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 radial epiphyses (HP:0003999)

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

..Starting node
..Cone-shaped distal radial epiphysis (HP:0004000)

Term ID:

4000

Name:

Cone-shaped distal radial epiphysis

Synonym:

Chevron-shaped distal radial epiphysis

Definition:

The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance.

Comments:

Reference:

HP:0004000

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cone-shaped capital femoral epiphysis (HP:0008789)

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:0004000	HP:0004000	Cone-shaped distal radial epiphysis	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7

Genes (1) :BGN

Diseases (1) :OMIM:300106

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