Human Phenotype Ontology

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:
Abnormality of femoral epiphysis (HP:0006499)

Grandparent Node:
Irregular epiphyses (HP:0010582)

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

Parent Node:
Irregular femoral epiphysis (HP:0006361)

..Starting node
..Irregular capital femoral epiphysis (HP:0005041)

Term ID:

5041

Name:

Irregular capital femoral epiphysis

Synonym:

Irregular capital femoral epiphyses; Irregular end part of innermost thighbone; Irregular proximal femoral epiphyses

Definition:

Irregular surface of the normally relatively smooth capital femoral epiphysis.

Comments:

Reference:

HP:0005041

Genes and Diseases:

Child Nodes:

Sister Nodes:

Irregular distal femoral epiphysis (HP:0006407)

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:0005041	HP:0005041	Irregular capital femoral epiphysis	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0005041	HP:0005041	Irregular capital femoral epiphysis	0	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0005041	HP:0005041	Irregular capital femoral epiphysis	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0005041	HP:0005041	Irregular capital femoral epiphysis	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0005041	HP:0005041	Irregular capital femoral epiphysis	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type		214
HP:0005041	HP:0005041	Irregular capital femoral epiphysis	0	UFSP2 CL E G H	55325	25640	OMIM:142669	Hip dysplasia, Beukes type	.	2

Genes (6) :ADAMTSL2 COL9A1 PEX5 RNU4ATAC TRPV4 UFSP2

Diseases (6) :OMIM:231050 OMIM:614134 OMIM:616716 ORPHA:353298 OMIM:184252 OMIM:142669

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