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 cartilage morphology (HP:0002763)

Grandparent Node:
Ectopic calcification (HP:0010766)

Parent Node:
Calcific stippling (HP:0002832)

Parent Node:
Calcification of cartilage (HP:0100593)

..Starting node
..Stippled chondral calcification (HP:0002764)

Term ID:

2764

Name:

Stippled chondral calcification

Synonym:

Definition:

Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints).

Comments:

Reference:

HP:0002764

Genes and Diseases:

Child Nodes:

Sister Nodes:

Calcification of the auricular cartilage (HP:0005103)

Costal cartilage calcification (HP:0006646)

Progressive calcification of costochondral cartilage (HP:0006600)

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:0002764	HP:0002764	Stippled chondral calcification	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0002764	HP:0002764	Stippled chondral calcification	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99

Genes (2) :PEX2 PEX5

Diseases (2) :OMIM:614866 OMIM:214110

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