OBO ID: DOID:0112340 |
Term Name: | craniotubular dysplasia Ikegawa type | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0112340 ) |
OTHER craniotubular dysplasia Ikegawa type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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