Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 joint morphology (HP:0001367)

Grandparent Node:
Abnormal Sharpey fiber morphology (HP:0100685)

Grandparent Node:
Ectopic calcification (HP:0010766)

Parent Node:
Chondrocalcinosis (HP:0000934)

..Starting node
..Polyarticular chondrocalcinosis (HP:0005017)

Term ID:

5017

Name:

Polyarticular chondrocalcinosis

Synonym:

Definition:

Comments:

Reference:

HP:0005017

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0005017	HP:0005017	Polyarticular chondrocalcinosis	0	ANKH CL E G H	56172	15492	OMIM:118600	Chondrocalcinosis 2	.	164

Genes (1) :ANKH

Diseases (1) :OMIM:118600

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