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Disease Ontology Browser
craniotubular dysplasia Ikegawa type (DOID:0112340)
Alliance: disease page
Synonyms: 'CTDI'
Alt IDs: OMIM:619727
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory