{
    "disease_id": "DOID:0090032",
    "recommended_name": {
        "id": "DOID:0090032",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090032",
        "name": "Silverman-Handmaker type dyssegmental dysplasia",
        "description": "An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "MONDO:0009140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009140",
            "name": "Silverman-Handmaker type dyssegmental dysplasia",
            "description": "Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities."
        },
        {
            "id": "MONDO:0009140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009140",
            "name": "Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type",
            "description": ""
        },
        {
            "id": "MONDO:0009140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009140",
            "name": "DDSH",
            "description": ""
        },
        {
            "id": "MONDO:0009140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009140",
            "name": "dyssegmental dwarfism Silverman-Handmaker type",
            "description": ""
        },
        {
            "id": "MONDO:0009140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009140",
            "name": "dyssegmental dysplasia Silverman-Handmaker type",
            "description": ""
        },
        {
            "id": "MONDO:0009140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009140",
            "name": "dyssegmental dysplasia, Silverman-Handmaker type",
            "description": ""
        },
        {
            "id": "MIM:224410",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/224410",
            "name": "Dyssegmental dysplasia Silverman-Handmaker type",
            "description": "Dyssegmental dysplasia Silverman-Handmaker type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090032"
    ],
    "unlinked_id_list": []
}