{
    "disease_id": "DOID:0080628",
    "recommended_name": {
        "id": "DOID:0080628",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080628",
        "name": "alopecia-mental retardation syndrome 1",
        "description": "An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27."
    },
    "synonyms": [
        {
            "id": "MONDO:0021035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021035",
            "name": "alopecia-intellectual disability syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0021035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021035",
            "name": "APMR",
            "description": ""
        },
        {
            "id": "MONDO:0021035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021035",
            "name": "APMR1",
            "description": ""
        },
        {
            "id": "MONDO:0021035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021035",
            "name": "alopecia-intellectual disability syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0021035",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021035",
            "name": "alopecia-mental retardation syndrome 1",
            "description": ""
        },
        {
            "id": "MIM:203650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/203650",
            "name": "Alopecia-intellectual disability syndrome 1",
            "description": "Alopecia-intellectual disability syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080628"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080628",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080628",
            "categories": []
        },
        {
            "id": "MONDO:0021035",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021035",
            "categories": []
        },
        {
            "id": "MIM:203650",
            "database": "MIM",
            "url": "https://www.omim.org/entry/203650",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1PKY8-1",
            "uniprot_ac": "A0A8M1PKY8",
            "uniprot_id": "A0A8M1PKY8_DANRE",
            "refseq_ac": "NP_997787",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-2-HS-glycoprotein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-HS-glycoprotein 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ahsg1",
                    "type": "recommended"
                },
                {
                    "name": "ahsg1",
                    "type": "synonym"
                },
                {
                    "name": "ahsg",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb63g02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103687",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1PKY8-1",
            "evidence": [
                {
                    "id": "0080628",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080628"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29699-1",
            "uniprot_ac": "P29699",
            "uniprot_id": "FETUA_MOUSE",
            "refseq_ac": "NP_038493",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-2-HS-glycoprotein",
                    "type": "recommended"
                },
                {
                    "name": "Countertrypin",
                    "type": "synonym"
                },
                {
                    "name": "Fetuin-A",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-HS-glycoprotein isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "countertrypin",
                    "type": "synonym"
                },
                {
                    "name": "fetuin-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ahsg",
                    "type": "recommended"
                },
                {
                    "name": "Ahsg",
                    "type": "synonym"
                },
                {
                    "name": "Fetua",
                    "type": "synonym"
                }
            ],
            "record_id": "P29699-1",
            "evidence": [
                {
                    "id": "0080628",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080628"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02765-1",
            "uniprot_ac": "P02765",
            "uniprot_id": "FETUA_HUMAN",
            "refseq_ac": "NP_001613",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-2-HS-glycoprotein",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-2-Z-globulin",
                    "type": "synonym"
                },
                {
                    "name": "Ba-alpha-2-glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Fetuin-A",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-HS-glycoprotein isoform 2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-Z-globulin",
                    "type": "synonym"
                },
                {
                    "name": "ba-alpha-2-glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "fetuin-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AHSG",
                    "type": "recommended"
                },
                {
                    "name": "A2HS",
                    "type": "synonym"
                },
                {
                    "name": "AHSG",
                    "type": "synonym"
                },
                {
                    "name": "AHS",
                    "type": "synonym"
                },
                {
                    "name": "APMR1",
                    "type": "synonym"
                },
                {
                    "name": "FETUA",
                    "type": "synonym"
                },
                {
                    "name": "HSGA",
                    "type": "synonym"
                },
                {
                    "name": "PRO2743",
                    "type": "synonym"
                }
            ],
            "record_id": "P02765-1",
            "evidence": [
                {
                    "id": "203650",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/203650"
                },
                {
                    "id": "0080628",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080628"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24090-1",
            "uniprot_ac": "P24090",
            "uniprot_id": "FETUA_RAT",
            "refseq_ac": "NP_037030",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-2-HS-glycoprotein",
                    "type": "recommended"
                },
                {
                    "name": "59 kDa bone sialic acid-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "BSP",
                    "type": "synonym"
                },
                {
                    "name": "Fetuin-A",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein PP63",
                    "type": "synonym"
                },
                {
                    "name": "alpha 2 HS-glycoprotein alpha 2 (fetuin)",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2-HS-glycoprotein precursor",
                    "type": "synonym"
                },
                {
                    "name": "fetuin-A",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein PP63",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylated N-glycoprotein pp63",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ahsg",
                    "type": "recommended"
                },
                {
                    "name": "AABR07034632.1",
                    "type": "synonym"
                },
                {
                    "name": "Aa2-066",
                    "type": "synonym"
                },
                {
                    "name": "Ahsg",
                    "type": "synonym"
                },
                {
                    "name": "BSP",
                    "type": "synonym"
                },
                {
                    "name": "Fetua",
                    "type": "synonym"
                },
                {
                    "name": "pp63",
                    "type": "synonym"
                }
            ],
            "record_id": "P24090-1",
            "evidence": [
                {
                    "id": "0080628",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080628"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080628"
}