375	Neoplasm of the nervous system	1029	CDKN2A		orphadata	ORPHA:524
HP:0004375	Neoplasm of the nervous system	8643	PTCH2	-	mim2gene	OMIM:109400
HP:0004375	Neoplasm of the nervous system	238	ALK		orphadata	ORPHA:635
HP:0004375	Neoplasm of the nervous system	5781	PTPN11		orphadata	ORPHA:500
HP:0004375	Neoplasm of the nervous system	1743	DLST	-	mim2gene	OMIM:618475
HP:0004375	Neoplasm of the nervous system	1031	CDKN2C		orphadata	ORPHA:652
HP:0004375	Neoplasm of the nervous system	8402	SLC25A11	-	mim2gene	OMIM:618464
HP:0004375	Neoplasm of the nervous system	5979	RET	-	mim2gene	OMIM:171400
HP:0004375	Neoplasm of the nervous system	4683	NBN	-	mim2gene	OMIM:251260
HP:0004375	Neoplasm of the nervous system	5970	RELA		orphadata	ORPHA:251636
HP:0004375	Neoplasm of the nervous system	11200	CHEK2		orphadata	ORPHA:524
HP:0004375	Neoplasm of the nervous system	3458	IFNG	susceptibility; modifier	mim2gene	OMIM:613254
HP:0004375	Neoplasm of the nervous system	2737	GLI3		orphadata	ORPHA:672
HP:0004375	Neoplasm of the nervous system	5979	RET	-	mim2gene	OMIM:171300
HP:0004375	Neoplasm of the nervous system	5573	PRKAR1A		orphadata	ORPHA:1359
HP:0004375	Neoplasm of the nervous system	4191	MDH2		orphadata	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	6598	SMARCB1		orphadata	ORPHA:99966
HP:0004375	Neoplasm of the nervous system	6605	SMARCE1	susceptibility	mim2gene	OMIM:607174
HP:0004375	Neoplasm of the nervous system	1908	EDN3	-	mim2gene	OMIM:209880
HP:0004375	Neoplasm of the nervous system	7157	TP53	susceptibility	mim2gene	OMIM:137800
HP:0004375	Neoplasm of the nervous system	4436	MSH2	-	mim2gene	OMIM:276300
HP:0004375	Neoplasm of the nervous system	2064	ERBB2	-	mim2gene	OMIM:137800
HP:0004375	Neoplasm of the nervous system	5155	PDGFB	-	mim2gene	OMIM:607174
HP:0004375	Neoplasm of the nervous system	203068	TUBB		orphadata	ORPHA:2505
HP:0004375	Neoplasm of the nervous system	6390	SDHB		orphadata	ORPHA:97286
HP:0004375	Neoplasm of the nervous system	4771	NF2	-	mim2gene	OMIM:607174
HP:0004375	Neoplasm of the nervous system	256646	NUTM1		orphadata	ORPHA:443167
HP:0004375	Neoplasm of the nervous system	675	BRCA2	susceptibility	mim2gene	OMIM:613029
HP:0004375	Neoplasm of the nervous system	4221	MEN1		orphadata	ORPHA:97279
HP:0004375	Neoplasm of the nervous system	8929	PHOX2B	-	mim2gene	OMIM:209880
HP:0004375	Neoplasm of the nervous system	4193	MDM2		orphadata	ORPHA:524
HP:0004375	Neoplasm of the nervous system	7248	TSC1		orphadata	ORPHA:805
HP:0004375	Neoplasm of the nervous system	5728	PTEN	-	mim2gene	OMIM:158350
HP:0004375	Neoplasm of the nervous system	25913	POT1	susceptibility	mim2gene	OMIM:616568
HP:0004375	Neoplasm of the nervous system	6391	SDHC	-	mim2gene	OMIM:605373
HP:0004375	Neoplasm of the nervous system	8481	OFD1		orphadata	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	4149	MAX	susceptibility	mim2gene	OMIM:171300
HP:0004375	Neoplasm of the nervous system	6598	SMARCB1	-	mim2gene	OMIM:609322
HP:0004375	Neoplasm of the nervous system	4771	NF2		orphadata	ORPHA:637
HP:0004375	Neoplasm of the nervous system	4763	NF1	-	mim2gene	OMIM:193520
HP:0004375	Neoplasm of the nervous system	79944	L2HGDH		orphadata	ORPHA:79314
HP:0004375	Neoplasm of the nervous system	8643	PTCH2	-	mim2gene	OMIM:155255
HP:0004375	Neoplasm of the nervous system	4221	MEN1	-	mim2gene	OMIM:131100
HP:0004375	Neoplasm of the nervous system	7248	TSC1	-	mim2gene	OMIM:191100
HP:0004375	Neoplasm of the nervous system	5979	RET	-	mim2gene	OMIM:162300
HP:0004375	Neoplasm of the nervous system	6392	SDHD	-	mim2gene	OMIM:168000
HP:0004375	Neoplasm of the nervous system	5728	PTEN		orphadata	ORPHA:201
HP:0004375	Neoplasm of the nervous system	4149	MAX		orphadata	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	5979	RET	-	mim2gene	OMIM:209880
HP:0004375	Neoplasm of the nervous system	7157	TP53	susceptibility	mim2gene	OMIM:260500
HP:0004375	Neoplasm of the nervous system	57531	HACE1		orphadata	ORPHA:635
HP:0004375	Neoplasm of the nervous system	5155	PDGFB		orphadata	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	5894	RAF1		orphadata	ORPHA:500
HP:0004375	Neoplasm of the nervous system	6598	SMARCB1	susceptibility	mim2gene	OMIM:162091
HP:0004375	Neoplasm of the nervous system	26123	TCTN3		orphadata	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	673	BRAF		orphadata	ORPHA:500
HP:0004375	Neoplasm of the nervous system	657	BMPR1A		orphadata	ORPHA:440437
HP:0004375	Neoplasm of the nervous system	4854	NOTCH3		orphadata	ORPHA:2591
HP:0004375	Neoplasm of the nervous system	317662	FAM149B1		orphadata	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	2271	FH		orphadata	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	27030	MLH3		orphadata	ORPHA:144
HP:0004375	Neoplasm of the nervous system	51684	SUFU		orphadata	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	5290	PIK3CA	-	mim2gene	OMIM:602501
HP:0004375	Neoplasm of the nervous system	4613	MYCN		orphadata	ORPHA:635
HP:0004375	Neoplasm of the nervous system	55654	TMEM127		orphadata	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	283446	MYO1H		orphadata	ORPHA:661
HP:0004375	Neoplasm of the nervous system	8092	ALX1		orphadata	ORPHA:306542
HP:0004375	Neoplasm of the nervous system	7490	WT1		orphadata	ORPHA:83469
HP:0004375	Neoplasm of the nervous system	5728	PTEN	susceptibility	mim2gene	OMIM:607174
HP:0004375	Neoplasm of the nervous system	26040	SETBP1		orphadata	ORPHA:798
HP:0004375	Neoplasm of the nervous system	6391	SDHC		orphadata	ORPHA:97286
HP:0004375	Neoplasm of the nervous system	6389	SDHA		orphadata	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	10982	MAPRE2		orphadata	ORPHA:2505
HP:0004375	Neoplasm of the nervous system	4221	MEN1		orphadata	ORPHA:652
HP:0004375	Neoplasm of the nervous system	4000	LMNA		orphadata	ORPHA:363618
HP:0004375	Neoplasm of the nervous system	2260	FGFR1	-	mim2gene	OMIM:613001
HP:0004375	Neoplasm of the nervous system	1743	DLST		orphadata	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	2313	FLI1		orphadata	ORPHA:370348
HP:0004375	Neoplasm of the nervous system	4763	NF1	-	mim2gene	OMIM:162200
HP:0004375	Neoplasm of the nervous system	5378	PMS1		orphadata	ORPHA:144
HP:0004375	Neoplasm of the nervous system	6390	SDHB		orphadata	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	11200	CHEK2	-	mim2gene	OMIM:609265
HP:0004375	Neoplasm of the nervous system	79728	PALB2	-	mim2gene	OMIM:610832
HP:0004375	Neoplasm of the nervous system	6497	SKI		orphadata	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	4683	NBN		orphadata	ORPHA:647
HP:0004375	Neoplasm of the nervous system	79633	FAT4		orphadata	ORPHA:2136
HP:0004375	Neoplasm of the nervous system	324	APC		orphadata	ORPHA:247806
HP:0004375	Neoplasm of the nervous system	57688	ZSWIM6		orphadata	ORPHA:1827
HP:0004375	Neoplasm of the nervous system	4771	NF2	-	mim2gene	OMIM:101000
HP:0004375	Neoplasm of the nervous system	7249	TSC2	-	mim2gene	OMIM:613254
HP:0004375	Neoplasm of the nervous system	161742	SPRED1	-	mim2gene	OMIM:611431
HP:0004375	Neoplasm of the nervous system	627	BDNF		orphadata	ORPHA:661
HP:0004375	Neoplasm of the nervous system	207	AKT1		orphadata	ORPHA:744
HP:0004375	Neoplasm of the nervous system	207	AKT1	-	mim2gene	OMIM:615109
HP:0004375	Neoplasm of the nervous system	6391	SDHC		orphadata	ORPHA:201
HP:0004375	Neoplasm of the nervous system	4913	NTHL1	-	mim2gene	OMIM:616415
HP:0004375	Neoplasm of the nervous system	6598	SMARCB1		orphadata	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	4041	LRP5	-	mim2gene	OMIM:259770
HP:0004375	Neoplasm of the nervous system	4292	MLH1		orphadata	ORPHA:144
HP:0004375	Neoplasm of the nervous system	1788	DNMT3A		orphadata	ORPHA:404443
HP:0004375	Neoplasm of the nervous system	5395	PMS2		orphadata	ORPHA:144
HP:0004375	Neoplasm of the nervous system	3417	IDH1		orphadata	ORPHA:163634
HP:0004375	Neoplasm of the nervous system	5979	RET		orphadata	ORPHA:99803
HP:0004375	Neoplasm of the nervous system	54949	SDHAF2		orphadata	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	4000	LMNA		orphadata	ORPHA:79474
HP:0004375	Neoplasm of the nervous system	2956	MSH6	-	mim2gene	OMIM:276300
HP:0004375	Neoplasm of the nervous system	63976	PRDM16		orphadata	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	7249	TSC2		orphadata	ORPHA:805
HP:0004375	Neoplasm of the nervous system	4771	NF2		orphadata	ORPHA:2495
HP:0004375	Neoplasm of the nervous system	2048	EPHB2	susceptibility; somatic	mim2gene	OMIM:603688
HP:0004375	Neoplasm of the nervous system	6392	SDHD	-	mim2gene	OMIM:606864
HP:0004375	Neoplasm of the nervous system	51057	WDPCP		orphadata	ORPHA:1338
HP:0004375	Neoplasm of the nervous system	8929	PHOX2B	-	mim2gene	OMIM:613013
HP:0004375	Neoplasm of the nervous system	6597	SMARCA4	susceptibility	mim2gene	OMIM:613325
HP:0004375	Neoplasm of the nervous system	1029	CDKN2A	susceptibility	mim2gene	OMIM:155755
HP:0004375	Neoplasm of the nervous system	6778	STAT6		orphadata	ORPHA:2126
HP:0004375	Neoplasm of the nervous system	6390	SDHB	-	mim2gene	OMIM:115310
HP:0004375	Neoplasm of the nervous system	2956	MSH6		orphadata	ORPHA:144
HP:0004375	Neoplasm of the nervous system	324	APC	-	mim2gene	OMIM:175100
HP:0004375	Neoplasm of the nervous system	23095	KIF1B	susceptibility	mim2gene	OMIM:256700
HP:0004375	Neoplasm of the nervous system	4330	MN1	-	mim2gene	OMIM:607174
HP:0004375	Neoplasm of the nervous system	8929	PHOX2B		orphadata	ORPHA:635
HP:0004375	Neoplasm of the nervous system	8314	BAP1	-	mim2gene	OMIM:614327
HP:0004375	Neoplasm of the nervous system	3417	IDH1	susceptibility; somatic	mim2gene	OMIM:137800
HP:0004375	Neoplasm of the nervous system	5159	PDGFRB		orphadata	ORPHA:2591
HP:0004375	Neoplasm of the nervous system	7428	VHL		orphadata	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	2563	GABRD		orphadata	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	1499	CTNNB1	-	mim2gene	OMIM:155255
HP:0004375	Neoplasm of the nervous system	861	RUNX1	-	mim2gene	OMIM:601399
HP:0004375	Neoplasm of the nervous system	2668	GDNF		orphadata	ORPHA:661
HP:0004375	Neoplasm of the nervous system	889	KRIT1		orphadata	ORPHA:221061
HP:0004375	Neoplasm of the nervous system	3845	KRAS		orphadata	ORPHA:144
HP:0004375	Neoplasm of the nervous system	23476	BRD4		orphadata	ORPHA:443167
HP:0004375	Neoplasm of the nervous system	54894	RNF43		orphadata	ORPHA:157798
HP:0004375	Neoplasm of the nervous system	9851	KIAA0753		orphadata	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	6390	SDHB	-	mim2gene	OMIM:606764
HP:0004375	Neoplasm of the nervous system	4436	MSH2		orphadata	ORPHA:144
HP:0004375	Neoplasm of the nervous system	8216	LZTR1	susceptibility	mim2gene	OMIM:615670
HP:0004375	Neoplasm of the nervous system	7486	WRN	-	mim2gene	OMIM:277700
HP:0004375	Neoplasm of the nervous system	6391	SDHC		orphadata	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	5573	PRKAR1A	-	mim2gene	OMIM:160980
HP:0004375	Neoplasm of the nervous system	7428	VHL	-	mim2gene	OMIM:193300
HP:0004375	Neoplasm of the nervous system	5290	PIK3CA		orphadata	ORPHA:144
HP:0004375	Neoplasm of the nervous system	6392	SDHD		orphadata	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	8481	OFD1	-	mim2gene	OMIM:311200
HP:0004375	Neoplasm of the nervous system	1026	CDKN1A		orphadata	ORPHA:652
HP:0004375	Neoplasm of the nervous system	6224	RPS20		orphadata	ORPHA:440437
HP:0004375	Neoplasm of the nervous system	8929	PHOX2B		orphadata	ORPHA:99803
HP:0004375	Neoplasm of the nervous system	5727	PTCH1		orphadata	ORPHA:77301
HP:0004375	Neoplasm of the nervous system	6390	SDHB	-	mim2gene	OMIM:171300
HP:0004375	Neoplasm of the nervous system	238	ALK		orphadata	ORPHA:635
HP:0004375	Neoplasm of the nervous system	79798	ARMC5		orphadata	ORPHA:189427
HP:0004375	Neoplasm of the nervous system	7157	TP53		orphadata	ORPHA:2807
HP:0004375	Neoplasm of the nervous system	324	APC		orphadata	ORPHA:79665
HP:0004375	Neoplasm of the nervous system	3735	KARS1	question	mim2gene	OMIM:613641
HP:0004375	Neoplasm of the nervous system	207	AKT1		orphadata	ORPHA:201
HP:0004375	Neoplasm of the nervous system	595	CCND1	susceptibility; modifier	mim2gene	OMIM:193300
HP:0004375	Neoplasm of the nervous system	389421	LIN28B		orphadata	ORPHA:635
HP:0004375	Neoplasm of the nervous system	2239	GPC4		orphadata	ORPHA:373
HP:0004375	Neoplasm of the nervous system	7428	VHL		orphadata	ORPHA:892
HP:0004375	Neoplasm of the nervous system	546	ATRX		orphadata	ORPHA:100075
HP:0004375	Neoplasm of the nervous system	5426	POLE		orphadata	ORPHA:447877
HP:0004375	Neoplasm of the nervous system	1616	DAXX		orphadata	ORPHA:100075
HP:0004375	Neoplasm of the nervous system	147372	CCBE1		orphadata	ORPHA:2136
HP:0004375	Neoplasm of the nervous system	2130	EWSR1		orphadata	ORPHA:83469
HP:0004375	Neoplasm of the nervous system	4004	LMO1		orphadata	ORPHA:635
HP:0004375	Neoplasm of the nervous system	3815	KIT	-	mim2gene	OMIM:606764
HP:0004375	Neoplasm of the nervous system	4665	NAB2		orphadata	ORPHA:2126
HP:0004375	Neoplasm of the nervous system	65250	CPLANE1	-	mim2gene	OMIM:277170
HP:0004375	Neoplasm of the nervous system	1027	CDKN1B		orphadata	ORPHA:276152
HP:0004375	Neoplasm of the nervous system	4952	OCRL		orphadata	ORPHA:534
HP:0004375	Neoplasm of the nervous system	675	BRCA2	susceptibility	mim2gene	OMIM:155255
HP:0004375	Neoplasm of the nervous system	6392	SDHD	-	mim2gene	OMIM:171300
HP:0004375	Neoplasm of the nervous system	2642	GCGR		orphadata	ORPHA:438274
HP:0004375	Neoplasm of the nervous system	1027	CDKN1B	-	mim2gene	OMIM:610755
HP:0004375	Neoplasm of the nervous system	6392	SDHD		orphadata	ORPHA:97286
HP:0004375	Neoplasm of the nervous system	4763	NF1	-	mim2gene	OMIM:601321
HP:0004375	Neoplasm of the nervous system	55654	TMEM127	susceptibility	mim2gene	OMIM:171300
HP:0004375	Neoplasm of the nervous system	4072	EPCAM		orphadata	ORPHA:144
HP:0004375	Neoplasm of the nervous system	100144748	KLLN		orphadata	ORPHA:201
HP:0004375	Neoplasm of the nervous system	1908	EDN3		orphadata	ORPHA:661
HP:0004375	Neoplasm of the nervous system	10483	SEC23B		orphadata	ORPHA:201
HP:0004375	Neoplasm of the nervous system	23095	KIF1B		orphadata	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	7048	TGFBR2		orphadata	ORPHA:144
HP:0004375	Neoplasm of the nervous system	64218	SEMA4A		orphadata	ORPHA:440437
HP:0004375	Neoplasm of the nervous system	5424	POLD1		orphadata	ORPHA:447877
HP:0004375	Neoplasm of the nervous system	5290	PIK3CA		orphadata	ORPHA:201
HP:0004375	Neoplasm of the nervous system	257	ALX3		orphadata	ORPHA:391474
HP:0004375	Neoplasm of the nervous system	324	APC		orphadata	ORPHA:99818
HP:0004375	Neoplasm of the nervous system	54949	SDHAF2	-	mim2gene	OMIM:601650
HP:0004375	Neoplasm of the nervous system	9508	ADAMTS3		orphadata	ORPHA:2136
HP:0004375	Neoplasm of the nervous system	5979	RET		orphadata	ORPHA:29072
HP:0004375	Neoplasm of the nervous system	3265	HRAS	-	mim2gene	OMIM:218040
HP:0004375	Neoplasm of the nervous system	2737	GLI3	-	mim2gene	OMIM:146510
HP:0004375	Neoplasm of the nervous system	11235	PDCD10		orphadata	ORPHA:221061
HP:0004375	Neoplasm of the nervous system	4292	MLH1	-	mim2gene	OMIM:276300
HP:0004375	Neoplasm of the nervous system	6657	SOX2	-	mim2gene	OMIM:206900
HP:0004375	Neoplasm of the nervous system	65998	C11ORF95		orphadata	ORPHA:251636
HP:0004375	Neoplasm of the nervous system	5395	PMS2	-	mim2gene	OMIM:276300
HP:0004375	Neoplasm of the nervous system	2719	GPC3		orphadata	ORPHA:373
HP:0004375	Neoplasm of the nervous system	7486	WRN		orphadata	ORPHA:902
HP:0004375	Neoplasm of the nervous system	5728	PTEN		orphadata	ORPHA:109
HP:0004375	Neoplasm of the nervous system	2668	GDNF	susceptibility; modifier	mim2gene	OMIM:171300
HP:0004375	Neoplasm of the nervous system	257	ALX3	-	mim2gene	OMIM:136760
HP:0004375	Neoplasm of the nervous system	6390	SDHB		orphadata	ORPHA:201
HP:0004375	Neoplasm of the nervous system	8929	PHOX2B		orphadata	ORPHA:661
HP:0004375	Neoplasm of the nervous system	8514	KCNAB2		orphadata	ORPHA:1606
HP:0004375	Neoplasm of the nervous system	5728	PTEN		orphadata	ORPHA:744
HP:0004375	Neoplasm of the nervous system	389692	MAFA	-	mim2gene	OMIM:147630
HP:0004375	Neoplasm of the nervous system	23095	KIF1B	-	mim2gene	OMIM:171300
HP:0004375	Neoplasm of the nervous system	65250	CPLANE1		orphadata	ORPHA:2754
HP:0004375	Neoplasm of the nervous system	7428	VHL	-	mim2gene	OMIM:171300
HP:0004375	Neoplasm of the nervous system	7157	TP53		orphadata	ORPHA:524
HP:0004375	Neoplasm of the nervous system	7153	TOP2A		orphadata	ORPHA:635
HP:0004375	Neoplasm of the nervous system	6389	SDHA	-	mim2gene	OMIM:614165
HP:0004375	Neoplasm of the nervous system	1027	CDKN1B		orphadata	ORPHA:652
HP:0004375	Neoplasm of the nervous system	5925	RB1	-	mim2gene	OMIM:180200
HP:0004375	Neoplasm of the nervous system	5727	PTCH1	-	mim2gene	OMIM:109400
HP:0004375	Neoplasm of the nervous system	10297	APC2		orphadata	ORPHA:821
HP:0004376	Neuroblastic tumor	203068	TUBB		orphadata	ORPHA:2505
HP:0004376	Neuroblastic tumor	2239	GPC4		orphadata	ORPHA:373
HP:0004376	Neuroblastic tumor	627	BDNF		orphadata	ORPHA:661
HP:0004376	Neuroblastic tumor	256646	NUTM1		orphadata	ORPHA:443167
HP:0004376	Neuroblastic tumor	8929	PHOX2B	-	mim2gene	OMIM:209880
HP:0004376	Neuroblastic tumor	4292	MLH1		orphadata	ORPHA:144
HP:0004376	Neuroblastic tumor	5395	PMS2		orphadata	ORPHA:144
HP:0004376	Neuroblastic tumor	5979	RET		orphadata	ORPHA:99803
HP:0004376	Neuroblastic tumor	2956	MSH6	-	mim2gene	OMIM:276300
HP:0004376	Neuroblastic tumor	63976	PRDM16		orphadata	ORPHA:1606
HP:0004376	Neuroblastic tumor	8929	PHOX2B	-	mim2gene	OMIM:613013
HP:0004376	Neuroblastic tumor	473	RERE		orphadata	ORPHA:1606
HP:0004376	Neuroblastic tumor	6390	SDHB	-	mim2gene	OMIM:115310
HP:0004376	Neuroblastic tumor	2956	MSH6		orphadata	ORPHA:144
HP:0004376	Neuroblastic tumor	8929	PHOX2B		orphadata	ORPHA:2151
HP:0004376	Neuroblastic tumor	4763	NF1	-	mim2gene	OMIM:601321
HP:0004376	Neuroblastic tumor	4072	EPCAM		orphadata	ORPHA:144
HP:0004376	Neuroblastic tumor	23095	KIF1B	susceptibility	mim2gene	OMIM:256700
HP:0004376	Neuroblastic tumor	1908	EDN3		orphadata	ORPHA:661
HP:0004376	Neuroblastic tumor	203068	TUBB	-	mim2gene	OMIM:156610
HP:0004376	Neuroblastic tumor	7048	TGFBR2		orphadata	ORPHA:144
HP:0004376	Neuroblastic tumor	64218	SEMA4A		orphadata	ORPHA:440437
HP:0004376	Neuroblastic tumor	429	ASCL1		orphadata	ORPHA:99803
HP:0004376	Neuroblastic tumor	5979	RET	-	mim2gene	OMIM:209880
HP:0004376	Neuroblastic tumor	22909	FAN1		orphadata	ORPHA:144
HP:0004376	Neuroblastic tumor	2563	GABRD		orphadata	ORPHA:1606
HP:0004376	Neuroblastic tumor	429	ASCL1	-	mim2gene	OMIM:209880
HP:0004376	Neuroblastic tumor	5894	RAF1		orphadata	ORPHA:500
HP:0004376	Neuroblastic tumor	861	RUNX1	-	mim2gene	OMIM:601399
HP:0004376	Neuroblastic tumor	2668	GDNF	-	mim2gene	OMIM:209880
HP:0004376	Neuroblastic tumor	2668	GDNF		orphadata	ORPHA:661
HP:0004376	Neuroblastic tumor	673	BRAF		orphadata	ORPHA:500
HP:0004376	Neuroblastic tumor	657	BMPR1A		orphadata	ORPHA:440437
HP:0004376	Neuroblastic tumor	3845	KRAS		orphadata	ORPHA:144
HP:0004376	Neuroblastic tumor	23476	BRD4		orphadata	ORPHA:443167
HP:0004376	Neuroblastic tumor	4292	MLH1	-	mim2gene	OMIM:276300
HP:0004376	Neuroblastic tumor	4436	MSH2		orphadata	ORPHA:144
HP:0004376	Neuroblastic tumor	5395	PMS2	-	mim2gene	OMIM:276300
HP:0004376	Neuroblastic tumor	27030	MLH3		orphadata	ORPHA:144
HP:0004376	Neuroblastic tumor	2719	GPC3		orphadata	ORPHA:373
HP:0004376	Neuroblastic tumor	5781	PTPN11		orphadata	ORPHA:500
HP:0004376	Neuroblastic tumor	283446	MYO1H		orphadata	ORPHA:661
HP:0004376	Neuroblastic tumor	5290	PIK3CA		orphadata	ORPHA:144
HP:0004376	Neuroblastic tumor	8929	PHOX2B		orphadata	ORPHA:661
HP:0004376	Neuroblastic tumor	8514	KCNAB2		orphadata	ORPHA:1606
HP:0004376	Neuroblastic tumor	10982	MAPRE2		orphadata	ORPHA:2505
HP:0004376	Neuroblastic tumor	6224	RPS20		orphadata	ORPHA:440437
HP:0004376	Neuroblastic tumor	8929	PHOX2B		orphadata	ORPHA:99803
HP:0004376	Neuroblastic tumor	5378	PMS1		orphadata	ORPHA:144
HP:0004376	Neuroblastic tumor	1908	EDN3	-	mim2gene	OMIM:209880
HP:0004376	Neuroblastic tumor	79728	PALB2	-	mim2gene	OMIM:610832
HP:0004376	Neuroblastic tumor	4436	MSH2	-	mim2gene	OMIM:276300
HP:0004376	Neuroblastic tumor	6497	SKI		orphadata	ORPHA:1606
HP:0004377	Hematological neoplasm	472	ATM	-	mim2gene	OMIM:208900
HP:0004377	Hematological neoplasm	3981	LIG4	susceptibility	mim2gene	OMIM:254500
HP:0004377	Hematological neoplasm	3815	KIT	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	4763	NF1	-	mim2gene	OMIM:607785
HP:0004377	Hematological neoplasm	4352	MPL		orphadata	ORPHA:729
HP:0004377	Hematological neoplasm	6165	RPL35A		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	6141	RPL18		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	51428	DDX41	susceptibility	mim2gene	OMIM:616871
HP:0004377	Hematological neoplasm	8915	BCL10		orphadata	ORPHA:52417
HP:0004377	Hematological neoplasm	51119	SBDS	-	mim2gene	OMIM:260400
HP:0004377	Hematological neoplasm	4026	LPP	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	330	BIRC3		orphadata	ORPHA:52417
HP:0004377	Hematological neoplasm	2120	ETV6	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	2162	F13A1		orphadata	ORPHA:331
HP:0004377	Hematological neoplasm	931	MS4A1		orphadata	ORPHA:1572
HP:0004377	Hematological neoplasm	8626	TP63		orphadata	ORPHA:1896
HP:0004377	Hematological neoplasm	546	ATRX	-	mim2gene	OMIM:300448
HP:0004377	Hematological neoplasm	3981	LIG4		orphadata	ORPHA:39041
HP:0004377	Hematological neoplasm	3717	JAK2	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	8021	NUP214	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	4791	NFKB2		orphadata	ORPHA:1572
HP:0004377	Hematological neoplasm	2177	FANCD2	-	mim2gene	OMIM:227646
HP:0004377	Hematological neoplasm	3717	JAK2		orphadata	ORPHA:824
HP:0004377	Hematological neoplasm	23451	SF3B1	-	mim2gene	OMIM:614286
HP:0004377	Hematological neoplasm	9487	PIGL	-	mim2gene	OMIM:280000
HP:0004377	Hematological neoplasm	4893	NRAS	-	mim2gene	OMIM:613224
HP:0004377	Hematological neoplasm	10312	TCIRG1		orphadata	ORPHA:486
HP:0004377	Hematological neoplasm	55159	RFWD3		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	54790	TET2		orphadata	ORPHA:86839
HP:0004377	Hematological neoplasm	546	ATRX		orphadata	ORPHA:231401
HP:0004377	Hematological neoplasm	11277	TREX1		orphadata	ORPHA:51
HP:0004377	Hematological neoplasm	4913	NTHL1		orphadata	ORPHA:454840
HP:0004377	Hematological neoplasm	5781	PTPN11	-	mim2gene	OMIM:607785
HP:0004377	Hematological neoplasm	811	CALR	-	mim2gene	OMIM:187950
HP:0004377	Hematological neoplasm	9837	GINS1	-	mim2gene	OMIM:617827
HP:0004377	Hematological neoplasm	7456	WIPF1		orphadata	ORPHA:906
HP:0004377	Hematological neoplasm	23451	SF3B1		orphadata	ORPHA:75564
HP:0004377	Hematological neoplasm	55505	NOP10		orphadata	ORPHA:1775
HP:0004377	Hematological neoplasm	10125	RASGRP1		orphadata	ORPHA:3261
HP:0004377	Hematological neoplasm	2624	GATA2	-	mim2gene	OMIM:614172
HP:0004377	Hematological neoplasm	2735	GLI1		orphadata	ORPHA:289
HP:0004377	Hematological neoplasm	7133	TNFRSF1B		orphadata	ORPHA:2584
HP:0004377	Hematological neoplasm	7518	XRCC4		orphadata	ORPHA:99812
HP:0004377	Hematological neoplasm	5580	PRKCD		orphadata	ORPHA:3261
HP:0004377	Hematological neoplasm	55651	NHP2		orphadata	ORPHA:1775
HP:0004377	Hematological neoplasm	5277	PIGA		orphadata	ORPHA:447
HP:0004377	Hematological neoplasm	867	CBL	-	mim2gene	OMIM:613563
HP:0004377	Hematological neoplasm	4352	MPL		orphadata	ORPHA:3318
HP:0004377	Hematological neoplasm	4352	MPL		orphadata	ORPHA:71493
HP:0004377	Hematological neoplasm	9487	PIGL		orphadata	ORPHA:3474
HP:0004377	Hematological neoplasm	7066	THPO	-	mim2gene	OMIM:187950
HP:0004377	Hematological neoplasm	2189	FANCG	-	mim2gene	OMIM:614082
HP:0004377	Hematological neoplasm	843	CASP10	-	mim2gene	OMIM:605027
HP:0004377	Hematological neoplasm	7012	TERC	-	mim2gene	OMIM:127550
HP:0004377	Hematological neoplasm	2072	ERCC4		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	55215	FANCI		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	2624	GATA2	susceptibility	mim2gene	OMIM:614286
HP:0004377	Hematological neoplasm	1029	CDKN2A		orphadata	ORPHA:524
HP:0004377	Hematological neoplasm	4869	NPM1	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	867	CBL	question	mim2gene	OMIM:607785
HP:0004377	Hematological neoplasm	2065	ERBB3	susceptibility; question	mim2gene	OMIM:133180
HP:0004377	Hematological neoplasm	5781	PTPN11		orphadata	ORPHA:500
HP:0004377	Hematological neoplasm	5073	PARN		orphadata	ORPHA:1775
HP:0004377	Hematological neoplasm	2672	GFI1		orphadata	ORPHA:486
HP:0004377	Hematological neoplasm	4683	NBN	-	mim2gene	OMIM:251260
HP:0004377	Hematological neoplasm	3313	HSPA9	-	mim2gene	OMIM:182170
HP:0004377	Hematological neoplasm	54790	TET2		orphadata	ORPHA:824
HP:0004377	Hematological neoplasm	3815	KIT		orphadata	ORPHA:98849
HP:0004377	Hematological neoplasm	8328	GFI1B		orphadata	ORPHA:721
HP:0004377	Hematological neoplasm	10459	MAD2L2		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	613	BCR	-	mim2gene	OMIM:613065
HP:0004377	Hematological neoplasm	51626	DYNC2LI1		orphadata	ORPHA:289
HP:0004377	Hematological neoplasm	29851	ICOS		orphadata	ORPHA:1572
HP:0004377	Hematological neoplasm	8742	TNFSF12		orphadata	ORPHA:1572
HP:0004377	Hematological neoplasm	11200	CHEK2		orphadata	ORPHA:524
HP:0004377	Hematological neoplasm	1991	ELANE	-	mim2gene	OMIM:202700
HP:0004377	Hematological neoplasm	6208	RPS14		orphadata	ORPHA:86841
HP:0004377	Hematological neoplasm	2188	FANCF		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	79650	USB1		orphadata	ORPHA:1775
HP:0004377	Hematological neoplasm	6138	RPL15		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	26277	TINF2	-	mim2gene	OMIM:127550
HP:0004377	Hematological neoplasm	51119	SBDS		orphadata	ORPHA:811
HP:0004377	Hematological neoplasm	4893	NRAS	question	mim2gene	OMIM:614470
HP:0004377	Hematological neoplasm	6154	RPL26		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	51816	ADA2		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	6201	RPS7		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	7305	TYROBP		orphadata	ORPHA:2770
HP:0004377	Hematological neoplasm	4436	MSH2	-	mim2gene	OMIM:276300
HP:0004377	Hematological neoplasm	613	BCR	-	mim2gene	OMIM:608232
HP:0004377	Hematological neoplasm	4292	MLH1		orphadata	ORPHA:587
HP:0004377	Hematological neoplasm	2175	FANCA		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	84464	SLX4		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	843	CASP10		orphadata	ORPHA:3261
HP:0004377	Hematological neoplasm	54790	TET2		orphadata	ORPHA:98826
HP:0004377	Hematological neoplasm	7015	TERT	-	mim2gene	OMIM:127550
HP:0004377	Hematological neoplasm	9319	TRIP13		orphadata	ORPHA:1052
HP:0004377	Hematological neoplasm	4615	MYD88		orphadata	ORPHA:33226
HP:0004377	Hematological neoplasm	256646	NUTM1		orphadata	ORPHA:443167
HP:0004377	Hematological neoplasm	2782	GNB1	-	mim2gene	OMIM:613065
HP:0004377	Hematological neoplasm	23495	TNFRSF13B		orphadata	ORPHA:1572
HP:0004377	Hematological neoplasm	4609	MYC	-	mim2gene	OMIM:113970
HP:0004377	Hematological neoplasm	7157	TP53		orphadata	ORPHA:3318
HP:0004377	Hematological neoplasm	1788	DNMT3A	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	4193	MDM2		orphadata	ORPHA:524
HP:0004377	Hematological neoplasm	219285	SAMD9L		orphadata	ORPHA:2585
HP:0004377	Hematological neoplasm	8915	BCL10	-	mim2gene	OMIM:137245
HP:0004377	Hematological neoplasm	25913	POT1	susceptibility	mim2gene	OMIM:616568
HP:0004377	Hematological neoplasm	6204	RPS10		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	2033	EP300	-	mim2gene	OMIM:180849
HP:0004377	Hematological neoplasm	701	BUB1B		orphadata	ORPHA:1052
HP:0004377	Hematological neoplasm	134218	DNAJC21		orphadata	ORPHA:811
HP:0004377	Hematological neoplasm	811	CALR	-	mim2gene	OMIM:254450
HP:0004377	Hematological neoplasm	3981	LIG4		orphadata	ORPHA:99812
HP:0004377	Hematological neoplasm	596	BCL2		orphadata	ORPHA:545
HP:0004377	Hematological neoplasm	54790	TET2		orphadata	ORPHA:98849
HP:0004377	Hematological neoplasm	3717	JAK2		orphadata	ORPHA:71493
HP:0004377	Hematological neoplasm	54809	SAMD9	-	mim2gene	OMIM:617053
HP:0004377	Hematological neoplasm	6609	SMPD1		orphadata	ORPHA:77293
HP:0004377	Hematological neoplasm	79728	PALB2		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	9184	BUB3		orphadata	ORPHA:1052
HP:0004377	Hematological neoplasm	5644	PRSS1		orphadata	ORPHA:64740
HP:0004377	Hematological neoplasm	4869	NPM1		orphadata	ORPHA:1775
HP:0004377	Hematological neoplasm	3832	KIF11		orphadata	ORPHA:2526
HP:0004377	Hematological neoplasm	3702	ITK	-	mim2gene	OMIM:613011
HP:0004377	Hematological neoplasm	613	BCR		orphadata	ORPHA:521
HP:0004377	Hematological neoplasm	4436	MSH2		orphadata	ORPHA:587
HP:0004377	Hematological neoplasm	6887	TAL2	-	mim2gene	OMIM:613065
HP:0004377	Hematological neoplasm	6729	SRP54	-	mim2gene	OMIM:260400
HP:0004377	Hematological neoplasm	64135	IFIH1		orphadata	ORPHA:51
HP:0004377	Hematological neoplasm	25	ABL1		orphadata	ORPHA:521
HP:0004377	Hematological neoplasm	2178	FANCE		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	25788	RAD54B	-	mim2gene	OMIM:605027
HP:0004377	Hematological neoplasm	57697	FANCM		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	55159	RFWD3	question	mim2gene	OMIM:617784
HP:0004377	Hematological neoplasm	8028	MLLT10	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	5894	RAF1		orphadata	ORPHA:500
HP:0004377	Hematological neoplasm	673	BRAF		orphadata	ORPHA:500
HP:0004377	Hematological neoplasm	3981	LIG4		orphadata	ORPHA:235
HP:0004377	Hematological neoplasm	865	CBFB	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	641	BLM		orphadata	ORPHA:125
HP:0004377	Hematological neoplasm	7066	THPO		orphadata	ORPHA:71493
HP:0004377	Hematological neoplasm	79719	AAGAB		orphadata	ORPHA:79501
HP:0004377	Hematological neoplasm	811	CALR		orphadata	ORPHA:3318
HP:0004377	Hematological neoplasm	811	CALR		orphadata	ORPHA:824
HP:0004377	Hematological neoplasm	7133	TNFRSF1B		orphadata	ORPHA:3162
HP:0004377	Hematological neoplasm	4683	NBN	-	mim2gene	OMIM:613065
HP:0004377	Hematological neoplasm	3717	JAK2		orphadata	ORPHA:3318
HP:0004377	Hematological neoplasm	115650	TNFRSF13C		orphadata	ORPHA:1572
HP:0004377	Hematological neoplasm	1776	DNASE1L3		orphadata	ORPHA:36412
HP:0004377	Hematological neoplasm	6160	RPL31		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	2189	FANCG		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	3561	IL2RG		orphadata	ORPHA:39041
HP:0004377	Hematological neoplasm	4291	MLF1	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	5290	PIK3CA	-	mim2gene	OMIM:602501
HP:0004377	Hematological neoplasm	134218	DNAJC21	-	mim2gene	OMIM:617052
HP:0004377	Hematological neoplasm	1493	CTLA4		orphadata	ORPHA:2584
HP:0004377	Hematological neoplasm	940	CD28		orphadata	ORPHA:3162
HP:0004377	Hematological neoplasm	4860	PNP	-	mim2gene	OMIM:613179
HP:0004377	Hematological neoplasm	861	RUNX1		orphadata	ORPHA:521
HP:0004377	Hematological neoplasm	26040	SETBP1		orphadata	ORPHA:798
HP:0004377	Hematological neoplasm	10456	HAX1	-	mim2gene	OMIM:610738
HP:0004377	Hematological neoplasm	5426	POLE	-	mim2gene	OMIM:618336
HP:0004377	Hematological neoplasm	6231	RPS26		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	1380	CR2		orphadata	ORPHA:1572
HP:0004377	Hematological neoplasm	100	ADA	-	mim2gene	OMIM:102700
HP:0004377	Hematological neoplasm	6232	RPS27		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	7535	ZAP70		orphadata	ORPHA:911
HP:0004377	Hematological neoplasm	25	ABL1	-	mim2gene	OMIM:608232
HP:0004377	Hematological neoplasm	4683	NBN		orphadata	ORPHA:647
HP:0004377	Hematological neoplasm	3845	KRAS	-	mim2gene	OMIM:614470
HP:0004377	Hematological neoplasm	6210	RPS15A		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	162417	NAGS		orphadata	ORPHA:927
HP:0004377	Hematological neoplasm	930	CD19		orphadata	ORPHA:1572
HP:0004377	Hematological neoplasm	6135	RPL11		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	3492	IGH		orphadata	ORPHA:545
HP:0004377	Hematological neoplasm	27086	FOXP1		orphadata	ORPHA:52417
HP:0004377	Hematological neoplasm	701	BUB1B	-	mim2gene	OMIM:257300
HP:0004377	Hematological neoplasm	5896	RAG1		orphadata	ORPHA:39041
HP:0004377	Hematological neoplasm	1788	DNMT3A		orphadata	ORPHA:404443
HP:0004377	Hematological neoplasm	2956	MSH6	-	mim2gene	OMIM:276300
HP:0004377	Hematological neoplasm	2175	FANCA	-	mim2gene	OMIM:227650
HP:0004377	Hematological neoplasm	7012	TERC		orphadata	ORPHA:1775
HP:0004377	Hematological neoplasm	699	BUB1		orphadata	ORPHA:1052
HP:0004377	Hematological neoplasm	2322	FLT3	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	6886	TAL1	-	mim2gene	OMIM:613065
HP:0004377	Hematological neoplasm	9401	RECQL4		orphadata	ORPHA:1225
HP:0004377	Hematological neoplasm	5156	PDGFRA	-	mim2gene	OMIM:607685
HP:0004377	Hematological neoplasm	6729	SRP54		orphadata	ORPHA:486
HP:0004377	Hematological neoplasm	6235	RPS29		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	4173	MCM4	-	mim2gene	OMIM:609981
HP:0004377	Hematological neoplasm	2178	FANCE	-	mim2gene	OMIM:600901
HP:0004377	Hematological neoplasm	80169	CTC1		orphadata	ORPHA:1775
HP:0004377	Hematological neoplasm	2629	GBA	-	mim2gene	OMIM:230800
HP:0004377	Hematological neoplasm	1130	LYST		orphadata	ORPHA:167
HP:0004377	Hematological neoplasm	412	STS		orphadata	ORPHA:281090
HP:0004377	Hematological neoplasm	6455	SH3GL1	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	970	CD70	-	mim2gene	OMIM:618261
HP:0004377	Hematological neoplasm	4352	MPL	-	mim2gene	OMIM:254450
HP:0004377	Hematological neoplasm	2187	FANCB		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	10019	SH2B3	-	mim2gene	OMIM:254450
HP:0004377	Hematological neoplasm	79631	EFL1		orphadata	ORPHA:811
HP:0004377	Hematological neoplasm	84061	MAGT1	-	mim2gene	OMIM:300853
HP:0004377	Hematological neoplasm	5888	RAD51		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	23495	TNFRSF13B	-	mim2gene	OMIM:240500
HP:0004377	Hematological neoplasm	3492	IGH		orphadata	ORPHA:52416
HP:0004377	Hematological neoplasm	54209	TREM2		orphadata	ORPHA:2770
HP:0004377	Hematological neoplasm	6023	RMRP	-	mim2gene	OMIM:250250
HP:0004377	Hematological neoplasm	861	RUNX1	-	mim2gene	OMIM:601399
HP:0004377	Hematological neoplasm	2177	FANCD2		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	1493	CTLA4		orphadata	ORPHA:3162
HP:0004377	Hematological neoplasm	64421	DCLRE1C		orphadata	ORPHA:39041
HP:0004377	Hematological neoplasm	355	FAS		orphadata	ORPHA:3261
HP:0004377	Hematological neoplasm	29851	ICOS	-	mim2gene	OMIM:240500
HP:0004377	Hematological neoplasm	64324	NSD1	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	23476	BRD4		orphadata	ORPHA:443167
HP:0004377	Hematological neoplasm	54894	RNF43		orphadata	ORPHA:157798
HP:0004377	Hematological neoplasm	54888	NSUN2		orphadata	ORPHA:235
HP:0004377	Hematological neoplasm	331	XIAP	-	mim2gene	OMIM:308240
HP:0004377	Hematological neoplasm	3575	IL7R		orphadata	ORPHA:39041
HP:0004377	Hematological neoplasm	10019	SH2B3	-	mim2gene	OMIM:187950
HP:0004377	Hematological neoplasm	5914	RARA	-	mim2gene	OMIM:612376
HP:0004377	Hematological neoplasm	604	BCL6		orphadata	ORPHA:545
HP:0004377	Hematological neoplasm	2624	GATA2		orphadata	ORPHA:3226
HP:0004377	Hematological neoplasm	6731	SRP72	-	mim2gene	OMIM:614675
HP:0004377	Hematological neoplasm	472	ATM		orphadata	ORPHA:52416
HP:0004377	Hematological neoplasm	26511	CHIC2	susceptibility	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	3561	IL2RG		orphadata	ORPHA:276
HP:0004377	Hematological neoplasm	672	BRCA1		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	51750	RTEL1		orphadata	ORPHA:1775
HP:0004377	Hematological neoplasm	7015	TERT	susceptibility	mim2gene	OMIM:614742
HP:0004377	Hematological neoplasm	23092	ARHGAP26	-	mim2gene	OMIM:607785
HP:0004377	Hematological neoplasm	115650	TNFRSF13C	-	mim2gene	OMIM:240500
HP:0004377	Hematological neoplasm	6925	TCF4		orphadata	ORPHA:2896
HP:0004377	Hematological neoplasm	2121	EVC		orphadata	ORPHA:289
HP:0004377	Hematological neoplasm	6336	SCN10A		orphadata	ORPHA:90026
HP:0004377	Hematological neoplasm	2623	GATA1		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	79621	RNASEH2B		orphadata	ORPHA:51
HP:0004377	Hematological neoplasm	595	CCND1	susceptibility	mim2gene	OMIM:254500
HP:0004377	Hematological neoplasm	10019	SH2B3		orphadata	ORPHA:3318
HP:0004377	Hematological neoplasm	7516	XRCC2		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	930	CD19	-	mim2gene	OMIM:240500
HP:0004377	Hematological neoplasm	1380	CR2	-	mim2gene	OMIM:240500
HP:0004377	Hematological neoplasm	3717	JAK2	-	mim2gene	OMIM:254450
HP:0004377	Hematological neoplasm	6223	RPS19	-	mim2gene	OMIM:105650
HP:0004377	Hematological neoplasm	4352	MPL		orphadata	ORPHA:824
HP:0004377	Hematological neoplasm	675	BRCA2		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	6155	RPL27		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	2165	F13B		orphadata	ORPHA:331
HP:0004377	Hematological neoplasm	7454	WAS		orphadata	ORPHA:906
HP:0004377	Hematological neoplasm	7012	TERC	susceptibility	mim2gene	OMIM:614743
HP:0004377	Hematological neoplasm	8915	BCL10	susceptibility; somatic	mim2gene	OMIM:605027
HP:0004377	Hematological neoplasm	7157	TP53	-	mim2gene	OMIM:151623
HP:0004377	Hematological neoplasm	7373	COL14A1		orphadata	ORPHA:79501
HP:0004377	Hematological neoplasm	5580	PRKCD		orphadata	ORPHA:1572
HP:0004377	Hematological neoplasm	6229	RPS24		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	7015	TERT	susceptibility	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	4926	NUMA1	-	mim2gene	OMIM:612376
HP:0004377	Hematological neoplasm	8021	NUP214	-	mim2gene	OMIM:613065
HP:0004377	Hematological neoplasm	6125	RPL5		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	4068	SH2D1A	-	mim2gene	OMIM:308240
HP:0004377	Hematological neoplasm	595	CCND1		orphadata	ORPHA:52416
HP:0004377	Hematological neoplasm	54790	TET2		orphadata	ORPHA:729
HP:0004377	Hematological neoplasm	2956	MSH6		orphadata	ORPHA:587
HP:0004377	Hematological neoplasm	1080	CFTR		orphadata	ORPHA:64740
HP:0004377	Hematological neoplasm	939	CD27	-	mim2gene	OMIM:615122
HP:0004377	Hematological neoplasm	5238	PGM3		orphadata	ORPHA:443811
HP:0004377	Hematological neoplasm	2176	FANCC	-	mim2gene	OMIM:227645
HP:0004377	Hematological neoplasm	132884	EVC2		orphadata	ORPHA:289
HP:0004377	Hematological neoplasm	1050	CEBPA	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	675	BRCA2	-	mim2gene	OMIM:605724
HP:0004377	Hematological neoplasm	6925	TCF4		orphadata	ORPHA:2896
HP:0004377	Hematological neoplasm	55636	CHD7		orphadata	ORPHA:39041
HP:0004377	Hematological neoplasm	6335	SCN9A		orphadata	ORPHA:90026
HP:0004377	Hematological neoplasm	3492	IGH		orphadata	ORPHA:52417
HP:0004377	Hematological neoplasm	55120	FANCL		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	103	ADAR		orphadata	ORPHA:51
HP:0004377	Hematological neoplasm	641	BLM	-	mim2gene	OMIM:210900
HP:0004377	Hematological neoplasm	171023	ASXL1	-	mim2gene	OMIM:614286
HP:0004377	Hematological neoplasm	3123	HLA-DRB1		orphadata	ORPHA:545
HP:0004377	Hematological neoplasm	6208	RPS14	-	mim2gene	OMIM:153550
HP:0004377	Hematological neoplasm	84153	RNASEH2C		orphadata	ORPHA:51
HP:0004377	Hematological neoplasm	11280	SCN11A		orphadata	ORPHA:90026
HP:0004377	Hematological neoplasm	6603	SMARCD2	-	mim2gene	OMIM:617475
HP:0004377	Hematological neoplasm	2624	GATA2	-	mim2gene	OMIM:614038
HP:0004377	Hematological neoplasm	11224	RPL35		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	55135	WRAP53		orphadata	ORPHA:1775
HP:0004377	Hematological neoplasm	54790	TET2	-	mim2gene	OMIM:614286
HP:0004377	Hematological neoplasm	5159	PDGFRB	-	mim2gene	OMIM:131440
HP:0004377	Hematological neoplasm	3845	KRAS	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	10535	RNASEH2A		orphadata	ORPHA:51
HP:0004377	Hematological neoplasm	54790	TET2		orphadata	ORPHA:3318
HP:0004377	Hematological neoplasm	26277	TINF2		orphadata	ORPHA:1775
HP:0004377	Hematological neoplasm	6729	SRP54		orphadata	ORPHA:811
HP:0004377	Hematological neoplasm	134218	DNAJC21	-	mim2gene	OMIM:260400
HP:0004377	Hematological neoplasm	355	FAS		orphadata	ORPHA:3261
HP:0004377	Hematological neoplasm	1736	DKC1	-	mim2gene	OMIM:305000
HP:0004377	Hematological neoplasm	861	RUNX1	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	324	APC		orphadata	ORPHA:99818
HP:0004377	Hematological neoplasm	3981	LIG4	-	mim2gene	OMIM:606593
HP:0004377	Hematological neoplasm	975	CD81		orphadata	ORPHA:1572
HP:0004377	Hematological neoplasm	9401	RECQL4		orphadata	ORPHA:221016
HP:0004377	Hematological neoplasm	940	CD28		orphadata	ORPHA:2584
HP:0004377	Hematological neoplasm	1736	DKC1		orphadata	ORPHA:1775
HP:0004377	Hematological neoplasm	23218	NBEAL2		orphadata	ORPHA:721
HP:0004377	Hematological neoplasm	5897	RAG2		orphadata	ORPHA:39041
HP:0004377	Hematological neoplasm	4292	MLH1	-	mim2gene	OMIM:276300
HP:0004377	Hematological neoplasm	6223	RPS19		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	1991	ELANE		orphadata	ORPHA:486
HP:0004377	Hematological neoplasm	219285	SAMD9L	-	mim2gene	OMIM:159550
HP:0004377	Hematological neoplasm	4790	NFKB1		orphadata	ORPHA:1572
HP:0004377	Hematological neoplasm	5395	PMS2	-	mim2gene	OMIM:276300
HP:0004377	Hematological neoplasm	171023	ASXL1		orphadata	ORPHA:98849
HP:0004377	Hematological neoplasm	2176	FANCC		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	90121	TSR2		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	5551	PRF1	-	mim2gene	OMIM:605027
HP:0004377	Hematological neoplasm	5728	PTEN		orphadata	ORPHA:109
HP:0004377	Hematological neoplasm	10892	MALT1		orphadata	ORPHA:52417
HP:0004377	Hematological neoplasm	8438	RAD54L	-	mim2gene	OMIM:605027
HP:0004377	Hematological neoplasm	83990	BRIP1		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	2672	GFI1	question	mim2gene	OMIM:607847
HP:0004377	Hematological neoplasm	6427	SRSF2		orphadata	ORPHA:98849
HP:0004377	Hematological neoplasm	8742	TNFSF12		orphadata	ORPHA:1572
HP:0004377	Hematological neoplasm	6774	STAT3		orphadata	ORPHA:2314
HP:0004377	Hematological neoplasm	100	ADA		orphadata	ORPHA:39041
HP:0004377	Hematological neoplasm	6218	RPS17		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	2322	FLT3	-	mim2gene	OMIM:613065
HP:0004377	Hematological neoplasm	356	FASLG		orphadata	ORPHA:3261
HP:0004377	Hematological neoplasm	5295	PIK3R1	-	mim2gene	OMIM:616005
HP:0004377	Hematological neoplasm	3845	KRAS	-	mim2gene	OMIM:609942
HP:0004377	Hematological neoplasm	9702	CEP57		orphadata	ORPHA:1052
HP:0004377	Hematological neoplasm	8301	PICALM	-	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	1387	CREBBP	-	mim2gene	OMIM:180849
HP:0004377	Hematological neoplasm	2624	GATA2	susceptibility	mim2gene	OMIM:601626
HP:0004377	Hematological neoplasm	7157	TP53		orphadata	ORPHA:524
HP:0004377	Hematological neoplasm	11330	CTRC		orphadata	ORPHA:64740
HP:0004377	Hematological neoplasm	4615	MYD88	-	mim2gene	OMIM:153600
HP:0004377	Hematological neoplasm	54790	TET2		orphadata	ORPHA:75564
HP:0004377	Hematological neoplasm	6234	RPS28		orphadata	ORPHA:124
HP:0004377	Hematological neoplasm	5889	RAD51C		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	5925	RB1	-	mim2gene	OMIM:180200
HP:0004377	Hematological neoplasm	29089	UBE2T		orphadata	ORPHA:84
HP:0004377	Hematological neoplasm	6023	RMRP		orphadata	ORPHA:39041
HP:0004377	Hematological neoplasm	6690	SPINK1		orphadata	ORPHA:64740
HP:0004377	Hematological neoplasm	7015	TERT		orphadata	ORPHA:1775
HP:0004377	Hematological neoplasm	200942	KLHDC8B	susceptibility	mim2gene	OMIM:236000
HP:0004377	Hematological neoplasm	2623	GATA1	-	mim2gene	OMIM:190685
HP:0004377	Hematological neoplasm	3717	JAK2		orphadata	ORPHA:729
HP:0004377	Hematological neoplasm	25939	SAMHD1		orphadata	ORPHA:51
HP:0004377	Hematological neoplasm	399	RHOH	susceptibility; question	mim2gene	OMIM:618307
HP:0004378	Abnormality of the anus	1294	COL7A1		orphadata	ORPHA:79409
HP:0004378	Abnormality of the anus	51339	DACT1	question	mim2gene	OMIM:617466
HP:0004378	Abnormality of the anus	79659	DYNC2H1	-	mim2gene	OMIM:613091
HP:0004378	Abnormality of the anus	4281	MID1	-	mim2gene	OMIM:300000
HP:0004378	Abnormality of the anus	197131	UBR1	-	mim2gene	OMIM:243800
HP:0004378	Abnormality of the anus	79633	FAT4		orphadata	ORPHA:314679
HP:0004378	Abnormality of the anus	931	MS4A1		orphadata	ORPHA:1572
HP:0004378	Abnormality of the anus	9401	RECQL4	-	mim2gene	OMIM:268400
HP:0004378	Abnormality of the anus	8195	MKKS	-	mim2gene	OMIM:236700
HP:0004378	Abnormality of the anus	4791	NFKB2		orphadata	ORPHA:1572
HP:0004378	Abnormality of the anus	57539	WDR35		orphadata	ORPHA:93271
HP:0004378	Abnormality of the anus	9968	MED12		orphadata	ORPHA:93932
HP:0004378	Abnormality of the anus	64359	NXN		orphadata	ORPHA:1507
HP:0004378	Abnormality of the anus	2187	FANCB		orphadata	ORPHA:3412
HP:0004378	Abnormality of the anus	80144	FRAS1		orphadata	ORPHA:2052
HP:0004378	Abnormality of the anus	55159	RFWD3		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	9897	WASHC5		orphadata	ORPHA:7
HP:0004378	Abnormality of the anus	473	RERE		orphadata	ORPHA:1606
HP:0004378	Abnormality of the anus	51339	DACT1		orphadata	ORPHA:857
HP:0004378	Abnormality of the anus	6299	SALL1		orphadata	ORPHA:857
HP:0004378	Abnormality of the anus	2296	FOXC1		orphadata	ORPHA:782
HP:0004378	Abnormality of the anus	2263	FGFR2	-	mim2gene	OMIM:101200
HP:0004378	Abnormality of the anus	1822	ATN1	-	mim2gene	OMIM:618494
HP:0004378	Abnormality of the anus	26123	TCTN3		orphadata	ORPHA:2753
HP:0004378	Abnormality of the anus	488	ATP2A2		orphadata	ORPHA:218
HP:0004378	Abnormality of the anus	6899	TBX1		orphadata	ORPHA:567
HP:0004378	Abnormality of the anus	26005	C2CD3	-	mim2gene	OMIM:615948
HP:0004378	Abnormality of the anus	2263	FGFR2	-	mim2gene	OMIM:123790
HP:0004378	Abnormality of the anus	57167	SALL4	-	mim2gene	OMIM:607323
HP:0004378	Abnormality of the anus	2072	ERCC4		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	55215	FANCI		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	8195	MKKS		orphadata	ORPHA:2473
HP:0004378	Abnormality of the anus	1857	DVL3	-	mim2gene	OMIM:616894
HP:0004378	Abnormality of the anus	57167	SALL4	-	mim2gene	OMIM:147750
HP:0004378	Abnormality of the anus	117581	TWIST2	-	mim2gene	OMIM:227260
HP:0004378	Abnormality of the anus	374654	KIF7	-	mim2gene	OMIM:200990
HP:0004378	Abnormality of the anus	4683	NBN	-	mim2gene	OMIM:251260
HP:0004378	Abnormality of the anus	81839	VANGL1		orphadata	ORPHA:3027
HP:0004378	Abnormality of the anus	3670	ISL1		orphadata	ORPHA:93930
HP:0004378	Abnormality of the anus	10459	MAD2L2		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	1294	COL7A1		orphadata	ORPHA:79408
HP:0004378	Abnormality of the anus	29851	ICOS		orphadata	ORPHA:1572
HP:0004378	Abnormality of the anus	8742	TNFSF12		orphadata	ORPHA:1572
HP:0004378	Abnormality of the anus	5308	PITX2		orphadata	ORPHA:782
HP:0004378	Abnormality of the anus	2737	GLI3		orphadata	ORPHA:672
HP:0004378	Abnormality of the anus	2188	FANCF		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	55650	PIGV		orphadata	ORPHA:247262
HP:0004378	Abnormality of the anus	84992	PIGY		orphadata	ORPHA:247262
HP:0004378	Abnormality of the anus	27152	INTU	question	mim2gene	OMIM:617925
HP:0004378	Abnormality of the anus	3239	HOXD13		orphadata	ORPHA:887
HP:0004378	Abnormality of the anus	2175	FANCA		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	25	ABL1	-	mim2gene	OMIM:617602
HP:0004378	Abnormality of the anus	139285	AMER1	-	mim2gene	OMIM:300373
HP:0004378	Abnormality of the anus	9791	PTDSS1	-	mim2gene	OMIM:151050
HP:0004378	Abnormality of the anus	84464	SLX4		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	5308	PITX2		orphadata	ORPHA:782
HP:0004378	Abnormality of the anus	64840	PORCN	-	mim2gene	OMIM:305600
HP:0004378	Abnormality of the anus	7290	HIRA		orphadata	ORPHA:567
HP:0004378	Abnormality of the anus	145173	B3GLCT		orphadata	ORPHA:709
HP:0004378	Abnormality of the anus	55112	WDR60		orphadata	ORPHA:93271
HP:0004378	Abnormality of the anus	23495	TNFRSF13B		orphadata	ORPHA:1572
HP:0004378	Abnormality of the anus	7403	KDM6A	-	mim2gene	OMIM:147920
HP:0004378	Abnormality of the anus	54903	MKS1	-	mim2gene	OMIM:249000
HP:0004378	Abnormality of the anus	4920	ROR2		orphadata	ORPHA:1507
HP:0004378	Abnormality of the anus	27315	PGAP2		orphadata	ORPHA:247262
HP:0004378	Abnormality of the anus	9215	LARGE1	-	mim2gene	OMIM:236670
HP:0004378	Abnormality of the anus	81704	DOCK8		orphadata	ORPHA:217390
HP:0004378	Abnormality of the anus	3587	IL10RA	-	mim2gene	OMIM:613148
HP:0004378	Abnormality of the anus	2137	EXTL3	-	mim2gene	OMIM:617425
HP:0004378	Abnormality of the anus	8085	KMT2D	-	mim2gene	OMIM:147920
HP:0004378	Abnormality of the anus	284098	PIGW		orphadata	ORPHA:247262
HP:0004378	Abnormality of the anus	79728	PALB2		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	55012	PPP2R3C	-	mim2gene	OMIM:618419
HP:0004378	Abnormality of the anus	2178	FANCE		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	57697	FANCM		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	3052	HCCS	-	mim2gene	OMIM:309801
HP:0004378	Abnormality of the anus	6628	SNRPB	-	mim2gene	OMIM:117650
HP:0004378	Abnormality of the anus	6608	SMO	-	mim2gene	OMIM:601707
HP:0004378	Abnormality of the anus	23065	EMC1	-	mim2gene	OMIM:616875
HP:0004378	Abnormality of the anus	3981	LIG4		orphadata	ORPHA:235
HP:0004378	Abnormality of the anus	421	ARVCF		orphadata	ORPHA:567
HP:0004378	Abnormality of the anus	5888	RAD51	question	mim2gene	OMIM:617244
HP:0004378	Abnormality of the anus	115650	TNFRSF13C		orphadata	ORPHA:1572
HP:0004378	Abnormality of the anus	145173	B3GLCT	-	mim2gene	OMIM:261540
HP:0004378	Abnormality of the anus	3052	HCCS		orphadata	ORPHA:2556
HP:0004378	Abnormality of the anus	9632	SEC24C		orphadata	ORPHA:567
HP:0004378	Abnormality of the anus	3588	IL10RB	-	mim2gene	OMIM:612567
HP:0004378	Abnormality of the anus	2189	FANCG		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	51733	UPB1	-	mim2gene	OMIM:613161
HP:0004378	Abnormality of the anus	55650	PIGV	-	mim2gene	OMIM:239300
HP:0004378	Abnormality of the anus	4222	MEOX1		orphadata	ORPHA:2345
HP:0004378	Abnormality of the anus	26040	SETBP1		orphadata	ORPHA:798
HP:0004378	Abnormality of the anus	23556	PIGN		orphadata	ORPHA:2059
HP:0004378	Abnormality of the anus	1380	CR2		orphadata	ORPHA:1572
HP:0004378	Abnormality of the anus	2313	FLI1		orphadata	ORPHA:2308
HP:0004378	Abnormality of the anus	1294	COL7A1		orphadata	ORPHA:89842
HP:0004378	Abnormality of the anus	221037	JMJD1C		orphadata	ORPHA:567
HP:0004378	Abnormality of the anus	9968	MED12	-	mim2gene	OMIM:305450
HP:0004378	Abnormality of the anus	4312	MMP1		orphadata	ORPHA:79408
HP:0004378	Abnormality of the anus	23556	PIGN	-	mim2gene	OMIM:614080
HP:0004378	Abnormality of the anus	1312	COMT		orphadata	ORPHA:567
HP:0004378	Abnormality of the anus	7353	UFD1		orphadata	ORPHA:567
HP:0004378	Abnormality of the anus	7547	ZIC3	-	mim2gene	OMIM:314390
HP:0004378	Abnormality of the anus	6497	SKI		orphadata	ORPHA:1606
HP:0004378	Abnormality of the anus	8260	NAA10	question	mim2gene	OMIM:309800
HP:0004378	Abnormality of the anus	4683	NBN		orphadata	ORPHA:647
HP:0004378	Abnormality of the anus	79659	DYNC2H1		orphadata	ORPHA:93271
HP:0004378	Abnormality of the anus	9361	LONP1	-	mim2gene	OMIM:600373
HP:0004378	Abnormality of the anus	930	CD19		orphadata	ORPHA:1572
HP:0004378	Abnormality of the anus	57167	SALL4		orphadata	ORPHA:2307
HP:0004378	Abnormality of the anus	37	ACADVL		orphadata	ORPHA:26793
HP:0004378	Abnormality of the anus	8318	CDC45	-	mim2gene	OMIM:617063
HP:0004378	Abnormality of the anus	92002	CCNQ	-	mim2gene	OMIM:300707
HP:0004378	Abnormality of the anus	80199	FUZ		orphadata	ORPHA:3027
HP:0004378	Abnormality of the anus	23384	SPECC1L	-	mim2gene	OMIM:145410
HP:0004378	Abnormality of the anus	9897	WASHC5	-	mim2gene	OMIM:220210
HP:0004378	Abnormality of the anus	63976	PRDM16		orphadata	ORPHA:1606
HP:0004378	Abnormality of the anus	158326	FREM1		orphadata	ORPHA:2717
HP:0004378	Abnormality of the anus	9401	RECQL4		orphadata	ORPHA:1225
HP:0004378	Abnormality of the anus	2263	FGFR2		orphadata	ORPHA:87
HP:0004378	Abnormality of the anus	3110	MNX1	-	mim2gene	OMIM:176450
HP:0004378	Abnormality of the anus	9487	PIGL		orphadata	ORPHA:247262
HP:0004378	Abnormality of the anus	51339	DACT1		orphadata	ORPHA:63260
HP:0004378	Abnormality of the anus	2187	FANCB		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	8642	DCHS1	-	mim2gene	OMIM:601390
HP:0004378	Abnormality of the anus	6926	TBX3	-	mim2gene	OMIM:181450
HP:0004378	Abnormality of the anus	5888	RAD51		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	158326	FREM1		orphadata	ORPHA:217266
HP:0004378	Abnormality of the anus	2563	GABRD		orphadata	ORPHA:1606
HP:0004378	Abnormality of the anus	158326	FREM1	-	mim2gene	OMIM:608980
HP:0004378	Abnormality of the anus	2812	GP1BB		orphadata	ORPHA:567
HP:0004378	Abnormality of the anus	84720	PIGO	-	mim2gene	OMIM:614749
HP:0004378	Abnormality of the anus	2177	FANCD2		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	29957	SLC25A24	-	mim2gene	OMIM:612289
HP:0004378	Abnormality of the anus	153241	CEP120	-	mim2gene	OMIM:616300
HP:0004378	Abnormality of the anus	1009	CDH11		orphadata	ORPHA:1299
HP:0004378	Abnormality of the anus	54880	BCOR	-	mim2gene	OMIM:309800
HP:0004378	Abnormality of the anus	117581	TWIST2		orphadata	ORPHA:1807
HP:0004378	Abnormality of the anus	54888	NSUN2		orphadata	ORPHA:235
HP:0004378	Abnormality of the anus	84720	PIGO		orphadata	ORPHA:247262
HP:0004378	Abnormality of the anus	10225	CD96		orphadata	ORPHA:1308
HP:0004378	Abnormality of the anus	92002	CCNQ		orphadata	ORPHA:140952
HP:0004378	Abnormality of the anus	5644	PRSS1	-	mim2gene	OMIM:614044
HP:0004378	Abnormality of the anus	55636	CHD7	-	mim2gene	OMIM:214800
HP:0004378	Abnormality of the anus	6926	TBX3		orphadata	ORPHA:3138
HP:0004378	Abnormality of the anus	9723	SEMA3E	question	mim2gene	OMIM:214800
HP:0004378	Abnormality of the anus	1108	CHD4	-	mim2gene	OMIM:617159
HP:0004378	Abnormality of the anus	222546	RFX6	-	mim2gene	OMIM:615710
HP:0004378	Abnormality of the anus	672	BRCA1		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	7547	ZIC3	-	mim2gene	OMIM:306955
HP:0004378	Abnormality of the anus	8642	DCHS1		orphadata	ORPHA:314679
HP:0004378	Abnormality of the anus	1131	CHRM3		orphadata	ORPHA:2970
HP:0004378	Abnormality of the anus	10084	PQBP1	-	mim2gene	OMIM:309500
HP:0004378	Abnormality of the anus	29954	POMT2	-	mim2gene	OMIM:236670
HP:0004378	Abnormality of the anus	2263	FGFR2		orphadata	ORPHA:93260
HP:0004378	Abnormality of the anus	1500	CTNND1		orphadata	ORPHA:1997
HP:0004378	Abnormality of the anus	7516	XRCC2		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	675	BRCA2		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	10653	SPINT2	-	mim2gene	OMIM:270420
HP:0004378	Abnormality of the anus	54101	RIPK4	-	mim2gene	OMIM:263650
HP:0004378	Abnormality of the anus	1349	COX7B		orphadata	ORPHA:2556
HP:0004378	Abnormality of the anus	2218	FKTN	-	mim2gene	OMIM:236670
HP:0004378	Abnormality of the anus	1807	DPYS	-	mim2gene	OMIM:222748
HP:0004378	Abnormality of the anus	1131	CHRM3	question	mim2gene	OMIM:100100
HP:0004378	Abnormality of the anus	57560	IFT80		orphadata	ORPHA:93271
HP:0004378	Abnormality of the anus	999	CDH1		orphadata	ORPHA:1997
HP:0004378	Abnormality of the anus	93210	PGAP3		orphadata	ORPHA:247262
HP:0004378	Abnormality of the anus	23556	PIGN		orphadata	ORPHA:280633
HP:0004378	Abnormality of the anus	5308	PITX2	-	mim2gene	OMIM:180500
HP:0004378	Abnormality of the anus	5580	PRKCD		orphadata	ORPHA:1572
HP:0004378	Abnormality of the anus	7476	WNT7A		orphadata	ORPHA:2879
HP:0004378	Abnormality of the anus	999	CDH1	-	mim2gene	OMIM:119580
HP:0004378	Abnormality of the anus	197131	UBR1		orphadata	ORPHA:2315
HP:0004378	Abnormality of the anus	675	BRCA2	-	mim2gene	OMIM:605724
HP:0004378	Abnormality of the anus	55120	FANCL		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	7473	WNT3	question	mim2gene	OMIM:273395
HP:0004378	Abnormality of the anus	2294	FOXF1		orphadata	ORPHA:210122
HP:0004378	Abnormality of the anus	6239	RREB1		orphadata	ORPHA:567
HP:0004378	Abnormality of the anus	8626	TP63		orphadata	ORPHA:93930
HP:0004378	Abnormality of the anus	10585	POMT1	-	mim2gene	OMIM:236670
HP:0004378	Abnormality of the anus	392255	GDF6		orphadata	ORPHA:2345
HP:0004378	Abnormality of the anus	3313	HSPA9	-	mim2gene	OMIM:616854
HP:0004378	Abnormality of the anus	5889	RAD51C	-	mim2gene	OMIM:613390
HP:0004378	Abnormality of the anus	28952	CCDC22		orphadata	ORPHA:7
HP:0004378	Abnormality of the anus	80144	FRAS1	-	mim2gene	OMIM:219000
HP:0004378	Abnormality of the anus	1736	DKC1	-	mim2gene	OMIM:305000
HP:0004378	Abnormality of the anus	9573	GDF3		orphadata	ORPHA:2345
HP:0004378	Abnormality of the anus	975	CD81		orphadata	ORPHA:1572
HP:0004378	Abnormality of the anus	341640	FREM2		orphadata	ORPHA:2052
HP:0004378	Abnormality of the anus	8239	USP9X	-	mim2gene	OMIM:300968
HP:0004378	Abnormality of the anus	1349	COX7B	-	mim2gene	OMIM:309801
HP:0004378	Abnormality of the anus	79147	FKRP	-	mim2gene	OMIM:236670
HP:0004378	Abnormality of the anus	2737	GLI3	-	mim2gene	OMIM:146510
HP:0004378	Abnormality of the anus	2263	FGFR2		orphadata	ORPHA:93259
HP:0004378	Abnormality of the anus	23426	GRIP1		orphadata	ORPHA:2052
HP:0004378	Abnormality of the anus	8239	USP9X		orphadata	ORPHA:480880
HP:0004378	Abnormality of the anus	4790	NFKB1		orphadata	ORPHA:1572
HP:0004378	Abnormality of the anus	7473	WNT3		orphadata	ORPHA:3301
HP:0004378	Abnormality of the anus	340419	RSPO2		orphadata	ORPHA:3301
HP:0004378	Abnormality of the anus	2176	FANCC		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	158326	FREM1	-	mim2gene	OMIM:248450
HP:0004378	Abnormality of the anus	6299	SALL1	-	mim2gene	OMIM:107480
HP:0004378	Abnormality of the anus	2187	FANCB	-	mim2gene	OMIM:314390
HP:0004378	Abnormality of the anus	83990	BRIP1		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	55120	FANCL	-	mim2gene	OMIM:614083
HP:0004378	Abnormality of the anus	89891	WDR34		orphadata	ORPHA:93271
HP:0004378	Abnormality of the anus	54539	NDUFB11		orphadata	ORPHA:2556
HP:0004378	Abnormality of the anus	54539	NDUFB11	-	mim2gene	OMIM:309801
HP:0004378	Abnormality of the anus	8742	TNFSF12		orphadata	ORPHA:1572
HP:0004378	Abnormality of the anus	2263	FGFR2		orphadata	ORPHA:1555
HP:0004378	Abnormality of the anus	55612	FERMT1		orphadata	ORPHA:2908
HP:0004378	Abnormality of the anus	8514	KCNAB2		orphadata	ORPHA:1606
HP:0004378	Abnormality of the anus	9401	RECQL4	-	mim2gene	OMIM:218600
HP:0004378	Abnormality of the anus	1009	CDH11	-	mim2gene	OMIM:211380
HP:0004378	Abnormality of the anus	6899	TBX1		orphadata	ORPHA:567
HP:0004378	Abnormality of the anus	5889	RAD51C		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	7291	TWIST1	-	mim2gene	OMIM:617746
HP:0004378	Abnormality of the anus	29089	UBE2T		orphadata	ORPHA:84
HP:0004378	Abnormality of the anus	2623	GATA1	-	mim2gene	OMIM:190685
HP:0004379	Abnormality of alkaline phosphatase activity	11200	CHEK2		orphadata	ORPHA:668
HP:0004379	Abnormality of alkaline phosphatase activity	93210	PGAP3		orphadata	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase activity	57003	CCDC47	-	mim2gene	OMIM:618268
HP:0004379	Abnormality of alkaline phosphatase activity	50964	SOST	-	mim2gene	OMIM:122860
HP:0004379	Abnormality of alkaline phosphatase activity	10312	TCIRG1	-	mim2gene	OMIM:259700
HP:0004379	Abnormality of alkaline phosphatase activity	120227	CYP2R1		orphadata	ORPHA:289157
HP:0004379	Abnormality of alkaline phosphatase activity	50964	SOST	-	mim2gene	OMIM:239100
HP:0004379	Abnormality of alkaline phosphatase activity	84317	CCDC115	-	mim2gene	OMIM:616828
HP:0004379	Abnormality of alkaline phosphatase activity	5244	ABCB4	-	mim2gene	OMIM:600803
HP:0004379	Abnormality of alkaline phosphatase activity	7415	VCP		orphadata	ORPHA:329475
HP:0004379	Abnormality of alkaline phosphatase activity	57592	ZNF687	-	mim2gene	OMIM:616833
HP:0004379	Abnormality of alkaline phosphatase activity	3178	HNRNPA1	-	mim2gene	OMIM:615426
HP:0004379	Abnormality of alkaline phosphatase activity	56975	FAM20C	-	mim2gene	OMIM:259775
HP:0004379	Abnormality of alkaline phosphatase activity	6569	SLC34A1	question	mim2gene	OMIM:613388
HP:0004379	Abnormality of alkaline phosphatase activity	27315	PGAP2	-	mim2gene	OMIM:614207
HP:0004379	Abnormality of alkaline phosphatase activity	27315	PGAP2		orphadata	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase activity	3172	HNF4A		orphadata	ORPHA:263455
HP:0004379	Abnormality of alkaline phosphatase activity	25839	COG4		orphadata	ORPHA:263501
HP:0004379	Abnormality of alkaline phosphatase activity	5450	POU2AF1		orphadata	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase activity	3930	LBR	question	mim2gene	OMIM:613471
HP:0004379	Abnormality of alkaline phosphatase activity	249	ALPL	-	mim2gene	OMIM:241510
HP:0004379	Abnormality of alkaline phosphatase activity	166929	SGMS2	-	mim2gene	OMIM:126550
HP:0004379	Abnormality of alkaline phosphatase activity	284098	PIGW		orphadata	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase activity	8792	TNFRSF11A	susceptibility	mim2gene	OMIM:602080
HP:0004379	Abnormality of alkaline phosphatase activity	7415	VCP	-	mim2gene	OMIM:167320
HP:0004379	Abnormality of alkaline phosphatase activity	5167	ENPP1		orphadata	ORPHA:289176
HP:0004379	Abnormality of alkaline phosphatase activity	7157	TP53		orphadata	ORPHA:668
HP:0004379	Abnormality of alkaline phosphatase activity	1594	CYP27B1	-	mim2gene	OMIM:264700
HP:0004379	Abnormality of alkaline phosphatase activity	23387	SIK3	question	mim2gene	OMIM:618162
HP:0004379	Abnormality of alkaline phosphatase activity	1594	CYP27B1		orphadata	ORPHA:289157
HP:0004379	Abnormality of alkaline phosphatase activity	93210	PGAP3	-	mim2gene	OMIM:615716
HP:0004379	Abnormality of alkaline phosphatase activity	5277	PIGA	-	mim2gene	OMIM:300868
HP:0004379	Abnormality of alkaline phosphatase activity	6925	TCF4		orphadata	ORPHA:171
HP:0004379	Abnormality of alkaline phosphatase activity	9487	PIGL		orphadata	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase activity	94005	PIGS	-	mim2gene	OMIM:618143
HP:0004379	Abnormality of alkaline phosphatase activity	5251	PHEX	-	mim2gene	OMIM:307800
HP:0004379	Abnormality of alkaline phosphatase activity	7421	VDR	-	mim2gene	OMIM:277440
HP:0004379	Abnormality of alkaline phosphatase activity	25839	COG4	-	mim2gene	OMIM:613489
HP:0004379	Abnormality of alkaline phosphatase activity	1758	DMP1		orphadata	ORPHA:289176
HP:0004379	Abnormality of alkaline phosphatase activity	3592	IL12A		orphadata	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase activity	5745	PTH1R	-	mim2gene	OMIM:156400
HP:0004379	Abnormality of alkaline phosphatase activity	7157	TP53		orphadata	ORPHA:668
HP:0004379	Abnormality of alkaline phosphatase activity	4982	TNFRSF11B	-	mim2gene	OMIM:239000
HP:0004379	Abnormality of alkaline phosphatase activity	6928	HNF1B	-	mim2gene	OMIM:137920
HP:0004379	Abnormality of alkaline phosphatase activity	1053	CEBPE	-	mim2gene	OMIM:245480
HP:0004379	Abnormality of alkaline phosphatase activity	84720	PIGO	-	mim2gene	OMIM:614749
HP:0004379	Abnormality of alkaline phosphatase activity	249	ALPL	-	mim2gene	OMIM:146300
HP:0004379	Abnormality of alkaline phosphatase activity	147007	TMEM199	-	mim2gene	OMIM:616829
HP:0004379	Abnormality of alkaline phosphatase activity	1186	CLCN7		orphadata	ORPHA:210110
HP:0004379	Abnormality of alkaline phosphatase activity	6689	SPIB		orphadata	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase activity	2099	ESR1		orphadata	ORPHA:785
HP:0004379	Abnormality of alkaline phosphatase activity	9842	PLEKHM1		orphadata	ORPHA:210110
HP:0004379	Abnormality of alkaline phosphatase activity	84992	PIGY	-	mim2gene	OMIM:616809
HP:0004379	Abnormality of alkaline phosphatase activity	84720	PIGO		orphadata	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase activity	3178	HNRNPA1		orphadata	ORPHA:52430
HP:0004379	Abnormality of alkaline phosphatase activity	4485	MST1		orphadata	ORPHA:171
HP:0004379	Abnormality of alkaline phosphatase activity	8792	TNFRSF11A	-	mim2gene	OMIM:174810
HP:0004379	Abnormality of alkaline phosphatase activity	6309	SC5D	-	mim2gene	OMIM:607330
HP:0004379	Abnormality of alkaline phosphatase activity	55650	PIGV	-	mim2gene	OMIM:239300
HP:0004379	Abnormality of alkaline phosphatase activity	5589	PRKCSH	-	mim2gene	OMIM:174050
HP:0004379	Abnormality of alkaline phosphatase activity	142680	SLC34A3	-	mim2gene	OMIM:241530
HP:0004379	Abnormality of alkaline phosphatase activity	8074	FGF23	-	mim2gene	OMIM:193100
HP:0004379	Abnormality of alkaline phosphatase activity	284098	PIGW	-	mim2gene	OMIM:616025
HP:0004379	Abnormality of alkaline phosphatase activity	5925	RB1		orphadata	ORPHA:668
HP:0004379	Abnormality of alkaline phosphatase activity	2817	GPC1		orphadata	ORPHA:30391
HP:0004379	Abnormality of alkaline phosphatase activity	10312	TCIRG1		orphadata	ORPHA:210110
HP:0004379	Abnormality of alkaline phosphatase activity	60681	FKBP10	-	mim2gene	OMIM:610968
HP:0004379	Abnormality of alkaline phosphatase activity	6514	SLC2A2	-	mim2gene	OMIM:227810
HP:0004379	Abnormality of alkaline phosphatase activity	55503	TRPV6	-	mim2gene	OMIM:618188
HP:0004379	Abnormality of alkaline phosphatase activity	9966	TNFSF15		orphadata	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase activity	8647	ABCB11	-	mim2gene	OMIM:605479
HP:0004379	Abnormality of alkaline phosphatase activity	8647	ABCB11	-	mim2gene	OMIM:601847
HP:0004379	Abnormality of alkaline phosphatase activity	63916	ELMO2	-	mim2gene	OMIM:606893
HP:0004379	Abnormality of alkaline phosphatase activity	3594	IL12RB1		orphadata	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase activity	3663	IRF5		orphadata	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase activity	8878	SQSTM1	-	mim2gene	OMIM:167250
HP:0004379	Abnormality of alkaline phosphatase activity	7415	VCP		orphadata	ORPHA:52430
HP:0004379	Abnormality of alkaline phosphatase activity	79258	MMEL1		orphadata	ORPHA:186
HP:0004379	Abnormality of alkaline phosphatase activity	55650	PIGV		orphadata	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase activity	10165	SLC25A13		orphadata	ORPHA:247598
HP:0004379	Abnormality of alkaline phosphatase activity	25	ABL1	-	mim2gene	OMIM:608232
HP:0004379	Abnormality of alkaline phosphatase activity	84992	PIGY		orphadata	ORPHA:247262
HP:0004379	Abnormality of alkaline phosphatase activity	55630	SLC39A4	-	mim2gene	OMIM:201100
HP:0004379	Abnormality of alkaline phosphatase activity	3181	HNRNPA2B1		orphadata	ORPHA:52430
HP:0004379	Abnormality of alkaline phosphatase activity	613	BCR	-	mim2gene	OMIM:608232
HP:0004379	Abnormality of alkaline phosphatase activity	2859	GPR35		orphadata	ORPHA:171
HP:0004379	Abnormality of alkaline phosphatase activity	6718	AKR1D1	-	mim2gene	OMIM:235555
HP:0004379	Abnormality of alkaline phosphatase activity	9420	CYP7B1	-	mim2gene	OMIM:613812
HP:0004379	Abnormality of alkaline phosphatase activity	120227	CYP2R1	-	mim2gene	OMIM:600081
HP:0004379	Abnormality of alkaline phosphatase activity	3178	HNRNPA1	question	mim2gene	OMIM:615424
HP:0004379	Abnormality of alkaline phosphatase activity	23534	TNPO3		orphadata	ORPHA:186
HP:0004380	Aortic valve calcification	3081	HGD	-	mim2gene	OMIM:203500
HP:0004380	Aortic valve calcification	2629	GBA	-	mim2gene	OMIM:231005
HP:0004380	Aortic valve calcification	64135	IFIH1	-	mim2gene	OMIM:182250
HP:0004380	Aortic valve calcification	2629	GBA		orphadata	ORPHA:2072
HP:0004380	Aortic valve calcification	4851	NOTCH1		orphadata	ORPHA:402075
HP:0004380	Aortic valve calcification	4000	LMNA		orphadata	ORPHA:79474
HP:0004380	Aortic valve calcification	3081	HGD		orphadata	ORPHA:56
HP:0004380	Aortic valve calcification	2629	GBA		orphadata	ORPHA:77261
HP:0004380	Aortic valve calcification	1482	NKX2-5		orphadata	ORPHA:402075
HP:0004380	Aortic valve calcification	140628	GATA5		orphadata	ORPHA:402075
HP:0004380	Aortic valve calcification	4091	SMAD6		orphadata	ORPHA:402075
HP:0004381	Supravalvular aortic stenosis	5982	RFC2		orphadata	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	26119	LDLRAP1		orphadata	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	3949	LDLR		orphadata	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	2969	GTF2I		orphadata	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	3984	LIMK1		orphadata	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	9569	GTF2IRD1		orphadata	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	2006	ELN	-	mim2gene	OMIM:185500
HP:0004381	Supravalvular aortic stenosis	338	APOB		orphadata	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	9031	BAZ1B		orphadata	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	2006	ELN	-	mim2gene	OMIM:194050
HP:0004381	Supravalvular aortic stenosis	51085	MLXIPL	-	mim2gene	OMIM:194050
HP:0004381	Supravalvular aortic stenosis	7461	CLIP2		orphadata	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	64241	ABCG8		orphadata	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	2006	ELN		orphadata	ORPHA:3193
HP:0004381	Supravalvular aortic stenosis	255738	PCSK9		orphadata	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	10516	FBLN5	-	mim2gene	OMIM:219100
HP:0004381	Supravalvular aortic stenosis	2006	ELN		orphadata	ORPHA:904
HP:0004381	Supravalvular aortic stenosis	64240	ABCG5		orphadata	ORPHA:391665
HP:0004381	Supravalvular aortic stenosis	26608	TBL2		orphadata	ORPHA:904
HP:0004382	Mitral valve calcification	3081	HGD	-	mim2gene	OMIM:203500
HP:0004382	Mitral valve calcification	2629	GBA	-	mim2gene	OMIM:231005
HP:0004382	Mitral valve calcification	4000	LMNA		orphadata	ORPHA:363618
HP:0004382	Mitral valve calcification	2200	FBN1	-	mim2gene	OMIM:154700
HP:0004382	Mitral valve calcification	64135	IFIH1	-	mim2gene	OMIM:182250
HP:0004382	Mitral valve calcification	2629	GBA		orphadata	ORPHA:2072
HP:0004382	Mitral valve calcification	3081	HGD		orphadata	ORPHA:56
HP:0004382	Mitral valve calcification	2629	GBA		orphadata	ORPHA:77261
HP:0004383	Hypoplastic left heart	6910	TBX5	-	mim2gene	OMIM:142900
HP:0004383	Hypoplastic left heart	1837	DTNA	-	mim2gene	OMIM:604169
HP:0004383	Hypoplastic left heart	84231	TRAF7	-	mim2gene	OMIM:618164
HP:0004383	Hypoplastic left heart	168507	PKD1L1	-	mim2gene	OMIM:617205
HP:0004383	Hypoplastic left heart	10735	STAG2	-	mim2gene	OMIM:301022
HP:0004383	Hypoplastic left heart	145173	B3GLCT		orphadata	ORPHA:709
HP:0004383	Hypoplastic left heart	57514	ARHGAP31	-	mim2gene	OMIM:100300
HP:0004383	Hypoplastic left heart	23498	HAAO	-	mim2gene	OMIM:617660
HP:0004383	Hypoplastic left heart	7707	ZNF148	-	mim2gene	OMIM:617260
HP:0004383	Hypoplastic left heart	140628	GATA5		orphadata	ORPHA:402075
HP:0004383	Hypoplastic left heart	8942	KYNU	-	mim2gene	OMIM:617661
HP:0004383	Hypoplastic left heart	55784	MCTP2		orphadata	ORPHA:1596
HP:0004383	Hypoplastic left heart	51117	COQ4	-	mim2gene	OMIM:616276
HP:0004383	Hypoplastic left heart	1482	NKX2-5	-	mim2gene	OMIM:614435
HP:0004383	Hypoplastic left heart	8195	MKKS		orphadata	ORPHA:2473
HP:0004383	Hypoplastic left heart	9897	WASHC5	-	mim2gene	OMIM:220210
HP:0004383	Hypoplastic left heart	6910	TBX5		orphadata	ORPHA:392
HP:0004383	Hypoplastic left heart	2627	GATA6		orphadata	ORPHA:1330
HP:0004383	Hypoplastic left heart	78987	CRELD1		orphadata	ORPHA:1330
HP:0004383	Hypoplastic left heart	6899	TBX1		orphadata	ORPHA:1727
HP:0004383	Hypoplastic left heart	5053	PAH		orphadata	ORPHA:2209
HP:0004383	Hypoplastic left heart	2313	FLI1		orphadata	ORPHA:2308
HP:0004383	Hypoplastic left heart	1482	NKX2-5		orphadata	ORPHA:2248
HP:0004383	Hypoplastic left heart	9897	WASHC5		orphadata	ORPHA:7
HP:0004383	Hypoplastic left heart	2294	FOXF1		orphadata	ORPHA:210122
HP:0004383	Hypoplastic left heart	4091	SMAD6		orphadata	ORPHA:402075
HP:0004383	Hypoplastic left heart	2626	GATA4		orphadata	ORPHA:1330
HP:0004383	Hypoplastic left heart	2626	GATA4		orphadata	ORPHA:251071
HP:0004383	Hypoplastic left heart	2697	GJA1	-	mim2gene	OMIM:241550
HP:0004383	Hypoplastic left heart	2697	GJA1		orphadata	ORPHA:2248
HP:0004383	Hypoplastic left heart	4851	NOTCH1		orphadata	ORPHA:402075
HP:0004383	Hypoplastic left heart	7490	WT1		orphadata	ORPHA:3097
HP:0004383	Hypoplastic left heart	745	MYRF	-	mim2gene	OMIM:618280
HP:0004383	Hypoplastic left heart	7026	NR2F2	-	mim2gene	OMIM:615779
HP:0004383	Hypoplastic left heart	1482	NKX2-5		orphadata	ORPHA:402075
HP:0004383	Hypoplastic left heart	7026	NR2F2		orphadata	ORPHA:1330
HP:0004383	Hypoplastic left heart	28952	CCDC22		orphadata	ORPHA:7
HP:0004385	Protracted diarrhea	919	CD247		orphadata	ORPHA:169160
HP:0004385	Protracted diarrhea	6392	SDHD		orphadata	ORPHA:100093
HP:0004385	Protracted diarrhea	4261	CIITA	-	mim2gene	OMIM:209920
HP:0004385	Protracted diarrhea	916	CD3E		orphadata	ORPHA:169160
HP:0004385	Protracted diarrhea	8625	RFXANK		orphadata	ORPHA:572
HP:0004385	Protracted diarrhea	4645	MYO5B	-	mim2gene	OMIM:251850
HP:0004385	Protracted diarrhea	5993	RFX5		orphadata	ORPHA:572
HP:0004385	Protracted diarrhea	5993	RFX5	-	mim2gene	OMIM:209920
HP:0004385	Protracted diarrhea	5897	RAG2		orphadata	ORPHA:331206
HP:0004385	Protracted diarrhea	546	ATRX		orphadata	ORPHA:100075
HP:0004385	Protracted diarrhea	4261	CIITA		orphadata	ORPHA:572
HP:0004385	Protracted diarrhea	5994	RFXAP	-	mim2gene	OMIM:209920
HP:0004385	Protracted diarrhea	8625	RFXANK	-	mim2gene	OMIM:209920
HP:0004385	Protracted diarrhea	1616	DAXX		orphadata	ORPHA:100075
HP:0004385	Protracted diarrhea	5994	RFXAP		orphadata	ORPHA:572
HP:0004385	Protracted diarrhea	915	CD3D		orphadata	ORPHA:169160
HP:0004385	Protracted diarrhea	919	CD247	question	mim2gene	OMIM:610163
HP:0004385	Protracted diarrhea	5896	RAG1		orphadata	ORPHA:331206
HP:0004386	Gastrointestinal inflammation	9652	TTC37		orphadata	ORPHA:84064
HP:0004386	Gastrointestinal inflammation	8737	RIPK1	-	mim2gene	OMIM:618108
HP:0004386	Gastrointestinal inflammation	26873	OPLAH	-	mim2gene	OMIM:260005
HP:0004386	Gastrointestinal inflammation	6550	SLC9A3	-	mim2gene	OMIM:616868
HP:0004386	Gastrointestinal inflammation	843	CASP10		orphadata	ORPHA:3261
HP:0004386	Gastrointestinal inflammation	2743	GLRB		orphadata	ORPHA:3197
HP:0004386	Gastrointestinal inflammation	2162	F13A1		orphadata	ORPHA:331
HP:0004386	Gastrointestinal inflammation	6135	RPL11	-	mim2gene	OMIM:612562
HP:0004386	Gastrointestinal inflammation	51750	RTEL1	-	mim2gene	OMIM:615190
HP:0004386	Gastrointestinal inflammation	10243	GPHN		orphadata	ORPHA:3197
HP:0004386	Gastrointestinal inflammation	10095	ARPC1B	-	mim2gene	OMIM:617718
HP:0004386	Gastrointestinal inflammation	6885	MAP3K7	-	mim2gene	OMIM:617137
HP:0004386	Gastrointestinal inflammation	9152	SLC6A5		orphadata	ORPHA:3197
HP:0004386	Gastrointestinal inflammation	5238	PGM3		orphadata	ORPHA:443811
HP:0004386	Gastrointestinal inflammation	4689	NCF4	question	mim2gene	OMIM:613960
HP:0004386	Gastrointestinal inflammation	331	XIAP	-	mim2gene	OMIM:300635
HP:0004386	Gastrointestinal inflammation	6925	TCF4		orphadata	ORPHA:2896
HP:0004386	Gastrointestinal inflammation	1027	CDKN1B		orphadata	ORPHA:276152
HP:0004386	Gastrointestinal inflammation	5450	POU2AF1		orphadata	ORPHA:186
HP:0004386	Gastrointestinal inflammation	3587	IL10RA	-	mim2gene	OMIM:613148
HP:0004386	Gastrointestinal inflammation	4261	CIITA	-	mim2gene	OMIM:209920
HP:0004386	Gastrointestinal inflammation	2741	GLRA1		orphadata	ORPHA:3197
HP:0004386	Gastrointestinal inflammation	7042	TGFB2	-	mim2gene	OMIM:614816
HP:0004386	Gastrointestinal inflammation	3123	HLA-DRB1	susceptibility	mim2gene	OMIM:181000
HP:0004386	Gastrointestinal inflammation	58484	NLRC4	-	mim2gene	OMIM:616050
HP:0004386	Gastrointestinal inflammation	50943	FOXP3		orphadata	ORPHA:37042
HP:0004386	Gastrointestinal inflammation	7456	WIPF1		orphadata	ORPHA:906
HP:0004386	Gastrointestinal inflammation	10125	RASGRP1		orphadata	ORPHA:3261
HP:0004386	Gastrointestinal inflammation	987	LRBA	-	mim2gene	OMIM:614700
HP:0004386	Gastrointestinal inflammation	8625	RFXANK	-	mim2gene	OMIM:209920
HP:0004386	Gastrointestinal inflammation	7043	TGFB3	-	mim2gene	OMIM:615582
HP:0004386	Gastrointestinal inflammation	6925	TCF4		orphadata	ORPHA:171
HP:0004386	Gastrointestinal inflammation	4221	MEN1	-	mim2gene	OMIM:131100
HP:0004386	Gastrointestinal inflammation	84896	ATAD1		orphadata	ORPHA:3197
HP:0004386	Gastrointestinal inflammation	3592	IL12A		orphadata	ORPHA:186
HP:0004386	Gastrointestinal inflammation	5580	PRKCD		orphadata	ORPHA:3261
HP:0004386	Gastrointestinal inflammation	5723	PSPH		orphadata	ORPHA:79350
HP:0004386	Gastrointestinal inflammation	7040	TGFB1	-	mim2gene	OMIM:618213
HP:0004386	Gastrointestinal inflammation	5340	PLG		orphadata	ORPHA:97231
HP:0004386	Gastrointestinal inflammation	355	FAS		orphadata	ORPHA:3261
HP:0004386	Gastrointestinal inflammation	6499	SKIV2L		orphadata	ORPHA:84064
HP:0004386	Gastrointestinal inflammation	7046	TGFBR1	-	mim2gene	OMIM:609192
HP:0004386	Gastrointestinal inflammation	355	FAS		orphadata	ORPHA:3261
HP:0004386	Gastrointestinal inflammation	1030	CDKN2B		orphadata	ORPHA:652
HP:0004386	Gastrointestinal inflammation	6689	SPIB		orphadata	ORPHA:186
HP:0004386	Gastrointestinal inflammation	146206	CARMIL2	-	mim2gene	OMIM:618131
HP:0004386	Gastrointestinal inflammation	60468	BACH2	-	mim2gene	OMIM:618394
HP:0004386	Gastrointestinal inflammation	5993	RFX5	-	mim2gene	OMIM:209920
HP:0004386	Gastrointestinal inflammation	9509	ADAMTS2		orphadata	ORPHA:1901
HP:0004386	Gastrointestinal inflammation	5994	RFXAP	-	mim2gene	OMIM:209920
HP:0004386	Gastrointestinal inflammation	5336	PLCG2	-	mim2gene	OMIM:614878
HP:0004386	Gastrointestinal inflammation	4485	MST1		orphadata	ORPHA:171
HP:0004386	Gastrointestinal inflammation	345611	IRGM	susceptibility	mim2gene	OMIM:612278
HP:0004386	Gastrointestinal inflammation	3588	IL10RB	-	mim2gene	OMIM:612567
HP:0004386	Gastrointestinal inflammation	7454	WAS	-	mim2gene	OMIM:301000
HP:0004386	Gastrointestinal inflammation	338328	GPIHBP1	-	mim2gene	OMIM:615947
HP:0004386	Gastrointestinal inflammation	6499	SKIV2L	-	mim2gene	OMIM:614602
HP:0004386	Gastrointestinal inflammation	7535	ZAP70	-	mim2gene	OMIM:617006
HP:0004386	Gastrointestinal inflammation	57511	COG6	-	mim2gene	OMIM:614576
HP:0004386	Gastrointestinal inflammation	1031	CDKN2C		orphadata	ORPHA:652
HP:0004386	Gastrointestinal inflammation	9051	PSTPIP1		orphadata	ORPHA:69126
HP:0004386	Gastrointestinal inflammation	26227	PHGDH		orphadata	ORPHA:79351
HP:0004386	Gastrointestinal inflammation	60684	TRAPPC11	-	mim2gene	OMIM:615356
HP:0004386	Gastrointestinal inflammation	3257	HPS1	-	mim2gene	OMIM:203300
HP:0004386	Gastrointestinal inflammation	59067	IL21	question	mim2gene	OMIM:615767
HP:0004386	Gastrointestinal inflammation	55612	FERMT1		orphadata	ORPHA:2908
HP:0004386	Gastrointestinal inflammation	9966	TNFSF15		orphadata	ORPHA:186
HP:0004386	Gastrointestinal inflammation	7048	TGFBR2	-	mim2gene	OMIM:610168
HP:0004386	Gastrointestinal inflammation	6925	TCF4		orphadata	ORPHA:2896
HP:0004386	Gastrointestinal inflammation	356	FASLG		orphadata	ORPHA:3261
HP:0004386	Gastrointestinal inflammation	10747	MASP2	-	mim2gene	OMIM:613791
HP:0004386	Gastrointestinal inflammation	3594	IL12RB1		orphadata	ORPHA:186
HP:0004386	Gastrointestinal inflammation	4221	MEN1		orphadata	ORPHA:652
HP:0004386	Gastrointestinal inflammation	81031	SLC2A10		orphadata	ORPHA:3342
HP:0004386	Gastrointestinal inflammation	3569	IL6	susceptibility	mim2gene	OMIM:266600
HP:0004386	Gastrointestinal inflammation	1026	CDKN1A		orphadata	ORPHA:652
HP:0004386	Gastrointestinal inflammation	3663	IRF5		orphadata	ORPHA:186
HP:0004386	Gastrointestinal inflammation	3106	HLA-B	susceptibility	mim2gene	OMIM:106300
HP:0004386	Gastrointestinal inflammation	5422	POLA1	-	mim2gene	OMIM:301220
HP:0004386	Gastrointestinal inflammation	79258	MMEL1		orphadata	ORPHA:186
HP:0004386	Gastrointestinal inflammation	64127	NOD2	susceptibility	mim2gene	OMIM:266600
HP:0004386	Gastrointestinal inflammation	7128	TNFAIP3	-	mim2gene	OMIM:616744
HP:0004386	Gastrointestinal inflammation	7535	ZAP70		orphadata	ORPHA:911
HP:0004386	Gastrointestinal inflammation	1027	CDKN1B		orphadata	ORPHA:652
HP:0004386	Gastrointestinal inflammation	5979	RET	susceptibility	mim2gene	OMIM:142623
HP:0004386	Gastrointestinal inflammation	3507	IGHM	-	mim2gene	OMIM:601495
HP:0004386	Gastrointestinal inflammation	2165	F13B		orphadata	ORPHA:331
HP:0004386	Gastrointestinal inflammation	2859	GPR35		orphadata	ORPHA:171
HP:0004386	Gastrointestinal inflammation	538	ATP7A		orphadata	ORPHA:198
HP:0004386	Gastrointestinal inflammation	7454	WAS		orphadata	ORPHA:906
HP:0004386	Gastrointestinal inflammation	6772	STAT1		orphadata	ORPHA:391487
HP:0004386	Gastrointestinal inflammation	4088	SMAD3	-	mim2gene	OMIM:613795
HP:0004386	Gastrointestinal inflammation	23534	TNPO3		orphadata	ORPHA:186
HP:0004386	Gastrointestinal inflammation	5243	ABCB1	susceptibility	mim2gene	OMIM:612244
HP:0004387	Enterocolitis	26873	OPLAH	-	mim2gene	OMIM:260005
HP:0004387	Enterocolitis	3587	IL10RA	-	mim2gene	OMIM:613148
HP:0004387	Enterocolitis	3588	IL10RB	-	mim2gene	OMIM:612567
HP:0004387	Enterocolitis	5979	RET	susceptibility	mim2gene	OMIM:142623
HP:0004387	Enterocolitis	58484	NLRC4	-	mim2gene	OMIM:616050
HP:0004387	Enterocolitis	6772	STAT1		orphadata	ORPHA:391487
HP:0004388	Microcolon	4629	MYH11		orphadata	ORPHA:2241
HP:0004388	Microcolon	72	ACTG2	-	mim2gene	OMIM:155310
HP:0004388	Microcolon	25802	LMOD1		orphadata	ORPHA:2241
HP:0004388	Microcolon	10269	ZMPSTE24		orphadata	ORPHA:1662
HP:0004388	Microcolon	2627	GATA6	-	mim2gene	OMIM:600001
HP:0004388	Microcolon	6663	SOX10		orphadata	ORPHA:163746
HP:0004388	Microcolon	2984	GUCY2C	-	mim2gene	OMIM:614665
HP:0004388	Microcolon	72	ACTG2		orphadata	ORPHA:2241
HP:0004388	Microcolon	4638	MYLK		orphadata	ORPHA:2241
HP:0004388	Microcolon	4000	LMNA		orphadata	ORPHA:1662
HP:0004389	Intestinal pseudo-obstruction	5428	POLG	-	mim2gene	OMIM:607459
HP:0004389	Intestinal pseudo-obstruction	2316	FLNA	-	mim2gene	OMIM:300048
HP:0004389	Intestinal pseudo-obstruction	72	ACTG2	-	mim2gene	OMIM:155310
HP:0004389	Intestinal pseudo-obstruction	5885	RAD21	question	mim2gene	OMIM:611376
HP:0004389	Intestinal pseudo-obstruction	3423	IDS	-	mim2gene	OMIM:309900
HP:0004389	Intestinal pseudo-obstruction	7157	TP53		orphadata	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	672	BRCA1		orphadata	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	4089	SMAD4		orphadata	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	56652	TWNK	-	mim2gene	OMIM:607459
HP:0004389	Intestinal pseudo-obstruction	675	BRCA2		orphadata	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	5428	POLG		orphadata	ORPHA:70595
HP:0004389	Intestinal pseudo-obstruction	1029	CDKN2A		orphadata	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	3845	KRAS		orphadata	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	79728	PALB2		orphadata	ORPHA:1333
HP:0004389	Intestinal pseudo-obstruction	56652	TWNK		orphadata	ORPHA:70595
HP:0004389	Intestinal pseudo-obstruction	23022	PALLD		orphadata	ORPHA:1333
HP:0004390	Hamartomatous polyposis	6390	SDHB		orphadata	ORPHA:201
HP:0004390	Hamartomatous polyposis	26585	GREM1		orphadata	ORPHA:157794
HP:0004390	Hamartomatous polyposis	4437	MSH3		orphadata	ORPHA:480536
HP:0004390	Hamartomatous polyposis	5728	PTEN		orphadata	ORPHA:79076
HP:0004390	Hamartomatous polyposis	6794	STK11	-	mim2gene	OMIM:175200
HP:0004390	Hamartomatous polyposis	207	AKT1	-	mim2gene	OMIM:615109
HP:0004390	Hamartomatous polyposis	657	BMPR1A	-	mim2gene	OMIM:610069
HP:0004390	Hamartomatous polyposis	657	BMPR1A		orphadata	ORPHA:157794
HP:0004390	Hamartomatous polyposis	5290	PIK3CA	-	mim2gene	OMIM:615108
HP:0004390	Hamartomatous polyposis	4089	SMAD4	-	mim2gene	OMIM:175050
HP:0004390	Hamartomatous polyposis	1311	COMP		orphadata	ORPHA:750
HP:0004390	Hamartomatous polyposis	6391	SDHC		orphadata	ORPHA:201
HP:0004390	Hamartomatous polyposis	100144748	KLLN		orphadata	ORPHA:201
HP:0004390	Hamartomatous polyposis	5728	PTEN	-	mim2gene	OMIM:158350
HP:0004390	Hamartomatous polyposis	51684	SUFU	-	mim2gene	OMIM:109400
HP:0004390	Hamartomatous polyposis	8643	PTCH2	-	mim2gene	OMIM:109400
HP:0004390	Hamartomatous polyposis	5728	PTEN		orphadata	ORPHA:109
HP:0004390	Hamartomatous polyposis	6392	SDHD		orphadata	ORPHA:201
HP:0004390	Hamartomatous polyposis	5727	PTCH1	-	mim2gene	OMIM:109400
HP:0004390	Hamartomatous polyposis	10483	SEC23B		orphadata	ORPHA:201
HP:0004390	Hamartomatous polyposis	5728	PTEN		orphadata	ORPHA:201
HP:0004390	Hamartomatous polyposis	5290	PIK3CA		orphadata	ORPHA:201
HP:0004390	Hamartomatous polyposis	207	AKT1		orphadata	ORPHA:201
HP:0004390	Hamartomatous polyposis	657	BMPR1A		orphadata	ORPHA:79076
HP:0004392	Prune belly	1131	CHRM3	question	mim2gene	OMIM:100100
HP:0004392	Prune belly	9780	PIEZO1	-	mim2gene	OMIM:616843
HP:0004394	Multiple gastric polyps	324	APC	-	mim2gene	OMIM:175100
HP:0004394	Multiple gastric polyps	4089	SMAD4	-	mim2gene	OMIM:174900
HP:0004394	Multiple gastric polyps	657	BMPR1A		orphadata	ORPHA:329971
HP:0004394	Multiple gastric polyps	2022	ENG		orphadata	ORPHA:329971
HP:0004394	Multiple gastric polyps	4089	SMAD4		orphadata	ORPHA:329971
HP:0004394	Multiple gastric polyps	11277	TREX1	-	mim2gene	OMIM:225750
HP:0004394	Multiple gastric polyps	4437	MSH3		orphadata	ORPHA:480536
HP:0004394	Multiple gastric polyps	324	APC	-	mim2gene	OMIM:175100
HP:0004394	Multiple gastric polyps	324	APC		orphadata	ORPHA:79665
HP:0004394	Multiple gastric polyps	657	BMPR1A	-	mim2gene	OMIM:174900
HP:0004394	Multiple gastric polyps	324	APC		orphadata	ORPHA:247806
HP:0004395	Malnutrition	9056	SLC7A7	-	mim2gene	OMIM:222700
HP:0004395	Malnutrition	72	ACTG2	-	mim2gene	OMIM:155310
HP:0004395	Malnutrition	5818	NECTIN1		orphadata	ORPHA:199306
HP:0004395	Malnutrition	999	CDH1		orphadata	ORPHA:199306
HP:0004395	Malnutrition	4487	MSX1		orphadata	ORPHA:199306
HP:0004395	Malnutrition	1739	DLG1		orphadata	ORPHA:199306
HP:0004395	Malnutrition	4645	MYO5B	-	mim2gene	OMIM:251850
HP:0004395	Malnutrition	51128	SAR1B	-	mim2gene	OMIM:246700
HP:0004395	Malnutrition	4312	MMP1	susceptibility; modifier	mim2gene	OMIM:226600
HP:0004395	Malnutrition	1294	COL7A1	-	mim2gene	OMIM:226600
HP:0004395	Malnutrition	9411	ARHGAP29		orphadata	ORPHA:199306
HP:0004395	Malnutrition	1748	DLX4		orphadata	ORPHA:199306
HP:0004395	Malnutrition	6288	SAA1		orphadata	ORPHA:85445
HP:0004395	Malnutrition	3988	LIPA		orphadata	ORPHA:75233
HP:0004395	Malnutrition	5428	POLG	-	mim2gene	OMIM:613662
HP:0004395	Malnutrition	652	BMP4		orphadata	ORPHA:199306
HP:0004395	Malnutrition	1890	TYMP	-	mim2gene	OMIM:603041
HP:0004395	Malnutrition	229	ALDOB	-	mim2gene	OMIM:229600
HP:0004395	Malnutrition	8626	TP63		orphadata	ORPHA:199306
HP:0004395	Malnutrition	84701	COX4I2	-	mim2gene	OMIM:612714
HP:0004395	Malnutrition	5428	POLG	-	mim2gene	OMIM:603041
HP:0004395	Malnutrition	3664	IRF6		orphadata	ORPHA:199306
HP:0004396	Poor appetite	162417	NAGS		orphadata	ORPHA:927
HP:0004396	Poor appetite	115286	SLC25A26	-	mim2gene	OMIM:616794
HP:0004396	Poor appetite	7157	TP53		orphadata	ORPHA:1333
HP:0004396	Poor appetite	3858	KRT10		orphadata	ORPHA:312
HP:0004396	Poor appetite	4089	SMAD4		orphadata	ORPHA:1333
HP:0004396	Poor appetite	546	ATRX		orphadata	ORPHA:100075
HP:0004396	Poor appetite	1616	DAXX		orphadata	ORPHA:100075
HP:0004396	Poor appetite	675	BRCA2		orphadata	ORPHA:1333
HP:0004396	Poor appetite	79728	PALB2		orphadata	ORPHA:1333
HP:0004396	Poor appetite	55630	SLC39A4		orphadata	ORPHA:37
HP:0004396	Poor appetite	79651	RHBDF2		orphadata	ORPHA:2198
HP:0004396	Poor appetite	861	RUNX1		orphadata	ORPHA:521
HP:0004396	Poor appetite	23022	PALLD		orphadata	ORPHA:1333
HP:0004396	Poor appetite	3848	KRT1		orphadata	ORPHA:312
HP:0004396	Poor appetite	6514	SLC2A2	-	mim2gene	OMIM:227810
HP:0004396	Poor appetite	1890	TYMP		orphadata	ORPHA:298
HP:0004396	Poor appetite	5095	PCCA	-	mim2gene	OMIM:606054
HP:0004396	Poor appetite	7040	TGFB1	-	mim2gene	OMIM:131300
HP:0004396	Poor appetite	92667	MGME1		orphadata	ORPHA:352447
HP:0004396	Poor appetite	672	BRCA1		orphadata	ORPHA:1333
HP:0004396	Poor appetite	5295	PIK3R1		orphadata	ORPHA:3163
HP:0004396	Poor appetite	613	BCR		orphadata	ORPHA:521
HP:0004396	Poor appetite	10165	SLC25A13		orphadata	ORPHA:247598
HP:0004396	Poor appetite	55630	SLC39A4	-	mim2gene	OMIM:201100
HP:0004396	Poor appetite	25	ABL1		orphadata	ORPHA:521
HP:0004396	Poor appetite	1029	CDKN2A		orphadata	ORPHA:1333
HP:0004396	Poor appetite	3845	KRAS		orphadata	ORPHA:1333
HP:0004396	Poor appetite	50484	RRM2B		orphadata	ORPHA:298
HP:0004396	Poor appetite	5096	PCCB	-	mim2gene	OMIM:606054
HP:0004396	Poor appetite	5428	POLG		orphadata	ORPHA:298
HP:0004397	Ectopic anus	79659	DYNC2H1		orphadata	ORPHA:93271
HP:0004397	Ectopic anus	9791	PTDSS1	-	mim2gene	OMIM:151050
HP:0004397	Ectopic anus	57560	IFT80		orphadata	ORPHA:93271
HP:0004397	Ectopic anus	64840	PORCN	-	mim2gene	OMIM:305600
HP:0004397	Ectopic anus	197131	UBR1	-	mim2gene	OMIM:243800
HP:0004397	Ectopic anus	79633	FAT4		orphadata	ORPHA:314679
HP:0004397	Ectopic anus	93210	PGAP3		orphadata	ORPHA:247262
HP:0004397	Ectopic anus	37	ACADVL		orphadata	ORPHA:26793
HP:0004397	Ectopic anus	55112	WDR60		orphadata	ORPHA:93271
HP:0004397	Ectopic anus	9401	RECQL4	-	mim2gene	OMIM:268400
HP:0004397	Ectopic anus	4920	ROR2		orphadata	ORPHA:1507
HP:0004397	Ectopic anus	197131	UBR1		orphadata	ORPHA:2315
HP:0004397	Ectopic anus	57539	WDR35		orphadata	ORPHA:93271
HP:0004397	Ectopic anus	27315	PGAP2		orphadata	ORPHA:247262
HP:0004397	Ectopic anus	64359	NXN		orphadata	ORPHA:1507
HP:0004397	Ectopic anus	80144	FRAS1		orphadata	ORPHA:2052
HP:0004397	Ectopic anus	158326	FREM1		orphadata	ORPHA:2717
HP:0004397	Ectopic anus	9401	RECQL4		orphadata	ORPHA:1225
HP:0004397	Ectopic anus	9897	WASHC5		orphadata	ORPHA:7
HP:0004397	Ectopic anus	284098	PIGW		orphadata	ORPHA:247262
HP:0004397	Ectopic anus	2263	FGFR2		orphadata	ORPHA:87
HP:0004397	Ectopic anus	51339	DACT1		orphadata	ORPHA:857
HP:0004397	Ectopic anus	6299	SALL1		orphadata	ORPHA:857
HP:0004397	Ectopic anus	9487	PIGL		orphadata	ORPHA:247262
HP:0004397	Ectopic anus	392255	GDF6		orphadata	ORPHA:2345
HP:0004397	Ectopic anus	2263	FGFR2	-	mim2gene	OMIM:101200
HP:0004397	Ectopic anus	3052	HCCS	-	mim2gene	OMIM:309801
HP:0004397	Ectopic anus	8642	DCHS1	-	mim2gene	OMIM:601390
HP:0004397	Ectopic anus	158326	FREM1		orphadata	ORPHA:217266
HP:0004397	Ectopic anus	1822	ATN1	-	mim2gene	OMIM:618494
HP:0004397	Ectopic anus	28952	CCDC22		orphadata	ORPHA:7
HP:0004397	Ectopic anus	6628	SNRPB	-	mim2gene	OMIM:117650
HP:0004397	Ectopic anus	158326	FREM1	-	mim2gene	OMIM:608980
HP:0004397	Ectopic anus	9573	GDF3		orphadata	ORPHA:2345
HP:0004397	Ectopic anus	26005	C2CD3	-	mim2gene	OMIM:615948
HP:0004397	Ectopic anus	29957	SLC25A24	-	mim2gene	OMIM:612289
HP:0004397	Ectopic anus	1009	CDH11		orphadata	ORPHA:1299
HP:0004397	Ectopic anus	2263	FGFR2	-	mim2gene	OMIM:123790
HP:0004397	Ectopic anus	341640	FREM2		orphadata	ORPHA:2052
HP:0004397	Ectopic anus	1349	COX7B	-	mim2gene	OMIM:309801
HP:0004397	Ectopic anus	84720	PIGO		orphadata	ORPHA:247262
HP:0004397	Ectopic anus	145173	B3GLCT	-	mim2gene	OMIM:261540
HP:0004397	Ectopic anus	23426	GRIP1		orphadata	ORPHA:2052
HP:0004397	Ectopic anus	6926	TBX3		orphadata	ORPHA:3138
HP:0004397	Ectopic anus	1108	CHD4	-	mim2gene	OMIM:617159
HP:0004397	Ectopic anus	158326	FREM1	-	mim2gene	OMIM:248450
HP:0004397	Ectopic anus	8195	MKKS		orphadata	ORPHA:2473
HP:0004397	Ectopic anus	1857	DVL3	-	mim2gene	OMIM:616894
HP:0004397	Ectopic anus	55650	PIGV	-	mim2gene	OMIM:239300
HP:0004397	Ectopic anus	222546	RFX6	-	mim2gene	OMIM:615710
HP:0004397	Ectopic anus	4222	MEOX1		orphadata	ORPHA:2345
HP:0004397	Ectopic anus	7547	ZIC3	-	mim2gene	OMIM:306955
HP:0004397	Ectopic anus	89891	WDR34		orphadata	ORPHA:93271
HP:0004397	Ectopic anus	8642	DCHS1		orphadata	ORPHA:314679
HP:0004397	Ectopic anus	54539	NDUFB11	-	mim2gene	OMIM:309801
HP:0004397	Ectopic anus	26040	SETBP1		orphadata	ORPHA:798
HP:0004397	Ectopic anus	2263	FGFR2		orphadata	ORPHA:1555
HP:0004397	Ectopic anus	23556	PIGN		orphadata	ORPHA:2059
HP:0004397	Ectopic anus	2313	FLI1		orphadata	ORPHA:2308
HP:0004397	Ectopic anus	9401	RECQL4	-	mim2gene	OMIM:218600
HP:0004397	Ectopic anus	1009	CDH11	-	mim2gene	OMIM:211380
HP:0004397	Ectopic anus	9968	MED12	-	mim2gene	OMIM:305450
HP:0004397	Ectopic anus	55650	PIGV		orphadata	ORPHA:247262
HP:0004397	Ectopic anus	84992	PIGY		orphadata	ORPHA:247262
HP:0004398	Peptic ulcer	3248	HPGD		orphadata	ORPHA:2796
HP:0004398	Peptic ulcer	57492	ARID1B	-	mim2gene	OMIM:135900
HP:0004398	Peptic ulcer	2969	GTF2I		orphadata	ORPHA:904
HP:0004398	Peptic ulcer	9569	GTF2IRD1		orphadata	ORPHA:904
HP:0004398	Peptic ulcer	1030	CDKN2B		orphadata	ORPHA:652
HP:0004398	Peptic ulcer	6578	SLCO2A1		orphadata	ORPHA:2796
HP:0004398	Peptic ulcer	9031	BAZ1B		orphadata	ORPHA:904
HP:0004398	Peptic ulcer	7461	CLIP2		orphadata	ORPHA:904
HP:0004398	Peptic ulcer	79577	CDC73		orphadata	ORPHA:143
HP:0004398	Peptic ulcer	1031	CDKN2C		orphadata	ORPHA:652
HP:0004398	Peptic ulcer	493856	CISD2		orphadata	ORPHA:3463
HP:0004398	Peptic ulcer	2006	ELN		orphadata	ORPHA:904
HP:0004398	Peptic ulcer	493856	CISD2	-	mim2gene	OMIM:604928
HP:0004398	Peptic ulcer	1027	CDKN1B		orphadata	ORPHA:276152
HP:0004398	Peptic ulcer	1175	AP2S1	-	mim2gene	OMIM:600740
HP:0004398	Peptic ulcer	5982	RFC2		orphadata	ORPHA:904
HP:0004398	Peptic ulcer	3984	LIMK1		orphadata	ORPHA:904
HP:0004398	Peptic ulcer	5321	PLA2G4A	-	mim2gene	OMIM:618372
HP:0004398	Peptic ulcer	4221	MEN1		orphadata	ORPHA:652
HP:0004398	Peptic ulcer	1026	CDKN1A		orphadata	ORPHA:652
HP:0004398	Peptic ulcer	57222	ERGIC1		orphadata	ORPHA:1143
HP:0004398	Peptic ulcer	79577	CDC73		orphadata	ORPHA:99880
HP:0004398	Peptic ulcer	4221	MEN1	-	mim2gene	OMIM:131100
HP:0004398	Peptic ulcer	1027	CDKN1B		orphadata	ORPHA:652
HP:0004398	Peptic ulcer	7466	WFS1		orphadata	ORPHA:3463
HP:0004398	Peptic ulcer	2767	GNA11	-	mim2gene	OMIM:145981
HP:0004398	Peptic ulcer	26608	TBL2		orphadata	ORPHA:904
HP:0004399	Congenital pyloric atresia	3691	ITGB4	-	mim2gene	OMIM:226730
HP:0004399	Congenital pyloric atresia	3691	ITGB4		orphadata	ORPHA:79403
HP:0004399	Congenital pyloric atresia	3655	ITGA6	-	mim2gene	OMIM:226730
HP:0004399	Congenital pyloric atresia	3655	ITGA6		orphadata	ORPHA:79403
HP:0004399	Congenital pyloric atresia	5339	PLEC	-	mim2gene	OMIM:226730
HP:0004400	Abnormality of the pylorus	64419	MTMR14		orphadata	ORPHA:169189
HP:0004400	Abnormality of the pylorus	79868	ALG13		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	160418	TMTC3		orphadata	ORPHA:98892
HP:0004400	Abnormality of the pylorus	11141	IL1RAPL1		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	1536	CYBB		orphadata	ORPHA:379
HP:0004400	Abnormality of the pylorus	11043	MID2		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	1723	DHODH	-	mim2gene	OMIM:263750
HP:0004400	Abnormality of the pylorus	2316	FLNA		orphadata	ORPHA:98892
HP:0004400	Abnormality of the pylorus	6928	HNF1B		orphadata	ORPHA:93111
HP:0004400	Abnormality of the pylorus	1535	CYBA		orphadata	ORPHA:379
HP:0004400	Abnormality of the pylorus	5195	PEX14		orphadata	ORPHA:912
HP:0004400	Abnormality of the pylorus	3691	ITGB4	-	mim2gene	OMIM:226730
HP:0004400	Abnormality of the pylorus	7592	ZNF41		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	5828	PEX2		orphadata	ORPHA:912
HP:0004400	Abnormality of the pylorus	25836	NIPBL	-	mim2gene	OMIM:122470
HP:0004400	Abnormality of the pylorus	653361	NCF1		orphadata	ORPHA:379
HP:0004400	Abnormality of the pylorus	5192	PEX10		orphadata	ORPHA:912
HP:0004400	Abnormality of the pylorus	871	SERPINH1	-	mim2gene	OMIM:613848
HP:0004400	Abnormality of the pylorus	63895	PIEZO2		orphadata	ORPHA:2461
HP:0004400	Abnormality of the pylorus	10555	AGPAT2		orphadata	ORPHA:528
HP:0004400	Abnormality of the pylorus	9968	MED12		orphadata	ORPHA:93932
HP:0004400	Abnormality of the pylorus	4534	MTM1	-	mim2gene	OMIM:310400
HP:0004400	Abnormality of the pylorus	63976	PRDM16		orphadata	ORPHA:1606
HP:0004400	Abnormality of the pylorus	2664	GDI1		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	5189	PEX1		orphadata	ORPHA:912
HP:0004400	Abnormality of the pylorus	2353	FOS		orphadata	ORPHA:528
HP:0004400	Abnormality of the pylorus	375	ARF1		orphadata	ORPHA:98892
HP:0004400	Abnormality of the pylorus	5194	PEX13		orphadata	ORPHA:912
HP:0004400	Abnormality of the pylorus	473	RERE		orphadata	ORPHA:1606
HP:0004400	Abnormality of the pylorus	6261	RYR1		orphadata	ORPHA:169189
HP:0004400	Abnormality of the pylorus	63895	PIEZO2	question	mim2gene	OMIM:248700
HP:0004400	Abnormality of the pylorus	6855	SYP		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	4744	NEFH	-	mim2gene	OMIM:616924
HP:0004400	Abnormality of the pylorus	3655	ITGA6		orphadata	ORPHA:79403
HP:0004400	Abnormality of the pylorus	9759	HDAC4		orphadata	ORPHA:1001
HP:0004400	Abnormality of the pylorus	857	CAV1		orphadata	ORPHA:528
HP:0004400	Abnormality of the pylorus	5193	PEX12		orphadata	ORPHA:912
HP:0004400	Abnormality of the pylorus	1741	DLG3		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	1399	CRKL		orphadata	ORPHA:261330
HP:0004400	Abnormality of the pylorus	2263	FGFR2	-	mim2gene	OMIM:101200
HP:0004400	Abnormality of the pylorus	1717	DHCR7	-	mim2gene	OMIM:270400
HP:0004400	Abnormality of the pylorus	6926	TBX3	-	mim2gene	OMIM:181450
HP:0004400	Abnormality of the pylorus	4297	KMT2A		orphadata	ORPHA:199
HP:0004400	Abnormality of the pylorus	2563	GABRD		orphadata	ORPHA:1606
HP:0004400	Abnormality of the pylorus	1756	DMD		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	54880	BCOR	-	mim2gene	OMIM:309800
HP:0004400	Abnormality of the pylorus	4204	MECP2		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	5824	PEX19		orphadata	ORPHA:912
HP:0004400	Abnormality of the pylorus	274	BIN1		orphadata	ORPHA:169189
HP:0004400	Abnormality of the pylorus	8239	USP9X		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	170302	ARX		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	23327	NEDD4L		orphadata	ORPHA:98892
HP:0004400	Abnormality of the pylorus	9126	SMC3		orphadata	ORPHA:199
HP:0004400	Abnormality of the pylorus	10564	ARFGEF2		orphadata	ORPHA:98892
HP:0004400	Abnormality of the pylorus	6926	TBX3		orphadata	ORPHA:3138
HP:0004400	Abnormality of the pylorus	4868	NPHS1	-	mim2gene	OMIM:256300
HP:0004400	Abnormality of the pylorus	1785	DNM2		orphadata	ORPHA:169189
HP:0004400	Abnormality of the pylorus	26580	BSCL2		orphadata	ORPHA:528
HP:0004400	Abnormality of the pylorus	24140	FTSJ1		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	8504	PEX3		orphadata	ORPHA:912
HP:0004400	Abnormality of the pylorus	186	AGTR2		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	8799	PEX11B		orphadata	ORPHA:912
HP:0004400	Abnormality of the pylorus	3918	LAMC2	-	mim2gene	OMIM:226700
HP:0004400	Abnormality of the pylorus	80781	COL18A1		orphadata	ORPHA:1571
HP:0004400	Abnormality of the pylorus	3909	LAMA3	-	mim2gene	OMIM:226700
HP:0004400	Abnormality of the pylorus	81031	SLC2A10		orphadata	ORPHA:3342
HP:0004400	Abnormality of the pylorus	3914	LAMB3	-	mim2gene	OMIM:226700
HP:0004400	Abnormality of the pylorus	9896	FIG4		orphadata	ORPHA:3472
HP:0004400	Abnormality of the pylorus	55209	SETD5		orphadata	ORPHA:199
HP:0004400	Abnormality of the pylorus	7020	TFAP2A	-	mim2gene	OMIM:113620
HP:0004400	Abnormality of the pylorus	4688	NCF2		orphadata	ORPHA:379
HP:0004400	Abnormality of the pylorus	3691	ITGB4		orphadata	ORPHA:79403
HP:0004400	Abnormality of the pylorus	1717	DHCR7		orphadata	ORPHA:818
HP:0004400	Abnormality of the pylorus	25836	NIPBL		orphadata	ORPHA:199
HP:0004400	Abnormality of the pylorus	8243	SMC1A		orphadata	ORPHA:199
HP:0004400	Abnormality of the pylorus	79415	CYBC1		orphadata	ORPHA:379
HP:0004400	Abnormality of the pylorus	9968	MED12		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	9839	ZEB2	-	mim2gene	OMIM:235730
HP:0004400	Abnormality of the pylorus	91754	NEK9	question	mim2gene	OMIM:614262
HP:0004400	Abnormality of the pylorus	5885	RAD21		orphadata	ORPHA:199
HP:0004400	Abnormality of the pylorus	147372	CCBE1		orphadata	ORPHA:2136
HP:0004400	Abnormality of the pylorus	9409	PEX16		orphadata	ORPHA:912
HP:0004400	Abnormality of the pylorus	6885	MAP3K7	-	mim2gene	OMIM:617137
HP:0004400	Abnormality of the pylorus	55697	VAC14		orphadata	ORPHA:3472
HP:0004400	Abnormality of the pylorus	7552	ZNF711		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	5594	MAPK1		orphadata	ORPHA:261330
HP:0004400	Abnormality of the pylorus	65109	UPF3B		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	4618	MYF6		orphadata	ORPHA:169189
HP:0004400	Abnormality of the pylorus	284119	CAVIN1		orphadata	ORPHA:528
HP:0004400	Abnormality of the pylorus	5063	PAK3		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	55012	PPP2R3C	-	mim2gene	OMIM:618419
HP:0004400	Abnormality of the pylorus	23096	IQSEC2		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	55670	PEX26		orphadata	ORPHA:912
HP:0004400	Abnormality of the pylorus	5830	PEX5		orphadata	ORPHA:912
HP:0004400	Abnormality of the pylorus	22866	CNKSR2		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	5009	OTC		orphadata	ORPHA:664
HP:0004400	Abnormality of the pylorus	5190	PEX6		orphadata	ORPHA:912
HP:0004400	Abnormality of the pylorus	5339	PLEC	-	mim2gene	OMIM:226730
HP:0004400	Abnormality of the pylorus	139411	PTCHD1		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	2316	FLNA	-	mim2gene	OMIM:300048
HP:0004400	Abnormality of the pylorus	9508	ADAMTS3		orphadata	ORPHA:2136
HP:0004400	Abnormality of the pylorus	9758	FRMPD4		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	55869	HDAC8		orphadata	ORPHA:199
HP:0004400	Abnormality of the pylorus	3265	HRAS	-	mim2gene	OMIM:218040
HP:0004400	Abnormality of the pylorus	3655	ITGA6	-	mim2gene	OMIM:226730
HP:0004400	Abnormality of the pylorus	4131	MAP1B		orphadata	ORPHA:98892
HP:0004400	Abnormality of the pylorus	4689	NCF4		orphadata	ORPHA:379
HP:0004400	Abnormality of the pylorus	613	BCR		orphadata	ORPHA:261330
HP:0004400	Abnormality of the pylorus	63932	CXORF56		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	1183	CLCN4		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	7102	TSPAN7		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	84679	SLC9A7		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	25970	SH2B1		orphadata	ORPHA:261197
HP:0004400	Abnormality of the pylorus	2313	FLI1		orphadata	ORPHA:2308
HP:0004400	Abnormality of the pylorus	55780	ERMARD		orphadata	ORPHA:98892
HP:0004400	Abnormality of the pylorus	8514	KCNAB2		orphadata	ORPHA:1606
HP:0004400	Abnormality of the pylorus	116442	RAB39B		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	9459	ARHGEF6		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	6197	RPS6KA3		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	389856	USP27X		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	9968	MED12	-	mim2gene	OMIM:305450
HP:0004400	Abnormality of the pylorus	3172	HNF4A		orphadata	ORPHA:93111
HP:0004400	Abnormality of the pylorus	2182	ACSL4		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	8425	LTBP4	-	mim2gene	OMIM:613177
HP:0004400	Abnormality of the pylorus	5468	PPARG		orphadata	ORPHA:528
HP:0004400	Abnormality of the pylorus	284119	CAVIN1	-	mim2gene	OMIM:613327
HP:0004400	Abnormality of the pylorus	284058	KANSL1	-	mim2gene	OMIM:610443
HP:0004400	Abnormality of the pylorus	347344	ZNF81		orphadata	ORPHA:777
HP:0004400	Abnormality of the pylorus	6497	SKI		orphadata	ORPHA:1606
HP:0004400	Abnormality of the pylorus	8260	NAA10	question	mim2gene	OMIM:309800
HP:0004400	Abnormality of the pylorus	79633	FAT4		orphadata	ORPHA:2136
HP:0004400	Abnormality of the pylorus	5528	PPP2R5D	-	mim2gene	OMIM:616355
HP:0004400	Abnormality of the pylorus	9896	FIG4	-	mim2gene	OMIM:216340
HP:0004400	Abnormality of the pylorus	3054	HCFC1		orphadata	ORPHA:777
HP:0004401	Meconium ileus	2212	FCGR2A	susceptibility	mim2gene	OMIM:219700
HP:0004401	Meconium ileus	1080	CFTR	-	mim2gene	OMIM:219700
HP:0004401	Meconium ileus	7040	TGFB1	susceptibility; modifier	mim2gene	OMIM:219700
HP:0004401	Meconium ileus	2984	GUCY2C	-	mim2gene	OMIM:614665
HP:0004404	Abnormal nipple morphology	404672	GTF2H5		orphadata	ORPHA:33364
HP:0004404	Abnormal nipple morphology	197131	UBR1	-	mim2gene	OMIM:243800
HP:0004404	Abnormal nipple morphology	6611	SMS	-	mim2gene	OMIM:309583
HP:0004404	Abnormal nipple morphology	8626	TP63	-	mim2gene	OMIM:603543
HP:0004404	Abnormal nipple morphology	2068	ERCC2		orphadata	ORPHA:33364
HP:0004404	Abnormal nipple morphology	10982	MAPRE2	-	mim2gene	OMIM:616734
HP:0004404	Abnormal nipple morphology	3845	KRAS		orphadata	ORPHA:648
HP:0004404	Abnormal nipple morphology	5922	RASA2		orphadata	ORPHA:648
HP:0004404	Abnormal nipple morphology	7319	UBE2A	-	mim2gene	OMIM:300860
HP:0004404	Abnormal nipple morphology	8626	TP63		orphadata	ORPHA:1896
HP:0004404	Abnormal nipple morphology	26012	NSMF		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	25836	NIPBL	-	mim2gene	OMIM:122470
HP:0004404	Abnormal nipple morphology	8626	TP63		orphadata	ORPHA:69085
HP:0004404	Abnormal nipple morphology	9487	PIGL	-	mim2gene	OMIM:280000
HP:0004404	Abnormal nipple morphology	6611	SMS		orphadata	ORPHA:3063
HP:0004404	Abnormal nipple morphology	6897	TARS1		orphadata	ORPHA:33364
HP:0004404	Abnormal nipple morphology	80144	FRAS1		orphadata	ORPHA:2052
HP:0004404	Abnormal nipple morphology	56992	KIF15		orphadata	ORPHA:261323
HP:0004404	Abnormal nipple morphology	6654	SOS1		orphadata	ORPHA:648
HP:0004404	Abnormal nipple morphology	9897	WASHC5		orphadata	ORPHA:7
HP:0004404	Abnormal nipple morphology	54476	RNF216		orphadata	ORPHA:1173
HP:0004404	Abnormal nipple morphology	2253	FGF8		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	5894	RAF1		orphadata	ORPHA:648
HP:0004404	Abnormal nipple morphology	5792	PTPRF	question	mim2gene	OMIM:616001
HP:0004404	Abnormal nipple morphology	8626	TP63	-	mim2gene	OMIM:103285
HP:0004404	Abnormal nipple morphology	203068	TUBB	-	mim2gene	OMIM:156610
HP:0004404	Abnormal nipple morphology	3190	HNRNPK	-	mim2gene	OMIM:616580
HP:0004404	Abnormal nipple morphology	1822	ATN1	-	mim2gene	OMIM:618494
HP:0004404	Abnormal nipple morphology	200205	IBA57	-	mim2gene	OMIM:615330
HP:0004404	Abnormal nipple morphology	1146	CHRNG	-	mim2gene	OMIM:265000
HP:0004404	Abnormal nipple morphology	117581	TWIST2	-	mim2gene	OMIM:200110
HP:0004404	Abnormal nipple morphology	867	CBL	-	mim2gene	OMIM:613563
HP:0004404	Abnormal nipple morphology	9487	PIGL		orphadata	ORPHA:3474
HP:0004404	Abnormal nipple morphology	79087	ALG12	-	mim2gene	OMIM:607143
HP:0004404	Abnormal nipple morphology	1947	EFNB1		orphadata	ORPHA:1520
HP:0004404	Abnormal nipple morphology	2796	GNRH1		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	9126	SMC3		orphadata	ORPHA:199
HP:0004404	Abnormal nipple morphology	5373	PMM2	-	mim2gene	OMIM:212065
HP:0004404	Abnormal nipple morphology	22800	RRAS2		orphadata	ORPHA:648
HP:0004404	Abnormal nipple morphology	6654	SOS1	-	mim2gene	OMIM:610733
HP:0004404	Abnormal nipple morphology	6866	TAC3		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	7468	NSD2		orphadata	ORPHA:280
HP:0004404	Abnormal nipple morphology	10584	COLEC10		orphadata	ORPHA:293843
HP:0004404	Abnormal nipple morphology	7317	UBA1		orphadata	ORPHA:1145
HP:0004404	Abnormal nipple morphology	7737	RNF113A		orphadata	ORPHA:33364
HP:0004404	Abnormal nipple morphology	440138	ALG11		orphadata	ORPHA:280071
HP:0004404	Abnormal nipple morphology	81848	SPRY4		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	5373	PMM2		orphadata	ORPHA:79318
HP:0004404	Abnormal nipple morphology	171023	ASXL1		orphadata	ORPHA:97297
HP:0004404	Abnormal nipple morphology	23135	KDM6B	-	mim2gene	OMIM:618505
HP:0004404	Abnormal nipple morphology	8481	OFD1	-	mim2gene	OMIM:300209
HP:0004404	Abnormal nipple morphology	55209	SETD5		orphadata	ORPHA:199
HP:0004404	Abnormal nipple morphology	55650	PIGV		orphadata	ORPHA:247262
HP:0004404	Abnormal nipple morphology	84992	PIGY		orphadata	ORPHA:247262
HP:0004404	Abnormal nipple morphology	27152	INTU	question	mim2gene	OMIM:617925
HP:0004404	Abnormal nipple morphology	10908	PNPLA6		orphadata	ORPHA:1173
HP:0004404	Abnormal nipple morphology	139285	AMER1	-	mim2gene	OMIM:300373
HP:0004404	Abnormal nipple morphology	64840	PORCN	-	mim2gene	OMIM:305600
HP:0004404	Abnormal nipple morphology	57003	CCDC47	-	mim2gene	OMIM:618268
HP:0004404	Abnormal nipple morphology	145173	B3GLCT		orphadata	ORPHA:709
HP:0004404	Abnormal nipple morphology	22858	CILK1	-	mim2gene	OMIM:612651
HP:0004404	Abnormal nipple morphology	79796	ALG9	-	mim2gene	OMIM:608776
HP:0004404	Abnormal nipple morphology	79158	GNPTAB	-	mim2gene	OMIM:252500
HP:0004404	Abnormal nipple morphology	11253	MAN1B1		orphadata	ORPHA:397941
HP:0004404	Abnormal nipple morphology	3845	KRAS	-	mim2gene	OMIM:600268
HP:0004404	Abnormal nipple morphology	54499	TMCO1	-	mim2gene	OMIM:213980
HP:0004404	Abnormal nipple morphology	27315	PGAP2		orphadata	ORPHA:247262
HP:0004404	Abnormal nipple morphology	60675	PROK2		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	3643	INSR	-	mim2gene	OMIM:246200
HP:0004404	Abnormal nipple morphology	22931	RAB18	-	mim2gene	OMIM:614222
HP:0004404	Abnormal nipple morphology	9181	ARHGEF2	question	mim2gene	OMIM:617523
HP:0004404	Abnormal nipple morphology	5818	NECTIN1		orphadata	ORPHA:3253
HP:0004404	Abnormal nipple morphology	6595	SMARCA2		orphadata	ORPHA:3051
HP:0004404	Abnormal nipple morphology	284098	PIGW		orphadata	ORPHA:247262
HP:0004404	Abnormal nipple morphology	2798	GNRHR		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	84634	KISS1R		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	1349	COX7B	-	mim2gene	OMIM:300887
HP:0004404	Abnormal nipple morphology	9394	HS6ST1		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	91137	SLC25A46	-	mim2gene	OMIM:616505
HP:0004404	Abnormal nipple morphology	8517	IKBKG	-	mim2gene	OMIM:308300
HP:0004404	Abnormal nipple morphology	8216	LZTR1		orphadata	ORPHA:648
HP:0004404	Abnormal nipple morphology	78989	COLEC11		orphadata	ORPHA:293843
HP:0004404	Abnormal nipple morphology	1723	DHODH		orphadata	ORPHA:246
HP:0004404	Abnormal nipple morphology	91949	COG7	-	mim2gene	OMIM:608779
HP:0004404	Abnormal nipple morphology	55869	HDAC8		orphadata	ORPHA:199
HP:0004404	Abnormal nipple morphology	6736	SRY		orphadata	ORPHA:1772
HP:0004404	Abnormal nipple morphology	145173	B3GLCT	-	mim2gene	OMIM:261540
HP:0004404	Abnormal nipple morphology	55717	WDR11		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	9382	COG1	-	mim2gene	OMIM:611209
HP:0004404	Abnormal nipple morphology	23556	PIGN		orphadata	ORPHA:2059
HP:0004404	Abnormal nipple morphology	4081	MAB21L1	-	mim2gene	OMIM:618479
HP:0004404	Abnormal nipple morphology	10020	GNE	-	mim2gene	OMIM:269921
HP:0004404	Abnormal nipple morphology	10087	CERT1	-	mim2gene	OMIM:616351
HP:0004404	Abnormal nipple morphology	440138	ALG11	-	mim2gene	OMIM:613661
HP:0004404	Abnormal nipple morphology	284058	KANSL1	-	mim2gene	OMIM:610443
HP:0004404	Abnormal nipple morphology	4841	NONO		orphadata	ORPHA:466791
HP:0004404	Abnormal nipple morphology	673	BRAF		orphadata	ORPHA:648
HP:0004404	Abnormal nipple morphology	55636	CHD7		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	9896	FIG4	-	mim2gene	OMIM:216340
HP:0004404	Abnormal nipple morphology	2719	GPC3	-	mim2gene	OMIM:312870
HP:0004404	Abnormal nipple morphology	1723	DHODH	-	mim2gene	OMIM:263750
HP:0004404	Abnormal nipple morphology	9786	KIAA0586		orphadata	ORPHA:397715
HP:0004404	Abnormal nipple morphology	6870	TACR3		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	23028	KDM1A	-	mim2gene	OMIM:616728
HP:0004404	Abnormal nipple morphology	5826	ABCD4	-	mim2gene	OMIM:614857
HP:0004404	Abnormal nipple morphology	3480	IGF1R		orphadata	ORPHA:73273
HP:0004404	Abnormal nipple morphology	117581	TWIST2	-	mim2gene	OMIM:209885
HP:0004404	Abnormal nipple morphology	128178	EDARADD	-	mim2gene	OMIM:614941
HP:0004404	Abnormal nipple morphology	3480	IGF1R	-	mim2gene	OMIM:270450
HP:0004404	Abnormal nipple morphology	9469	CHST3	-	mim2gene	OMIM:143095
HP:0004404	Abnormal nipple morphology	8626	TP63		orphadata	ORPHA:1071
HP:0004404	Abnormal nipple morphology	2074	ERCC6	-	mim2gene	OMIM:214150
HP:0004404	Abnormal nipple morphology	136647	MPLKIP		orphadata	ORPHA:33364
HP:0004404	Abnormal nipple morphology	55780	ERMARD		orphadata	ORPHA:75857
HP:0004404	Abnormal nipple morphology	4000	LMNA		orphadata	ORPHA:740
HP:0004404	Abnormal nipple morphology	55690	PACS1	-	mim2gene	OMIM:615009
HP:0004404	Abnormal nipple morphology	1848	DUSP6		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	51604	PIGT	-	mim2gene	OMIM:615398
HP:0004404	Abnormal nipple morphology	2626	GATA4		orphadata	ORPHA:251071
HP:0004404	Abnormal nipple morphology	9487	PIGL		orphadata	ORPHA:247262
HP:0004404	Abnormal nipple morphology	9759	HDAC4		orphadata	ORPHA:1001
HP:0004404	Abnormal nipple morphology	144568	A2ML1		orphadata	ORPHA:648
HP:0004404	Abnormal nipple morphology	372	ARCN1	-	mim2gene	OMIM:617164
HP:0004404	Abnormal nipple morphology	6926	TBX3	-	mim2gene	OMIM:181450
HP:0004404	Abnormal nipple morphology	4297	KMT2A		orphadata	ORPHA:199
HP:0004404	Abnormal nipple morphology	84168	ANTXR1	-	mim2gene	OMIM:230740
HP:0004404	Abnormal nipple morphology	8295	TRRAP	-	mim2gene	OMIM:618454
HP:0004404	Abnormal nipple morphology	26040	SETBP1	-	mim2gene	OMIM:269150
HP:0004404	Abnormal nipple morphology	29957	SLC25A24	-	mim2gene	OMIM:612289
HP:0004404	Abnormal nipple morphology	1009	CDH11		orphadata	ORPHA:1299
HP:0004404	Abnormal nipple morphology	91869	RFT1	-	mim2gene	OMIM:612015
HP:0004404	Abnormal nipple morphology	8626	TP63	-	mim2gene	OMIM:604292
HP:0004404	Abnormal nipple morphology	84720	PIGO		orphadata	ORPHA:247262
HP:0004404	Abnormal nipple morphology	6926	TBX3		orphadata	ORPHA:3138
HP:0004404	Abnormal nipple morphology	7469	NELFA		orphadata	ORPHA:280
HP:0004404	Abnormal nipple morphology	3730	ANOS1		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	3954	LETM1		orphadata	ORPHA:280
HP:0004404	Abnormal nipple morphology	2071	ERCC3		orphadata	ORPHA:33364
HP:0004404	Abnormal nipple morphology	6925	TCF4		orphadata	ORPHA:2896
HP:0004404	Abnormal nipple morphology	3643	INSR		orphadata	ORPHA:508
HP:0004404	Abnormal nipple morphology	171023	ASXL1	-	mim2gene	OMIM:605039
HP:0004404	Abnormal nipple morphology	284252	KCTD1	-	mim2gene	OMIM:181270
HP:0004404	Abnormal nipple morphology	8626	TP63	-	mim2gene	OMIM:106260
HP:0004404	Abnormal nipple morphology	4191	MDH2	-	mim2gene	OMIM:617339
HP:0004404	Abnormal nipple morphology	9896	FIG4		orphadata	ORPHA:3472
HP:0004404	Abnormal nipple morphology	7355	SLC35A2		orphadata	ORPHA:356961
HP:0004404	Abnormal nipple morphology	27152	INTU	question	mim2gene	OMIM:617926
HP:0004404	Abnormal nipple morphology	7020	TFAP2A	-	mim2gene	OMIM:113620
HP:0004404	Abnormal nipple morphology	5648	MASP1		orphadata	ORPHA:293843
HP:0004404	Abnormal nipple morphology	128178	EDARADD	-	mim2gene	OMIM:614940
HP:0004404	Abnormal nipple morphology	54101	RIPK4	-	mim2gene	OMIM:263650
HP:0004404	Abnormal nipple morphology	1717	DHCR7		orphadata	ORPHA:818
HP:0004404	Abnormal nipple morphology	25836	NIPBL		orphadata	ORPHA:199
HP:0004404	Abnormal nipple morphology	2239	GPC4	-	mim2gene	OMIM:312870
HP:0004404	Abnormal nipple morphology	23394	ADNP		orphadata	ORPHA:404448
HP:0004404	Abnormal nipple morphology	8243	SMC1A		orphadata	ORPHA:199
HP:0004404	Abnormal nipple morphology	1376	CPT2	-	mim2gene	OMIM:608836
HP:0004404	Abnormal nipple morphology	1798	DPAGT1	-	mim2gene	OMIM:608093
HP:0004404	Abnormal nipple morphology	51322	WAC	-	mim2gene	OMIM:616708
HP:0004404	Abnormal nipple morphology	51	ACOX1	-	mim2gene	OMIM:264470
HP:0004404	Abnormal nipple morphology	5781	PTPN11		orphadata	ORPHA:648
HP:0004404	Abnormal nipple morphology	93210	PGAP3		orphadata	ORPHA:247262
HP:0004404	Abnormal nipple morphology	84231	TRAF7	-	mim2gene	OMIM:618164
HP:0004404	Abnormal nipple morphology	2239	GPC4		orphadata	ORPHA:373
HP:0004404	Abnormal nipple morphology	25782	RAB3GAP2	-	mim2gene	OMIM:212720
HP:0004404	Abnormal nipple morphology	9839	ZEB2	-	mim2gene	OMIM:235730
HP:0004404	Abnormal nipple morphology	473	RERE	-	mim2gene	OMIM:616975
HP:0004404	Abnormal nipple morphology	5885	RAD21		orphadata	ORPHA:199
HP:0004404	Abnormal nipple morphology	6655	SOS2		orphadata	ORPHA:648
HP:0004404	Abnormal nipple morphology	55975	KLHL7		orphadata	ORPHA:97297
HP:0004404	Abnormal nipple morphology	55697	VAC14		orphadata	ORPHA:3472
HP:0004404	Abnormal nipple morphology	91869	RFT1		orphadata	ORPHA:244310
HP:0004404	Abnormal nipple morphology	1896	EDA	-	mim2gene	OMIM:305100
HP:0004404	Abnormal nipple morphology	6925	TCF4		orphadata	ORPHA:2896
HP:0004404	Abnormal nipple morphology	6237	RRAS		orphadata	ORPHA:648
HP:0004404	Abnormal nipple morphology	1954	MEGF8	-	mim2gene	OMIM:614976
HP:0004404	Abnormal nipple morphology	79718	TBL1XR1	-	mim2gene	OMIM:602342
HP:0004404	Abnormal nipple morphology	55690	PACS1		orphadata	ORPHA:329224
HP:0004404	Abnormal nipple morphology	2146	EZH2	-	mim2gene	OMIM:277590
HP:0004404	Abnormal nipple morphology	22808	MRAS		orphadata	ORPHA:648
HP:0004404	Abnormal nipple morphology	5648	MASP1	-	mim2gene	OMIM:257920
HP:0004404	Abnormal nipple morphology	7476	WNT7A	-	mim2gene	OMIM:276820
HP:0004404	Abnormal nipple morphology	22845	DOLK		orphadata	ORPHA:91131
HP:0004404	Abnormal nipple morphology	7319	UBE2A		orphadata	ORPHA:163956
HP:0004404	Abnormal nipple morphology	2961	GTF2E2		orphadata	ORPHA:33364
HP:0004404	Abnormal nipple morphology	3814	KISS1		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	10269	ZMPSTE24		orphadata	ORPHA:740
HP:0004404	Abnormal nipple morphology	28952	CCDC22		orphadata	ORPHA:7
HP:0004404	Abnormal nipple morphology	80144	FRAS1	-	mim2gene	OMIM:219000
HP:0004404	Abnormal nipple morphology	284252	KCTD1		orphadata	ORPHA:2036
HP:0004404	Abnormal nipple morphology	2260	FGFR1		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	341640	FREM2		orphadata	ORPHA:2052
HP:0004404	Abnormal nipple morphology	57514	ARHGAP31	-	mim2gene	OMIM:100300
HP:0004404	Abnormal nipple morphology	150468	CKAP2L		orphadata	ORPHA:3255
HP:0004404	Abnormal nipple morphology	8822	FGF17		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	23426	GRIP1		orphadata	ORPHA:2052
HP:0004404	Abnormal nipple morphology	8239	USP9X		orphadata	ORPHA:480880
HP:0004404	Abnormal nipple morphology	7473	WNT3		orphadata	ORPHA:3301
HP:0004404	Abnormal nipple morphology	117581	TWIST2		orphadata	ORPHA:920
HP:0004404	Abnormal nipple morphology	340419	RSPO2		orphadata	ORPHA:3301
HP:0004404	Abnormal nipple morphology	7021	TFAP2B		orphadata	ORPHA:46627
HP:0004404	Abnormal nipple morphology	2719	GPC3		orphadata	ORPHA:373
HP:0004404	Abnormal nipple morphology	6942	TCF20	-	mim2gene	OMIM:618430
HP:0004404	Abnormal nipple morphology	4893	NRAS		orphadata	ORPHA:648
HP:0004404	Abnormal nipple morphology	8504	PEX3	question	mim2gene	OMIM:617370
HP:0004404	Abnormal nipple morphology	23522	KAT6B		orphadata	ORPHA:648
HP:0004404	Abnormal nipple morphology	117581	TWIST2		orphadata	ORPHA:1231
HP:0004404	Abnormal nipple morphology	128674	PROKR2		orphadata	ORPHA:432
HP:0004404	Abnormal nipple morphology	253738	EBF3	-	mim2gene	OMIM:617330
HP:0004404	Abnormal nipple morphology	8626	TP63		orphadata	ORPHA:978
HP:0004404	Abnormal nipple morphology	1009	CDH11	-	mim2gene	OMIM:211380
HP:0004404	Abnormal nipple morphology	79848	CSPP1		orphadata	ORPHA:397715
HP:0004404	Abnormal nipple morphology	60	ACTB		orphadata	ORPHA:64755
HP:0004404	Abnormal nipple morphology	8517	IKBKG		orphadata	ORPHA:464
HP:0004404	Abnormal nipple morphology	6016	RIT1		orphadata	ORPHA:648
HP:0004404	Abnormal nipple morphology	26128	KIFBP	-	mim2gene	OMIM:609460
HP:0004405	Prominent nipples	3643	INSR	-	mim2gene	OMIM:246200
HP:0004405	Prominent nipples	3643	INSR		orphadata	ORPHA:508
HP:0004405	Prominent nipples	25782	RAB3GAP2	-	mim2gene	OMIM:212720
HP:0004406	Spontaneous, recurrent epistaxis	4627	MYH9		orphadata	ORPHA:182050
HP:0004406	Spontaneous, recurrent epistaxis	2815	GP9		orphadata	ORPHA:274
HP:0004406	Spontaneous, recurrent epistaxis	3690	ITGB3		orphadata	ORPHA:849
HP:0004406	Spontaneous, recurrent epistaxis	94	ACVRL1	-	mim2gene	OMIM:600376
HP:0004406	Spontaneous, recurrent epistaxis	6714	SRC	question	mim2gene	OMIM:616937
HP:0004406	Spontaneous, recurrent epistaxis	2658	GDF2	-	mim2gene	OMIM:615506
HP:0004406	Spontaneous, recurrent epistaxis	2812	GP1BB		orphadata	ORPHA:274
HP:0004406	Spontaneous, recurrent epistaxis	2022	ENG	-	mim2gene	OMIM:187300
HP:0004406	Spontaneous, recurrent epistaxis	3674	ITGA2B		orphadata	ORPHA:849
HP:0004406	Spontaneous, recurrent epistaxis	2811	GP1BA		orphadata	ORPHA:274
HP:0004407	Bony paranasal bossing	2697	GJA1	-	mim2gene	OMIM:218400
HP:0004407	Bony paranasal bossing	56172	ANKH	-	mim2gene	OMIM:123000
HP:0004408	Abnormality of the sense of smell	5264	PHYH		orphadata	ORPHA:773
HP:0004408	Abnormality of the sense of smell	5015	OTX2		orphadata	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	2260	FGFR1		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	5191	PEX7	-	mim2gene	OMIM:266500
HP:0004408	Abnormality of the sense of smell	6622	SNCA		orphadata	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	23317	DNAJC13		orphadata	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	6598	SMARCB1		orphadata	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	23516	SLC39A14	question	mim2gene	OMIM:144755
HP:0004408	Abnormality of the sense of smell	285025	CCDC141		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	60675	PROK2		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	2260	FGFR1		orphadata	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	6662	SOX9		orphadata	ORPHA:140
HP:0004408	Abnormality of the sense of smell	23129	PLXND1		orphadata	ORPHA:570
HP:0004408	Abnormality of the sense of smell	4771	NF2		orphadata	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	54832	VPS13C		orphadata	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	3730	ANOS1		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	2260	FGFR1	-	mim2gene	OMIM:147950
HP:0004408	Abnormality of the sense of smell	6342	SCP2	question	mim2gene	OMIM:613724
HP:0004408	Abnormality of the sense of smell	23767	FLRT3		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	109	ADCY3	susceptibility	mim2gene	OMIM:617885
HP:0004408	Abnormality of the sense of smell	23347	SMCHD1		orphadata	ORPHA:2250
HP:0004408	Abnormality of the sense of smell	55636	CHD7		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	10371	SEMA3A	susceptibility	mim2gene	OMIM:614897
HP:0004408	Abnormality of the sense of smell	6866	TAC3	-	mim2gene	OMIM:614839
HP:0004408	Abnormality of the sense of smell	26012	NSMF	-	mim2gene	OMIM:614838
HP:0004408	Abnormality of the sense of smell	6622	SNCA		orphadata	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	128674	PROKR2		orphadata	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	6663	SOX10	-	mim2gene	OMIM:609136
HP:0004408	Abnormality of the sense of smell	219844	HYLS1		orphadata	ORPHA:2189
HP:0004408	Abnormality of the sense of smell	23347	SMCHD1	-	mim2gene	OMIM:603457
HP:0004408	Abnormality of the sense of smell	2796	GNRH1	question	mim2gene	OMIM:614841
HP:0004408	Abnormality of the sense of smell	55717	WDR11		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	5071	PRKN		orphadata	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	2301	FOXE3		orphadata	ORPHA:88632
HP:0004408	Abnormality of the sense of smell	286	ANK1		orphadata	ORPHA:251066
HP:0004408	Abnormality of the sense of smell	55636	CHD7	-	mim2gene	OMIM:214800
HP:0004408	Abnormality of the sense of smell	9723	SEMA3E	question	mim2gene	OMIM:214800
HP:0004408	Abnormality of the sense of smell	9829	DNAJC6		orphadata	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	6663	SOX10		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	1630	DCC		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	120892	LRRK2		orphadata	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	65018	PINK1		orphadata	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	26012	NSMF		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	6663	SOX10	-	mim2gene	OMIM:613266
HP:0004408	Abnormality of the sense of smell	2629	GBA		orphadata	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	5191	PEX7		orphadata	ORPHA:773
HP:0004408	Abnormality of the sense of smell	10371	SEMA3A		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	6663	SOX10	-	mim2gene	OMIM:611584
HP:0004408	Abnormality of the sense of smell	285025	CCDC141		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	60675	PROK2	-	mim2gene	OMIM:610628
HP:0004408	Abnormality of the sense of smell	55636	CHD7	-	mim2gene	OMIM:612370
HP:0004408	Abnormality of the sense of smell	54756	IL17RD	-	mim2gene	OMIM:615267
HP:0004408	Abnormality of the sense of smell	84634	KISS1R		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	8820	HESX1		orphadata	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	9394	HS6ST1		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	128674	PROKR2		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	374654	KIF7		orphadata	ORPHA:2189
HP:0004408	Abnormality of the sense of smell	1848	DUSP6		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	9927	MFN2	-	mim2gene	OMIM:601152
HP:0004408	Abnormality of the sense of smell	8643	PTCH2		orphadata	ORPHA:377
HP:0004408	Abnormality of the sense of smell	10194	TSHZ1	-	mim2gene	OMIM:607842
HP:0004408	Abnormality of the sense of smell	2253	FGF8		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	7345	UCHL1		orphadata	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	51684	SUFU		orphadata	ORPHA:377
HP:0004408	Abnormality of the sense of smell	120892	LRRK2	susceptibility	mim2gene	OMIM:607060
HP:0004408	Abnormality of the sense of smell	26058	GIGYF2		orphadata	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	8820	HESX1		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	11315	PARK7		orphadata	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	5191	PEX7	-	mim2gene	OMIM:614879
HP:0004408	Abnormality of the sense of smell	415	ARSL	-	mim2gene	OMIM:302950
HP:0004408	Abnormality of the sense of smell	80184	CEP290	-	mim2gene	OMIM:611755
HP:0004408	Abnormality of the sense of smell	5155	PDGFB		orphadata	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	120892	LRRK2		orphadata	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	6335	SCN9A	-	mim2gene	OMIM:243000
HP:0004408	Abnormality of the sense of smell	5980	REV3L		orphadata	ORPHA:570
HP:0004408	Abnormality of the sense of smell	27019	DNAI1	-	mim2gene	OMIM:244400
HP:0004408	Abnormality of the sense of smell	54756	IL17RD		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	81848	SPRY4		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	389549	FEZF1		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	9723	SEMA3E		orphadata	ORPHA:138
HP:0004408	Abnormality of the sense of smell	3814	KISS1	question	mim2gene	OMIM:614842
HP:0004408	Abnormality of the sense of smell	6870	TACR3		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	5264	PHYH	-	mim2gene	OMIM:266500
HP:0004408	Abnormality of the sense of smell	6469	SHH	-	mim2gene	OMIM:147250
HP:0004408	Abnormality of the sense of smell	51684	SUFU		orphadata	ORPHA:2495
HP:0004408	Abnormality of the sense of smell	3730	ANOS1	-	mim2gene	OMIM:308700
HP:0004408	Abnormality of the sense of smell	5420	PODXL		orphadata	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	55636	CHD7		orphadata	ORPHA:138
HP:0004408	Abnormality of the sense of smell	27429	HTRA2		orphadata	ORPHA:2828
HP:0004408	Abnormality of the sense of smell	1981	EIF4G1		orphadata	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	6658	SOX3		orphadata	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	5727	PTCH1		orphadata	ORPHA:377
HP:0004408	Abnormality of the sense of smell	55717	WDR11	-	mim2gene	OMIM:614858
HP:0004408	Abnormality of the sense of smell	128674	PROKR2	-	mim2gene	OMIM:244200
HP:0004408	Abnormality of the sense of smell	5781	PTPN11	-	mim2gene	OMIM:151100
HP:0004408	Abnormality of the sense of smell	11020	IFT27	question	mim2gene	OMIM:615996
HP:0004408	Abnormality of the sense of smell	55737	VPS35		orphadata	ORPHA:411602
HP:0004408	Abnormality of the sense of smell	389549	FEZF1	-	mim2gene	OMIM:616030
HP:0004408	Abnormality of the sense of smell	9915	ARNT2		orphadata	ORPHA:3157
HP:0004408	Abnormality of the sense of smell	8822	FGF17		orphadata	ORPHA:478
HP:0004408	Abnormality of the sense of smell	84634	KISS1R	-	mim2gene	OMIM:614837
HP:0004408	Abnormality of the sense of smell	538	ATP7A		orphadata	ORPHA:198
HP:0004408	Abnormality of the sense of smell	23400	ATP13A2	-	mim2gene	OMIM:606693
HP:0004408	Abnormality of the sense of smell	2253	FGF8	-	mim2gene	OMIM:612702
HP:0004408	Abnormality of the sense of smell	6657	SOX2		orphadata	ORPHA:3157
HP:0004409	Hyposmia	54756	IL17RD	-	mim2gene	OMIM:615267
HP:0004409	Hyposmia	84634	KISS1R		orphadata	ORPHA:478
HP:0004409	Hyposmia	2260	FGFR1		orphadata	ORPHA:478
HP:0004409	Hyposmia	9394	HS6ST1		orphadata	ORPHA:478
HP:0004409	Hyposmia	128674	PROKR2		orphadata	ORPHA:478
HP:0004409	Hyposmia	6622	SNCA		orphadata	ORPHA:2828
HP:0004409	Hyposmia	23317	DNAJC13		orphadata	ORPHA:411602
HP:0004409	Hyposmia	23516	SLC39A14	question	mim2gene	OMIM:144755
HP:0004409	Hyposmia	1848	DUSP6		orphadata	ORPHA:478
HP:0004409	Hyposmia	285025	CCDC141		orphadata	ORPHA:478
HP:0004409	Hyposmia	60675	PROK2		orphadata	ORPHA:478
HP:0004409	Hyposmia	54832	VPS13C		orphadata	ORPHA:2828
HP:0004409	Hyposmia	10194	TSHZ1	-	mim2gene	OMIM:607842
HP:0004409	Hyposmia	3730	ANOS1		orphadata	ORPHA:478
HP:0004409	Hyposmia	2253	FGF8		orphadata	ORPHA:478
HP:0004409	Hyposmia	7345	UCHL1		orphadata	ORPHA:2828
HP:0004409	Hyposmia	120892	LRRK2	susceptibility	mim2gene	OMIM:607060
HP:0004409	Hyposmia	26058	GIGYF2		orphadata	ORPHA:411602
HP:0004409	Hyposmia	6342	SCP2	question	mim2gene	OMIM:613724
HP:0004409	Hyposmia	23767	FLRT3		orphadata	ORPHA:478
HP:0004409	Hyposmia	8820	HESX1		orphadata	ORPHA:478
HP:0004409	Hyposmia	109	ADCY3	susceptibility	mim2gene	OMIM:617885
HP:0004409	Hyposmia	11315	PARK7		orphadata	ORPHA:2828
HP:0004409	Hyposmia	23347	SMCHD1		orphadata	ORPHA:2250
HP:0004409	Hyposmia	55636	CHD7		orphadata	ORPHA:478
HP:0004409	Hyposmia	10371	SEMA3A	susceptibility	mim2gene	OMIM:614897
HP:0004409	Hyposmia	26012	NSMF	-	mim2gene	OMIM:614838
HP:0004409	Hyposmia	6622	SNCA		orphadata	ORPHA:411602
HP:0004409	Hyposmia	80184	CEP290	-	mim2gene	OMIM:611755
HP:0004409	Hyposmia	23347	SMCHD1	-	mim2gene	OMIM:603457
HP:0004409	Hyposmia	120892	LRRK2		orphadata	ORPHA:2828
HP:0004409	Hyposmia	6335	SCN9A	-	mim2gene	OMIM:243000
HP:0004409	Hyposmia	55717	WDR11		orphadata	ORPHA:478
HP:0004409	Hyposmia	5071	PRKN		orphadata	ORPHA:2828
HP:0004409	Hyposmia	54756	IL17RD		orphadata	ORPHA:478
HP:0004409	Hyposmia	81848	SPRY4		orphadata	ORPHA:478
HP:0004409	Hyposmia	389549	FEZF1		orphadata	ORPHA:478
HP:0004409	Hyposmia	6870	TACR3		orphadata	ORPHA:478
HP:0004409	Hyposmia	9829	DNAJC6		orphadata	ORPHA:2828
HP:0004409	Hyposmia	6663	SOX10		orphadata	ORPHA:478
HP:0004409	Hyposmia	1630	DCC		orphadata	ORPHA:478
HP:0004409	Hyposmia	120892	LRRK2		orphadata	ORPHA:411602
HP:0004409	Hyposmia	3730	ANOS1	-	mim2gene	OMIM:308700
HP:0004409	Hyposmia	65018	PINK1		orphadata	ORPHA:2828
HP:0004409	Hyposmia	5420	PODXL		orphadata	ORPHA:2828
HP:0004409	Hyposmia	27429	HTRA2		orphadata	ORPHA:2828
HP:0004409	Hyposmia	1981	EIF4G1		orphadata	ORPHA:411602
HP:0004409	Hyposmia	26012	NSMF		orphadata	ORPHA:478
HP:0004409	Hyposmia	2629	GBA		orphadata	ORPHA:411602
HP:0004409	Hyposmia	5781	PTPN11	-	mim2gene	OMIM:151100
HP:0004409	Hyposmia	11020	IFT27	question	mim2gene	OMIM:615996
HP:0004409	Hyposmia	10371	SEMA3A		orphadata	ORPHA:478
HP:0004409	Hyposmia	55737	VPS35		orphadata	ORPHA:411602
HP:0004409	Hyposmia	8822	FGF17		orphadata	ORPHA:478
HP:0004409	Hyposmia	285025	CCDC141		orphadata	ORPHA:478
HP:0004409	Hyposmia	23400	ATP13A2	-	mim2gene	OMIM:606693
HP:0004409	Hyposmia	2253	FGF8	-	mim2gene	OMIM:612702
HP:0004411	Deviated nasal septum	4763	NF1		orphadata	ORPHA:139474
HP:0004411	Deviated nasal septum	4841	NONO	-	mim2gene	OMIM:300967
HP:0004411	Deviated nasal septum	1387	CREBBP	-	mim2gene	OMIM:180849
HP:0004411	Deviated nasal septum	5053	PAH		orphadata	ORPHA:2209
HP:0004411	Deviated nasal septum	2033	EP300	-	mim2gene	OMIM:180849
HP:0004414	Abnormality of the pulmonary artery	9652	TTC37		orphadata	ORPHA:84064
HP:0004414	Abnormality of the pulmonary artery	3977	LIFR	-	mim2gene	OMIM:601559
HP:0004414	Abnormality of the pulmonary artery	64919	BCL11B	-	mim2gene	OMIM:617237
HP:0004414	Abnormality of the pulmonary artery	2969	GTF2I		orphadata	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	8600	TNFSF11		orphadata	ORPHA:667
HP:0004414	Abnormality of the pulmonary artery	92002	CCNQ	-	mim2gene	OMIM:300707
HP:0004414	Abnormality of the pulmonary artery	9031	BAZ1B		orphadata	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	81031	SLC2A10	-	mim2gene	OMIM:208050
HP:0004414	Abnormality of the pulmonary artery	3845	KRAS		orphadata	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	57514	ARHGAP31		orphadata	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	5922	RASA2		orphadata	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	78987	CRELD1	-	mim2gene	OMIM:606217
HP:0004414	Abnormality of the pulmonary artery	64220	STRA6	-	mim2gene	OMIM:601186
HP:0004414	Abnormality of the pulmonary artery	4000	LMNA		orphadata	ORPHA:79474
HP:0004414	Abnormality of the pulmonary artery	8772	FADD	-	mim2gene	OMIM:613759
HP:0004414	Abnormality of the pulmonary artery	9487	PIGL	-	mim2gene	OMIM:280000
HP:0004414	Abnormality of the pulmonary artery	6654	SOS1		orphadata	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	5982	RFC2		orphadata	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	633	BGN	-	mim2gene	OMIM:300989
HP:0004414	Abnormality of the pulmonary artery	2626	GATA4		orphadata	ORPHA:251071
HP:0004414	Abnormality of the pulmonary artery	5894	RAF1		orphadata	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	8260	NAA10		orphadata	ORPHA:276432
HP:0004414	Abnormality of the pulmonary artery	2657	GDF1	-	mim2gene	OMIM:613854
HP:0004414	Abnormality of the pulmonary artery	144568	A2ML1		orphadata	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	4851	NOTCH1		orphadata	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	1482	NKX2-5	-	mim2gene	OMIM:108900
HP:0004414	Abnormality of the pulmonary artery	57572	DOCK6		orphadata	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	6899	TBX1	-	mim2gene	OMIM:192430
HP:0004414	Abnormality of the pulmonary artery	6499	SKIV2L		orphadata	ORPHA:84064
HP:0004414	Abnormality of the pulmonary artery	6663	SOX10		orphadata	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	9569	GTF2IRD1		orphadata	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	7046	TGFBR1	-	mim2gene	OMIM:609192
HP:0004414	Abnormality of the pulmonary artery	54880	BCOR		orphadata	ORPHA:2712
HP:0004414	Abnormality of the pulmonary artery	5422	POLA1	-	mim2gene	OMIM:301030
HP:0004414	Abnormality of the pulmonary artery	1910	EDNRB		orphadata	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	2627	GATA6		orphadata	ORPHA:2255
HP:0004414	Abnormality of the pulmonary artery	92002	CCNQ		orphadata	ORPHA:140952
HP:0004414	Abnormality of the pulmonary artery	29887	SNX10		orphadata	ORPHA:667
HP:0004414	Abnormality of the pulmonary artery	1857	DVL3	-	mim2gene	OMIM:616894
HP:0004414	Abnormality of the pulmonary artery	22800	RRAS2		orphadata	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	6134	RPL10		orphadata	ORPHA:435938
HP:0004414	Abnormality of the pulmonary artery	5781	PTPN11		orphadata	ORPHA:500
HP:0004414	Abnormality of the pulmonary artery	2200	FBN1	-	mim2gene	OMIM:154700
HP:0004414	Abnormality of the pulmonary artery	3984	LIMK1		orphadata	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	8772	FADD		orphadata	ORPHA:306550
HP:0004414	Abnormality of the pulmonary artery	659	BMPR2	-	mim2gene	OMIM:178600
HP:0004414	Abnormality of the pulmonary artery	81031	SLC2A10		orphadata	ORPHA:3342
HP:0004414	Abnormality of the pulmonary artery	4256	MGP	-	mim2gene	OMIM:245150
HP:0004414	Abnormality of the pulmonary artery	8260	NAA10	-	mim2gene	OMIM:300855
HP:0004414	Abnormality of the pulmonary artery	3708	ITPR1		orphadata	ORPHA:1065
HP:0004414	Abnormality of the pulmonary artery	6591	SNAI2		orphadata	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	9993	DGCR2	-	mim2gene	OMIM:192430
HP:0004414	Abnormality of the pulmonary artery	5781	PTPN11		orphadata	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	168507	PKD1L1	-	mim2gene	OMIM:617205
HP:0004414	Abnormality of the pulmonary artery	23556	PIGN		orphadata	ORPHA:280633
HP:0004414	Abnormality of the pulmonary artery	145173	B3GLCT		orphadata	ORPHA:709
HP:0004414	Abnormality of the pulmonary artery	4853	NOTCH2	-	mim2gene	OMIM:610205
HP:0004414	Abnormality of the pulmonary artery	9839	ZEB2	-	mim2gene	OMIM:235730
HP:0004414	Abnormality of the pulmonary artery	182	JAG1	-	mim2gene	OMIM:118450
HP:0004414	Abnormality of the pulmonary artery	51085	MLXIPL	-	mim2gene	OMIM:194050
HP:0004414	Abnormality of the pulmonary artery	1186	CLCN7		orphadata	ORPHA:667
HP:0004414	Abnormality of the pulmonary artery	7461	CLIP2		orphadata	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	5080	PAX6		orphadata	ORPHA:1065
HP:0004414	Abnormality of the pulmonary artery	9772	TMEM94	-	mim2gene	OMIM:618316
HP:0004414	Abnormality of the pulmonary artery	2657	GDF1	-	mim2gene	OMIM:208530
HP:0004414	Abnormality of the pulmonary artery	54487	DGCR8	-	mim2gene	OMIM:192430
HP:0004414	Abnormality of the pulmonary artery	285203	EOGT		orphadata	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	6655	SOS2		orphadata	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	54361	WNT4	question	mim2gene	OMIM:611812
HP:0004414	Abnormality of the pulmonary artery	2006	ELN		orphadata	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	6237	RRAS		orphadata	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	30008	EFEMP2	-	mim2gene	OMIM:614437
HP:0004414	Abnormality of the pulmonary artery	8220	ESS2	-	mim2gene	OMIM:192430
HP:0004414	Abnormality of the pulmonary artery	22808	MRAS		orphadata	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	55109	AGGF1		orphadata	ORPHA:90308
HP:0004414	Abnormality of the pulmonary artery	1482	NKX2-5	-	mim2gene	OMIM:614432
HP:0004414	Abnormality of the pulmonary artery	7319	UBE2A		orphadata	ORPHA:163956
HP:0004414	Abnormality of the pulmonary artery	3516	RBPJ		orphadata	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	118856	MMP21	-	mim2gene	OMIM:616749
HP:0004414	Abnormality of the pulmonary artery	10293	TRAIP	-	mim2gene	OMIM:616777
HP:0004414	Abnormality of the pulmonary artery	5500	PPP1CB	-	mim2gene	OMIM:617506
HP:0004414	Abnormality of the pulmonary artery	8216	LZTR1		orphadata	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	26608	TBL2		orphadata	ORPHA:904
HP:0004414	Abnormality of the pulmonary artery	4286	MITF		orphadata	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	5894	RAF1		orphadata	ORPHA:500
HP:0004414	Abnormality of the pulmonary artery	673	BRAF		orphadata	ORPHA:500
HP:0004414	Abnormality of the pulmonary artery	57514	ARHGAP31	-	mim2gene	OMIM:100300
HP:0004414	Abnormality of the pulmonary artery	2006	ELN	-	mim2gene	OMIM:194050
HP:0004414	Abnormality of the pulmonary artery	8214	DGCR6	-	mim2gene	OMIM:192430
HP:0004414	Abnormality of the pulmonary artery	7486	WRN		orphadata	ORPHA:902
HP:0004414	Abnormality of the pulmonary artery	4625	MYH7	-	mim2gene	OMIM:613426
HP:0004414	Abnormality of the pulmonary artery	4893	NRAS		orphadata	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	10312	TCIRG1		orphadata	ORPHA:667
HP:0004414	Abnormality of the pulmonary artery	23522	KAT6B		orphadata	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	7048	TGFBR2	-	mim2gene	OMIM:610168
HP:0004414	Abnormality of the pulmonary artery	4256	MGP		orphadata	ORPHA:85202
HP:0004414	Abnormality of the pulmonary artery	54567	DLL4		orphadata	ORPHA:974
HP:0004414	Abnormality of the pulmonary artery	2627	GATA6	-	mim2gene	OMIM:600001
HP:0004414	Abnormality of the pulmonary artery	2006	ELN	-	mim2gene	OMIM:185500
HP:0004414	Abnormality of the pulmonary artery	112752	IFT43	question	mim2gene	OMIM:614099
HP:0004414	Abnormality of the pulmonary artery	10491	CRTAP	-	mim2gene	OMIM:610682
HP:0004414	Abnormality of the pulmonary artery	4000	LMNA		orphadata	ORPHA:363618
HP:0004414	Abnormality of the pulmonary artery	2260	FGFR1	-	mim2gene	OMIM:613001
HP:0004414	Abnormality of the pulmonary artery	1281	COL3A1		orphadata	ORPHA:286
HP:0004414	Abnormality of the pulmonary artery	8425	LTBP4	-	mim2gene	OMIM:613177
HP:0004414	Abnormality of the pulmonary artery	4254	KITLG		orphadata	ORPHA:895
HP:0004414	Abnormality of the pulmonary artery	673	BRAF		orphadata	ORPHA:648
HP:0004414	Abnormality of the pulmonary artery	10082	GPC6	-	mim2gene	OMIM:258315
HP:0004414	Abnormality of the pulmonary artery	6016	RIT1		orphadata	ORPHA:648
HP:0004415	Pulmonary artery stenosis	9652	TTC37		orphadata	ORPHA:84064
HP:0004415	Pulmonary artery stenosis	64919	BCL11B	-	mim2gene	OMIM:617237
HP:0004415	Pulmonary artery stenosis	2969	GTF2I		orphadata	ORPHA:904
HP:0004415	Pulmonary artery stenosis	5781	PTPN11		orphadata	ORPHA:648
HP:0004415	Pulmonary artery stenosis	8600	TNFSF11		orphadata	ORPHA:667
HP:0004415	Pulmonary artery stenosis	92002	CCNQ	-	mim2gene	OMIM:300707
HP:0004415	Pulmonary artery stenosis	23556	PIGN		orphadata	ORPHA:280633
HP:0004415	Pulmonary artery stenosis	4853	NOTCH2	-	mim2gene	OMIM:610205
HP:0004415	Pulmonary artery stenosis	9031	BAZ1B		orphadata	ORPHA:904
HP:0004415	Pulmonary artery stenosis	9839	ZEB2	-	mim2gene	OMIM:235730
HP:0004415	Pulmonary artery stenosis	81031	SLC2A10	-	mim2gene	OMIM:208050
HP:0004415	Pulmonary artery stenosis	182	JAG1	-	mim2gene	OMIM:118450
HP:0004415	Pulmonary artery stenosis	3845	KRAS		orphadata	ORPHA:648
HP:0004415	Pulmonary artery stenosis	51085	MLXIPL	-	mim2gene	OMIM:194050
HP:0004415	Pulmonary artery stenosis	5922	RASA2		orphadata	ORPHA:648
HP:0004415	Pulmonary artery stenosis	1186	CLCN7		orphadata	ORPHA:667
HP:0004415	Pulmonary artery stenosis	7461	CLIP2		orphadata	ORPHA:904
HP:0004415	Pulmonary artery stenosis	6655	SOS2		orphadata	ORPHA:648
HP:0004415	Pulmonary artery stenosis	9487	PIGL	-	mim2gene	OMIM:280000
HP:0004415	Pulmonary artery stenosis	54361	WNT4	question	mim2gene	OMIM:611812
HP:0004415	Pulmonary artery stenosis	2006	ELN		orphadata	ORPHA:904
HP:0004415	Pulmonary artery stenosis	6237	RRAS		orphadata	ORPHA:648
HP:0004415	Pulmonary artery stenosis	6654	SOS1		orphadata	ORPHA:648
HP:0004415	Pulmonary artery stenosis	5982	RFC2		orphadata	ORPHA:904
HP:0004415	Pulmonary artery stenosis	22808	MRAS		orphadata	ORPHA:648
HP:0004415	Pulmonary artery stenosis	1482	NKX2-5	-	mim2gene	OMIM:614432
HP:0004415	Pulmonary artery stenosis	2626	GATA4		orphadata	ORPHA:251071
HP:0004415	Pulmonary artery stenosis	5894	RAF1		orphadata	ORPHA:648
HP:0004415	Pulmonary artery stenosis	7319	UBE2A		orphadata	ORPHA:163956
HP:0004415	Pulmonary artery stenosis	8260	NAA10		orphadata	ORPHA:276432
HP:0004415	Pulmonary artery stenosis	144568	A2ML1		orphadata	ORPHA:648
HP:0004415	Pulmonary artery stenosis	5500	PPP1CB	-	mim2gene	OMIM:617506
HP:0004415	Pulmonary artery stenosis	8216	LZTR1		orphadata	ORPHA:648
HP:0004415	Pulmonary artery stenosis	26608	TBL2		orphadata	ORPHA:904
HP:0004415	Pulmonary artery stenosis	6499	SKIV2L		orphadata	ORPHA:84064
HP:0004415	Pulmonary artery stenosis	9569	GTF2IRD1		orphadata	ORPHA:904
HP:0004415	Pulmonary artery stenosis	54880	BCOR		orphadata	ORPHA:2712
HP:0004415	Pulmonary artery stenosis	5422	POLA1	-	mim2gene	OMIM:301030
HP:0004415	Pulmonary artery stenosis	57514	ARHGAP31	-	mim2gene	OMIM:100300
HP:0004415	Pulmonary artery stenosis	2006	ELN	-	mim2gene	OMIM:194050
HP:0004415	Pulmonary artery stenosis	2627	GATA6		orphadata	ORPHA:2255
HP:0004415	Pulmonary artery stenosis	92002	CCNQ		orphadata	ORPHA:140952
HP:0004415	Pulmonary artery stenosis	29887	SNX10		orphadata	ORPHA:667
HP:0004415	Pulmonary artery stenosis	7486	WRN		orphadata	ORPHA:902
HP:0004415	Pulmonary artery stenosis	22800	RRAS2		orphadata	ORPHA:648
HP:0004415	Pulmonary artery stenosis	6134	RPL10		orphadata	ORPHA:435938
HP:0004415	Pulmonary artery stenosis	4893	NRAS		orphadata	ORPHA:648
HP:0004415	Pulmonary artery stenosis	10312	TCIRG1		orphadata	ORPHA:667
HP:0004415	Pulmonary artery stenosis	23522	KAT6B		orphadata	ORPHA:648
HP:0004415	Pulmonary artery stenosis	4256	MGP		orphadata	ORPHA:85202
HP:0004415	Pulmonary artery stenosis	3984	LIMK1		orphadata	ORPHA:904
HP:0004415	Pulmonary artery stenosis	2627	GATA6	-	mim2gene	OMIM:600001
HP:0004415	Pulmonary artery stenosis	2006	ELN	-	mim2gene	OMIM:185500
HP:0004415	Pulmonary artery stenosis	81031	SLC2A10		orphadata	ORPHA:3342
HP:0004415	Pulmonary artery stenosis	112752	IFT43	question	mim2gene	OMIM:614099
HP:0004415	Pulmonary artery stenosis	4256	MGP	-	mim2gene	OMIM:245150
HP:0004415	Pulmonary artery stenosis	2260	FGFR1	-	mim2gene	OMIM:613001
HP:0004415	Pulmonary artery stenosis	8425	LTBP4	-	mim2gene	OMIM:613177
HP:0004415	Pulmonary artery stenosis	8260	NAA10	-	mim2gene	OMIM:300855
HP:0004415	Pulmonary artery stenosis	673	BRAF		orphadata	ORPHA:648
HP:0004415	Pulmonary artery stenosis	10082	GPC6	-	mim2gene	OMIM:258315
HP:0004415	Pulmonary artery stenosis	6016	RIT1		orphadata	ORPHA:648
HP:0004416	Precocious atherosclerosis	64241	ABCG8		orphadata	ORPHA:391665
HP:0004416	Precocious atherosclerosis	26119	LDLRAP1		orphadata	ORPHA:391665
HP:0004416	Precocious atherosclerosis	3949	LDLR		orphadata	ORPHA:391665
HP:0004416	Precocious atherosclerosis	116519	APOA5	susceptibility	mim2gene	OMIM:145750
HP:0004416	Precocious atherosclerosis	4000	LMNA	-	mim2gene	OMIM:176670
HP:0004416	Precocious atherosclerosis	255738	PCSK9		orphadata	ORPHA:391665
HP:0004416	Precocious atherosclerosis	7148	TNXB		orphadata	ORPHA:230839
HP:0004416	Precocious atherosclerosis	4000	LMNA		orphadata	ORPHA:280365
HP:0004416	Precocious atherosclerosis	338	APOB		orphadata	ORPHA:391665
HP:0004416	Precocious atherosclerosis	64240	ABCG5		orphadata	ORPHA:391665
HP:0004417	Intermittent claudication	189	AGXT	-	mim2gene	OMIM:259900
HP:0004417	Intermittent claudication	368	ABCC6	-	mim2gene	OMIM:264800
HP:0004417	Intermittent claudication	4352	MPL		orphadata	ORPHA:729
HP:0004417	Intermittent claudication	4000	LMNA		orphadata	ORPHA:740
HP:0004417	Intermittent claudication	64131	XYLT1	susceptibility; modifier	mim2gene	OMIM:264800
HP:0004417	Intermittent claudication	54790	TET2		orphadata	ORPHA:729
HP:0004417	Intermittent claudication	10269	ZMPSTE24		orphadata	ORPHA:740
HP:0004417	Intermittent claudication	64132	XYLT2	susceptibility; modifier	mim2gene	OMIM:264800
HP:0004417	Intermittent claudication	3717	JAK2		orphadata	ORPHA:729
HP:0004418	Thrombophlebitis	5624	PROC	-	mim2gene	OMIM:612304
HP:0004418	Thrombophlebitis	3026	HABP2	susceptibility	mim2gene	OMIM:188050
HP:0004418	Thrombophlebitis	462	SERPINC1	-	mim2gene	OMIM:613118
HP:0004418	Thrombophlebitis	2147	F2	-	mim2gene	OMIM:188050
HP:0004418	Thrombophlebitis	5728	PTEN		orphadata	ORPHA:744
HP:0004418	Thrombophlebitis	462	SERPINC1		orphadata	ORPHA:82
HP:0004418	Thrombophlebitis	5627	PROS1	-	mim2gene	OMIM:612336
HP:0004418	Thrombophlebitis	207	AKT1		orphadata	ORPHA:744
HP:0004418	Thrombophlebitis	5627	PROS1		orphadata	ORPHA:743
HP:0004418	Thrombophlebitis	4524	MTHFR	susceptibility	mim2gene	OMIM:188050
HP:0004418	Thrombophlebitis	5624	PROC	-	mim2gene	OMIM:176860
HP:0004418	Thrombophlebitis	2162	F13A1	susceptibility	mim2gene	OMIM:188050
HP:0004418	Thrombophlebitis	5627	PROS1	-	mim2gene	OMIM:614514
HP:0004419	Recurrent thrombophlebitis	3026	HABP2	susceptibility	mim2gene	OMIM:188050
HP:0004419	Recurrent thrombophlebitis	462	SERPINC1	-	mim2gene	OMIM:613118
HP:0004419	Recurrent thrombophlebitis	2147	F2	-	mim2gene	OMIM:188050
HP:0004419	Recurrent thrombophlebitis	2162	F13A1	susceptibility	mim2gene	OMIM:188050
HP:0004419	Recurrent thrombophlebitis	4524	MTHFR	susceptibility	mim2gene	OMIM:188050
HP:0004420	Arterial thrombosis	4352	MPL		orphadata	ORPHA:729
HP:0004420	Arterial thrombosis	7099	TLR4		orphadata	ORPHA:117
HP:0004420	Arterial thrombosis	4352	MPL		orphadata	ORPHA:3318
HP:0004420	Arterial thrombosis	4352	MPL		orphadata	ORPHA:71493
HP:0004420	Arterial thrombosis	720	C4A		orphadata	ORPHA:117
HP:0004420	Arterial thrombosis	9103	FCGR2C		orphadata	ORPHA:3002
HP:0004420	Arterial thrombosis	26191	PTPN22		orphadata	ORPHA:397
HP:0004420	Arterial thrombosis	462	SERPINC1		orphadata	ORPHA:82
HP:0004420	Arterial thrombosis	101928376	IL12A-AS1		orphadata	ORPHA:117
HP:0004420	Arterial thrombosis	7066	THPO		orphadata	ORPHA:71493
HP:0004420	Arterial thrombosis	207	AKT1		orphadata	ORPHA:744
HP:0004420	Arterial thrombosis	6775	STAT4		orphadata	ORPHA:117
HP:0004420	Arterial thrombosis	1230	CCR1		orphadata	ORPHA:117
HP:0004420	Arterial thrombosis	811	CALR		orphadata	ORPHA:3318
HP:0004420	Arterial thrombosis	3592	IL12A		orphadata	ORPHA:117
HP:0004420	Arterial thrombosis	811	CALR		orphadata	ORPHA:824
HP:0004420	Arterial thrombosis	149233	IL23R		orphadata	ORPHA:117
HP:0004420	Arterial thrombosis	3717	JAK2		orphadata	ORPHA:3318
HP:0004420	Arterial thrombosis	5627	PROS1		orphadata	ORPHA:743
HP:0004420	Arterial thrombosis	7157	TP53		orphadata	ORPHA:3318
HP:0004420	Arterial thrombosis	875	CBS		orphadata	ORPHA:394
HP:0004420	Arterial thrombosis	54790	TET2		orphadata	ORPHA:729
HP:0004420	Arterial thrombosis	3717	JAK2		orphadata	ORPHA:824
HP:0004420	Arterial thrombosis	4210	MEFV		orphadata	ORPHA:117
HP:0004420	Arterial thrombosis	54790	TET2		orphadata	ORPHA:824
HP:0004420	Arterial thrombosis	4625	MYH7		orphadata	ORPHA:1880
HP:0004420	Arterial thrombosis	5728	PTEN		orphadata	ORPHA:744
HP:0004420	Arterial thrombosis	3717	JAK2		orphadata	ORPHA:71493
HP:0004420	Arterial thrombosis	5627	PROS1	-	mim2gene	OMIM:612336
HP:0004420	Arterial thrombosis	51752	ERAP1		orphadata	ORPHA:117
HP:0004420	Arterial thrombosis	10019	SH2B3		orphadata	ORPHA:3318
HP:0004420	Arterial thrombosis	4352	MPL		orphadata	ORPHA:824
HP:0004420	Arterial thrombosis	355	FAS		orphadata	ORPHA:117
HP:0004420	Arterial thrombosis	8302	KLRC4		orphadata	ORPHA:117
HP:0004420	Arterial thrombosis	54790	TET2		orphadata	ORPHA:3318
HP:0004420	Arterial thrombosis	3586	IL10		orphadata	ORPHA:117
HP:0004420	Arterial thrombosis	5627	PROS1	-	mim2gene	OMIM:614514
HP:0004420	Arterial thrombosis	3717	JAK2		orphadata	ORPHA:729
HP:0004420	Arterial thrombosis	337867	UBAC2		orphadata	ORPHA:117
HP:0004420	Arterial thrombosis	3106	HLA-B		orphadata	ORPHA:117
HP:0004421	Elevated systolic blood pressure	554	AVPR2	-	mim2gene	OMIM:300539
HP:0004421	Elevated systolic blood pressure	2321	FLT1		orphadata	ORPHA:275555
HP:0004421	Elevated systolic blood pressure	219736	STOX1		orphadata	ORPHA:275555
HP:0004421	Elevated systolic blood pressure	4843	NOS2	susceptibility	mim2gene	OMIM:145500
HP:0004421	Elevated systolic blood pressure	185	AGTR1	susceptibility	mim2gene	OMIM:145500
HP:0004421	Elevated systolic blood pressure	183	AGT	susceptibility	mim2gene	OMIM:145500
HP:0004421	Elevated systolic blood pressure	2784	GNB3	susceptibility	mim2gene	OMIM:145500
HP:0004421	Elevated systolic blood pressure	118	ADD1	susceptibility	mim2gene	OMIM:145500
HP:0004421	Elevated systolic blood pressure	4846	NOS3	susceptibility	mim2gene	OMIM:145500
HP:0004421	Elevated systolic blood pressure	1889	ECE1	susceptibility	mim2gene	OMIM:145500
HP:0004421	Elevated systolic blood pressure	10699	CORIN		orphadata	ORPHA:275555
HP:0004421	Elevated systolic blood pressure	5740	PTGIS	-	mim2gene	OMIM:145500
HP:0004421	Elevated systolic blood pressure	1577	CYP3A5	susceptibility	mim2gene	OMIM:145500
HP:0004422	Biparietal narrowing	91147	TMEM67		orphadata	ORPHA:1454
HP:0004422	Biparietal narrowing	29123	ANKRD11		orphadata	ORPHA:261250
HP:0004422	Biparietal narrowing	65250	CPLANE1		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	3845	KRAS		orphadata	ORPHA:2612
HP:0004422	Biparietal narrowing	9786	KIAA0586		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	5147	PDE6D		orphadata	ORPHA:2754
HP:0004422	Biparietal narrowing	23322	RPGRIP1L		orphadata	ORPHA:220497
HP:0004422	Biparietal narrowing	153241	CEP120		orphadata	ORPHA:220493
HP:0004422	Biparietal narrowing	4212	MEIS2		orphadata	ORPHA:261190
HP:0004422	Biparietal narrowing	3192	HNRNPU		orphadata	ORPHA:238769
HP:0004422	Biparietal narrowing	54806	AHI1		orphadata	ORPHA:220493
HP:0004422	Biparietal narrowing	55975	KLHL7		orphadata	ORPHA:97297
HP:0004422	Biparietal narrowing	374654	KIF7		orphadata	ORPHA:2754
HP:0004422	Biparietal narrowing	57192	MCOLN1		orphadata	ORPHA:578
HP:0004422	Biparietal narrowing	65062	TMEM237		orphadata	ORPHA:220497
HP:0004422	Biparietal narrowing	6567	SLC16A2		orphadata	ORPHA:59
HP:0004422	Biparietal narrowing	8481	OFD1		orphadata	ORPHA:2754
HP:0004422	Biparietal narrowing	56623	INPP5E		orphadata	ORPHA:220493
HP:0004422	Biparietal narrowing	3981	LIG4		orphadata	ORPHA:99812
HP:0004422	Biparietal narrowing	79867	TCTN2		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	403	ARL3		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	91147	TMEM67		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	5728	PTEN	-	mim2gene	OMIM:605309
HP:0004422	Biparietal narrowing	27077	B9D1		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	79600	TCTN1		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	2626	GATA4		orphadata	ORPHA:251071
HP:0004422	Biparietal narrowing	153241	CEP120		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	54806	AHI1		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	5604	MAP2K1		orphadata	ORPHA:1340
HP:0004422	Biparietal narrowing	80184	CEP290		orphadata	ORPHA:2318
HP:0004422	Biparietal narrowing	56623	INPP5E		orphadata	ORPHA:1454
HP:0004422	Biparietal narrowing	219844	HYLS1		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	7518	XRCC4		orphadata	ORPHA:99812
HP:0004422	Biparietal narrowing	79848	CSPP1		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	9731	CEP104		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	51259	TMEM216		orphadata	ORPHA:2318
HP:0004422	Biparietal narrowing	85378	TUBGCP6		orphadata	ORPHA:2518
HP:0004422	Biparietal narrowing	80210	ARMC9		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	51259	TMEM216		orphadata	ORPHA:2754
HP:0004422	Biparietal narrowing	3265	HRAS		orphadata	ORPHA:2612
HP:0004422	Biparietal narrowing	23090	ZNF423		orphadata	ORPHA:2318
HP:0004422	Biparietal narrowing	26123	TCTN3		orphadata	ORPHA:2754
HP:0004422	Biparietal narrowing	65062	TMEM237		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	23322	RPGRIP1L		orphadata	ORPHA:1454
HP:0004422	Biparietal narrowing	673	BRAF		orphadata	ORPHA:1340
HP:0004422	Biparietal narrowing	10464	PIBF1		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	9851	KIAA0753		orphadata	ORPHA:2754
HP:0004422	Biparietal narrowing	547	KIF1A		orphadata	ORPHA:2836
HP:0004422	Biparietal narrowing	10733	PLK4		orphadata	ORPHA:2518
HP:0004422	Biparietal narrowing	10225	CD96		orphadata	ORPHA:1308
HP:0004422	Biparietal narrowing	57545	CC2D2A		orphadata	ORPHA:2318
HP:0004422	Biparietal narrowing	54903	MKS1		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	27229	TUBGCP4		orphadata	ORPHA:2518
HP:0004422	Biparietal narrowing	4867	NPHP1		orphadata	ORPHA:220497
HP:0004422	Biparietal narrowing	317662	FAM149B1		orphadata	ORPHA:2754
HP:0004422	Biparietal narrowing	95681	CEP41		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	65062	TMEM237		orphadata	ORPHA:2318
HP:0004422	Biparietal narrowing	9326	ZNHIT3		orphadata	ORPHA:2836
HP:0004422	Biparietal narrowing	5605	MAP2K2		orphadata	ORPHA:1340
HP:0004422	Biparietal narrowing	56623	INPP5E		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	23247	KIAA0556		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	8450	CUL4B		orphadata	ORPHA:85293
HP:0004422	Biparietal narrowing	3845	KRAS		orphadata	ORPHA:1340
HP:0004422	Biparietal narrowing	65250	CPLANE1		orphadata	ORPHA:2754
HP:0004422	Biparietal narrowing	95681	CEP41		orphadata	ORPHA:220493
HP:0004422	Biparietal narrowing	171023	ASXL1		orphadata	ORPHA:97297
HP:0004422	Biparietal narrowing	4893	NRAS		orphadata	ORPHA:2612
HP:0004422	Biparietal narrowing	200894	ARL13B		orphadata	ORPHA:475
HP:0004422	Biparietal narrowing	6309	SC5D		orphadata	ORPHA:46059
HP:0004422	Biparietal narrowing	54903	MKS1		orphadata	ORPHA:220493
HP:0004422	Biparietal narrowing	1717	DHCR7		orphadata	ORPHA:818
HP:0004422	Biparietal narrowing	51524	TMEM138		orphadata	ORPHA:2318
HP:0004422	Biparietal narrowing	57545	CC2D2A		orphadata	ORPHA:1454
HP:0004422	Biparietal narrowing	79583	TMEM231		orphadata	ORPHA:2318
HP:0004423	Cranium bifidum occultum	257	ALX3		orphadata	ORPHA:391474
HP:0004423	Cranium bifidum occultum	8092	ALX1		orphadata	ORPHA:306542
HP:0004423	Cranium bifidum occultum	257	ALX3	-	mim2gene	OMIM:136760
HP:0004425	Flat forehead	55699	IARS2	question	mim2gene	OMIM:616007
HP:0004425	Flat forehead	7291	TWIST1	-	mim2gene	OMIM:101400
HP:0004425	Flat forehead	3756	KCNH1	-	mim2gene	OMIM:611816
HP:0004425	Flat forehead	3590	IL11RA	-	mim2gene	OMIM:614188
HP:0004425	Flat forehead	818	CAMK2G	-	mim2gene	OMIM:618522
HP:0004425	Flat forehead	4041	LRP5	-	mim2gene	OMIM:144750
HP:0004425	Flat forehead	113189	CHST14	-	mim2gene	OMIM:601776
HP:0004425	Flat forehead	9401	RECQL4	-	mim2gene	OMIM:218600
HP:0004425	Flat forehead	11285	B4GALT7	-	mim2gene	OMIM:130070
HP:0004425	Flat forehead	91949	COG7	-	mim2gene	OMIM:608779
HP:0004425	Flat forehead	2263	FGFR2	-	mim2gene	OMIM:101400
HP:0004426	Abnormality of the cheek	79848	CSPP1		orphadata	ORPHA:564
HP:0004426	Abnormality of the cheek	3954	LETM1	-	mim2gene	OMIM:194190
HP:0004426	Abnormality of the cheek	57492	ARID1B	-	mim2gene	OMIM:135900
HP:0004426	Abnormality of the cheek	51124	IER3IP1	-	mim2gene	OMIM:614231
HP:0004426	Abnormality of the cheek	6651	SON		orphadata	ORPHA:500150
HP:0004426	Abnormality of the cheek	2317	FLNB	-	mim2gene	OMIM:272460
HP:0004426	Abnormality of the cheek	80232	WDR26	-	mim2gene	OMIM:617616
HP:0004426	Abnormality of the cheek	2778	GNAS	-	mim2gene	OMIM:612463
HP:0004426	Abnormality of the cheek	23545	ATP6V0A2		orphadata	ORPHA:2834
HP:0004426	Abnormality of the cheek	8085	KMT2D		orphadata	ORPHA:2322
HP:0004426	Abnormality of the cheek	1482	NKX2-5	-	mim2gene	OMIM:187500
HP:0004426	Abnormality of the cheek	9897	WASHC5		orphadata	ORPHA:7
HP:0004426	Abnormality of the cheek	51339	DACT1		orphadata	ORPHA:857
HP:0004426	Abnormality of the cheek	6299	SALL1		orphadata	ORPHA:857
HP:0004426	Abnormality of the cheek	4035	LRP1	question	mim2gene	OMIM:604093
HP:0004426	Abnormality of the cheek	51057	WDPCP		orphadata	ORPHA:564
HP:0004426	Abnormality of the cheek	89910	UBE3B	-	mim2gene	OMIM:244450
HP:0004426	Abnormality of the cheek	5906	RAP1A		orphadata	ORPHA:2322
HP:0004426	Abnormality of the cheek	10265	IRX5	-	mim2gene	OMIM:611174
HP:0004426	Abnormality of the cheek	5116	PCNT		orphadata	ORPHA:2637
HP:0004426	Abnormality of the cheek	57498	KIDINS220	-	mim2gene	OMIM:617296
HP:0004426	Abnormality of the cheek	2263	FGFR2	-	mim2gene	OMIM:123790
HP:0004426	Abnormality of the cheek	6492	SIM1		orphadata	ORPHA:171829
HP:0004426	Abnormality of the cheek	9244	CRLF1		orphadata	ORPHA:1545
HP:0004426	Abnormality of the cheek	286	ANK1		orphadata	ORPHA:251066
HP:0004426	Abnormality of the cheek	10907	TXNL4A	-	mim2gene	OMIM:608572
HP:0004426	Abnormality of the cheek	26053	AUTS2		orphadata	ORPHA:352490
HP:0004426	Abnormality of the cheek	23414	ZFPM2	-	mim2gene	OMIM:187500
HP:0004426	Abnormality of the cheek	9895	TECPR2		orphadata	ORPHA:320385
HP:0004426	Abnormality of the cheek	374654	KIF7	-	mim2gene	OMIM:200990
HP:0004426	Abnormality of the cheek	51520	LARS1	question	mim2gene	OMIM:615438
HP:0004426	Abnormality of the cheek	71	ACTG1		orphadata	ORPHA:2995
HP:0004426	Abnormality of the cheek	285590	SH3PXD2B	-	mim2gene	OMIM:249420
HP:0004426	Abnormality of the cheek	9343	EFTUD2		orphadata	ORPHA:79113
HP:0004426	Abnormality of the cheek	51715	RAB23	-	mim2gene	OMIM:201000
HP:0004426	Abnormality of the cheek	23384	SPECC1L		orphadata	ORPHA:1519
HP:0004426	Abnormality of the cheek	9244	CRLF1	-	mim2gene	OMIM:272430
HP:0004426	Abnormality of the cheek	171023	ASXL1		orphadata	ORPHA:97297
HP:0004426	Abnormality of the cheek	23135	KDM6B	-	mim2gene	OMIM:618505
HP:0004426	Abnormality of the cheek	54903	MKS1		orphadata	ORPHA:564
HP:0004426	Abnormality of the cheek	2200	FBN1	-	mim2gene	OMIM:614185
HP:0004426	Abnormality of the cheek	80184	CEP290		orphadata	ORPHA:564
HP:0004426	Abnormality of the cheek	147912	SIX5	-	mim2gene	OMIM:610896
HP:0004426	Abnormality of the cheek	2138	EYA1	-	mim2gene	OMIM:113650
HP:0004426	Abnormality of the cheek	53834	FGFRL1	-	mim2gene	OMIM:194190
HP:0004426	Abnormality of the cheek	6899	TBX1	-	mim2gene	OMIM:187500
HP:0004426	Abnormality of the cheek	29123	ANKRD11		orphadata	ORPHA:261250
HP:0004426	Abnormality of the cheek	3425	IDUA		orphadata	ORPHA:93473
HP:0004426	Abnormality of the cheek	10735	STAG2	-	mim2gene	OMIM:301022
HP:0004426	Abnormality of the cheek	6495	SIX1		orphadata	ORPHA:52429
HP:0004426	Abnormality of the cheek	145173	B3GLCT		orphadata	ORPHA:709
HP:0004426	Abnormality of the cheek	51085	MLXIPL	-	mim2gene	OMIM:194050
HP:0004426	Abnormality of the cheek	55165	CEP55		orphadata	ORPHA:564
HP:0004426	Abnormality of the cheek	7403	KDM6A	-	mim2gene	OMIM:147920
HP:0004426	Abnormality of the cheek	5908	RAP1B		orphadata	ORPHA:2322
HP:0004426	Abnormality of the cheek	22827	PUF60		orphadata	ORPHA:508488
HP:0004426	Abnormality of the cheek	259232	NALCN	-	mim2gene	OMIM:616266
HP:0004426	Abnormality of the cheek	147912	SIX5		orphadata	ORPHA:107
HP:0004426	Abnormality of the cheek	23529	CLCF1		orphadata	ORPHA:1545
HP:0004426	Abnormality of the cheek	9451	EIF2AK3	-	mim2gene	OMIM:226980
HP:0004426	Abnormality of the cheek	51098	IFT52	-	mim2gene	OMIM:617102
HP:0004426	Abnormality of the cheek	1487	CTBP1	-	mim2gene	OMIM:194190
HP:0004426	Abnormality of the cheek	6885	MAP3K7	-	mim2gene	OMIM:617137
HP:0004426	Abnormality of the cheek	2132	EXT2	-	mim2gene	OMIM:616682
HP:0004426	Abnormality of the cheek	2137	EXTL3	-	mim2gene	OMIM:617425
HP:0004426	Abnormality of the cheek	10370	CITED2		orphadata	ORPHA:3303
HP:0004426	Abnormality of the cheek	85358	SHANK3	-	mim2gene	OMIM:606232
HP:0004426	Abnormality of the cheek	8085	KMT2D	-	mim2gene	OMIM:147920
HP:0004426	Abnormality of the cheek	3265	HRAS	-	mim2gene	OMIM:137550
HP:0004426	Abnormality of the cheek	2626	GATA4		orphadata	ORPHA:3303
HP:0004426	Abnormality of the cheek	63916	ELMO2		orphadata	ORPHA:3019
HP:0004426	Abnormality of the cheek	6495	SIX1	-	mim2gene	OMIM:113650
HP:0004426	Abnormality of the cheek	23414	ZFPM2		orphadata	ORPHA:3303
HP:0004426	Abnormality of the cheek	84314	TMEM107		orphadata	ORPHA:564
HP:0004426	Abnormality of the cheek	4041	LRP5		orphadata	ORPHA:2788
HP:0004426	Abnormality of the cheek	27445	PCLO	question	mim2gene	OMIM:608027
HP:0004426	Abnormality of the cheek	3832	KIF11		orphadata	ORPHA:2526
HP:0004426	Abnormality of the cheek	6885	MAP3K7	-	mim2gene	OMIM:157800
HP:0004426	Abnormality of the cheek	6905	TBCE		orphadata	ORPHA:93324
HP:0004426	Abnormality of the cheek	55704	CCDC88A	question	mim2gene	OMIM:617507
HP:0004426	Abnormality of the cheek	10262	SF3B4	-	mim2gene	OMIM:154400
HP:0004426	Abnormality of the cheek	84570	COL25A1		orphadata	ORPHA:233
HP:0004426	Abnormality of the cheek	55904	KMT2E	-	mim2gene	OMIM:618512
HP:0004426	Abnormality of the cheek	8260	NAA10		orphadata	ORPHA:568
HP:0004426	Abnormality of the cheek	2006	ELN		orphadata	ORPHA:90348
HP:0004426	Abnormality of the cheek	5723	PSPH		orphadata	ORPHA:79350
HP:0004426	Abnormality of the cheek	4286	MITF	-	mim2gene	OMIM:617306
HP:0004426	Abnormality of the cheek	6925	TCF4	-	mim2gene	OMIM:610954
HP:0004426	Abnormality of the cheek	3339	HSPG2	-	mim2gene	OMIM:255800
HP:0004426	Abnormality of the cheek	2006	ELN	-	mim2gene	OMIM:194050
HP:0004426	Abnormality of the cheek	145173	B3GLCT	-	mim2gene	OMIM:261540
HP:0004426	Abnormality of the cheek	3425	IDUA	-	mim2gene	OMIM:607014
HP:0004426	Abnormality of the cheek	4853	NOTCH2	-	mim2gene	OMIM:102500
HP:0004426	Abnormality of the cheek	80776	B9D2		orphadata	ORPHA:564
HP:0004426	Abnormality of the cheek	8092	ALX1		orphadata	ORPHA:306542
HP:0004426	Abnormality of the cheek	9049	AIP		orphadata	ORPHA:963
HP:0004426	Abnormality of the cheek	2778	GNAS	-	mim2gene	OMIM:612462
HP:0004426	Abnormality of the cheek	1968	EIF2S3		orphadata	ORPHA:85282
HP:0004426	Abnormality of the cheek	55315	SLC29A3		orphadata	ORPHA:168569
HP:0004426	Abnormality of the cheek	5290	PIK3CA		orphadata	ORPHA:60040
HP:0004426	Abnormality of the cheek	85358	SHANK3		orphadata	ORPHA:48652
HP:0004426	Abnormality of the cheek	23522	KAT6B		orphadata	ORPHA:3047
HP:0004426	Abnormality of the cheek	157680	VPS13B		orphadata	ORPHA:193
HP:0004426	Abnormality of the cheek	2657	GDF1		orphadata	ORPHA:3303
HP:0004426	Abnormality of the cheek	1906	EDN1	-	mim2gene	OMIM:615706
HP:0004426	Abnormality of the cheek	2719	GPC3	-	mim2gene	OMIM:312870
HP:0004426	Abnormality of the cheek	7020	TFAP2A		orphadata	ORPHA:1297
HP:0004426	Abnormality of the cheek	10382	TUBB4A		orphadata	ORPHA:98805
HP:0004426	Abnormality of the cheek	55764	IFT122	-	mim2gene	OMIM:218330
HP:0004426	Abnormality of the cheek	650	BMP2		orphadata	ORPHA:261295
HP:0004426	Abnormality of the cheek	7994	KAT6A		orphadata	ORPHA:457193
HP:0004426	Abnormality of the cheek	538	ATP7A		orphadata	ORPHA:565
HP:0004426	Abnormality of the cheek	7468	NSD2	-	mim2gene	OMIM:194190
HP:0004426	Abnormality of the cheek	57539	WDR35	-	mim2gene	OMIM:613610
HP:0004426	Abnormality of the cheek	6664	SOX11	-	mim2gene	OMIM:615866
HP:0004426	Abnormality of the cheek	9343	EFTUD2	-	mim2gene	OMIM:610536
HP:0004426	Abnormality of the cheek	1123	CHN1		orphadata	ORPHA:233
HP:0004426	Abnormality of the cheek	182	JAG1		orphadata	ORPHA:3303
HP:0004426	Abnormality of the cheek	4337	MOCS1	-	mim2gene	OMIM:252150
HP:0004426	Abnormality of the cheek	6495	SIX1	-	mim2gene	OMIM:605192
HP:0004426	Abnormality of the cheek	2138	EYA1	-	mim2gene	OMIM:602588
HP:0004426	Abnormality of the cheek	2626	GATA4		orphadata	ORPHA:251071
HP:0004426	Abnormality of the cheek	84919	PPP1R15B	-	mim2gene	OMIM:616817
HP:0004426	Abnormality of the cheek	55768	NGLY1	-	mim2gene	OMIM:615273
HP:0004426	Abnormality of the cheek	6495	SIX1	-	mim2gene	OMIM:608389
HP:0004426	Abnormality of the cheek	2138	EYA1		orphadata	ORPHA:2792
HP:0004426	Abnormality of the cheek	6949	TCOF1	-	mim2gene	OMIM:154500
HP:0004426	Abnormality of the cheek	10815	CPLX1	-	mim2gene	OMIM:194190
HP:0004426	Abnormality of the cheek	57728	WDR19	question	mim2gene	OMIM:614376
HP:0004426	Abnormality of the cheek	100144748	KLLN	-	mim2gene	OMIM:615107
HP:0004426	Abnormality of the cheek	2138	EYA1		orphadata	ORPHA:107
HP:0004426	Abnormality of the cheek	673	BRAF		orphadata	ORPHA:1340
HP:0004426	Abnormality of the cheek	137814	NKX2-6		orphadata	ORPHA:3303
HP:0004426	Abnormality of the cheek	2778	GNAS	-	mim2gene	OMIM:103580
HP:0004426	Abnormality of the cheek	79867	TCTN2		orphadata	ORPHA:564
HP:0004426	Abnormality of the cheek	91147	TMEM67		orphadata	ORPHA:564
HP:0004426	Abnormality of the cheek	4853	NOTCH2		orphadata	ORPHA:955
HP:0004426	Abnormality of the cheek	9533	POLR1C		orphadata	ORPHA:861
HP:0004426	Abnormality of the cheek	2778	GNAS		orphadata	ORPHA:79444
HP:0004426	Abnormality of the cheek	54916	TMEM260	-	mim2gene	OMIM:617478
HP:0004426	Abnormality of the cheek	6901	TAZ	-	mim2gene	OMIM:302060
HP:0004426	Abnormality of the cheek	182	JAG1	-	mim2gene	OMIM:187500
HP:0004426	Abnormality of the cheek	6495	SIX1		orphadata	ORPHA:107
HP:0004426	Abnormality of the cheek	64132	XYLT2		orphadata	ORPHA:85194
HP:0004426	Abnormality of the cheek	5605	MAP2K2		orphadata	ORPHA:1340
HP:0004426	Abnormality of the cheek	7467	WHCR	-	mim2gene	OMIM:194190
HP:0004426	Abnormality of the cheek	27077	B9D1		orphadata	ORPHA:564
HP:0004426	Abnormality of the cheek	57096	RPGRIP1		orphadata	ORPHA:564
HP:0004426	Abnormality of the cheek	7403	KDM6A		orphadata	ORPHA:2322
HP:0004426	Abnormality of the cheek	6925	TCF4		orphadata	ORPHA:2896
HP:0004426	Abnormality of the cheek	3845	KRAS		orphadata	ORPHA:1340
HP:0004426	Abnormality of the cheek	1836	SLC26A2		orphadata	ORPHA:628
HP:0004426	Abnormality of the cheek	3425	IDUA	-	mim2gene	OMIM:607016
HP:0004426	Abnormality of the cheek	55975	KLHL7	-	mim2gene	OMIM:617055
HP:0004426	Abnormality of the cheek	6309	SC5D		orphadata	ORPHA:46059
HP:0004426	Abnormality of the cheek	2773	GNAI3		orphadata	ORPHA:137888
HP:0004426	Abnormality of the cheek	57545	CC2D2A		orphadata	ORPHA:564
HP:0004426	Abnormality of the cheek	10516	FBLN5		orphadata	ORPHA:90349
HP:0004426	Abnormality of the cheek	7020	TFAP2A	-	mim2gene	OMIM:113620
HP:0004426	Abnormality of the cheek	23322	RPGRIP1L		orphadata	ORPHA:564
HP:0004426	Abnormality of the cheek	1906	EDN1		orphadata	ORPHA:137888
HP:0004426	Abnormality of the cheek	2239	GPC4	-	mim2gene	OMIM:312870
HP:0004426	Abnormality of the cheek	1806	DPYD		orphadata	ORPHA:293948
HP:0004426	Abnormality of the cheek	51322	WAC	-	mim2gene	OMIM:616708
HP:0004426	Abnormality of the cheek	79583	TMEM231		orphadata	ORPHA:564
HP:0004426	Abnormality of the cheek	3008	H1-4	-	mim2gene	OMIM:617537
HP:0004426	Abnormality of the cheek	3339	HSPG2		orphadata	ORPHA:800
HP:0004426	Abnormality of the cheek	23556	PIGN		orphadata	ORPHA:280633
HP:0004426	Abnormality of the cheek	91754	NEK9	question	mim2gene	OMIM:614262
HP:0004426	Abnormality of the cheek	1909	EDNRA	-	mim2gene	OMIM:616367
HP:0004426	Abnormality of the cheek	5075	PAX1		orphadata	ORPHA:2792
HP:0004426	Abnormality of the cheek	9037	SEMA5A		orphadata	ORPHA:281
HP:0004426	Abnormality of the cheek	8675	STX16		orphadata	ORPHA:94089
HP:0004426	Abnormality of the cheek	3192	HNRNPU		orphadata	ORPHA:238769
HP:0004426	Abnormality of the cheek	2627	GATA6	-	mim2gene	OMIM:187500
HP:0004426	Abnormality of the cheek	55975	KLHL7		orphadata	ORPHA:97297
HP:0004426	Abnormality of the cheek	2627	GATA6		orphadata	ORPHA:3303
HP:0004426	Abnormality of the cheek	6452	SH3BP2		orphadata	ORPHA:184
HP:0004426	Abnormality of the cheek	340665	CYP26C1		orphadata	ORPHA:398189
HP:0004426	Abnormality of the cheek	1482	NKX2-5		orphadata	ORPHA:3303
HP:0004426	Abnormality of the cheek	6925	TCF4		orphadata	ORPHA:2896
HP:0004426	Abnormality of the cheek	23384	SPECC1L	-	mim2gene	OMIM:145420
HP:0004426	Abnormality of the cheek	9326	ZNHIT3	-	mim2gene	OMIM:260565
HP:0004426	Abnormality of the cheek	140628	GATA5		orphadata	ORPHA:3303
HP:0004426	Abnormality of the cheek	4952	OCRL		orphadata	ORPHA:534
HP:0004426	Abnormality of the cheek	3759	KCNJ2	-	mim2gene	OMIM:170390
HP:0004426	Abnormality of the cheek	79718	TBL1XR1	-	mim2gene	OMIM:602342
HP:0004426	Abnormality of the cheek	2773	GNAI3	-	mim2gene	OMIM:602483
HP:0004426	Abnormality of the cheek	2138	EYA1	question	mim2gene	OMIM:166780
HP:0004426	Abnormality of the cheek	30008	EFEMP2		orphadata	ORPHA:90349
HP:0004426	Abnormality of the cheek	1020	CDK5	question	mim2gene	OMIM:616342
HP:0004426	Abnormality of the cheek	83550	GPR101		orphadata	ORPHA:963
HP:0004426	Abnormality of the cheek	5332	PLCB4		orphadata	ORPHA:137888
HP:0004426	Abnormality of the cheek	7319	UBE2A		orphadata	ORPHA:163956
HP:0004426	Abnormality of the cheek	5604	MAP2K1		orphadata	ORPHA:1340
HP:0004426	Abnormality of the cheek	89910	UBE3B		orphadata	ORPHA:2707
HP:0004426	Abnormality of the cheek	2778	GNAS		orphadata	ORPHA:94089
HP:0004426	Abnormality of the cheek	2778	GNAS		orphadata	ORPHA:79443
HP:0004426	Abnormality of the cheek	94005	PIGS	-	mim2gene	OMIM:618143
HP:0004426	Abnormality of the cheek	5832	ALDH18A1		orphadata	ORPHA:90348
HP:0004426	Abnormality of the cheek	4661	MYT1		orphadata	ORPHA:374
HP:0004426	Abnormality of the cheek	28952	CCDC22		orphadata	ORPHA:7
HP:0004426	Abnormality of the cheek	9935	MAFB		orphadata	ORPHA:233
HP:0004426	Abnormality of the cheek	10516	FBLN5		orphadata	ORPHA:90348
HP:0004426	Abnormality of the cheek	2260	FGFR1	-	mim2gene	OMIM:190440
HP:0004426	Abnormality of the cheek	57728	WDR19	question	mim2gene	OMIM:614378
HP:0004426	Abnormality of the cheek	257	ALX3		orphadata	ORPHA:391474
HP:0004426	Abnormality of the cheek	2626	GATA4	-	mim2gene	OMIM:187500
HP:0004426	Abnormality of the cheek	51082	POLR1D		orphadata	ORPHA:861
HP:0004426	Abnormality of the cheek	3265	HRAS	-	mim2gene	OMIM:218040
HP:0004426	Abnormality of the cheek	547	KIF1A		orphadata	ORPHA:2836
HP:0004426	Abnormality of the cheek	4893	NRAS	-	mim2gene	OMIM:137550
HP:0004426	Abnormality of the cheek	2248	FGF3		orphadata	ORPHA:2791
HP:0004426	Abnormality of the cheek	9723	SEMA3E		orphadata	ORPHA:138
HP:0004426	Abnormality of the cheek	2702	GJA5		orphadata	ORPHA:3303
HP:0004426	Abnormality of the cheek	6299	SALL1	-	mim2gene	OMIM:107480
HP:0004426	Abnormality of the cheek	9326	ZNHIT3		orphadata	ORPHA:2836
HP:0004426	Abnormality of the cheek	55636	CHD7		orphadata	ORPHA:138
HP:0004426	Abnormality of the cheek	1501	CTNND2		orphadata	ORPHA:281
HP:0004426	Abnormality of the cheek	257	ALX3	-	mim2gene	OMIM:136760
HP:0004426	Abnormality of the cheek	60	ACTB		orphadata	ORPHA:2995
HP:0004426	Abnormality of the cheek	2263	FGFR2		orphadata	ORPHA:1555
HP:0004426	Abnormality of the cheek	51259	TMEM216		orphadata	ORPHA:564
HP:0004426	Abnormality of the cheek	6899	TBX1		orphadata	ORPHA:3303
HP:0004426	Abnormality of the cheek	6949	TCOF1		orphadata	ORPHA:861
HP:0004426	Abnormality of the cheek	5075	PAX1	-	mim2gene	OMIM:615560
HP:0004426	Abnormality of the cheek	4000	LMNA	-	mim2gene	OMIM:248370
HP:0004426	Abnormality of the cheek	3265	HRAS		orphadata	ORPHA:3071
HP:0004426	Abnormality of the cheek	10382	TUBB4A	-	mim2gene	OMIM:128101
HP:0004426	Abnormality of the cheek	2138	EYA1		orphadata	ORPHA:52429
HP:0004426	Abnormality of the cheek	145258	GSC	-	mim2gene	OMIM:602471
HP:0004426	Abnormality of the cheek	178	AGL		orphadata	ORPHA:366
HP:0004426	Abnormality of the cheek	2316	FLNA		orphadata	ORPHA:2484
HP:0004426	Abnormality of the cheek	54880	BCOR		orphadata	ORPHA:568
HP:0004426	Abnormality of the cheek	23483	TGDS		orphadata	ORPHA:1388
HP:0004426	Abnormality of the cheek	4338	MOCS2	-	mim2gene	OMIM:252160
HP:0004428	Elfin facies	7461	CLIP2		orphadata	ORPHA:904
HP:0004428	Elfin facies	3643	INSR	-	mim2gene	OMIM:246200
HP:0004428	Elfin facies	5982	RFC2		orphadata	ORPHA:904
HP:0004428	Elfin facies	2969	GTF2I		orphadata	ORPHA:904
HP:0004428	Elfin facies	3984	LIMK1		orphadata	ORPHA:904
HP:0004428	Elfin facies	9569	GTF2IRD1		orphadata	ORPHA:904
HP:0004428	Elfin facies	1591	CYP24A1	-	mim2gene	OMIM:143880
HP:0004428	Elfin facies	9031	BAZ1B		orphadata	ORPHA:904
HP:0004428	Elfin facies	341208	HEPHL1	question	mim2gene	OMIM:261990
HP:0004428	Elfin facies	2006	ELN		orphadata	ORPHA:904
HP:0004428	Elfin facies	26608	TBL2		orphadata	ORPHA:904
HP:0004429	Recurrent viral infections	919	CD247		orphadata	ORPHA:169160
HP:0004429	Recurrent viral infections	3559	IL2RA	-	mim2gene	OMIM:606367
HP:0004429	Recurrent viral infections	5897	RAG2	-	mim2gene	OMIM:603554
HP:0004429	Recurrent viral infections	3431	SP110		orphadata	ORPHA:79124
HP:0004429	Recurrent viral infections	4153	MBL2	susceptibility	mim2gene	OMIM:614372
HP:0004429	Recurrent viral infections	6789	STK4	-	mim2gene	OMIM:614868
HP:0004429	Recurrent viral infections	695	BTK	-	mim2gene	OMIM:307200
HP:0004429	Recurrent viral infections	695	BTK	-	mim2gene	OMIM:300755
HP:0004429	Recurrent viral infections	1503	CTPS1	-	mim2gene	OMIM:615897
HP:0004429	Recurrent viral infections	5238	PGM3		orphadata	ORPHA:443811
HP:0004429	Recurrent viral infections	5896	RAG1		orphadata	ORPHA:331206
HP:0004429	Recurrent viral infections	10312	TCIRG1		orphadata	ORPHA:486
HP:0004429	Recurrent viral infections	81704	DOCK8		orphadata	ORPHA:217390
HP:0004429	Recurrent viral infections	4261	CIITA	-	mim2gene	OMIM:209920
HP:0004429	Recurrent viral infections	165918	RNF168		orphadata	ORPHA:420741
HP:0004429	Recurrent viral infections	6729	SRP54		orphadata	ORPHA:486
HP:0004429	Recurrent viral infections	79840	NHEJ1		orphadata	ORPHA:169079
HP:0004429	Recurrent viral infections	4173	MCM4	-	mim2gene	OMIM:609981
HP:0004429	Recurrent viral infections	5993	RFX5		orphadata	ORPHA:572
HP:0004429	Recurrent viral infections	4261	CIITA		orphadata	ORPHA:572
HP:0004429	Recurrent viral infections	8625	RFXANK	-	mim2gene	OMIM:209920
HP:0004429	Recurrent viral infections	2624	GATA2	-	mim2gene	OMIM:614172
HP:0004429	Recurrent viral infections	915	CD3D		orphadata	ORPHA:169160
HP:0004429	Recurrent viral infections	1536	CYBB	-	mim2gene	OMIM:300645
HP:0004429	Recurrent viral infections	84061	MAGT1	-	mim2gene	OMIM:300853
HP:0004429	Recurrent viral infections	6023	RMRP	-	mim2gene	OMIM:250250
HP:0004429	Recurrent viral infections	10892	MALT1	-	mim2gene	OMIM:615468
HP:0004429	Recurrent viral infections	5993	RFX5	-	mim2gene	OMIM:209920
HP:0004429	Recurrent viral infections	5897	RAG2		orphadata	ORPHA:331206
HP:0004429	Recurrent viral infections	5994	RFXAP	-	mim2gene	OMIM:209920
HP:0004429	Recurrent viral infections	1991	ELANE		orphadata	ORPHA:486
HP:0004429	Recurrent viral infections	3718	JAK3		orphadata	ORPHA:35078
HP:0004429	Recurrent viral infections	3561	IL2RG		orphadata	ORPHA:276
HP:0004429	Recurrent viral infections	81704	DOCK8	-	mim2gene	OMIM:243700
HP:0004429	Recurrent viral infections	2313	FLI1	-	mim2gene	OMIM:617443
HP:0004429	Recurrent viral infections	5896	RAG1	-	mim2gene	OMIM:603554
HP:0004429	Recurrent viral infections	919	CD247	question	mim2gene	OMIM:610163
HP:0004429	Recurrent viral infections	4860	PNP	-	mim2gene	OMIM:613179
HP:0004429	Recurrent viral infections	2672	GFI1		orphadata	ORPHA:486
HP:0004429	Recurrent viral infections	57724	EPG5	-	mim2gene	OMIM:242840
HP:0004429	Recurrent viral infections	9094	UNC119	question	mim2gene	OMIM:615518
HP:0004429	Recurrent viral infections	916	CD3E		orphadata	ORPHA:169160
HP:0004429	Recurrent viral infections	100	ADA	-	mim2gene	OMIM:102700
HP:0004429	Recurrent viral infections	925	CD8A	-	mim2gene	OMIM:608957
HP:0004429	Recurrent viral infections	8625	RFXANK		orphadata	ORPHA:572
HP:0004429	Recurrent viral infections	6772	STAT1	-	mim2gene	OMIM:613796
HP:0004429	Recurrent viral infections	3575	IL7R		orphadata	ORPHA:169154
HP:0004429	Recurrent viral infections	81622	UNC93B1	susceptibility	mim2gene	OMIM:610551
HP:0004429	Recurrent viral infections	7535	ZAP70		orphadata	ORPHA:911
HP:0004429	Recurrent viral infections	7297	TYK2	-	mim2gene	OMIM:611521
HP:0004429	Recurrent viral infections	3507	IGHM	-	mim2gene	OMIM:601495
HP:0004429	Recurrent viral infections	5994	RFXAP		orphadata	ORPHA:572
HP:0004429	Recurrent viral infections	6772	STAT1		orphadata	ORPHA:391487
HP:0004429	Recurrent viral infections	64421	DCLRE1C	-	mim2gene	OMIM:603554
HP:0004429	Recurrent viral infections	4791	NFKB2		orphadata	ORPHA:293978
HP:0004429	Recurrent viral infections	64421	DCLRE1C		orphadata	ORPHA:275
HP:0004430	Severe combined immunodeficiency	5788	PTPRC	-	mim2gene	OMIM:608971
HP:0004430	Severe combined immunodeficiency	64421	DCLRE1C	-	mim2gene	OMIM:602450
HP:0004430	Severe combined immunodeficiency	64919	BCL11B	-	mim2gene	OMIM:617237
HP:0004430	Severe combined immunodeficiency	64421	DCLRE1C		orphadata	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	5896	RAG1		orphadata	ORPHA:231154
HP:0004430	Severe combined immunodeficiency	5897	RAG2		orphadata	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	204	AK2		orphadata	ORPHA:33355
HP:0004430	Severe combined immunodeficiency	5591	PRKDC	-	mim2gene	OMIM:615966
HP:0004430	Severe combined immunodeficiency	3575	IL7R		orphadata	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	5896	RAG1		orphadata	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	57217	TTC7A		orphadata	ORPHA:436252
HP:0004430	Severe combined immunodeficiency	3561	IL2RG		orphadata	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	3981	LIG4		orphadata	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	4522	MTHFD1	-	mim2gene	OMIM:617780
HP:0004430	Severe combined immunodeficiency	3561	IL2RG	-	mim2gene	OMIM:300400
HP:0004430	Severe combined immunodeficiency	5238	PGM3		orphadata	ORPHA:443811
HP:0004430	Severe combined immunodeficiency	5896	RAG1	-	mim2gene	OMIM:601457
HP:0004430	Severe combined immunodeficiency	55636	CHD7		orphadata	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	100	ADA		orphadata	ORPHA:39041
HP:0004430	Severe combined immunodeficiency	3981	LIG4		orphadata	ORPHA:99812
HP:0004430	Severe combined immunodeficiency	3718	JAK3	-	mim2gene	OMIM:600802
HP:0004430	Severe combined immunodeficiency	100	ADA	-	mim2gene	OMIM:102700
HP:0004430	Severe combined immunodeficiency	3575	IL7R	-	mim2gene	OMIM:608971
HP:0004430	Severe combined immunodeficiency	5897	RAG2	-	mim2gene	OMIM:601457
HP:0004430	Severe combined immunodeficiency	7518	XRCC4		orphadata	ORPHA:99812
HP:0004430	Severe combined immunodeficiency	57217	TTC7A	-	mim2gene	OMIM:243150
HP:0004430	Severe combined immunodeficiency	6023	RMRP		orphadata	ORPHA:39041
HP:0004431	Complement deficiency	3075	CFH	-	mim2gene	OMIM:609814
HP:0004431	Complement deficiency	3078	CFHR1	susceptibility	mim2gene	OMIM:235400
HP:0004431	Complement deficiency	714	C1QC	-	mim2gene	OMIM:613652
HP:0004431	Complement deficiency	712	C1QA	-	mim2gene	OMIM:613652
HP:0004431	Complement deficiency	9056	SLC7A7		orphadata	ORPHA:470
HP:0004431	Complement deficiency	6775	STAT4		orphadata	ORPHA:93552
HP:0004431	Complement deficiency	3654	IRAK1		orphadata	ORPHA:93552
HP:0004431	Complement deficiency	1776	DNASE1L3		orphadata	ORPHA:36412
HP:0004431	Complement deficiency	84823	LMNB2	susceptibility	mim2gene	OMIM:608709
HP:0004431	Complement deficiency	3075	CFH	susceptibility	mim2gene	OMIM:235400
HP:0004431	Complement deficiency	727	C5	-	mim2gene	OMIM:609536
HP:0004431	Complement deficiency	730	C7	-	mim2gene	OMIM:610102
HP:0004431	Complement deficiency	721	C4B	-	mim2gene	OMIM:614379
HP:0004431	Complement deficiency	720	C4A	-	mim2gene	OMIM:614380
HP:0004431	Complement deficiency	732	C8B	-	mim2gene	OMIM:613789
HP:0004431	Complement deficiency	84823	LMNB2		orphadata	ORPHA:79087
HP:0004431	Complement deficiency	713	C1QB	-	mim2gene	OMIM:613652
HP:0004431	Complement deficiency	6696	SPP1		orphadata	ORPHA:93552
HP:0004431	Complement deficiency	629	CFB	question	mim2gene	OMIM:615561
HP:0004431	Complement deficiency	735	C9	-	mim2gene	OMIM:613825
HP:0004431	Complement deficiency	55690	PACS1		orphadata	ORPHA:329224
HP:0004431	Complement deficiency	10747	MASP2	-	mim2gene	OMIM:613791
HP:0004431	Complement deficiency	1675	CFD	-	mim2gene	OMIM:613912
HP:0004431	Complement deficiency	731	C8A	-	mim2gene	OMIM:613790
HP:0004431	Complement deficiency	718	C3	-	mim2gene	OMIM:613779
HP:0004431	Complement deficiency	10878	CFHR3	susceptibility	mim2gene	OMIM:235400
HP:0004431	Complement deficiency	712	C1QA		orphadata	ORPHA:93552
HP:0004431	Complement deficiency	729	C6	-	mim2gene	OMIM:612446
HP:0004431	Complement deficiency	3426	CFI	-	mim2gene	OMIM:610984
HP:0004431	Complement deficiency	715	C1R		orphadata	ORPHA:93552
HP:0004432	Agammaglobulinemia	1678	TIMM8A		orphadata	ORPHA:52368
HP:0004432	Agammaglobulinemia	974	CD79B	-	mim2gene	OMIM:612692
HP:0004432	Agammaglobulinemia	3551	IKBKB	-	mim2gene	OMIM:615592
HP:0004432	Agammaglobulinemia	56262	LRRC8A		orphadata	ORPHA:33110
HP:0004432	Agammaglobulinemia	29760	BLNK		orphadata	ORPHA:33110
HP:0004432	Agammaglobulinemia	30011	SH3KBP1	question	mim2gene	OMIM:300310
HP:0004432	Agammaglobulinemia	29760	BLNK	question	mim2gene	OMIM:613502
HP:0004432	Agammaglobulinemia	5993	RFX5	-	mim2gene	OMIM:209920
HP:0004432	Agammaglobulinemia	83879	CDCA7	-	mim2gene	OMIM:616910
HP:0004432	Agammaglobulinemia	5994	RFXAP	-	mim2gene	OMIM:209920
HP:0004432	Agammaglobulinemia	695	BTK	-	mim2gene	OMIM:300755
HP:0004432	Agammaglobulinemia	3561	IL2RG	-	mim2gene	OMIM:300400
HP:0004432	Agammaglobulinemia	3543	IGLL1		orphadata	ORPHA:33110
HP:0004432	Agammaglobulinemia	974	CD79B		orphadata	ORPHA:33110
HP:0004432	Agammaglobulinemia	56262	LRRC8A	question	mim2gene	OMIM:613506
HP:0004432	Agammaglobulinemia	5295	PIK3R1		orphadata	ORPHA:33110
HP:0004432	Agammaglobulinemia	973	CD79A	-	mim2gene	OMIM:613501
HP:0004432	Agammaglobulinemia	4261	CIITA	-	mim2gene	OMIM:209920
HP:0004432	Agammaglobulinemia	3543	IGLL1	-	mim2gene	OMIM:613500
HP:0004432	Agammaglobulinemia	5295	PIK3R1	question	mim2gene	OMIM:615214
HP:0004432	Agammaglobulinemia	6929	TCF3		orphadata	ORPHA:33110
HP:0004432	Agammaglobulinemia	973	CD79A		orphadata	ORPHA:33110
HP:0004432	Agammaglobulinemia	3070	HELLS	-	mim2gene	OMIM:616911
HP:0004432	Agammaglobulinemia	8625	RFXANK	-	mim2gene	OMIM:209920
HP:0004432	Agammaglobulinemia	3507	IGHM	-	mim2gene	OMIM:601495
HP:0004432	Agammaglobulinemia	6929	TCF3	-	mim2gene	OMIM:616941
HP:0004432	Agammaglobulinemia	695	BTK		orphadata	ORPHA:47
HP:0004432	Agammaglobulinemia	3507	IGHM		orphadata	ORPHA:33110
HP:0004433	Secretory IgA deficiency	6651	SON		orphadata	ORPHA:500150
HP:0004434	C8 deficiency	732	C8B	-	mim2gene	OMIM:613789
HP:0004434	C8 deficiency	731	C8A	-	mim2gene	OMIM:613790
HP:0004437	Cranial hyperostosis	6885	MAP3K7		orphadata	ORPHA:1826
HP:0004437	Cranial hyperostosis	4982	TNFRSF11B		orphadata	ORPHA:2801
HP:0004437	Cranial hyperostosis	2697	GJA1	-	mim2gene	OMIM:218400
HP:0004437	Cranial hyperostosis	50964	SOST	-	mim2gene	OMIM:122860
HP:0004437	Cranial hyperostosis	207	AKT1		orphadata	ORPHA:744
HP:0004437	Cranial hyperostosis	2073	ERCC5		orphadata	ORPHA:910
HP:0004437	Cranial hyperostosis	50964	SOST	-	mim2gene	OMIM:269500
HP:0004437	Cranial hyperostosis	50964	SOST	-	mim2gene	OMIM:239100
HP:0004437	Cranial hyperostosis	23516	SLC39A14	question	mim2gene	OMIM:144755
HP:0004437	Cranial hyperostosis	5573	PRKAR1A	-	mim2gene	OMIM:101800
HP:0004437	Cranial hyperostosis	4041	LRP5		orphadata	ORPHA:3416
HP:0004437	Cranial hyperostosis	6916	TBXAS1		orphadata	ORPHA:1802
HP:0004437	Cranial hyperostosis	10060	ABCC9		orphadata	ORPHA:965
HP:0004437	Cranial hyperostosis	2068	ERCC2		orphadata	ORPHA:910
HP:0004437	Cranial hyperostosis	2778	GNAS	-	mim2gene	OMIM:174800
HP:0004437	Cranial hyperostosis	207	AKT1	-	mim2gene	OMIM:176920
HP:0004437	Cranial hyperostosis	1277	COL1A1		orphadata	ORPHA:1310
HP:0004437	Cranial hyperostosis	2260	FGFR1		orphadata	ORPHA:2396
HP:0004437	Cranial hyperostosis	50964	SOST		orphadata	ORPHA:3152
HP:0004437	Cranial hyperostosis	4854	NOTCH3		orphadata	ORPHA:2789
HP:0004437	Cranial hyperostosis	4796	TONSL		orphadata	ORPHA:93357
HP:0004437	Cranial hyperostosis	2778	GNAS		orphadata	ORPHA:79443
HP:0004437	Cranial hyperostosis	6916	TBXAS1	-	mim2gene	OMIM:231095
HP:0004437	Cranial hyperostosis	2697	GJA1		orphadata	ORPHA:2710
HP:0004437	Cranial hyperostosis	57187	THOC2		orphadata	ORPHA:457240
HP:0004437	Cranial hyperostosis	8600	TNFSF11	-	mim2gene	OMIM:259710
HP:0004437	Cranial hyperostosis	7507	XPA		orphadata	ORPHA:910
HP:0004437	Cranial hyperostosis	10804	GJB6		orphadata	ORPHA:189
HP:0004437	Cranial hyperostosis	1277	COL1A1	-	mim2gene	OMIM:114000
HP:0004437	Cranial hyperostosis	7840	ALMS1	-	mim2gene	OMIM:203800
HP:0004437	Cranial hyperostosis	4038	LRP4		orphadata	ORPHA:3152
HP:0004437	Cranial hyperostosis	55315	SLC29A3		orphadata	ORPHA:1782
HP:0004437	Cranial hyperostosis	760	CA2	-	mim2gene	OMIM:259730
HP:0004437	Cranial hyperostosis	1643	DDB2		orphadata	ORPHA:910
HP:0004437	Cranial hyperostosis	3178	HNRNPA1		orphadata	ORPHA:52430
HP:0004437	Cranial hyperostosis	4041	LRP5		orphadata	ORPHA:2790
HP:0004437	Cranial hyperostosis	3845	KRAS		orphadata	ORPHA:2396
HP:0004437	Cranial hyperostosis	3425	IDUA	-	mim2gene	OMIM:607014
HP:0004437	Cranial hyperostosis	2316	FLNA		orphadata	ORPHA:1826
HP:0004437	Cranial hyperostosis	50964	SOST		orphadata	ORPHA:3416
HP:0004437	Cranial hyperostosis	2697	GJA1		orphadata	ORPHA:1522
HP:0004437	Cranial hyperostosis	5728	PTEN		orphadata	ORPHA:744
HP:0004437	Cranial hyperostosis	8792	TNFRSF11A		orphadata	ORPHA:2801
HP:0004437	Cranial hyperostosis	2072	ERCC4		orphadata	ORPHA:910
HP:0004437	Cranial hyperostosis	50964	SOST		orphadata	ORPHA:1513
HP:0004437	Cranial hyperostosis	139285	AMER1		orphadata	ORPHA:2780
HP:0004437	Cranial hyperostosis	7415	VCP		orphadata	ORPHA:52430
HP:0004437	Cranial hyperostosis	7508	XPC		orphadata	ORPHA:910
HP:0004437	Cranial hyperostosis	2071	ERCC3		orphadata	ORPHA:910
HP:0004437	Cranial hyperostosis	5290	PIK3CA	-	mim2gene	OMIM:612918
HP:0004437	Cranial hyperostosis	84701	COX4I2	-	mim2gene	OMIM:612714
HP:0004437	Cranial hyperostosis	9791	PTDSS1		orphadata	ORPHA:2658
HP:0004437	Cranial hyperostosis	6197	RPS6KA3		orphadata	ORPHA:192
HP:0004437	Cranial hyperostosis	56172	ANKH		orphadata	ORPHA:1522
HP:0004437	Cranial hyperostosis	2316	FLNA		orphadata	ORPHA:2484
HP:0004437	Cranial hyperostosis	3181	HNRNPA2B1		orphadata	ORPHA:52430
HP:0004437	Cranial hyperostosis	4089	SMAD4		orphadata	ORPHA:2588
HP:0004438	Hyperostosis frontalis interna	7840	ALMS1	-	mim2gene	OMIM:203800
HP:0004438	Hyperostosis frontalis interna	2778	GNAS		orphadata	ORPHA:79443
HP:0004439	Craniofacial dysostosis	9343	EFTUD2	-	mim2gene	OMIM:610536
HP:0004439	Craniofacial dysostosis	6231	RPS26	-	mim2gene	OMIM:613309
HP:0004439	Craniofacial dysostosis	5573	PRKAR1A		orphadata	ORPHA:280651
HP:0004439	Craniofacial dysostosis	5144	PDE4D		orphadata	ORPHA:280651
HP:0004439	Craniofacial dysostosis	9533	POLR1C	-	mim2gene	OMIM:248390
HP:0004439	Craniofacial dysostosis	29957	SLC25A24		orphadata	ORPHA:2095
HP:0004439	Craniofacial dysostosis	2263	FGFR2	-	mim2gene	OMIM:123500
HP:0004439	Craniofacial dysostosis	1909	EDNRA	-	mim2gene	OMIM:616367
HP:0004440	Coronal craniosynostosis	9871	SEC24D	-	mim2gene	OMIM:616294
HP:0004440	Coronal craniosynostosis	2260	FGFR1	-	mim2gene	OMIM:101600
HP:0004440	Coronal craniosynostosis	3590	IL11RA	-	mim2gene	OMIM:614188
HP:0004440	Coronal craniosynostosis	29957	SLC25A24	-	mim2gene	OMIM:612289
HP:0004440	Coronal craniosynostosis	153241	CEP120	-	mim2gene	OMIM:616300
