{
    "disease_id": "DOID:0081214",
    "recommended_name": {
        "id": "DOID:0081214",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081214",
        "name": "autosomal recessive intellectual developmental disorder 51",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0014759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014759",
            "name": "intellectual disability, autosomal recessive 51",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene."
        },
        {
            "id": "MONDO:0014759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014759",
            "name": "HNMT autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0014759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014759",
            "name": "MRT51",
            "description": ""
        },
        {
            "id": "MONDO:0014759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014759",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in HNMT",
            "description": ""
        },
        {
            "id": "MONDO:0014759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014759",
            "name": "intellectual developmental disorder, autosomal recessive 51",
            "description": ""
        },
        {
            "id": "MONDO:0014759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014759",
            "name": "intellectual disability, autosomal recessive 51",
            "description": ""
        },
        {
            "id": "MONDO:0014759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014759",
            "name": "intellectual disability, autosomal recessive type 51",
            "description": ""
        },
        {
            "id": "MONDO:0014759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014759",
            "name": "mental retardation, autosomal recessive 51",
            "description": ""
        },
        {
            "id": "MONDO:0014759",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014759",
            "name": "mental retardation, autosomal recessive type 51",
            "description": ""
        },
        {
            "id": "MIM:616739",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616739",
            "name": "Intellectual developmental disorder, autosomal recessive 51",
            "description": "Intellectual developmental disorder, autosomal recessive 51"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081214"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081214",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081214",
            "categories": []
        },
        {
            "id": "MONDO:0014759",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014759",
            "categories": []
        },
        {
            "id": "MIM:616739",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616739",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DC37-1",
            "uniprot_ac": "Q6DC37",
            "uniprot_id": "HNMT_DANRE",
            "refseq_ac": "NP_001003636",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histamine N-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.8",
                    "type": "synonym"
                },
                {
                    "name": "HMT",
                    "type": "synonym"
                },
                {
                    "name": "histamine N-methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hnmt",
                    "type": "recommended"
                },
                {
                    "name": "HMT",
                    "type": "synonym"
                },
                {
                    "name": "hnmt",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100917",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DC37-1",
            "evidence": [
                {
                    "id": "0081214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91VF2-1",
            "uniprot_ac": "Q91VF2",
            "uniprot_id": "HNMT_MOUSE",
            "refseq_ac": "NP_536710",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histamine N-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.8",
                    "type": "synonym"
                },
                {
                    "name": "HMT",
                    "type": "synonym"
                },
                {
                    "name": "histamine N-methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hnmt",
                    "type": "recommended"
                },
                {
                    "name": "1500031F01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hmt",
                    "type": "synonym"
                },
                {
                    "name": "Hnmt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91VF2-1",
            "evidence": [
                {
                    "id": "0081214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50135-1",
            "uniprot_ac": "P50135",
            "uniprot_id": "HNMT_HUMAN",
            "refseq_ac": "NP_001019245",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histamine N-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.8",
                    "type": "synonym"
                },
                {
                    "name": "HMT",
                    "type": "synonym"
                },
                {
                    "name": "histamine N-methyltransferase isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HNMT",
                    "type": "recommended"
                },
                {
                    "name": "HMT",
                    "type": "synonym"
                },
                {
                    "name": "HNMT-S1",
                    "type": "synonym"
                },
                {
                    "name": "HNMT-S2",
                    "type": "synonym"
                },
                {
                    "name": "HNMT",
                    "type": "synonym"
                },
                {
                    "name": "MRT51",
                    "type": "synonym"
                }
            ],
            "record_id": "P50135-1",
            "evidence": [
                {
                    "id": "616739",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616739"
                },
                {
                    "id": "0081214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01984-1",
            "uniprot_ac": "Q01984",
            "uniprot_id": "HNMT_RAT",
            "refseq_ac": "NP_112306",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histamine N-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.8",
                    "type": "synonym"
                },
                {
                    "name": "HMT",
                    "type": "synonym"
                },
                {
                    "name": "histamine N-methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hnmt",
                    "type": "recommended"
                },
                {
                    "name": "Hnmt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01984-1",
            "evidence": [
                {
                    "id": "0081214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081214"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081214"
}