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Metadata
ID DOID:0050640
Name anauxetic dysplasia 1
Definition An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.
https://pubmed.ncbi.nlm.nih.gov/16252239/, https://www.ncbi.nlm.nih.gov/books/NBK84550/
Xrefs

OMIM:607095

Subsets

DO_rare_slim

Synonyms

spondylometaepiphyseal dysplasia, Menger type [EXACT]

Parent Relationships

is_a anauxetic dysplasia

is_a autosomal recessive disease

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