{
    "disease_id": "DOID:0060806",
    "recommended_name": {
        "id": "DOID:0060806",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060806",
        "name": "syndromic X-linked intellectual disability Hedera type",
        "description": "A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "DOID:0060806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060806",
            "name": "mental retardation, X-linked, syndromic, Hedera type",
            "description": ""
        },
        {
            "id": "DOID:0060806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060806",
            "name": "MRXE",
            "description": ""
        },
        {
            "id": "DOID:0060806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060806",
            "name": "MRXSH",
            "description": ""
        },
        {
            "id": "DOID:0060806",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060806",
            "name": "X-linked mental retardation with epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0010319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "name": "syndromic X-linked intellectual disability Hedera type",
            "description": "X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported."
        },
        {
            "id": "MONDO:0010319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "name": "MRXE",
            "description": ""
        },
        {
            "id": "MONDO:0010319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "name": "MRXSH",
            "description": ""
        },
        {
            "id": "MONDO:0010319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "name": "X-linked intellectual disability with epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0010319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "name": "intellectual developmental disorder, X-linked, syndromic, Hedera type, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "name": "intellectual disability, X-linked, syndromic, Hedera type",
            "description": ""
        },
        {
            "id": "MONDO:0010319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "name": "mental retardation, X-linked, syndromic, Hedera type",
            "description": ""
        },
        {
            "id": "MONDO:0010319",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "name": "mental retardation, X-linked, with epilepsy",
            "description": ""
        },
        {
            "id": "MIM:300423",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300423",
            "name": "Intellectual developmental disorder, X-linked, syndromic, Hedera type",
            "description": "Intellectual developmental disorder, X-linked, syndromic, Hedera type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060806"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060806",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060806",
            "categories": []
        },
        {
            "id": "MONDO:0010319",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010319",
            "categories": []
        },
        {
            "id": "MIM:300423",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300423",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "A0A286YA30",
            "uniprot_id": "A0A286YA30_DANRE",
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                    "glygen_name": "Zebrafish",
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                }
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                    "type": "recommended"
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                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
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                    "name": "Renin/prorenin receptor",
                    "type": "synonym"
                },
                {
                    "name": "renin receptor isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "atp6ap2",
                    "type": "recommended"
                },
                {
                    "name": "atp6ap2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj36c03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fq15e04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73194",
                    "type": "synonym"
                }
            ],
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                    "id": "0060806",
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                }
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                }
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                {
                    "name": "Aristaless-related homeobox protein A",
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                {
                    "name": "ARX-A",
                    "type": "synonym"
                },
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                    "name": "aristaless-related homeobox protein",
                    "type": "synonym"
                },
                {
                    "name": "etID309855.24",
                    "type": "synonym"
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                    "name": "paired-like (aristaless) homeobox 2a",
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                    "name": "arxa",
                    "type": "recommended"
                },
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                    "name": "arxa",
                    "type": "synonym"
                },
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                    "name": "arx",
                    "type": "synonym"
                },
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                    "name": "phox2a",
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                    "id": "0060806",
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                    "reference_species": "Danio rerio [7955]"
                }
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                    "name": "Aristaless-related homeobox protein",
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            ],
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                    "name": "arxb",
                    "type": "recommended"
                },
                {
                    "name": "arxb",
                    "type": "synonym"
                }
            ],
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                    "id": "0060806",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CYN9-1",
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                {
                    "name": "Mus musculus",
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "type": "recommended"
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                    "name": "ATPase H(+)-transporting lysosomal accessory protein 2",
                    "type": "synonym"
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                {
                    "name": "ATPase H(+)-transporting lysosomal-interacting protein 2",
                    "type": "synonym"
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                    "name": "ATPase, H+ transporting, lysosomal interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal interacting protein 2",
                    "type": "synonym"
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                    "name": "Renin/prorenin receptor",
                    "type": "synonym"
                },
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                    "name": "renin receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "renin receptor",
                    "type": "synonym"
                },
                {
                    "name": "renin/prorenin receptor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Atp6ap2",
                    "type": "recommended"
                },
                {
                    "name": "(P)RR",
                    "type": "synonym"
                },
                {
                    "name": "5730403E06Rik",
                    "type": "synonym"
                },
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                    "name": "APT6M8-9",
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                },
                {
                    "name": "ATP6M8-9",
                    "type": "synonym"
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                    "name": "Atp6ap2",
                    "type": "synonym"
                },
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                    "name": "Atp6ip2",
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                    "name": "PRR",
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                    "id": "0060806",
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            ]
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein ARX",
                    "type": "recommended"
                },
                {
                    "name": "Aristaless-related homeobox",
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                {
                    "name": "homeobox protein ARX",
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                    "type": "recommended"
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                {
                    "name": "Arx1",
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                    "id": "0060806",
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            "uniprot_canonical_ac": "O75787-1",
            "uniprot_ac": "O75787",
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                {
                    "name": "Homo sapiens",
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                    "name": "ATP6M8-9",
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                    "type": "synonym"
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                    "name": "Embryonic liver differentiation factor 10",
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                    "name": "N14F",
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                    "name": "renin/prorenin receptor",
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                    "name": "vacuolar ATP synthase membrane sector-associated protein M8-9",
                    "type": "synonym"
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                {
                    "name": "vacuolar proton ATP synthase membrane sector associated protein M8-9",
                    "type": "synonym"
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                    "name": "ATP6AP2",
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                    "name": "CAPER",
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                {
                    "name": "PSEC0072",
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                    "id": "0060806",
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                    "name": "RGD1562672",
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                    "id": "0060806",
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}