{
    "disease_id": "DOID:0081263",
    "recommended_name": {
        "id": "DOID:0081263",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081263",
        "name": "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities",
        "description": "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0081263",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081263",
            "name": "NEDMCR syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0060664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060664",
            "name": "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0060664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060664",
            "name": "neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0060664",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060664",
            "name": "NEDMCR",
            "description": ""
        },
        {
            "id": "MIM:617913",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617913",
            "name": "Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities",
            "description": "Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081263"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081263",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081263",
            "categories": []
        },
        {
            "id": "MONDO:0060664",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060664",
            "categories": []
        },
        {
            "id": "MIM:617913",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617913",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P57678-1",
            "uniprot_ac": "P57678",
            "uniprot_id": "GEMI4_HUMAN",
            "refseq_ac": "NP_056536",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gem-associated protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Component of gems 4",
                    "type": "synonym"
                },
                {
                    "name": "Gemin-4",
                    "type": "synonym"
                },
                {
                    "name": "HCC-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "component of gems 4",
                    "type": "synonym"
                },
                {
                    "name": "gem-associated protein 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "gemin-4",
                    "type": "synonym"
                },
                {
                    "name": "p97",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GEMIN4",
                    "type": "recommended"
                },
                {
                    "name": "GEMIN4",
                    "type": "synonym"
                },
                {
                    "name": "HC56",
                    "type": "synonym"
                },
                {
                    "name": "HCAP1",
                    "type": "synonym"
                },
                {
                    "name": "HHRF-1",
                    "type": "synonym"
                },
                {
                    "name": "NEDMCR",
                    "type": "synonym"
                },
                {
                    "name": "p97",
                    "type": "synonym"
                }
            ],
            "record_id": "P57678-1",
            "evidence": [
                {
                    "id": "617913",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617913"
                },
                {
                    "id": "0081263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081263"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZKZ5-1",
            "uniprot_ac": "A0A8I5ZKZ5",
            "uniprot_id": "A0A8I5ZKZ5_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gem (nuclear organelle) associated protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gemin4",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZKZ5-1",
            "evidence": [
                {
                    "id": "0081263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081263"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4N9-1",
            "uniprot_ac": "Q9W4N9",
            "uniprot_id": "GEM4A_DROME",
            "refseq_ac": "NP_001284848",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gem-associated protein 4a",
                    "type": "recommended"
                },
                {
                    "name": "CG2941-PB",
                    "type": "synonym"
                },
                {
                    "name": "Gemin4a",
                    "type": "synonym"
                },
                {
                    "name": "Glos-PB",
                    "type": "synonym"
                },
                {
                    "name": "Protein Gaulos",
                    "type": "synonym"
                },
                {
                    "name": "gaulos, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glos",
                    "type": "recommended"
                },
                {
                    "name": "CG2941",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2941",
                    "type": "synonym"
                },
                {
                    "name": "GEMIN4",
                    "type": "synonym"
                },
                {
                    "name": "Gem4a",
                    "type": "synonym"
                },
                {
                    "name": "Gem4",
                    "type": "synonym"
                },
                {
                    "name": "Gemin4",
                    "type": "synonym"
                },
                {
                    "name": "Glos",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4N9-1",
            "evidence": [
                {
                    "id": "0081263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081263"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081263"
}