{
    "disease_id": "DOID:0110711",
    "recommended_name": {
        "id": "DOID:0110711",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110711",
        "name": "congenital hypotrichosis with juvenile macular dystrophy",
        "description": "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110711",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110711",
            "name": "hypotrichosis with cone-rod dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0110711",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110711",
            "name": "HJMD",
            "description": ""
        },
        {
            "id": "MONDO:0011107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "name": "congenital hypotrichosis with juvenile macular dystrophy",
            "description": "A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness."
        },
        {
            "id": "MONDO:0011107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "name": "HJMD",
            "description": ""
        },
        {
            "id": "MONDO:0011107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "name": "Hjmd",
            "description": ""
        },
        {
            "id": "MONDO:0011107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "name": "hypotrichosis with cone-rod dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "name": "hypotrichosis with juvenile macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "name": "hypotrichosis, congenital, with juvenile macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "name": "juvenile macular degeneration and hypotrichosis",
            "description": ""
        },
        {
            "id": "MONDO:0011107",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011107",
            "name": "juvenile macular dystrophy and congenital hypotrichosis",
            "description": ""
        },
        {
            "id": "MIM:601553",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601553",
            "name": "Hypotrichosis congenital with juvenile macular dystrophy",
            "description": "Hypotrichosis congenital with juvenile macular dystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110711"
    ],
    "unlinked_id_list": []
}