Human Phenotype Ontology

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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 musculoskeletal physiology (HP:0011843)

Parent Node:
Avascular necrosis (HP:0010885)

..Starting node
..Juvenile aseptic necrosis (HP:0100323)

Term ID:

100323

Name:

Juvenile aseptic necrosis

Synonym:

Aseptic epiphyseal necrosis

Definition:

Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.

Comments:

Reference:

HP:0100323

Genes and Diseases:

Child Nodes:

........

Avascular necrosis of the capital femoral epiphysis (HP:0005743)

........

Morbus Koehler (HP:0010888)

........

Morbus Kienboeck (HP:0010889)

........

Morbus Osgood-Schlatter (HP:0010890)

........

Morbus Scheuermann (HP:0010891)

................... HP:0008478 Scheuermann-like vertebral changes

........

Osteochondrosis (HP:0040188)

................... HP:0010886 Osteochondritis Dissecans

Sister Nodes:

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:0100323	HP:0100323	Juvenile aseptic necrosis	0	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans		34
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		373
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		243
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1		284
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease		284
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1		89
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1		89
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome		7
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5		32
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy		9
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome		67
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3		171
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III		171
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	TRPV4 CL E G H	59341	18083	OMIM:617383	AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2		214
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type		2
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0100323	HP:0100323	Juvenile aseptic necrosis	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0100323	HP:0010890	Morbus Osgood-Schlatter	1	CL E G H
HP:0100323	HP:0010889	Morbus Kienboeck	1	CL E G H
HP:0100323	HP:0010888	Morbus Koehler	1	CL E G H
HP:0100323	HP:0040188	Osteochondrosis	1	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans		34
HP:0100323	HP:0040188	Osteochondrosis	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0100323	HP:0040188	Osteochondrosis	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1	.	284
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease	.	284
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare	284
HP:0100323	HP:0010891	Morbus Scheuermann	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0100323	HP:0040188	Osteochondrosis	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040284 - Very rare	89
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0100323	HP:0040188	Osteochondrosis	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	96
HP:0100323	HP:0040188	Osteochondrosis	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	172
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare	9
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	7
HP:0100323	HP:0040188	Osteochondrosis	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	196
HP:0100323	HP:0040188	Osteochondrosis	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional	32
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy		9
HP:0100323	HP:0040188	Osteochondrosis	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0100323	HP:0010891	Morbus Scheuermann	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	67
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0100323	HP:0040188	Osteochondrosis	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0100323	HP:0040188	Osteochondrosis	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040284 - Very rare	56
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040282 - Frequent	171
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	171
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	TRPV4 CL E G H	59341	18083	OMIM:617383	AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2		214
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0100323	HP:0005743	Avascular necrosis of the capital femoral epiphysis	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0100323	HP:0010886	Osteochondritis dissecans	2	ACAN CL E G H	176	319	OMIM:165800	Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans	.	34
HP:0100323	HP:0010886	Osteochondritis dissecans	2	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0100323	HP:0010886	Osteochondritis dissecans	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0100323	HP:0010886	Osteochondritis dissecans	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0100323	HP:0008478	Scheuermann-like vertebral changes	2	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0100323	HP:0010886	Osteochondritis dissecans	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional	260
HP:0100323	HP:0010886	Osteochondritis dissecans	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260

Genes (41) :ACAN ACTB ACTG1 ADAMTS2 ADAMTSL2 ATP7A COL1A1 COL1A2 COL2A1 COL9A2 COMP CREBBP DVL1 DVL3 DYRK1A EP300 EXT1 FGFR1 FN1 FZD2 INPP5K KRAS LMX1B MATN3 NEK9 ORC1 PHF6 RAB3GAP2 SIL1 SKIC3 SLC2A10 SMAD3 SRCAP TINF2 TONSL TREX1 TRPS1 TRPV4 UFSP2 UNC45A WNT5A

Diseases (40) :OMIM:165800 ORPHA:2995 ORPHA:1901 ORPHA:198 ORPHA:1899 OMIM:608805 OMIM:150600 ORPHA:93315 OMIM:108300 OMIM:600204 OMIM:132400 ORPHA:93308 ORPHA:353281 ORPHA:353277 ORPHA:3107 ORPHA:268261 ORPHA:353284 ORPHA:502 ORPHA:2396 ORPHA:559 ORPHA:2614 ORPHA:93311 OMIM:614262 OMIM:224690 OMIM:301900 OMIM:212720 OMIM:222470 ORPHA:3342 ORPHA:284984 OMIM:613795 ORPHA:2044 OMIM:613990 ORPHA:93357 ORPHA:247691 ORPHA:77258 OMIM:190350 OMIM:190351 OMIM:617383 OMIM:142669 OMIM:619377

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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