FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term craniotubular dysplasia Ikegawa type ID (Ontology) DOID:0112340 (Human Disease)
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.
Also Known As "CTDI"
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DO.org
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 Genes
 craniotubular dysplasia Ikegawa type       2
 for disease ribbon | craniotubular dysplasia Ikegawa type       2
 model of | craniotubular dysplasia Ikegawa type       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
osteosclerosis                   |
 |__craniodiaphyseal dysplasia___|
                                 craniotubular dysplasia Ikegawa type  2 rec.
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Is a autosomal recessive disease
craniodiaphyseal dysplasia
Part of
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Synonyms
  • "CTDI" EXACT OMO:0003012
Secondary IDs
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MIM:619727