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:
Abnormality of the skeletal system (HP:0000924)

Parent Node:
Abnormal musculoskeletal physiology (HP:0011843)

..Starting node
..Avascular necrosis (HP:0010885)

Term ID:

10885

Name:

Avascular necrosis

Synonym:

Aseptic bone necrosis; Aseptic necrosis; Bone infarction; Death of bone due to decreased blood supply; Ischaemic bone necrosis; Ischemic bone necrosis; Osteochondronecrosis; Osteonecrosis

Definition:

A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.

Comments:

Reference:

HP:0010885

Genes and Diseases:

Child Nodes:

........

Juvenile aseptic necrosis (HP:0100323)

................... HP:0005743 Avascular necrosis of the capital femoral epiphysis
................... HP:0010888 Morbus Koehler
................... HP:0010889 Morbus Kienboeck
................... HP:0010890 Morbus Osgood-Schlatter
................... HP:0010891 Morbus Scheuermann
................... HP:0040188 Osteochondrosis

Sister Nodes:

Abnormality of skeletal maturation (HP:0000927)

Bone pain (HP:0002653)

Increased susceptibility to fractures (HP:0002659)

Limb pain (HP:0009763)

Osteomyelitis (HP:0002754)

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:0010885	HP:0010885	Avascular 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:0010885	HP:0010885	Avascular necrosis	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0010885	HP:0010885	Avascular necrosis	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0010885	HP:0010885	Avascular necrosis	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0010885	HP:0010885	Avascular necrosis	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0010885	HP:0010885	Avascular necrosis	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.	120
HP:0010885	HP:0010885	Avascular necrosis	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0010885	HP:0010885	Avascular necrosis	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040283 - Occasional	169
HP:0010885	HP:0010885	Avascular necrosis	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040283 - Occasional	276
HP:0010885	HP:0010885	Avascular necrosis	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0010885	HP:0010885	Avascular necrosis	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0010885	HP:0010885	Avascular necrosis	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040283 - Occasional	636
HP:0010885	HP:0010885	Avascular necrosis	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040281 - Very frequent	102
HP:0010885	HP:0010885	Avascular necrosis	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		373
HP:0010885	HP:0010885	Avascular necrosis	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		243
HP:0010885	HP:0010885	Avascular necrosis	0	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1		284
HP:0010885	HP:0010885	Avascular necrosis	0	COL2A1 CL E G H	1280	2200	ORPHA:2380	Legg-Calvé-Perthes disease	HP:0040281 - Very frequent	284
HP:0010885	HP:0010885	Avascular necrosis	0	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease		284
HP:0010885	HP:0010885	Avascular necrosis	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0010885	HP:0010885	Avascular necrosis	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0010885	HP:0010885	Avascular necrosis	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0010885	HP:0010885	Avascular necrosis	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1		89
HP:0010885	HP:0010885	Avascular necrosis	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1		89
HP:0010885	HP:0010885	Avascular necrosis	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0010885	HP:0010885	Avascular necrosis	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0010885	HP:0010885	Avascular necrosis	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	160
HP:0010885	HP:0010885	Avascular necrosis	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	65
HP:0010885	HP:0010885	Avascular necrosis	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0010885	HP:0010885	Avascular necrosis	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0010885	HP:0010885	Avascular necrosis	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0010885	HP:0010885	Avascular necrosis	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040283 - Occasional	133
HP:0010885	HP:0010885	Avascular necrosis	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0010885	HP:0010885	Avascular necrosis	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0010885	HP:0010885	Avascular necrosis	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0010885	HP:0010885	Avascular necrosis	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0010885	HP:0010885	Avascular necrosis	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0010885	HP:0010885	Avascular necrosis	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0010885	HP:0010885	Avascular necrosis	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0010885	HP:0010885	Avascular necrosis	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent
HP:0010885	HP:0010885	Avascular necrosis	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040281 - Very frequent
HP:0010885	HP:0010885	Avascular necrosis	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0010885	HP:0010885	Avascular necrosis	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040282 - Frequent	580
HP:0010885	HP:0010885	Avascular necrosis	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0010885	HP:0010885	Avascular necrosis	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	55
HP:0010885	HP:0010885	Avascular necrosis	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0010885	HP:0010885	Avascular necrosis	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0010885	HP:0010885	Avascular necrosis	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0010885	HP:0010885	Avascular necrosis	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0010885	HP:0010885	Avascular necrosis	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0010885	HP:0010885	Avascular necrosis	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0010885	HP:0010885	Avascular necrosis	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome		7
HP:0010885	HP:0010885	Avascular necrosis	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0010885	HP:0010885	Avascular necrosis	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0010885	HP:0010885	Avascular necrosis	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0010885	HP:0010885	Avascular necrosis	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0010885	HP:0010885	Avascular necrosis	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0010885	HP:0010885	Avascular necrosis	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5		32
HP:0010885	HP:0010885	Avascular necrosis	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0010885	HP:0010885	Avascular necrosis	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy		9
HP:0010885	HP:0010885	Avascular necrosis	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	27
HP:0010885	HP:0010885	Avascular necrosis	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	17
HP:0010885	HP:0010885	Avascular necrosis	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	12
HP:0010885	HP:0010885	Avascular necrosis	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040283 - Occasional	79
HP:0010885	HP:0010885	Avascular necrosis	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040283 - Occasional	97
HP:0010885	HP:0010885	Avascular necrosis	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0010885	HP:0010885	Avascular necrosis	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	26
HP:0010885	HP:0010885	Avascular necrosis	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0010885	HP:0010885	Avascular necrosis	0	PTPN11 CL E G H	5781	9644	ORPHA:2499	Metachondromatosis	HP:0040281 - Very frequent	291
HP:0010885	HP:0010885	Avascular necrosis	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0010885	HP:0010885	Avascular necrosis	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	77
HP:0010885	HP:0010885	Avascular necrosis	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent	77
HP:0010885	HP:0010885	Avascular necrosis	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040281 - Very frequent	134
HP:0010885	HP:0010885	Avascular necrosis	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome		67
HP:0010885	HP:0010885	Avascular necrosis	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0010885	HP:0010885	Avascular necrosis	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0010885	HP:0010885	Avascular necrosis	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional	13
HP:0010885	HP:0010885	Avascular necrosis	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0010885	HP:0010885	Avascular necrosis	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010885	HP:0010885	Avascular necrosis	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0010885	HP:0010885	Avascular necrosis	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0010885	HP:0010885	Avascular necrosis	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	48
HP:0010885	HP:0010885	Avascular necrosis	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	238
HP:0010885	HP:0010885	Avascular necrosis	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0010885	HP:0010885	Avascular necrosis	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	60
HP:0010885	HP:0010885	Avascular necrosis	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0010885	HP:0010885	Avascular necrosis	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0010885	HP:0010885	Avascular necrosis	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0010885	HP:0010885	Avascular necrosis	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040283 - Occasional	911
HP:0010885	HP:0010885	Avascular necrosis	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0010885	HP:0010885	Avascular necrosis	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3		171
HP:0010885	HP:0010885	Avascular necrosis	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0010885	HP:0010885	Avascular necrosis	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0010885	HP:0010885	Avascular necrosis	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III		171
HP:0010885	HP:0010885	Avascular necrosis	0	TRPV4 CL E G H	59341	18083	OMIM:617383	AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2		214
HP:0010885	HP:0010885	Avascular necrosis	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	1
HP:0010885	HP:0010885	Avascular necrosis	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0010885	HP:0010885	Avascular necrosis	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type		2
HP:0010885	HP:0010885	Avascular necrosis	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0010885	HP:0010885	Avascular necrosis	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	8
HP:0010885	HP:0010885	Avascular necrosis	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040283 - Occasional	1
HP:0010885	HP:0010885	Avascular necrosis	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040283 - Occasional	7
HP:0010885	HP:0010885	Avascular necrosis	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0010885	HP:0010885	Avascular necrosis	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional	40
HP:0010885	HP:0010885	Avascular necrosis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0010885	HP:0100323	Juvenile aseptic necrosis	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:0010885	HP:0100323	Juvenile aseptic necrosis	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		165
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome		72
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		373
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome		243
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1		284
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease		284
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1		89
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1		89
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome		14
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome		5
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion		134
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2		96
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome		7
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5		32
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy		9
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome		67
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3		171
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2		171
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I		171
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III		171
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	TRPV4 CL E G H	59341	18083	OMIM:617383	AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2		214
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type		2
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0010885	HP:0100323	Juvenile aseptic necrosis	1	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome		98
HP:0010885	HP:0010890	Morbus Osgood-Schlatter	2	CL E G H
HP:0010885	HP:0010889	Morbus Kienboeck	2	CL E G H
HP:0010885	HP:0010888	Morbus Koehler	2	CL E G H
HP:0010885	HP:0040188	Osteochondrosis	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:0010885	HP:0040188	Osteochondrosis	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0010885	HP:0040188	Osteochondrosis	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1	.	284
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease	.	284
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare	284
HP:0010885	HP:0010891	Morbus Scheuermann	2	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0010885	HP:0040188	Osteochondrosis	2	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040284 - Very rare	89
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0010885	HP:0040188	Osteochondrosis	2	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:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	96
HP:0010885	HP:0040188	Osteochondrosis	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	172
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare	9
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	7
HP:0010885	HP:0040188	Osteochondrosis	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040283 - Occasional	196
HP:0010885	HP:0040188	Osteochondrosis	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome		165
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional	32
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy		9
HP:0010885	HP:0040188	Osteochondrosis	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0010885	HP:0010891	Morbus Scheuermann	2	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome		29
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	67
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0010885	HP:0040188	Osteochondrosis	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0010885	HP:0040188	Osteochondrosis	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040284 - Very rare	56
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040282 - Frequent	171
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	171
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	TRPV4 CL E G H	59341	18083	OMIM:617383	AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2		214
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0010885	HP:0005743	Avascular necrosis of the capital femoral epiphysis	2	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98
HP:0010885	HP:0010886	Osteochondritis dissecans	3	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:0010885	HP:0010886	Osteochondritis dissecans	3	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0010885	HP:0010886	Osteochondritis dissecans	3	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0010885	HP:0010886	Osteochondritis dissecans	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0010885	HP:0008478	Scheuermann-like vertebral changes	3	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29
HP:0010885	HP:0010886	Osteochondritis dissecans	3	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional	260
HP:0010885	HP:0010886	Osteochondritis dissecans	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260

Genes (90) :ACAN ACTB ACTG1 ADAMTS2 ADAMTSL2 ARSB ATP7A ATRX BRAF C4A CCR1 CDH23 CLCN7 COL1A1 COL1A2 COL2A1 COL9A2 COMP CREBBP CTC1 DKC1 DVL1 DVL3 DYRK1A ELP1 EP300 ERAP1 EXT1 FAS FGFR1 FN1 FZD2 GBA1 HBB HLA-B HPGD IFNGR1 IL10 IL12A IL12A-AS1 IL23R IL6ST INPP5K KLRC4 KRAS LMNA LMX1B MAN2B1 MATN3 MEFV NEK9 NHP2 NOP10 NPM1 NR3C1 NTRK1 ORC1 PARN PHF6 PTPN11 RAB3GAP2 RTEL1 SCARB2 SH3PXD2B SIL1 SKIC3 SLC2A10 SLCO2A1 SMAD3 SRCAP STAT4 TERC TERT TINF2 TLR4 TONSL TP53 TREX1 TRPS1 TRPV4 TYMS UBAC2 UFSP2 UNC45A USB1 USP48 USP8 WNT5A WRAP53 ZMPSTE24

Diseases (59) :OMIM:165800 ORPHA:2995 ORPHA:1901 OMIM:253200 ORPHA:198 ORPHA:96253 ORPHA:117 ORPHA:53 ORPHA:1899 OMIM:608805 ORPHA:2380 OMIM:150600 ORPHA:93315 OMIM:108300 OMIM:600204 OMIM:132400 ORPHA:93308 ORPHA:353281 ORPHA:353277 ORPHA:1775 ORPHA:3107 ORPHA:268261 ORPHA:1764 ORPHA:353284 ORPHA:502 ORPHA:2396 ORPHA:77259 ORPHA:77261 OMIM:230800 ORPHA:232 ORPHA:2796 OMIM:619750 ORPHA:559 ORPHA:740 ORPHA:2614 ORPHA:309282 ORPHA:93311 OMIM:614262 ORPHA:642 OMIM:224690 OMIM:301900 ORPHA:2499 OMIM:212720 ORPHA:137834 OMIM:222470 ORPHA:3342 ORPHA:284984 OMIM:613795 ORPHA:2044 OMIM:613989 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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