Search Ontology:
Human Disease

craniotubular dysplasia Ikegawa type

Term ID
DOID:0112340
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 the TMEM53 gene on chromosome 1p34.1. https://pubmed.ncbi.nlm.nih.gov/33824347/
References
Ontology
Human Disease   ( DOID:0112340 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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