{ "disease_id": "DOID:0060801", "recommended_name": { "id": "DOID:0060801", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060801", "name": "MEHMO syndrome", "description": "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": [ { "id": "DOID:0060801", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060801", "name": "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome", "description": "" }, { "id": "DOID:0060801", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060801", "name": "MRXS20", "description": "" }, { "id": "DOID:0060801", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060801", "name": "MRXS25", "description": "" }, { "id": "DOID:0060801", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060801", "name": "syndromic X-linked mental retardation 20", "description": "" }, { "id": "DOID:0060801", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060801", "name": "syndromic X-linked mental retardation 25", "description": "" }, { "id": "DOID:0060801", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060801", "name": "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity", "description": "" }, { "id": "MONDO:0010258", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010258", "name": "MEHMO syndrome", "description": "MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. 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"eIF2-gamma", "type": "synonym" }, { "name": "eIF2G", "type": "synonym" }, { "name": "eIF2gamma", "type": "synonym" }, { "name": "eIF2g", "type": "synonym" } ], "record_id": "Q24208-1", "evidence": [ { "id": "0060801", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060801" } ] }, { "uniprot_canonical_ac": "Q2VIR3-1", "uniprot_ac": "Q2VIR3", "uniprot_id": "IF2GL_HUMAN", "refseq_ac": "NP_001344660", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Eukaryotic translation initiation factor 2 subunit 3B", "type": "recommended" }, { "name": "3.6.5.3", "type": "synonym" }, { "name": "Eukaryotic translation initiation factor 2 subunit gamma A", "type": "synonym" }, { "name": "eIF-2-gamma A", "type": "synonym" }, { "name": "eIF-2-gamma2", "type": "synonym" }, { "name": "eIF-2gA", "type": "synonym" }, { "name": "eukaryotic translation initiation factor 2 subunit 3B isoform 2", "type": "synonym" }, { "name": "eukaryotic translation initiation factor 2 subunit 3B", "type": "synonym" }, { "name": "eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa", "type": "synonym" }, { "name": "putative eukaryotic translation initiation factor 2 subunit 3-like protein", "type": "synonym" } ], "gene_names": [ { "name": "EIF2S3B", "type": "recommended" }, { "name": "EIF2S3B", "type": "synonym" }, { "name": "EIF2S3L", "type": "synonym" }, { "name": "eIF-2gA", "type": "synonym" }, { "name": "eIF2gA", "type": "synonym" } ], "record_id": "Q2VIR3-1", "evidence": [ { "id": "0060801", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060801" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0060801" }