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DOID:0111621 - Temtamy syndrome
Disease Ontology Definition:A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31.
Synonyms: craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome, craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation, dysmorphism, corpus callosum agenesis and colobomas, Temtamy-Shalash syndrome
Xenbase Genes
:
c7h12orf57
| MIM:218340 - TEMTAMY SYNDROME; TEMTYS |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)