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 phalangeal joint morphology of the hand (HP:0006261)

Grandparent Node:
Enlarged joints (HP:0003037)

Parent Node:
Enlarged interphalangeal joints (HP:0006247)

..Starting node
..Enlarged proximal interphalangeal joints (HP:0006185)

Term ID:

6185

Name:

Enlarged proximal interphalangeal joints

Synonym:

Enlarged innermost hinge joint

Definition:

Comments:

Reference:

HP:0006185

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bouchard's node (HP:0012314)

Heberden's node (HP:0012313)

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:0006185	HP:0006185	Enlarged proximal interphalangeal joints	0	HOXD13 CL E G H	3239	5136	OMIM:186300	Syndactyly, type V	.	25
HP:0006185	HP:0006185	Enlarged proximal interphalangeal joints	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34

Genes (2) :HOXD13 KAT6A

Diseases (2) :OMIM:186300 OMIM:616268

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