{
    "disease_id": "DOID:0060168",
    "recommended_name": {
        "id": "DOID:0060168",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060168",
        "name": "histidinemia",
        "description": "A histidine metabolism disease characterized by a deficiency of the enzyme histidase."
    },
    "synonyms": [
        {
            "id": "DOID:0060168",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060168",
            "name": "histidinuria",
            "description": ""
        },
        {
            "id": "MONDO:0009345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009345",
            "name": "histidinemia",
            "description": "Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions."
        },
        {
            "id": "MONDO:0009345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009345",
            "name": "HIS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009345",
            "name": "Hal deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009345",
            "name": "Histidinuria",
            "description": ""
        },
        {
            "id": "MONDO:0009345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009345",
            "name": "histidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009345",
            "name": "histidine ammonia-lyase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009345",
            "name": "histidinemia",
            "description": ""
        },
        {
            "id": "MONDO:0009345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009345",
            "name": "histidinuria",
            "description": ""
        },
        {
            "id": "MONDO:0009345",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009345",
            "name": "hyperhistidinemia",
            "description": ""
        },
        {
            "id": "MIM:235800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/235800",
            "name": "Histidinemia",
            "description": "Histidinemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060168"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060168",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060168",
            "categories": []
        },
        {
            "id": "MONDO:0009345",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009345",
            "categories": []
        },
        {
            "id": "MIM:235800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/235800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P35492-1",
            "uniprot_ac": "P35492",
            "uniprot_id": "HUTH_MOUSE",
            "refseq_ac": "NP_034531",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histidine ammonia-lyase",
                    "type": "recommended"
                },
                {
                    "name": "4.3.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Histidase",
                    "type": "synonym"
                },
                {
                    "name": "histidine ammonia-lyase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hal",
                    "type": "recommended"
                },
                {
                    "name": "Hal",
                    "type": "synonym"
                },
                {
                    "name": "Hsd",
                    "type": "synonym"
                },
                {
                    "name": "Huth",
                    "type": "synonym"
                },
                {
                    "name": "histidase",
                    "type": "synonym"
                },
                {
                    "name": "his",
                    "type": "synonym"
                }
            ],
            "record_id": "P35492-1",
            "evidence": [
                {
                    "id": "0060168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42357-1",
            "uniprot_ac": "P42357",
            "uniprot_id": "HUTH_HUMAN",
            "refseq_ac": "NP_001245262",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histidine ammonia-lyase",
                    "type": "recommended"
                },
                {
                    "name": "4.3.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Histidase",
                    "type": "synonym"
                },
                {
                    "name": "histidase",
                    "type": "synonym"
                },
                {
                    "name": "histidine ammonia-lyase isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HAL",
                    "type": "recommended"
                },
                {
                    "name": "HAL",
                    "type": "synonym"
                },
                {
                    "name": "HIS",
                    "type": "synonym"
                },
                {
                    "name": "HSTD",
                    "type": "synonym"
                }
            ],
            "record_id": "P42357-1",
            "evidence": [
                {
                    "id": "235800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/235800"
                },
                {
                    "id": "0060168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060168"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21213-1",
            "uniprot_ac": "P21213",
            "uniprot_id": "HUTH_RAT",
            "refseq_ac": "NP_058855",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histidine ammonia-lyase",
                    "type": "recommended"
                },
                {
                    "name": "4.3.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Histidase",
                    "type": "synonym"
                },
                {
                    "name": "histidine ammonia-lyase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hal",
                    "type": "recommended"
                },
                {
                    "name": "Hal",
                    "type": "synonym"
                },
                {
                    "name": "Huth",
                    "type": "synonym"
                },
                {
                    "name": "histidase",
                    "type": "synonym"
                }
            ],
            "record_id": "P21213-1",
            "evidence": [
                {
                    "id": "0060168",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060168"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060168"
}