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 4th finger morphology (HP:0004188)

Grandparent Node:
Flexion contracture of finger (HP:0012785)

Parent Node:
Contracture of the distal interphalangeal joint of the fingers (HP:0009697)

Parent Node:
Joint contracture of the 4th finger (HP:0009274)

..Starting node
..Contracture of the distal interphalangeal joint of the 4th finger (HP:0009275)

Term ID:

9275

Name:

Contracture of the distal interphalangeal joint of the 4th finger

Synonym:

Definition:

Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue.

Comments:

Reference:

HP:0009275

Genes and Diseases:

Child Nodes:

Sister Nodes:

Contracture of the metacarpophalangeal joint of the 4th finger (HP:0009277)

Contracture of the proximal interphalangeal joint of the 4th finger (HP:0009276)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009275	HP:0009275	Contracture of the distal interphalangeal joint of the 4th finger	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	9

Genes (1) :SIN3A

Diseases (1) :OMIM:613406

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