Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Behavioral abnormality (HP:0000708)

Parent Node:
Abnormal consumption behavior (HP:0040202)

..Starting node
..Abnormal drinking behavior (HP:0030082)

Term ID:

30082

Name:

Abnormal drinking behavior

Synonym:

Abnormal drinking behavior; Abnormal drinking behaviour

Definition:

Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.

Comments:

Reference:

HP:0030082

Genes and Diseases:

Child Nodes:

........

Polydipsia (HP:0001959)

........

Hypodipsia (HP:0025382)

Sister Nodes:

Abnormal eating behavior (HP:0100738)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030082	HP:0030082	Abnormal drinking behavior	0	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0030082	HP:0030082	Abnormal drinking behavior	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus		75
HP:0030082	HP:0030082	Abnormal drinking behavior	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0030082	HP:0030082	Abnormal drinking behavior	0	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus		22
HP:0030082	HP:0030082	Abnormal drinking behavior	0	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked		67
HP:0030082	HP:0030082	Abnormal drinking behavior	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus		67
HP:0030082	HP:0030082	Abnormal drinking behavior	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0030082	HP:0030082	Abnormal drinking behavior	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0030082	HP:0030082	Abnormal drinking behavior	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0030082	HP:0030082	Abnormal drinking behavior	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe		272
HP:0030082	HP:0030082	Abnormal drinking behavior	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0030082	HP:0030082	Abnormal drinking behavior	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0030082	HP:0030082	Abnormal drinking behavior	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome		3
HP:0030082	HP:0030082	Abnormal drinking behavior	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0030082	HP:0030082	Abnormal drinking behavior	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0030082	HP:0030082	Abnormal drinking behavior	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal		58
HP:0030082	HP:0030082	Abnormal drinking behavior	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0030082	HP:0030082	Abnormal drinking behavior	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis		178
HP:0030082	HP:0030082	Abnormal drinking behavior	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis		178
HP:0030082	HP:0030082	Abnormal drinking behavior	0	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I		112
HP:0030082	HP:0030082	Abnormal drinking behavior	0	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I		73
HP:0030082	HP:0030082	Abnormal drinking behavior	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0030082	HP:0030082	Abnormal drinking behavior	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease		4
HP:0030082	HP:0030082	Abnormal drinking behavior	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum		172
HP:0030082	HP:0030082	Abnormal drinking behavior	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum		21
HP:0030082	HP:0030082	Abnormal drinking behavior	0	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1		161
HP:0030082	HP:0030082	Abnormal drinking behavior	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease		90
HP:0030082	HP:0030082	Abnormal drinking behavior	0	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome		9
HP:0030082	HP:0030082	Abnormal drinking behavior	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess		14
HP:0030082	HP:0030082	Abnormal drinking behavior	0	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1		2
HP:0030082	HP:0030082	Abnormal drinking behavior	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome		229
HP:0030082	HP:0030082	Abnormal drinking behavior	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease		1
HP:0030082	HP:0030082	Abnormal drinking behavior	0	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1
HP:0030082	HP:0030082	Abnormal drinking behavior	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0030082	HP:0030082	Abnormal drinking behavior	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome		121
HP:0030082	HP:0030082	Abnormal drinking behavior	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0030082	HP:0030082	Abnormal drinking behavior	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III		128
HP:0030082	HP:0030082	Abnormal drinking behavior	0	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III		128
HP:0030082	HP:0030082	Abnormal drinking behavior	0	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome		5
HP:0030082	HP:0030082	Abnormal drinking behavior	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0030082	HP:0030082	Abnormal drinking behavior	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0030082	HP:0030082	Abnormal drinking behavior	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria		217
HP:0030082	HP:0030082	Abnormal drinking behavior	0	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1		85
HP:0030082	HP:0030082	Abnormal drinking behavior	0	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1		85
HP:0030082	HP:0030082	Abnormal drinking behavior	0	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3		157
HP:0030082	HP:0030082	Abnormal drinking behavior	0	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4		220
HP:0030082	HP:0030082	Abnormal drinking behavior	0	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4		220
HP:0030082	HP:0030082	Abnormal drinking behavior	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum		41
HP:0030082	HP:0030082	Abnormal drinking behavior	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease		563
HP:0030082	HP:0030082	Abnormal drinking behavior	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum		34
HP:0030082	HP:0030082	Abnormal drinking behavior	0	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1		3
HP:0030082	HP:0030082	Abnormal drinking behavior	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0030082	HP:0030082	Abnormal drinking behavior	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0030082	HP:0030082	Abnormal drinking behavior	0	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0030082	HP:0030082	Abnormal drinking behavior	0	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria		41
HP:0030082	HP:0030082	Abnormal drinking behavior	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum		33
HP:0030082	HP:0030082	Abnormal drinking behavior	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum		24
HP:0030082	HP:0030082	Abnormal drinking behavior	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11		166
HP:0030082	HP:0030082	Abnormal drinking behavior	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0030082	HP:0030082	Abnormal drinking behavior	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome		389
HP:0030082	HP:0025382	Hypodipsia	1	CL E G H
HP:0030082	HP:0001959	Polydipsia	1	AQP2 CL E G H	359	634	OMIM:125800	Diabetes insipidus, nephrogenic, 2		75
HP:0030082	HP:0001959	Polydipsia	1	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040282 - Frequent	75
HP:0030082	HP:0001959	Polydipsia	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0030082	HP:0001959	Polydipsia	1	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus	HP:0040281 - Very frequent	22
HP:0030082	HP:0001959	Polydipsia	1	AVPR2 CL E G H	554	897	OMIM:304800	Diabetes insipidus, nephrogenic, X-linked	.	67
HP:0030082	HP:0001959	Polydipsia	1	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040282 - Frequent	67
HP:0030082	HP:0001959	Polydipsia	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0030082	HP:0001959	Polydipsia	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0030082	HP:0001959	Polydipsia	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent	51
HP:0030082	HP:0001959	Polydipsia	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0030082	HP:0001959	Polydipsia	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040282 - Frequent	169
HP:0030082	HP:0001959	Polydipsia	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent	169
HP:0030082	HP:0001959	Polydipsia	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040281 - Very frequent	3
HP:0030082	HP:0001959	Polydipsia	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0030082	HP:0001959	Polydipsia	1	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome	.	3
HP:0030082	HP:0001959	Polydipsia	1	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0030082	HP:0001959	Polydipsia	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0030082	HP:0001959	Polydipsia	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent	178
HP:0030082	HP:0001959	Polydipsia	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040283 - Occasional	178
HP:0030082	HP:0001959	Polydipsia	1	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional	112
HP:0030082	HP:0001959	Polydipsia	1	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional	73
HP:0030082	HP:0001959	Polydipsia	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0030082	HP:0001959	Polydipsia	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0030082	HP:0001959	Polydipsia	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	172
HP:0030082	HP:0001959	Polydipsia	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	21
HP:0030082	HP:0001959	Polydipsia	1	HNF1A CL E G H	6927	11621	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	161
HP:0030082	HP:0001959	Polydipsia	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional	90
HP:0030082	HP:0001959	Polydipsia	1	HPSE2 CL E G H	60495	18374	ORPHA:2704	Ochoa syndrome	HP:0040283 - Occasional	9
HP:0030082	HP:0001959	Polydipsia	1	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040282 - Frequent	14
HP:0030082	HP:0001959	Polydipsia	1	IL6 CL E G H	3569	6018	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	2
HP:0030082	HP:0001959	Polydipsia	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional	229
HP:0030082	HP:0001959	Polydipsia	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional	1
HP:0030082	HP:0001959	Polydipsia	1	ITPR3 CL E G H	3710	6182	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.
HP:0030082	HP:0001959	Polydipsia	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0030082	HP:0001959	Polydipsia	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040282 - Frequent	121
HP:0030082	HP:0001959	Polydipsia	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0030082	HP:0001959	Polydipsia	1	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040283 - Occasional	128
HP:0030082	HP:0001959	Polydipsia	1	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III	HP:0040283 - Occasional	128
HP:0030082	HP:0001959	Polydipsia	1	LRIG2 CL E G H	9860	20889	ORPHA:2704	Ochoa syndrome	HP:0040283 - Occasional	5
HP:0030082	HP:0001959	Polydipsia	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17		4
HP:0030082	HP:0001959	Polydipsia	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040283 - Occasional	217
HP:0030082	HP:0001959	Polydipsia	1	NPHP1 CL E G H	4867	7905	OMIM:256100	Nephronophthisis 1	.	85
HP:0030082	HP:0001959	Polydipsia	1	NPHP1 CL E G H	4867	7905	OMIM:266900	Senior-Loken syndrome 1	.	85
HP:0030082	HP:0001959	Polydipsia	1	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3	.	157
HP:0030082	HP:0001959	Polydipsia	1	NPHP4 CL E G H	261734	19104	OMIM:606966	Nephronophthisis 4	.	220
HP:0030082	HP:0001959	Polydipsia	1	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.	220
HP:0030082	HP:0001959	Polydipsia	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	41
HP:0030082	HP:0001959	Polydipsia	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0030082	HP:0001959	Polydipsia	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	34
HP:0030082	HP:0001959	Polydipsia	1	PTPN22 CL E G H	26191	9652	OMIM:222100	Diabetes mellitus, insulin-dependent-1	.	3
HP:0030082	HP:0001959	Polydipsia	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0030082	HP:0001959	Polydipsia	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0030082	HP:0001959	Polydipsia	1	SLC41A1 CL E G H	254428	19429	OMIM:619468	NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2
HP:0030082	HP:0001959	Polydipsia	1	SLC5A2 CL E G H	6524	11037	OMIM:233100	Renal glucosuria	.	41
HP:0030082	HP:0001959	Polydipsia	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	33
HP:0030082	HP:0001959	Polydipsia	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional	24
HP:0030082	HP:0001959	Polydipsia	1	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11		166
HP:0030082	HP:0001959	Polydipsia	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0030082	HP:0001959	Polydipsia	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040281 - Very frequent	389

Genes (49) :AQP2 ARNT2 AVP AVPR2 BBS9 BSND CACNA1D CASR CDC73 CISD2 CLCNKB CLDN10 CLDN16 CTNS CYP11B1 CYP11B2 DCDC2 DZIP1L FGFR1 HESX1 HNF1A HNF1B HPSE2 HSD11B2 IL6 INSR IRF4 ITPR3 KCNJ1 KCNJ10 KCNJ5 LRIG2 LZTFL1 NKX2-1 NLRP3 NPHP1 NPHP3 NPHP4 OTX2 PKHD1 PROKR2 PTPN22 SLC12A3 SLC41A1 SLC5A2 SOX2 SOX3 TMEM67 WFS1

Diseases (44) :OMIM:125800 ORPHA:223 ORPHA:3157 ORPHA:30925 OMIM:304800 OMIM:615986 OMIM:602522 ORPHA:369929 OMIM:239200 ORPHA:99880 ORPHA:143 ORPHA:3463 ORPHA:358 OMIM:617671 OMIM:248250 OMIM:219800 ORPHA:411629 ORPHA:411634 ORPHA:403 ORPHA:84081 ORPHA:731 OMIM:222100 ORPHA:93111 ORPHA:2704 ORPHA:320 ORPHA:769 ORPHA:3452 OMIM:241200 ORPHA:199343 OMIM:612780 ORPHA:251274 OMIM:613677 OMIM:615994 ORPHA:209905 ORPHA:47045 OMIM:256100 OMIM:266900 OMIM:604387 OMIM:606966 OMIM:606996 OMIM:263800 OMIM:619468 OMIM:233100 OMIM:613550

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen