Human Phenotype Ontology 
Grandparent Node:
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Abnormal joint morphology (HP:0001367)help
Grandparent Node:
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Juvenile aseptic necrosis (HP:0100323)help
Parent Node:
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Osteochondrosis (HP:0040188)help
..Starting node
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Osteochondritis dissecans (HP:0010886)help
Term ID: 10886
Name: Osteochondritis dissecans
Synonym: Osteochondrosis dissecans
Definition: A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.
Comments:
Reference: HP:0010886
Genes and Diseases:
 
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 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010886HP:0010886Osteochondritis dissecans0ACAN CL E G H176319OMIM:165800Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans.34
HP:0010886HP:0010886Osteochondritis dissecans0COL9A2 CL E G H12982218OMIM:600204Epiphyseal dysplasia, multiple, 2110
HP:0010886HP:0010886Osteochondritis dissecans0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0010886HP:0010886Osteochondritis dissecans0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0010886HP:0010886Osteochondritis dissecans0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040283 - Occasional260
HP:0010886HP:0010886Osteochondritis dissecans0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260


Genes (5) :ACAN COL9A2 LMX1B ORC1 SMAD3

Diseases (6) :OMIM:165800 OMIM:600204 ORPHA:2614 OMIM:224690 ORPHA:284984 OMIM:613795
 

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