{
    "disease_id": "DOID:0111140",
    "recommended_name": {
        "id": "DOID:0111140",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111140",
        "name": "IGSF1 deficiency syndrome",
        "description": "A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26."
    },
    "synonyms": [
        {
            "id": "DOID:0111140",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111140",
            "name": "CHTE",
            "description": ""
        },
        {
            "id": "DOID:0111140",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111140",
            "name": "central hypothyroidism and testicular enlargement",
            "description": ""
        },
        {
            "id": "DOID:0111140",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111140",
            "name": "X-linked central congenital hypothyroidism with late-onset macroorchidism",
            "description": ""
        },
        {
            "id": "DOID:0111140",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111140",
            "name": "X-linked central congenital hypothyroidism with late-onset testicular enlargement",
            "description": ""
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "X-linked central congenital hypothyroidism with late-onset testicular enlargement",
            "description": "An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency."
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "CHTE",
            "description": ""
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "IGSF1 deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "Immunoglobulin superfamily member 1 deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "X-linked central congenital hypothyroidism with late-onset macroorchidism",
            "description": ""
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "X-linked central congenital hypothyroidism with late-onset testicular enlargement",
            "description": ""
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "hypothyroidism Central and testicular enlargement",
            "description": ""
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "hypothyroidism, central, and testicular enlargement, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010475",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "name": "hypothyroidism, central, and testicular enlargement",
            "description": ""
        },
        {
            "id": "MIM:300888",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300888",
            "name": "Hypothyroidism, central, and testicular enlargement",
            "description": "Hypothyroidism, central, and testicular enlargement"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111140"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111140",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111140",
            "categories": []
        },
        {
            "id": "MONDO:0010475",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010475",
            "categories": []
        },
        {
            "id": "MIM:300888",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300888",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7TQA1-1",
            "uniprot_ac": "Q7TQA1",
            "uniprot_id": "IGSF1_MOUSE",
            "refseq_ac": "NP_808259",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Immunoglobulin superfamily member 1",
                    "type": "recommended"
                },
                {
                    "name": "IgSF1",
                    "type": "synonym"
                },
                {
                    "name": "InhBP",
                    "type": "synonym"
                },
                {
                    "name": "Inhibin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "betaglycan and inhibin binding protein",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin superfamily member 1 isoform long precursor",
                    "type": "synonym"
                },
                {
                    "name": "inhBP",
                    "type": "synonym"
                },
                {
                    "name": "inhibin-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Igsf1",
                    "type": "recommended"
                },
                {
                    "name": "5330413N23",
                    "type": "synonym"
                },
                {
                    "name": "5530402E03",
                    "type": "synonym"
                },
                {
                    "name": "Igsf1",
                    "type": "synonym"
                },
                {
                    "name": "InhBP/p120",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0364",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0364",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TQA1-1",
            "evidence": [
                {
                    "id": "0111140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N6C5-1",
            "uniprot_ac": "Q8N6C5",
            "uniprot_id": "IGSF1_HUMAN",
            "refseq_ac": "NP_001164433",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Immunoglobulin superfamily member 1",
                    "type": "recommended"
                },
                {
                    "name": "IgSF1",
                    "type": "synonym"
                },
                {
                    "name": "Immunoglobulin-like domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "InhBP",
                    "type": "synonym"
                },
                {
                    "name": "Inhibin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Pituitary gland-specific factor 2",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin superfamily member 1 isoform 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin-like domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "inhibin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "p120",
                    "type": "synonym"
                },
                {
                    "name": "pituitary gland-specific factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IGSF1",
                    "type": "recommended"
                },
                {
                    "name": "CHTE",
                    "type": "synonym"
                },
                {
                    "name": "IGCD1",
                    "type": "synonym"
                },
                {
                    "name": "IGDC1",
                    "type": "synonym"
                },
                {
                    "name": "IGSF1",
                    "type": "synonym"
                },
                {
                    "name": "INHBP",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0364",
                    "type": "synonym"
                },
                {
                    "name": "PGSF2",
                    "type": "synonym"
                },
                {
                    "name": "p120",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N6C5-1",
            "evidence": [
                {
                    "id": "300888",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300888"
                },
                {
                    "id": "0111140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111140"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q925N6-1",
            "uniprot_ac": "Q925N6",
            "uniprot_id": "IGSF1_RAT",
            "refseq_ac": "NP_786939",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Immunoglobulin superfamily member 1",
                    "type": "recommended"
                },
                {
                    "name": "IgSF1",
                    "type": "synonym"
                },
                {
                    "name": "InhBP",
                    "type": "synonym"
                },
                {
                    "name": "Inhibin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin superfamily member 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "inhibin-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Igsf1",
                    "type": "recommended"
                },
                {
                    "name": "Igsf1",
                    "type": "synonym"
                },
                {
                    "name": "Inhbp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q925N6-1",
            "evidence": [
                {
                    "id": "0111140",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111140"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111140"
}