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:
Camptodactyly of finger (HP:0100490)

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

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

Term ID:

9276

Name:

Contracture of the proximal interphalangeal joint of the 4th finger

Synonym:

4th finger camptodactyly; Camptodactyly of the 4th finger; Camptodactyly of the ring finger

Definition:

Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.

Comments:

Reference:

HP:0009276

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

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

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:0009276	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS	49
HP:0009276	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	2
HP:0009276	HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	1

Genes (3) :ASXL3 KDM5B TLK2

Diseases (3) :OMIM:615485 OMIM:618109 OMIM:618050

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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