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:
Avascular necrosis (HP:0010885)

Parent Node:
Abnormality of the epiphysis of the femoral head (HP:0010574)

Parent Node:
Juvenile aseptic necrosis (HP:0100323)

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

Term ID:

5743

Name:

Avascular necrosis of the capital femoral epiphysis

Synonym:

Coxa plana; Legg-Calve-Perthes syndrome; Legg-Perthes disease; Morbus Legg-Calve-Perthes; Osteochondrosis of the femoral head; Osteonecrosis of the femoral head; Perthes-like femoral head changes

Definition:

Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.

Comments:

Reference:

HP:0005743

Genes and Diseases:

Child Nodes:

Sister Nodes:

Morbus Kienboeck (HP:0010889)

Morbus Koehler (HP:0010888)

Morbus Osgood-Schlatter (HP:0010890)

Morbus Scheuermann (HP:0010891)

Osteochondrosis (HP:0040188)

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:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	373
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent	243
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1	.	284
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	COL2A1 CL E G H	1280	2200	OMIM:150600	Legg-Calve-Perthes disease	.	284
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare	284
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.	89
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040284 - Very rare	89
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	14
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	5
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	96
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare	9
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	7
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional	32
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy		9
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	67
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040284 - Very rare	56
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	TRPS1 CL E G H	7227	12340	ORPHA:77258	Trichorhinophalangeal syndrome type 1 and 3	HP:0040282 - Frequent	171
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	171
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	TRPV4 CL E G H	59341	18083	OMIM:617383	AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2; ANFH2		214
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0005743	HP:0005743	Avascular necrosis of the capital femoral epiphysis	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040283 - Occasional	98

Genes (30) :ADAMTS2 ADAMTSL2 ATP7A COL1A1 COL1A2 COL2A1 COMP CREBBP DVL1 DVL3 EP300 EXT1 FN1 FZD2 INPP5K MATN3 NEK9 RAB3GAP2 SIL1 SKIC3 SLC2A10 SRCAP TINF2 TONSL TREX1 TRPS1 TRPV4 UFSP2 UNC45A WNT5A

Diseases (29) :ORPHA:1901 ORPHA:198 ORPHA:1899 OMIM:608805 OMIM:150600 ORPHA:93315 OMIM:132400 ORPHA:93308 ORPHA:353281 ORPHA:353277 ORPHA:3107 ORPHA:353284 ORPHA:502 ORPHA:559 ORPHA:93311 OMIM:614262 OMIM:212720 OMIM:222470 ORPHA:3342 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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