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 epiphysis morphology (HP:0005930)

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

Parent Node:
Cone-shaped epiphysis (HP:0010579)

..Starting node
..Cone-shaped capital femoral epiphysis (HP:0008789)

Term ID:

8789

Name:

Cone-shaped capital femoral epiphysis

Synonym:

Cone-shaped end part of innermost thighbone

Definition:

A cone-shaped deformity of the proximal epiphysis of the femur.

Comments:

Reference:

HP:0008789

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cone-shaped distal radial epiphysis (HP:0004000)

Cone-shaped epiphyses fused within their metaphyses (HP:0005066)

Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)

Cone-shaped epiphyses of the toes (HP:0010164)

Cone-shaped metacarpal epiphyses (HP:0006059)

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:0008789	HP:0008789	Cone-shaped capital femoral epiphysis	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0008789	HP:0008789	Cone-shaped capital femoral epiphysis	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44

Genes (2) :AIFM1 IHH

Diseases (2) :OMIM:300232 OMIM:607778

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