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
..Metacarpophalangeal joint contracture (HP:0006070)

Term ID:

6070

Name:

Metacarpophalangeal joint contracture

Synonym:

Metacarpal/phalangeal joint contractures

Definition:

A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.

Comments:

Reference:

HP:0006070

Genes and Diseases:

Child Nodes:

Sister Nodes:

Metacarpophalangeal joint hyperextensibility (HP:0006099)

Metacarpophalangeal synostosis (HP:0005880)

Subluxation of metacarpal phalangeal joints (HP:0004294)

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:0006070	HP:0006070	Metacarpophalangeal joint contracture	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0006070	HP:0006070	Metacarpophalangeal joint contracture	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0006070	HP:0006070	Metacarpophalangeal joint contracture	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0006070	HP:0006070	Metacarpophalangeal joint contracture	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0006070	HP:0006070	Metacarpophalangeal joint contracture	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional

Genes (5) :ASXL1 FLNA MAP3K7 MYL11 RNF13

Diseases (4) :ORPHA:97297 ORPHA:1826 OMIM:619110 ORPHA:544503

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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