{
    "disease_id": "DOID:0081432",
    "recommended_name": {
        "id": "DOID:0081432",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081432",
        "name": "microcephaly-micromelia syndrome",
        "description": "A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder."
    },
    "synonyms": [
        {
            "id": "MONDO:0009619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009619",
            "name": "microcephaly-micromelia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009619",
            "name": "microcephaly-micromelia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009619",
            "name": "MIMIS",
            "description": ""
        },
        {
            "id": "MIM:251230",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251230",
            "name": "Microcephaly-micromelia syndrome",
            "description": "Microcephaly-micromelia syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081432"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081432",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081432",
            "categories": []
        },
        {
            "id": "MONDO:0009619",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009619",
            "categories": []
        },
        {
            "id": "MIM:251230",
            "database": "MIM",
            "url": "https://www.omim.org/entry/251230",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QXP4-1",
            "uniprot_ac": "Q9QXP4",
            "uniprot_id": "DONS_MOUSE",
            "refseq_ac": "NP_068366",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein downstream neighbor of Son",
                    "type": "recommended"
                },
                {
                    "name": "Protein 3SG",
                    "type": "synonym"
                },
                {
                    "name": "protein 3SG",
                    "type": "synonym"
                },
                {
                    "name": "protein downstream neighbor of Son",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Donson",
                    "type": "recommended"
                },
                {
                    "name": "1110025J21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Donson",
                    "type": "synonym"
                },
                {
                    "name": "ORF60",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QXP4-1",
            "evidence": [
                {
                    "id": "0081432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2A4P0-1",
            "uniprot_ac": "A2A4P0",
            "uniprot_id": "DHX8_MOUSE",
            "refseq_ac": "NP_659080",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent RNA helicase DHX8",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase DHX8",
                    "type": "synonym"
                },
                {
                    "name": "DEAD (aspartate-glutamate-alanine-aspartate) box polypeptide 8",
                    "type": "synonym"
                },
                {
                    "name": "DEAH (Asp-Glu-Ala-His) box polypeptide 8",
                    "type": "synonym"
                },
                {
                    "name": "DEAH box protein 8",
                    "type": "synonym"
                },
                {
                    "name": "RNA helicase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhx8",
                    "type": "recommended"
                },
                {
                    "name": "Ddx8",
                    "type": "synonym"
                },
                {
                    "name": "Dhx8",
                    "type": "synonym"
                },
                {
                    "name": "mDEAH6",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4096",
                    "type": "synonym"
                }
            ],
            "record_id": "A2A4P0-1",
            "evidence": [
                {
                    "id": "0081432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NYP3-1",
            "uniprot_ac": "Q9NYP3",
            "uniprot_id": "DONS_HUMAN",
            "refseq_ac": "NP_060083",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein downstream neighbor of Son",
                    "type": "recommended"
                },
                {
                    "name": "B17",
                    "type": "synonym"
                },
                {
                    "name": "downstream neighbor of SON",
                    "type": "synonym"
                },
                {
                    "name": "protein downstream neighbor of Son",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DONSON",
                    "type": "recommended"
                },
                {
                    "name": "B17",
                    "type": "synonym"
                },
                {
                    "name": "C21orf60",
                    "type": "synonym"
                },
                {
                    "name": "DONSON",
                    "type": "synonym"
                },
                {
                    "name": "MGORS10",
                    "type": "synonym"
                },
                {
                    "name": "MIMIS",
                    "type": "synonym"
                },
                {
                    "name": "MISSLA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NYP3-1",
            "evidence": [
                {
                    "id": "251230",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/251230"
                },
                {
                    "id": "0081432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PSU2-1",
            "uniprot_ac": "E9PSU2",
            "uniprot_id": "E9PSU2_RAT",
            "refseq_ac": "NP_001386195",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA replication fork stabilization factor DONSON",
                    "type": "synonym"
                },
                {
                    "name": "downstream neighbor of SON",
                    "type": "synonym"
                },
                {
                    "name": "protein downstream neighbor of Son isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein downstream neighbor of Son",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Donson",
                    "type": "recommended"
                },
                {
                    "name": "Donson",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PSU2-1",
            "evidence": [
                {
                    "id": "0081432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18424-1",
            "uniprot_ac": "P18424",
            "uniprot_id": "LCAT_RAT",
            "refseq_ac": "NP_058720",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylcholine-sterol acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "1-alkyl-2-acetylglycerophosphocholine esterase",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.43",
                    "type": "synonym"
                },
                {
                    "name": "3.1.1.47",
                    "type": "synonym"
                },
                {
                    "name": "Lecithin-cholesterol acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "PAF acetylhydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Phospholipid-cholesterol acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Platelet-activating factor acetylhydrolase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylcholine-sterol acyltransferase precursor",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylcholine-sterol acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-cholesterol acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "platelet-activating factor acetylhydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lcat",
                    "type": "recommended"
                },
                {
                    "name": "Lcat",
                    "type": "synonym"
                }
            ],
            "record_id": "P18424-1",
            "evidence": [
                {
                    "id": "0081432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNA8-1",
            "uniprot_ac": "Q9VNA8",
            "uniprot_id": "DONS_DROME",
            "refseq_ac": "NP_001303424",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein downstream neighbor of son homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG2669-PB",
                    "type": "synonym"
                },
                {
                    "name": "Protein humpty dumpty",
                    "type": "synonym"
                },
                {
                    "name": "female sterile(3)272-9",
                    "type": "synonym"
                },
                {
                    "name": "hd-PB",
                    "type": "synonym"
                },
                {
                    "name": "humpty dumpty, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 82Ff",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 82Fk",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hd",
                    "type": "recommended"
                },
                {
                    "name": "CG2669",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2669",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2669",
                    "type": "synonym"
                },
                {
                    "name": "fs(3)272-9",
                    "type": "synonym"
                },
                {
                    "name": "fs(3)272",
                    "type": "synonym"
                },
                {
                    "name": "hd",
                    "type": "synonym"
                },
                {
                    "name": "l(3)82Ff",
                    "type": "synonym"
                },
                {
                    "name": "l(3)82Fk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VNA8-1",
            "evidence": [
                {
                    "id": "0081432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081432"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081432"
}