{
    "disease_id": "DOID:0111060",
    "recommended_name": {
        "id": "DOID:0111060",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111060",
        "name": "Ambras type hypertrichosis universalis congenita",
        "description": "A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has material_basis_in chromosomal abnormalities in the region 8q22."
    },
    "synonyms": [
        {
            "id": "DOID:0111060",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111060",
            "name": "Ambras syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111060",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111060",
            "name": "HTC1",
            "description": ""
        },
        {
            "id": "MONDO:0007787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007787",
            "name": "Ambras type hypertrichosis universalis congenita",
            "description": "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth."
        },
        {
            "id": "MONDO:0007787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007787",
            "name": "hypertrichosis universalis congenita, Ambras type; HTC1",
            "description": ""
        },
        {
            "id": "MONDO:0007787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007787",
            "name": "hypertrichosis universalis congenita Ambras type",
            "description": ""
        },
        {
            "id": "MONDO:0007787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007787",
            "name": "HTC 1",
            "description": ""
        },
        {
            "id": "MONDO:0007787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007787",
            "name": "hypertrichosis universalis congenita, Ambras type",
            "description": ""
        },
        {
            "id": "MONDO:0007787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007787",
            "name": "Ambras syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007787",
            "name": "hypertrichosis, congenital generalized",
            "description": ""
        },
        {
            "id": "MONDO:0007787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007787",
            "name": "HTC1",
            "description": ""
        },
        {
            "id": "MONDO:0007787",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007787",
            "name": "congenital generalized hypertrichosis, Ambras type",
            "description": ""
        }
    ]
}