Craniotubular Dysplasia Ikegawa Type
Disease ID: disease_node_19045
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| Dbxref | MIM:619727 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080032 |
| Data Source | DOID |
| Synonyms | CTDI |
| Doid Label | craniotubular dysplasia Ikegawa type |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19045 |
| Doid Id | DOID_0112340 |
| Label | Craniotubular Dysplasia Ikegawa Type |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)