OBO ID: DOID:0080056
Term Name: achondrogenesis type II Search Ontology:
Synonyms:
Definition: An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. (3)
References:
Ontology: Human Disease   ( DOID:0080056 )
Relationships
is a type of:
OTHER achondrogenesis type II PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL2A1 Achondrogenesis, type II or hypochondrogenesis 200610
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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