Human Phenotype Ontology

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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:
Abnormal elasticity of skin (HP:0010647)

Parent Node:
Abnormally lax or hyperextensible skin (HP:0008067)

..Starting node
..Hyperextensible skin (HP:0000974)

Term ID:

974

Name:

Hyperextensible skin

Synonym:

Hyperelastic skin; Skin hyperelasticity; Skin hyperextensibility; Stretchable skin

Definition:

A condition in which the skin can be stretched beyond normal, and then returns to its initial position.

Comments:

Reference:

HP:0000974

Genes and Diseases:

Child Nodes:

........

Focal hyperextensible skin (HP:0007458)

................... HP:0007425 Hyperextensible skin of face
................... HP:0011930 Hyperextensible skin of chest

Sister Nodes:

Cutis laxa (HP:0000973)

Delayed recoil upon stretching of skin (HP:0025087)

Excessive wrinkled skin (HP:0007392)

Increased number of skin folds (HP:0007522)

Localized area of pendulous skin (HP:0025182)

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:0000974	HP:0000974	Hyperextensible skin	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0000974	HP:0000974	Hyperextensible skin	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0000974	HP:0000974	Hyperextensible skin	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0000974	HP:0000974	Hyperextensible skin	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040281 - Very frequent
HP:0000974	HP:0000974	Hyperextensible skin	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0000974	HP:0000974	Hyperextensible skin	0	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2	.	19
HP:0000974	HP:0000974	Hyperextensible skin	0	ALDH18A1 CL E G H	5832	9722	ORPHA:35664	ALDH18A1-related De Barsy syndrome	HP:0040281 - Very frequent	89
HP:0000974	HP:0000974	Hyperextensible skin	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0000974	HP:0000974	Hyperextensible skin	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0000974	HP:0000974	Hyperextensible skin	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040281 - Very frequent	192
HP:0000974	HP:0000974	Hyperextensible skin	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0000974	HP:0000974	Hyperextensible skin	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040281 - Very frequent	192
HP:0000974	HP:0000974	Hyperextensible skin	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent	38
HP:0000974	HP:0000974	Hyperextensible skin	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.	38
HP:0000974	HP:0000974	Hyperextensible skin	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional	38
HP:0000974	HP:0000974	Hyperextensible skin	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0000974	HP:0000974	Hyperextensible skin	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	5
HP:0000974	HP:0000974	Hyperextensible skin	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	29
HP:0000974	HP:0000974	Hyperextensible skin	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0000974	HP:0000974	Hyperextensible skin	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0000974	HP:0000974	Hyperextensible skin	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	276
HP:0000974	HP:0000974	Hyperextensible skin	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1	.	15
HP:0000974	HP:0000974	Hyperextensible skin	0	C1R CL E G H	715	1246	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040282 - Frequent	15
HP:0000974	HP:0000974	Hyperextensible skin	0	C1S CL E G H	716	1247	ORPHA:75392	Periodontal Ehlers-Danlos syndrome	HP:0040282 - Frequent	7
HP:0000974	HP:0000974	Hyperextensible skin	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0000974	HP:0000974	Hyperextensible skin	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	27
HP:0000974	HP:0000974	Hyperextensible skin	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	165
HP:0000974	HP:0000974	Hyperextensible skin	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0000974	HP:0000974	Hyperextensible skin	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0000974	HP:0000974	Hyperextensible skin	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0000974	HP:0000974	Hyperextensible skin	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0000974	HP:0000974	Hyperextensible skin	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0000974	HP:0000974	Hyperextensible skin	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0000974	HP:0000974	Hyperextensible skin	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0000974	HP:0000974	Hyperextensible skin	0	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0000974	HP:0000974	Hyperextensible skin	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.	243
HP:0000974	HP:0000974	Hyperextensible skin	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.	243
HP:0000974	HP:0000974	Hyperextensible skin	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0000974	HP:0000974	Hyperextensible skin	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	660
HP:0000974	HP:0000974	Hyperextensible skin	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0000974	HP:0000974	Hyperextensible skin	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0000974	HP:0000974	Hyperextensible skin	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040281 - Very frequent	325
HP:0000974	HP:0000974	Hyperextensible skin	0	COL5A2 CL E G H	1290	2210	OMIM:130010	Ehlers-Danlos syndrome, classic type, 2		325
HP:0000974	HP:0000974	Hyperextensible skin	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent	13
HP:0000974	HP:0000974	Hyperextensible skin	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	223
HP:0000974	HP:0000974	Hyperextensible skin	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0000974	HP:0000974	Hyperextensible skin	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0000974	HP:0000974	Hyperextensible skin	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional	3
HP:0000974	HP:0000974	Hyperextensible skin	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0000974	HP:0000974	Hyperextensible skin	0	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0000974	HP:0000974	Hyperextensible skin	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0000974	HP:0000974	Hyperextensible skin	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	1361
HP:0000974	HP:0000974	Hyperextensible skin	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent	62
HP:0000974	HP:0000974	Hyperextensible skin	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0000974	HP:0000974	Hyperextensible skin	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0000974	HP:0000974	Hyperextensible skin	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0000974	HP:0000974	Hyperextensible skin	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	.	13
HP:0000974	HP:0000974	Hyperextensible skin	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040281 - Very frequent	13
HP:0000974	HP:0000974	Hyperextensible skin	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0000974	HP:0000974	Hyperextensible skin	0	FLNA CL E G H	2316	3754	ORPHA:75497	X-linked Ehlers-Danlos syndrome	HP:0040281 - Very frequent	493
HP:0000974	HP:0000974	Hyperextensible skin	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0000974	HP:0000974	Hyperextensible skin	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	52
HP:0000974	HP:0000974	Hyperextensible skin	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000974	HP:0000974	Hyperextensible skin	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0000974	HP:0000974	Hyperextensible skin	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional	229
HP:0000974	HP:0000974	Hyperextensible skin	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000974	HP:0000974	Hyperextensible skin	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040284 - Very rare	99
HP:0000974	HP:0000974	Hyperextensible skin	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0000974	HP:0000974	Hyperextensible skin	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0000974	HP:0000974	Hyperextensible skin	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0000974	HP:0000974	Hyperextensible skin	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0000974	HP:0000974	Hyperextensible skin	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0000974	HP:0000974	Hyperextensible skin	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.	178
HP:0000974	HP:0000974	Hyperextensible skin	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0000974	HP:0000974	Hyperextensible skin	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.	28
HP:0000974	HP:0000974	Hyperextensible skin	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0000974	HP:0000974	Hyperextensible skin	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040281 - Very frequent	105
HP:0000974	HP:0000974	Hyperextensible skin	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040281 - Very frequent	58
HP:0000974	HP:0000974	Hyperextensible skin	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	291
HP:0000974	HP:0000974	Hyperextensible skin	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0000974	HP:0000974	Hyperextensible skin	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	53
HP:0000974	HP:0000974	Hyperextensible skin	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	212
HP:0000974	HP:0000974	Hyperextensible skin	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.	43
HP:0000974	HP:0000974	Hyperextensible skin	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040281 - Very frequent	43
HP:0000974	HP:0000974	Hyperextensible skin	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0000974	HP:0000974	Hyperextensible skin	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0000974	HP:0000974	Hyperextensible skin	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0000974	HP:0000974	Hyperextensible skin	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	150
HP:0000974	HP:0000974	Hyperextensible skin	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040283 - Occasional	166
HP:0000974	HP:0000974	Hyperextensible skin	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0000974	HP:0000974	Hyperextensible skin	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3	.	24
HP:0000974	HP:0000974	Hyperextensible skin	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	24
HP:0000974	HP:0000974	Hyperextensible skin	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0000974	HP:0000974	Hyperextensible skin	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0000974	HP:0000974	Hyperextensible skin	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0000974	HP:0000974	Hyperextensible skin	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0000974	HP:0000974	Hyperextensible skin	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040282 - Frequent	134
HP:0000974	HP:0000974	Hyperextensible skin	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.	134
HP:0000974	HP:0000974	Hyperextensible skin	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040282 - Frequent	7
HP:0000974	HP:0000974	Hyperextensible skin	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0000974	HP:0000974	Hyperextensible skin	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040283 - Occasional	5
HP:0000974	HP:0000974	Hyperextensible skin	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0000974	HP:0000974	Hyperextensible skin	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040281 - Very frequent	397
HP:0000974	HP:0007458	Focal hyperextensible skin	1	CL E G H
HP:0000974	HP:0011930	Hyperextensible skin of chest	2	CL E G H
HP:0000974	HP:0007425	Hyperextensible skin of face	2	CL E G H

Genes (71) :ABCC6 ADAMTS2 ADAMTSL2 AEBP1 AKT3 ALDH18A1 ANTXR1 ATP7A B3GALT6 B3GAT3 B4GALT7 BRAF C1R C1S CHST14 CHST3 COL12A1 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DSE EHMT1 ELN ENPP1 EXOC6B FBLN5 FBN1 FGD1 FGF10 FGFR2 FGFR3 FKBP14 FLNA GBA1 GORAB H4C5 IARS1 INSR IPO8 KMT2C KRAS LZTR1 MAP2K1 MAP2K2 PAX2 PDGFRB PLOD1 PRDM5 PTPN11 PUF60 PYCR1 RAF1 RIN2 RIT1 SHOC2 SKI SLC26A2 SLC2A10 SLC39A13 SLC7A7 SMARCD2 SON TGFB2 TNXB TWIST2 WLS XYLT2 YY1 ZNF469

Diseases (81) :ORPHA:758 ORPHA:1901 ORPHA:536532 OMIM:618000 OMIM:615937 ORPHA:35664 ORPHA:90348 ORPHA:2067 ORPHA:565 OMIM:304150 ORPHA:198 ORPHA:536467 OMIM:615349 ORPHA:93359 OMIM:271640 OMIM:245600 ORPHA:75496 OMIM:130070 ORPHA:1340 ORPHA:500 OMIM:130080 ORPHA:75392 OMIM:601776 ORPHA:2953 ORPHA:536516 ORPHA:1899 ORPHA:287 OMIM:619115 OMIM:130060 ORPHA:230851 OMIM:619120 OMIM:617821 OMIM:225320 OMIM:130050 OMIM:130000 OMIM:619329 OMIM:130010 ORPHA:261652 OMIM:619764 OMIM:608895 ORPHA:2462 ORPHA:915 OMIM:149730 OMIM:614557 ORPHA:300179 ORPHA:555877 ORPHA:75497 ORPHA:2072 ORPHA:2078 OMIM:619950 ORPHA:541423 ORPHA:508 OMIM:619472 OMIM:616564 OMIM:605275 OMIM:615280 OMIM:120330 OMIM:616592 OMIM:225400 ORPHA:1900 ORPHA:90354 ORPHA:508498 OMIM:613075 ORPHA:217335 OMIM:615355 OMIM:607721 OMIM:182212 ORPHA:628 ORPHA:3342 OMIM:612350 ORPHA:157965 OMIM:222700 OMIM:617475 OMIM:617140 OMIM:614816 ORPHA:230839 OMIM:606408 ORPHA:1231 OMIM:619648 ORPHA:85194 ORPHA:506358

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

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