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 3rd finger morphology (HP:0004150)

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

Parent Node:
Camptodactyly of finger (HP:0100490)

Parent Node:
Joint contracture of the 3rd finger (HP:0009319)

..Starting node
..Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)

Term ID:

9471

Name:

Contracture of the proximal interphalangeal joint of the 3rd finger

Synonym:

Camptodactyly of the 3rd finger; Camptodactyly of the third finger

Definition:

Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.

Comments:

Reference:

HP:0009471

Genes and Diseases:

Child Nodes:

Sister Nodes:

Contracture of the distal interphalangeal joint of the 3rd finger (HP:0009469)

Contracture of the metacarpophalangeal joint of the 3rd finger (HP:0009470)

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:0009471	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0009471	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0009471	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional	166
HP:0009471	HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135

Genes (4) :MED25 PLOD3 SLC26A2 SMC1A

Diseases (4) :ORPHA:464738 OMIM:612394 ORPHA:93307 OMIM:301044

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