{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0111278",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111278",
            "categories": []
        },
        {
            "id": "MONDO:0011273",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011273",
            "categories": []
        },
        {
            "id": "MIM:602782",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602782",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99P65-1",
            "uniprot_ac": "Q99P65",
            "uniprot_id": "S29A3_MOUSE",
            "refseq_ac": "NP_076085",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Equilibrative nucleoside transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 29 member 3",
                    "type": "synonym"
                },
                {
                    "name": "equilibrative nucleoside transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "mENT3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 29 member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc29a3",
                    "type": "recommended"
                },
                {
                    "name": "4933435C21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ent3",
                    "type": "synonym"
                },
                {
                    "name": "Slc29a3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99P65-1",
            "evidence": [
                {
                    "id": "0111278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BZD2-1",
            "uniprot_ac": "Q9BZD2",
            "uniprot_id": "S29A3_HUMAN",
            "refseq_ac": "NP_001167569",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Equilibrative nucleoside transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 29 member 3",
                    "type": "synonym"
                },
                {
                    "name": "equilibrative nucleoside transporter 3 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "hENT3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 29 (equilibrative nucleoside transporter), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 29 (nucleoside transporters), member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC29A3",
                    "type": "recommended"
                },
                {
                    "name": "ENT3",
                    "type": "synonym"
                },
                {
                    "name": "HCLAP",
                    "type": "synonym"
                },
                {
                    "name": "HJCD",
                    "type": "synonym"
                },
                {
                    "name": "PHID",
                    "type": "synonym"
                },
                {
                    "name": "PRO1380",
                    "type": "synonym"
                },
                {
                    "name": "SLC29A3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BZD2-1",
            "evidence": [
                {
                    "id": "602782",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602782"
                },
                {
                    "id": "0111278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31381-1",
            "uniprot_ac": "P31381",
            "uniprot_id": "FUN26_YEAST",
            "refseq_ac": "NP_009380",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleoside transporter FUN26",
                    "type": "recommended"
                },
                {
                    "name": "nucleoside transmembrane transporter FUN26",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FUN26",
                    "type": "recommended"
                },
                {
                    "name": "FUN26",
                    "type": "synonym"
                }
            ],
            "record_id": "P31381-1",
            "evidence": [
                {
                    "id": "0111278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80WK7-1",
            "uniprot_ac": "Q80WK7",
            "uniprot_id": "S29A3_RAT",
            "refseq_ac": "NP_853670",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Equilibrative nucleoside transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 29 member 3",
                    "type": "synonym"
                },
                {
                    "name": "equilibrative nucleoside transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "rENT3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 29 (equilibrative nucleoside transporter), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 29 (nucleoside transporters), member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc29a3",
                    "type": "recommended"
                },
                {
                    "name": "Ent3",
                    "type": "synonym"
                },
                {
                    "name": "Slc29a3",
                    "type": "synonym"
                },
                {
                    "name": "rENT3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80WK7-1",
            "evidence": [
                {
                    "id": "0111278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111278"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPP0-1",
            "uniprot_ac": "Q9VPP0",
            "uniprot_id": "Q9VPP0_DROME",
            "refseq_ac": "NP_001259820",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11907-PC",
                    "type": "synonym"
                },
                {
                    "name": "Ent1-PC",
                    "type": "synonym"
                },
                {
                    "name": "Equilibrative nucleoside transporter 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Equilibrative nucleoside transporter 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Equilibrative nucleoside transporter 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-2G2",
                    "type": "synonym"
                },
                {
                    "name": "equilibrative nucleoside transporter 1, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ent1",
                    "type": "recommended"
                },
                {
                    "name": "CG11907",
                    "type": "synonym"
                },
                {
                    "name": "DmENT1",
                    "type": "synonym"
                },
                {
                    "name": "DmEnt1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11907",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11907",
                    "type": "synonym"
                },
                {
                    "name": "ENT1",
                    "type": "synonym"
                },
                {
                    "name": "Ent1",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe2G2",
                    "type": "synonym"
                },
                {
                    "name": "dENT1",
                    "type": "synonym"
                },
                {
                    "name": "ent1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPP0-1",
            "evidence": [
                {
                    "id": "0111278",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111278"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111278"
}