{
    "disease_id": "DOID:0070047",
    "recommended_name": {
        "id": "DOID:0070047",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070047",
        "name": "Schuurs-Hoeijmakers Syndrome",
        "description": "An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of PACS1 on chromosome 11q13.1-q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070047",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070047",
            "name": "MRD17",
            "description": ""
        },
        {
            "id": "DOID:0070047",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070047",
            "name": "SHMS",
            "description": ""
        },
        {
            "id": "DOID:0070047",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070047",
            "name": "autosomal dominant mental retardation 17",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome",
            "description": "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed."
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "autosomal dominant intellectual disability-17",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "MRD17",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "Schuurs-Hoeijmakers syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "PACS1-related syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "mental retardation, autosomal dominant type 17",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "Schuurs-Hoeijmakers syndrome; SHMS",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "autosomal dominant mental retardation 17",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "SHMS",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "mental retardation, autosomal dominant 17",
            "description": ""
        },
        {
            "id": "MONDO:0014006",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014006",
            "name": "mental retardation, autosomal dominant 17; MRD17",
            "description": ""
        },
        {
            "id": "MIM:615009",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615009",
            "name": "Schuurs-Hoeijmakers syndrome",
            "description": "Schuurs-Hoeijmakers syndrome"
        }
    ]
}