{
    "disease_id": "DOID:0111842",
    "recommended_name": {
        "id": "DOID:0111842",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111842",
        "name": "Keipert syndrome",
        "description": "A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111842",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111842",
            "name": "KPTS",
            "description": ""
        },
        {
            "id": "DOID:0111842",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111842",
            "name": "nasodigitoacoustic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009720",
            "name": "Keipert syndrome",
            "description": "A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis."
        },
        {
            "id": "MONDO:0009720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009720",
            "name": "KPTS",
            "description": ""
        },
        {
            "id": "MONDO:0009720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009720",
            "name": "Keipert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009720",
            "name": "Keipert syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009720",
            "name": "nasodigitoacoustic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009720",
            "name": "nasodigitoacoustic syndrome, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009720",
            "name": "Keipert syndrome",
            "description": "A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis."
        },
        {
            "id": "MONDO:0009720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009720",
            "name": "KPTS",
            "description": ""
        },
        {
            "id": "MONDO:0009720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009720",
            "name": "Keipert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009720",
            "name": "Keipert syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009720",
            "name": "nasodigitoacoustic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009720",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009720",
            "name": "nasodigitoacoustic syndrome, formerly",
            "description": ""
        },
        {
            "id": "MIM:301026",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301026",
            "name": "Keipert syndrome",
            "description": "Keipert syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111842"
    ],
    "unlinked_id_list": []
}