{
    "disease_id": "DOID:0070055",
    "recommended_name": {
        "id": "DOID:0070055",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070055",
        "name": "Xia-Gibbs Syndrome",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070055",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070055",
            "name": "MRD25",
            "description": ""
        },
        {
            "id": "DOID:0070055",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070055",
            "name": "autosomal dominant mental retardation 25",
            "description": ""
        },
        {
            "id": "MONDO:0014358",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014358",
            "name": "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014358",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014358",
            "name": "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014358",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014358",
            "name": "Xia-Gibbs syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014358",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014358",
            "name": "autosomal dominant intellectual disability 25",
            "description": ""
        },
        {
            "id": "MONDO:0014358",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014358",
            "name": "mental retardation, autosomal dominant 25",
            "description": ""
        },
        {
            "id": "MIM:615829",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615829",
            "name": "Xia-Gibbs syndrome",
            "description": "Xia-Gibbs syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070055"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070055",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070055",
            "categories": []
        },
        {
            "id": "MONDO:0014358",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014358",
            "categories": []
        },
        {
            "id": "MIM:615829",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615829",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PAL7-1",
            "uniprot_ac": "Q6PAL7",
            "uniprot_id": "AHDC1_MOUSE",
            "refseq_ac": "NP_666267",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Gibbin",
                    "type": "recommended"
                },
                {
                    "name": "AT-hook DNA-binding motif-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "a.T hook DNA-binding motif-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Gibbin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Gibbin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ahdc1",
                    "type": "recommended"
                },
                {
                    "name": "Ahdc1",
                    "type": "synonym"
                },
                {
                    "name": "D030015G18Rik",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PAL7-1",
            "evidence": [
                {
                    "id": "0070055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5TGY3-1",
            "uniprot_ac": "Q5TGY3",
            "uniprot_id": "AHDC1_HUMAN",
            "refseq_ac": "NP_001025053",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Gibbin",
                    "type": "recommended"
                },
                {
                    "name": "AT-hook DNA-binding motif-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Gibbin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AHDC1",
                    "type": "recommended"
                },
                {
                    "name": "AHDC1",
                    "type": "synonym"
                },
                {
                    "name": "MRD25",
                    "type": "synonym"
                },
                {
                    "name": "XIGIS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TGY3-1",
            "evidence": [
                {
                    "id": "615829",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615829"
                },
                {
                    "id": "0070055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070055"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A5R3-1",
            "uniprot_ac": "D4A5R3",
            "uniprot_id": "D4A5R3_RAT",
            "refseq_ac": "NP_001128428",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "A.T hook DNA-binding motif-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "AT hook, DNA binding motif, containing 1",
                    "type": "synonym"
                },
                {
                    "name": "AT-hook DNA-binding motif-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Gibbin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ahdc1",
                    "type": "recommended"
                },
                {
                    "name": "Ahdc1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310031",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A5R3-1",
            "evidence": [
                {
                    "id": "0070055",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070055"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070055"
}