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 skeletal morphology (HP:0011842)

Parent Node:
Abnormal cartilage morphology (HP:0002763)

..Starting node
..Cartilage destruction (HP:0100773)

Term ID:

100773

Name:

Cartilage destruction

Synonym:

Cartilage destruction

Definition:

Comments:

Reference:

HP:0100773

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal cartilage collagen (HP:0008271)

Abnormal cartilage matrix (HP:0008178)

Calcification of cartilage (HP:0100593)

Chondritis (HP:0100662)

Multiple enchondromatosis (HP:0005701)

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:0100773	HP:0100773	Cartilage destruction	0	COL2A1 CL E G H	1280	2200	ORPHA:2380	Legg-Calvé-Perthes disease	HP:0040281 - Very frequent	284
HP:0100773	HP:0100773	Cartilage destruction	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040283 - Occasional	303
HP:0100773	HP:0100773	Cartilage destruction	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040282 - Frequent	77
HP:0100773	HP:0100773	Cartilage destruction	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040281 - Very frequent	4

Genes (4) :COL2A1 F8 HGD HLA-B

Diseases (4) :ORPHA:2380 ORPHA:169805 ORPHA:56 ORPHA:29207

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