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:
Abnormal metacarpal epiphysis morphology (HP:0005913)

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

..Starting node
..Cone-shaped metacarpal epiphyses (HP:0006059)

Term ID:

6059

Name:

Cone-shaped metacarpal epiphyses

Synonym:

Cone-shaped end part of long bone; Metacarpal cone-shaped epiphyses

Definition:

A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.

Comments:

Reference:

HP:0006059

Genes and Diseases:

Child Nodes:

........

Cone-shaped epiphysis of the 1st metacarpal (HP:0010017)

Sister Nodes:

Cone-shaped capital femoral epiphysis (HP:0008789)

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)

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:0006059	HP:0006059	Cone-shaped metacarpal epiphyses	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0006059	HP:0006059	Cone-shaped metacarpal epiphyses	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0006059	HP:0006059	Cone-shaped metacarpal epiphyses	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0006059	HP:0006059	Cone-shaped metacarpal epiphyses	0	IHH CL E G H	3549	5956	ORPHA:63446	Acrocapitofemoral dysplasia	HP:0040282 - Frequent	44
HP:0006059	HP:0010017	Cone-shaped epiphysis of the 1st metacarpal	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44

Genes (3) :BGN GPX4 IHH

Diseases (4) :OMIM:300106 OMIM:250220 OMIM:607778 ORPHA:63446

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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