{ "disease_id": "DOID:0080552", "recommended_name": { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation Ia", "description": "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080552", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "DOID:0080552", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080552", "name": "congenital disorder of glycosylation 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults." }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG-IA", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "CDG1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-congenital disorder of glycosylation", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate deficient glycoprotein syndrome type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type 1a", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "phosphomannomutase 2 deficiency", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "Jaeken syndrome", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "PMM2-CDG (CDG-Ia)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome, type Ia", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "carbohydrate-deficient glycoprotein syndrome, type Ia, formerly", "description": "" }, { "id": "MONDO:0008907", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "name": "congenital disorder of glycosylation, type Ia", "description": "" }, { "id": "MIM:212065", "resource": "MIM", "url": "https://www.omim.org/entry/212065", "name": "Congenital disorder of glycosylation 1A", "description": "Congenital disorder of glycosylation 1A" } ], "children": [], "id_list": [ "DOID:0080552" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0080552", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080552", "categories": [] }, { "id": "MONDO:0008907", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008907", "categories": [] }, { "id": "MIM:212065", "database": "MIM", "url": "https://www.omim.org/entry/212065", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q9VTZ6-1", "uniprot_ac": "Q9VTZ6", "uniprot_id": "PMM_DROME", "refseq_ac": "NP_648589", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Phosphomannomutase", "resource": "UniProtKB", "type": "recommended" }, { "name": "5.4.2.8", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG10688-PA; Pmm2-PA; phosphomannomutase-2", "resource": "RefSeq", "type": "synonym" }, { "name": "Phosphomannomutase 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Phosphomannomutase type 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "phosphomannomutase type 2", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Pmm2", "resource": "UniProtKB", "type": "recommended" }, { "name": "33589256; CG10688; Dmel\\CG10688; pmm2", "resource": "RefSeq", "type": "synonym" }, { "name": "CG10688", "resource": "UniProtKB", "type": "synonym" }, { "name": "Pmm2", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0080552", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "Q9VDD5-1", "uniprot_ac": "Q9VDD5", "uniprot_id": "Q9VDD5_DROME", "refseq_ac": "NP_650951", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG10824-PA; cDIP-PA; common DIP", "resource": "RefSeq", "type": "synonym" }, { "name": "Common Dpr-interacting protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "GH17632p", "resource": "UniProtKB", "type": "synonym" }, { "name": "common Dpr-interacting protein", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "cDIP", "resource": "UniProtKB", "type": "recommended" }, { "name": "10824; CG10824; CT11359; DIPc; Dmel\\CG10824", "resource": "RefSeq", "type": "synonym" }, { "name": "10824", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG10824", "resource": "UniProtKB", "type": "synonym" }, { "name": "CT11359", "resource": "UniProtKB", "type": "synonym" }, { "name": "DIPc", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG10824", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG10824", "resource": "UniProtKB", "type": "synonym" }, { "name": "cDIP", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0080552", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "Q9VPF0-1", "uniprot_ac": "Q9VPF0", "uniprot_id": "ATK_DROME", "refseq_ac": "NP_001262113", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Protein artichoke", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG5195-PB; atk-PB; artichoke", "resource": "RefSeq", "type": "synonym" }, { "name": "artichoke, isoform B", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "atk", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG5195; CT16609; Dmel\\CG5195; tartan/capricious-like", "resource": "RefSeq", "type": "synonym" }, { "name": "CG5195", "resource": "UniProtKB", "type": "synonym" }, { "name": "atk", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0080552", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "Q0KHN6-1", "uniprot_ac": "Q0KHN6", "uniprot_id": "Q0KHN6_DROME", "refseq_ac": "NP_001036303", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG42346-PD", "resource": "RefSeq", "type": "synonym" }, { "name": "Uncharacterized protein, isoform C", "resource": "UniProtKB", "type": "synonym" }, { "name": "Uncharacterized protein, isoform D", "resource": "UniProtKB", "type": "synonym" }, { "name": "uncharacterized protein, isoform D", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "CG40500", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG40500-PA", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG40500; CG40500-PA; CG41105; Dmel\\CG42346", "resource": "RefSeq", "type": "synonym" }, { "name": "CG41105", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG42346", "resource": "RefSeq", "type": "synonym" }, { "name": "CG42346", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG42346", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG42346", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0080552", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "M9MSI4-1", "uniprot_ac": "M9MSI4", "uniprot_id": "M9MSI4_DROME", "refseq_ac": "NP_001188805", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG18095-PB; gp150-like", "resource": "RefSeq", "type": "synonym" }, { "name": "Uncharacterized protein, isoform B", "resource": "UniProtKB", "type": "synonym" }, { "name": "uncharacterized protein, isoform B", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "DS05899.7", "resource": "UniProtKB", "type": "recommended" }, { "name": "BG:DS05899.7; Dmel\\CG18095; DS05899.7", "resource": "RefSeq", "type": "synonym" }, { "name": "BG:DS05899.7", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG18095", "resource": "RefSeq", "type": "synonym" }, { "name": "CG18095", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG18095", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG18095", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0080552", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "A1Z9N6-1", "uniprot_ac": "A1Z9N6", "uniprot_id": "A1Z9N6_DROME", "refseq_ac": "NP_001286416", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Acid labile subunit", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG8561-PB; 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insulin-like growth factor I", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Igf1", "resource": "UniProtKB", "type": "recommended" }, { "name": "C730016P09Rik; Igf-1; Igf-I", "resource": "RefSeq", "type": "synonym" }, { "name": "Igf-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Igf1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0080552", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080552" } ] }, { "uniprot_canonical_ac": "P70389-1", "uniprot_ac": "P70389", "uniprot_id": "ALS_MOUSE", "refseq_ac": "NP_032366", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Insulin-like growth factor-binding protein complex acid labile subunit", "resource": "UniProtKB", "type": "recommended" }, { "name": "ALS", "resource": "UniProtKB", "type": "synonym" }, { "name": "insulin-like growth factor-binding protein complex acid labile subunit isoform 1 precursor", "resource": "RefSeq", "type": "synonym" }, { "name": "insulin-like growth factor-binding protein complex acid labile subunit", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Igfals", "resource": "UniProtKB", "type": "recommended" }, { "name": "Albs; 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