{
    "disease_id": "DOID:0110595", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009477", 
            "name": "primary ciliary dyskinesia 31"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009477", 
            "name": "apple peel syndrome with microcephaly and ocular anomalies"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009477", 
            "name": "apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009477", 
            "name": "ciliary dyskinesia, primary, 31"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009477", 
            "name": "STROMS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009477", 
            "name": "Stromme syndrome; STROMS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009477", 
            "name": "jejunal atresia-microcephaly-ocular anomalies syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009477", 
            "name": "CILD31"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009477", 
            "name": "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009477", 
            "name": "jejunal atresia with microcephaly and ocular anomalies"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009477", 
            "name": "ciliary dyskinesia, primary, 31, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009477", 
            "name": "ciliary dyskinesia, primary, type 31"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009477", 
            "name": "ciliary dyskinesia, primary, 31; CILD31"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110595", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110595", 
            "name": "apple peel syndrome with microcephaly and ocular anomalies"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110595", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110595", 
            "name": "CILD31"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110595", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110595", 
            "name": "jejunal atresia with microcephaly and ocular anomalies"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110595", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110595", 
            "name": "primary ciliary dyskinesia 31"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110595", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110595", 
            "name": "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110595", 
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110595", 
        "name": "Stromme syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0110595#disease-associations", 
            "id": "0110595", 
            "database": "Alliance of Genome Resources"
        }
    ]
}