{
    "disease_id": "DOID:1933",
    "recommended_name": {
        "id": "DOID:1933",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:1933",
        "name": "Rubinstein-Taybi syndrome",
        "description": "A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes."
    },
    "synonyms": [
        {
            "id": "DOID:1933",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:1933",
            "name": "Broad Thumb-Hallux syndrome",
            "description": ""
        },
        {
            "id": "DOID:1933",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:1933",
            "name": "Rubinstein syndrome",
            "description": ""
        },
        {
            "id": "DOID:1933",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:1933",
            "name": "proximal chromosome 16p13.3 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008393",
            "name": "Rubinstein-Taybi syndrome due to CREBBP mutations",
            "description": "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene."
        },
        {
            "id": "MONDO:0008393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008393",
            "name": "RSTS1",
            "description": ""
        },
        {
            "id": "MONDO:0008393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008393",
            "name": "broad thumb-hallux syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008393",
            "name": "CREBBP Rubinstein-Taybi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008393",
            "name": "RSTS",
            "description": ""
        },
        {
            "id": "MONDO:0008393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008393",
            "name": "broad thumbs and great toes, characteristic facies, and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0008393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008393",
            "name": "Rubinstein-Taybi syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008393",
            "name": "Rubinstein syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008393",
            "name": "Rubinstein-Taybi syndrome caused by mutation in CREBBP",
            "description": ""
        },
        {
            "id": "MONDO:0008393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008393",
            "name": "Rubinstein-Taybi syndrome 1; RSTS1",
            "description": ""
        },
        {
            "id": "MONDO:0008393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008393",
            "name": "Rubinstein-Taybi syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0012519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012519",
            "name": "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion",
            "description": "Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece ( deletion ) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome , it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive , hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders ."
        },
        {
            "id": "MONDO:0012519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012519",
            "name": "Rsts deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012519",
            "name": "16p13.3 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012519",
            "name": "Rubinstein-Taybi deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012519",
            "name": "chromosome 16p13.3 deletion syndrome, proximal",
            "description": ""
        },
        {
            "id": "MONDO:0013364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013364",
            "name": "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency",
            "description": "Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene."
        },
        {
            "id": "MONDO:0013364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013364",
            "name": "EP300 Rubinstein-Taybi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013364",
            "name": "Rubinstein-Taybi syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013364",
            "name": "Rubinstein-Taybi syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013364",
            "name": "RSTS2",
            "description": ""
        },
        {
            "id": "MONDO:0013364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013364",
            "name": "Rubinstein-Taybi syndrome caused by mutation in EP300",
            "description": ""
        },
        {
            "id": "MONDO:0013364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013364",
            "name": "Rubinstein-Taybi syndrome 2; RSTS2",
            "description": ""
        },
        {
            "id": "MIM:180849",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/180849",
            "name": "Rubinstein-Taybi syndrome 1",
            "description": "Rubinstein-Taybi syndrome 1"
        },
        {
            "id": "MIM:613684",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613684",
            "name": "Rubinstein-Taybi syndrome 2",
            "description": "Rubinstein-Taybi syndrome 2"
        }
    ]
}