{
    "disease_id": "DOID:0060290",
    "recommended_name": {
        "id": "DOID:0060290",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060290",
        "name": "Ohdo syndrome, SBBYS variant",
        "description": "A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060290",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060290",
            "name": "Say-Barber-Biesecker-Young-Simpson syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060290",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060290",
            "name": "blepharophimosis-intellectual disability syndrome, SBBYS type",
            "description": ""
        },
        {
            "id": "MONDO:0011365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011365",
            "name": "blepharophimosis - intellectual disability syndrome, SBBYS type",
            "description": "Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested."
        },
        {
            "id": "MONDO:0011365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011365",
            "name": "Ohdo syndrome, SBBYS variant",
            "description": ""
        },
        {
            "id": "MONDO:0011365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011365",
            "name": "SBBYSS",
            "description": ""
        },
        {
            "id": "MONDO:0011365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011365",
            "name": "SBBYSS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011365",
            "name": "Say-Barber-Biesecker-Young-Simpson syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011365",
            "name": "blepharophimosis - intellectual disability syndrome, SBBYS type",
            "description": ""
        },
        {
            "id": "MONDO:0011365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011365",
            "name": "hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MIM:603736",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603736",
            "name": "Ohdo syndrome, SBBYS variant",
            "description": "Ohdo syndrome, SBBYS variant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060290"
    ],
    "unlinked_id_list": []
}