{
    "disease_id": "DOID:0111278", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011273", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011273", 
            "name": "H syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011273", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011273", 
            "name": "sinus histiocytosis and massive lymphadenopathy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011273", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011273", 
            "name": "hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011273", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011273", 
            "name": "histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011273", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011273", 
            "name": "Rosai-Dorfman disease, familial"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011273", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011273", 
            "name": "HJCD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011273", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011273", 
            "name": "pigmented hypertrichosis with insulin-dependent diabetes mellitus"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011273", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011273", 
            "name": "SLC29A3 spectrum disorder"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011273", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011273", 
            "name": "Faisalabad histiocytosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011273", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011273", 
            "name": "histiocytosis with Joint contractures and sensorineural deafness"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111278", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111278", 
            "name": "Faisalabad histiocytosis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111278", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111278", 
            "name": "H syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111278", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111278", 
            "name": "HJCD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111278", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111278", 
            "name": "PHID"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111278", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111278", 
            "name": "SHML"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111278", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111278", 
            "name": "familial Rosai-Dorfman disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111278", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111278", 
            "name": "pigmented hypertrichosis with insulin-dependent diabetes mellitus"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111278", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111278", 
            "name": "sinus histiocytosis and massive lymphadenopathy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111278", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111278", 
            "name": "cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111278", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111278", 
            "name": "histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111278", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111278", 
            "name": "histiocytosis with joint contractures and sensorineural deafness"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111278", 
        "description": "A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111278", 
        "name": "histiocytosis-lymphadenopathy plus syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111278#disease-associations", 
            "id": "0111278", 
            "database": "Alliance of Genome Resources"
        }
    ]
}