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:
Abnormality of upper limb epiphysis morphology (HP:0003839)

Grandparent Node:
Fragmented epiphyses (HP:0100168)

Parent Node:
Abnormal metacarpal epiphysis morphology (HP:0005913)

Parent Node:
Fragmented epiphyses of the upper limbs (HP:0003841)

..Starting node
..Fragmentation of the metacarpal epiphyses (HP:0009189)

Term ID:

9189

Name:

Fragmentation of the metacarpal epiphyses

Synonym:

Fragmentation of end part of the long bone of hand

Definition:

Fragmented appearance of the epiphyses of the metacarpals.

Comments:

Reference:

HP:0009189

Genes and Diseases:

Child Nodes:

........

Fragmentation of the epiphysis of the 1st metacarpal (HP:0010019)

Sister Nodes:

Fragmentation of the epiphyses of the phalanges of the hand (HP:0010232)

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:0009189	HP:0009189	Fragmentation of the metacarpal epiphyses	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0009189	HP:0009189	Fragmentation of the metacarpal epiphyses	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	110
HP:0009189	HP:0009189	Fragmentation of the metacarpal epiphyses	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040283 - Occasional	137
HP:0009189	HP:0041191	Fractured epiphysis of third metacarpal bone	1	CL E G H
HP:0009189	HP:0041190	Fractured epiphysis of second metacarpal bone	1	CL E G H
HP:0009189	HP:0041121	Fractured epiphysis of fifth metacarpal bone	1	CL E G H
HP:0009189	HP:0010019	Fragmentation of the epiphysis of the 1st metacarpal	1	CL E G H
HP:0009189	HP:0041192	Fractured epiphysis of fourth metacarpal bone	1	CL E G H
HP:0009189	HP:0041197	Fractured proximal epiphysis of first metacarpal bone	2	CL E G H

Genes (3) :COL9A1 COL9A2 COL9A3

Diseases (1) :ORPHA:166002

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