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DOID:0060801 - MEHMO syndrome
Disease Ontology Definition:A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22.
Synonyms: mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity, MRXS20, MRXS25, syndromic X-linked mental retardation 20, syndromic X-linked mental retardation 25, X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome
Xenbase Genes
:
eif2s3
| MONDO:0010258 - MEHMO syndrome |
| MIM:300148 - MEHMO SYNDROME; MEHMO |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee