Visualize Submit Comment

Metadata
ID	DOID:0080962
Name	anauxetic dysplasia 2
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/
Xrefs	MIM:617396
Subsets	DO_rare_slim
Parent Relationships	is_a anauxetic dysplasia is_a autosomal recessive disease