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:
Abnormality of the costochondral junction (HP:0000919)

Parent Node:
Calcification of cartilage (HP:0100593)

..Starting node
..Progressive calcification of costochondral cartilage (HP:0006600)

Term ID:

6600

Name:

Progressive calcification of costochondral cartilage

Synonym:

Definition:

Comments:

Reference:

HP:0006600

Genes and Diseases:

Child Nodes:

Sister Nodes:

Calcification of the auricular cartilage (HP:0005103)

Costal cartilage calcification (HP:0006646)

Stippled chondral calcification (HP:0002764)

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:0006600	HP:0006600	Progressive calcification of costochondral cartilage	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45

Genes (1) :DDR2

Diseases (1) :OMIM:271665

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