{
    "disease_id": "DOID:0060793",
    "recommended_name": {
        "id": "DOID:0060793",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060793",
        "name": "hypomyelinating leukodystrophy 5",
        "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15."
    },
    "synonyms": [
        {
            "id": "DOID:0060793",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060793",
            "name": "HLD5",
            "description": ""
        },
        {
            "id": "DOID:0060793",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060793",
            "name": "hypomyelination-congenital cataract syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "hypomyelinating leukodystrophy 5",
            "description": "Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit."
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "FAM126A leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "HLD5",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "hypomyelinating leukodystrophy type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "hypomyelination-congenital cataract syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "leukodystrophy caused by mutation in FAM126A",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "leukodystrophy, hypomyelinating, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "hypomyelination - congenital cataract",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "hypomyelination and congenital cataract",
            "description": ""
        },
        {
            "id": "MONDO:0012514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "name": "leukodystrophy, hypomyelinating, 5",
            "description": ""
        },
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            "resource": "MIM",
            "url": "https://www.omim.org/entry/610532",
            "name": "Leukodystrophy, hypomyelinating, 5",
            "description": "Leukodystrophy, hypomyelinating, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060793"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060793",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060793",
            "categories": []
        },
        {
            "id": "MONDO:0012514",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012514",
            "categories": []
        },
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            "id": "MIM:610532",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610532",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "Q6P121-1",
            "uniprot_ac": "Q6P121",
            "uniprot_id": "HYCCI_DANRE",
            "refseq_ac": "NP_991193",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Hyccin",
                    "type": "recommended"
                },
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                    "name": "hycc1",
                    "type": "recommended"
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                },
                {
                    "name": "hycc1",
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                },
                {
                    "name": "zgc:77228",
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            "uniprot_ac": "Q6P9N1",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "type": "recommended"
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                    "name": "Down-regulated by CTNNB1 protein A",
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            ],
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            ]
        },
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            "uniprot_ac": "Q8C729",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "name": "Hyccin 2",
                    "type": "recommended"
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                    "name": "family with sequence similarity 126, member B",
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                {
                    "name": "hyccin 2",
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                    "name": "protein FAM126B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hycc2",
                    "type": "recommended"
                },
                {
                    "name": "C130065N10Rik",
                    "type": "synonym"
                },
                {
                    "name": "D1Ertd53e",
                    "type": "synonym"
                },
                {
                    "name": "D630010C10",
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                },
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                    "name": "Fam126b",
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                },
                {
                    "name": "Hycc2",
                    "type": "synonym"
                }
            ],
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                    "id": "0060793",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060793"
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            ]
        },
        {
            "uniprot_canonical_ac": "Q9BYI3-1",
            "uniprot_ac": "Q9BYI3",
            "uniprot_id": "HYCCI_HUMAN",
            "refseq_ac": "NP_115970",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
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            ],
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                    "name": "Hyccin",
                    "type": "recommended"
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                    "name": "Down-regulated by CTNNB1 protein A",
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                },
                {
                    "name": "down regulated by Ctnnb1, a",
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                },
                {
                    "name": "down-regulated by CTNNB1 protein A",
                    "type": "synonym"
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                {
                    "name": "family with sequence similarity 126 member A",
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                    "name": "hyccin isoform 1",
                    "type": "synonym"
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                {
                    "name": "hyccin",
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            ],
            "gene_names": [
                {
                    "name": "HYCC1",
                    "type": "recommended"
                },
                {
                    "name": "DRCTNNB1A",
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                },
                {
                    "name": "FAM126A",
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                },
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                    "name": "HCC",
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                },
                {
                    "name": "HLD5",
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            ],
            "record_id": "Q9BYI3-1",
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                    "id": "0060793",
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            "uniprot_canonical_ac": "A0ABK0M1U5-1",
            "uniprot_ac": "A0ABK0M1U5",
            "uniprot_id": "A0ABK0M1U5_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
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            ],
            "protein_names": [
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                    "name": "Hyccin PI4KA lipid kinase complex subunit 1",
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                {
                    "name": "Hycc1",
                    "type": "recommended"
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                {
                    "name": "Fam126a",
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                }
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                    "id": "0060793",
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            "uniprot_canonical_ac": "A0A8I5ZT89-1",
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                    "name": "family with sequence similarity 126, member B",
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                    "name": "Fam126b",
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            "uniprot_canonical_ac": "Q8IXS8-1",
            "uniprot_ac": "Q8IXS8",
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                    "name": "Homo sapiens",
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                    "name": "protein FAM126B",
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        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060793"
}