{
    "disease_id": "DOID:0111278",
    "recommended_name": {
        "id": "DOID:0111278",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111278",
        "name": "histiocytosis-lymphadenopathy plus syndrome",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111278",
            "name": "Faisalabad histiocytosis",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111278",
            "name": "H syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111278",
            "name": "HJCD",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111278",
            "name": "PHID",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111278",
            "name": "SHML",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111278",
            "name": "familial Rosai-Dorfman disease",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111278",
            "name": "pigmented hypertrichosis with insulin-dependent diabetes mellitus",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111278",
            "name": "sinus histiocytosis and massive lymphadenopathy",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111278",
            "name": "cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111278",
            "name": "histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111278",
            "name": "histiocytosis with joint contractures and sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0006412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0006412",
            "name": "sinus histiocytosis with massive lymphadenopathy",
            "description": "A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously."
        },
        {
            "id": "MONDO:0006412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0006412",
            "name": "Destombes-RosaC/-Dorfman disease",
            "description": ""
        },
        {
            "id": "MONDO:0006412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0006412",
            "name": "RDD",
            "description": ""
        },
        {
            "id": "MONDO:0006412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0006412",
            "name": "sinus histiocytosis with massive lymphadenopathy",
            "description": ""
        },
        {
            "id": "MONDO:0006412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0006412",
            "name": "RosaC/-Dorfman-Destombes disease",
            "description": ""
        },
        {
            "id": "MONDO:0006412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0006412",
            "name": "Rosai-Dorfman disease",
            "description": ""
        },
        {
            "id": "MONDO:0006412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0006412",
            "name": "Destombes-Rosa-Dorfman disease",
            "description": ""
        },
        {
            "id": "MONDO:0006412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0006412",
            "name": "Rosa-Dorfman-Destombes disease",
            "description": ""
        },
        {
            "id": "MONDO:0006412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0006412",
            "name": "SHML",
            "description": ""
        },
        {
            "id": "MONDO:0011273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011273",
            "name": "H syndrome",
            "description": "A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML)."
        },
        {
            "id": "MONDO:0011273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011273",
            "name": "sinus histiocytosis and massive lymphadenopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011273",
            "name": "H syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011273",
            "name": "hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0011273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011273",
            "name": "histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011273",
            "name": "Rosai-Dorfman disease, familial",
            "description": ""
        },
        {
            "id": "MONDO:0011273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011273",
            "name": "Asrar Facharzt Haque syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011273",
            "name": "pigmented hypertrichosis with insulin-dependent diabetes mellitus",
            "description": ""
        },
        {
            "id": "MONDO:0011273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011273",
            "name": "SLC29A3 spectrum disorder",
            "description": ""
        },
        {
            "id": "MONDO:0011273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011273",
            "name": "Faisalabad histiocytosis",
            "description": ""
        },
        {
            "id": "MONDO:0011273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011273",
            "name": "HJCD",
            "description": ""
        },
        {
            "id": "MONDO:0011273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011273",
            "name": "histiocytosis-lymphadenopathy plus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011273",
            "name": "histiocytosis with Joint contractures and sensorineural deafness",
            "description": ""
        },
        {
            "id": "MIM:602782",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602782",
            "name": "Histiocytosis-lymphadenopathy plus syndrome",
            "description": "Histiocytosis-lymphadenopathy plus syndrome"
        },
        {
            "id": "MIM:602782",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602782",
            "name": "Histiocytosis-lymphadenopathy plus syndrome",
            "description": "Histiocytosis-lymphadenopathy plus syndrome"
        }
    ]
}