OBO ID: DOID:0080801
Term Name: autosomal dominant craniometaphyseal dysplasia Search Ontology:
Synonyms:
Definition: A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. https://pubmed.ncbi.nlm.nih.gov/9382103/
References:
Ontology: Human Disease   ( DOID:0080801 )
Relationships
is a type of:
OTHER autosomal dominant craniometaphyseal dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ANKH Craniometaphyseal dysplasia 123000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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