OBO ID: DOID:0080962
Term Name: anauxetic dysplasia 2 Search Ontology:
Synonyms:
Definition: A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22. https://pubmed.ncbi.nlm.nih.gov/28067412/
References:
Ontology: Human Disease   (DOID:0080962)
OTHER anauxetic dysplasia 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POP1 Anauxetic dysplasia 2 617396
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None