OBO ID: DOID:0112340
Term Name: craniotubular dysplasia Ikegawa type Search Ontology:
Synonyms:
  • CTDI
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 TMEM53 on chromosome 1p34.1. https://pubmed.ncbi.nlm.nih.gov/33824347/
References:
Ontology: Human Disease   (DOID:0112340)
OTHER craniotubular dysplasia Ikegawa type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMEM53 Craniotubular dysplasia, Ikegawa type 619727
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None