{
    "disease_id": "DOID:0061251",
    "recommended_name": {
        "id": "DOID:0061251",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061251",
        "name": "Charcot-Marie-Tooth disease type 2KK",
        "description": "A Charcot-Marie-Tooth disease type 2 characterized by motor nerves in the lower limbs, leading to gait difficulties with foot drop, increased falls, muscle atrophy of the lower limbs, and areflexia that has_material_basis_in homozygous mutation in the ARHGAP19 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0980963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980963",
            "name": "Charcot-Marie-Tooth disease, axonal, type 2KK",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061251"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061251",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061251",
            "categories": []
        },
        {
            "id": "MONDO:0980963",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0980963",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q14CB8-1",
            "uniprot_ac": "Q14CB8",
            "uniprot_id": "RHG19_HUMAN",
            "refseq_ac": "NP_001191229",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho GTPase-activating protein 19",
                    "type": "recommended"
                },
                {
                    "name": "Rho-type GTPase-activating protein 19",
                    "type": "synonym"
                },
                {
                    "name": "putative RhoGAP protein",
                    "type": "synonym"
                },
                {
                    "name": "rho GTPase-activating protein 19 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "rho-type GTPase-activating protein 19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARHGAP19",
                    "type": "recommended"
                },
                {
                    "name": "ARHGAP19",
                    "type": "synonym"
                },
                {
                    "name": "CMT2KK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14CB8-1",
            "evidence": [
                {
                    "id": "621466",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621466"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061251"
}