Human Phenotype Ontology 
Grandparent Node:
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Abnormal skeletal morphology (HP:0011842)help
Parent Node:
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Abnormal cartilage morphology (HP:0002763)help
..Starting node
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Abnormal cartilage collagen (HP:0008271)help
Term ID: 8271
Name: Abnormal cartilage collagen
Synonym: Abnormal hyaline collagen; Abnormal type II collagen
Definition: Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix.
Comments:
Reference: HP:0008271
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal cartilage matrix (HP:0008178) help
..expandCalcification of cartilage (HP:0100593) help
..expandCartilage destruction (HP:0100773) help
..expandChondritis (HP:0100662) help
..expandMultiple enchondromatosis (HP:0005701) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008271HP:0008271Abnormal cartilage collagen0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia.284
HP:0008271HP:0008271Abnormal cartilage collagen0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasiaHP:0040280 - Obligate284


Genes (1) :COL2A1

Diseases (2) :OMIM:156550 ORPHA:485
 

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