{
    "disease_id": "DOID:0060397",
    "recommended_name": {
        "id": "DOID:0060397",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060397",
        "name": "chromosome 15q26-qter deletion syndrome",
        "description": "A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia."
    },
    "synonyms": [
        {
            "id": "DOID:0060397",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060397",
            "name": "15q26 deletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060397",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060397",
            "name": "Drayer syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060397",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060397",
            "name": "distal 15q deletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060397",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060397",
            "name": "distal monosomy 15q",
            "description": ""
        },
        {
            "id": "DOID:0060397",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060397",
            "name": "telomeric 15q deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012964",
            "name": "chromosome 15q26-qter deletion syndrome",
            "description": "Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported."
        },
        {
            "id": "MONDO:0012964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012964",
            "name": "15q26 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012964",
            "name": "Drayer syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012964",
            "name": "chromosome 15q26-qter deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012964",
            "name": "chromosome 15q26-qter deletion syndrome, isolated cases",
            "description": ""
        },
        {
            "id": "MONDO:0012964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012964",
            "name": "distal 15q deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012964",
            "name": "distal monosomy 15q",
            "description": ""
        },
        {
            "id": "MONDO:0012964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012964",
            "name": "distal monosomy type 15q",
            "description": ""
        },
        {
            "id": "MONDO:0012964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012964",
            "name": "monosomy 15q26",
            "description": ""
        },
        {
            "id": "MONDO:0012964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012964",
            "name": "telomeric 15q deletion syndrome",
            "description": ""
        }
    ]
}