{
    "disease_id": "DOID:0111278",
    "recommended_name": {
        "id": "DOID:0111278",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0111278",
            "name": "Faisalabad histiocytosis",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111278",
            "name": "H syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111278",
            "name": "HJCD",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111278",
            "name": "PHID",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111278",
            "name": "SHML",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111278",
            "name": "familial Rosai-Dorfman disease",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111278",
            "name": "pigmented hypertrichosis with insulin-dependent diabetes mellitus",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111278",
            "name": "sinus histiocytosis and massive lymphadenopathy",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "https://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": "https://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": "https://disease-ontology.org/term/DOID:0111278",
            "name": "histiocytosis with joint contractures and sensorineural deafness",
            "description": ""
        },
        {
            "id": "DOID:0111278",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111278",
            "name": "RosaiDorfman disease",
            "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": "Asrar Facharzt Haque syndrome",
            "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": "HJCD",
            "description": ""
        },
        {
            "id": "MONDO:0011273",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011273",
            "name": "SLC29A3 spectrum disorder",
            "description": ""
        },
        {
            "id": "MIM:602782",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602782",
            "name": "Histiocytosis-lymphadenopathy plus syndrome",
            "description": "Histiocytosis-lymphadenopathy plus syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111278"
    ],
    "unlinked_id_list": []
}