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Metadata
ID DOID:0112285
Name autosomal dominant spondyloepiphyseal dysplasia tarda
Definition A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13.
https://pubmed.ncbi.nlm.nih.gov/1353665/, https://pubmed.ncbi.nlm.nih.gov/3213464/
Xrefs

GARD:10624

MIM:184100

Subsets

DO_rare_slim

Parent Relationships

is_a spondyloepiphyseal dysplasia tarda

is_a autosomal dominant disease

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