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 5th finger morphology (HP:0004207)

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

Parent Node:
Camptodactyly of finger (HP:0100490)

Parent Node:
Joint contracture of the 5th finger (HP:0009183)

..Starting node
..Contracture of the proximal interphalangeal joint of the 5th finger (HP:0009185)

Term ID:

9185

Name:

Contracture of the proximal interphalangeal joint of the 5th finger

Synonym:

Definition:

Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little 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:0009185

Genes and Diseases:

Child Nodes:

Sister Nodes:

Contracture of the distal interphalangeal joint of the 5th finger (HP:0009184)

Contracture of the metacarpophalangeal joint of the 5th finger (HP:0009186)

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:0009185	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0009185	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	0	HOXD13 CL E G H	3239	5136	OMIM:186000	Synpolydactyly 1	.	25
HP:0009185	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0009185	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0009185	HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36

Genes (5) :ARPC4 HOXD13 KDM5B LIFR PIGL

Diseases (5) :OMIM:620141 OMIM:186000 OMIM:618109 OMIM:601559 OMIM:280000

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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