Search Ontology:
Human Disease

hypochondrogenesis

Term ID
DOID:0080044
Synonyms
Definition
An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. (3)
References
Ontology
Human Disease   ( DOID:0080044 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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