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temtamy syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.
Uniprot Description A mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus.
Mondo Term and Equivalent IDs
MONDO:0009033:  temtamy syndrome
DOID:0111621: 
GARD:0005688: 
MESH:C536959: 
NCIT:C148371: 
Orphanet:1777: 
SCTID:719947004: 
UMLS:C1857512: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found