{
    "disease_id": "DOID:0051035",
    "recommended_name": {
        "id": "DOID:0051035",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051035",
        "name": "primary autosomal recessive microcephaly 24",
        "description": "A primary autosomal recessive microcephaly that has_material_basis_in homozygous mutation in the NUP37 gene on chromosome 12q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0032583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032583",
            "name": "microcephaly 24, primary, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0032583",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032583",
            "name": "MCPH24",
            "description": ""
        },
        {
            "id": "MIM:618179",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618179",
            "name": "Microcephaly 24, primary, autosomal recessive",
            "description": "Microcephaly 24, primary, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051035"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051035",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051035",
            "categories": []
        },
        {
            "id": "MONDO:0032583",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032583",
            "categories": []
        },
        {
            "id": "MIM:618179",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618179",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CWU9-1",
            "uniprot_ac": "Q9CWU9",
            "uniprot_id": "NUP37_MOUSE",
            "refseq_ac": "NP_081467",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoporin Nup37",
                    "type": "recommended"
                },
                {
                    "name": "Nup107-160 subcomplex subunit Nup37",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup37",
                    "type": "synonym"
                },
                {
                    "name": "nup107-160 subcomplex subunit Nup37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup37",
                    "type": "recommended"
                },
                {
                    "name": "2410003L22Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810039M17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Nup37",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CWU9-1",
            "evidence": [
                {
                    "id": "0051035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051035"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NFH4-1",
            "uniprot_ac": "Q8NFH4",
            "uniprot_id": "NUP37_HUMAN",
            "refseq_ac": "NP_076962",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoporin Nup37",
                    "type": "recommended"
                },
                {
                    "name": "Nup107-160 subcomplex subunit Nup37",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 37kDa",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup37",
                    "type": "synonym"
                },
                {
                    "name": "nup107-160 subcomplex subunit Nup37",
                    "type": "synonym"
                },
                {
                    "name": "p37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUP37",
                    "type": "recommended"
                },
                {
                    "name": "MCPH24",
                    "type": "synonym"
                },
                {
                    "name": "NUP37",
                    "type": "synonym"
                },
                {
                    "name": "p37",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NFH4-1",
            "evidence": [
                {
                    "id": "618179",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618179"
                },
                {
                    "id": "0051035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051035"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V6M8-1",
            "uniprot_ac": "G3V6M8",
            "uniprot_id": "G3V6M8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoporin Nup37",
                    "type": "recommended"
                },
                {
                    "name": "Nup107-160 subcomplex subunit Nup37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup37",
                    "type": "recommended"
                }
            ],
            "record_id": "G3V6M8-1",
            "evidence": [
                {
                    "id": "0051035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051035"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VBU8-1",
            "uniprot_ac": "Q9VBU8",
            "uniprot_id": "NUP37_DROME",
            "refseq_ac": "NP_001262950",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoporin Nup37",
                    "type": "recommended"
                },
                {
                    "name": "37 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "CG11875-PB",
                    "type": "synonym"
                },
                {
                    "name": "Nup37-PB",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 37kD, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup37",
                    "type": "recommended"
                },
                {
                    "name": "CG11875",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11875",
                    "type": "synonym"
                },
                {
                    "name": "Nup37",
                    "type": "synonym"
                },
                {
                    "name": "nup37",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VBU8-1",
            "evidence": [
                {
                    "id": "0051035",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051035"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051035"
}