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 the metacarpal bones (HP:0001163)

Parent Node:
Abnormal metacarpophalangeal joint morphology (HP:0011911)

..Starting node
..Subluxation of metacarpal phalangeal joints (HP:0004294)

Term ID:

4294

Name:

Subluxation of metacarpal phalangeal joints

Synonym:

Partial knuckle dislocation; Subluxation of metacarpophalangeal joints

Definition:

A partial dislocation affecting some or all of the metacarpophalangeal joints.

Comments:

Reference:

HP:0004294

Genes and Diseases:

Child Nodes:

........

Easily subluxated first metacarpophalangeal joints (HP:0005747)

Sister Nodes:

Metacarpophalangeal joint contracture (HP:0006070)

Metacarpophalangeal joint hyperextensibility (HP:0006099)

Metacarpophalangeal synostosis (HP:0005880)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004294	HP:0004294	Subluxation of metacarpal phalangeal joints	0	CL E G H
HP:0004294	HP:0005747	Easily subluxated first metacarpophalangeal joints	1	CL E G H

Genes (0) :

Diseases (0) :

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