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Metadata
ID	DOID:0112340
Name	craniotubular dysplasia Ikegawa type
Definition	A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM53 gene on chromosome 1p34.1. https://pubmed.ncbi.nlm.nih.gov/33824347/
Xrefs	MIM:619727
Synonyms	CTDI [EXACT]
Parent Relationships	is_a craniodiaphyseal dysplasia is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance