{
    "disease_id": "DOID:0111821",
    "recommended_name": {
        "id": "DOID:0111821",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111821",
        "name": "ichthyosis follicularis-alopecia-photophobia syndrome 1",
        "description": "A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12."
    },
    "synonyms": [
        {
            "id": "DOID:0111821",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111821",
            "name": "IFAP syndrome 1",
            "description": ""
        },
        {
            "id": "DOID:0111821",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111821",
            "name": "IFAP syndrome 1 with or without BRESHECK syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111821",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111821",
            "name": "ichthyosis follicularis-atrichia-photophobia syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0100213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100213",
            "name": "IFAP syndrome 1, with or without BRESHECK syndrome",
            "description": "An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome."
        },
        {
            "id": "MONDO:0100213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100213",
            "name": "ichthyosis follicularis-alopecia-photophobia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0100213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100213",
            "name": "IFAP syndrome with or without BRESHECK syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0100213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100213",
            "name": "IFAP syndrome with or without BRESHECK syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0100213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100213",
            "name": "IFAP/BRESHECK syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0100213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100213",
            "name": "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0100213",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100213",
            "name": "ichthyosis follicularis atrichia photophobia syndrome",
            "description": ""
        },
        {
            "id": "MIM:308205",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/308205",
            "name": "IFAP syndrome 1, with or without Bresheck syndrome",
            "description": "IFAP syndrome 1, with or without Bresheck syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111821"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111821",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111821",
            "categories": []
        },
        {
            "id": "MONDO:0100213",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100213",
            "categories": []
        },
        {
            "id": "MIM:308205",
            "database": "MIM",
            "url": "https://www.omim.org/entry/308205",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CHX6-1",
            "uniprot_ac": "Q8CHX6",
            "uniprot_id": "MBTP2_MOUSE",
            "refseq_ac": "NP_758511",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-bound transcription factor site-2 protease",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.85",
                    "type": "synonym"
                },
                {
                    "name": "Endopeptidase S2P",
                    "type": "synonym"
                },
                {
                    "name": "S2P endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "endopeptidase S2P",
                    "type": "synonym"
                },
                {
                    "name": "membrane-bound transcription factor protease, site 2",
                    "type": "synonym"
                },
                {
                    "name": "membrane-bound transcription factor site-2 protease",
                    "type": "synonym"
                },
                {
                    "name": "site-2 protease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mbtps2",
                    "type": "recommended"
                },
                {
                    "name": "9630032G22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mbtps2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CHX6-1",
            "evidence": [
                {
                    "id": "0111821",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111821"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43462-1",
            "uniprot_ac": "O43462",
            "uniprot_id": "MBTP2_HUMAN",
            "refseq_ac": "NP_056968",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Membrane-bound transcription factor site-2 protease",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.85",
                    "type": "synonym"
                },
                {
                    "name": "Endopeptidase S2P",
                    "type": "synonym"
                },
                {
                    "name": "SREBPs intramembrane protease",
                    "type": "synonym"
                },
                {
                    "name": "Sterol regulatory element-binding proteins intramembrane protease",
                    "type": "synonym"
                },
                {
                    "name": "endopeptidase S2P",
                    "type": "synonym"
                },
                {
                    "name": "keratosis follicularis spinulosa decalvans",
                    "type": "synonym"
                },
                {
                    "name": "membrane-bound transcription factor protease, site 2",
                    "type": "synonym"
                },
                {
                    "name": "membrane-bound transcription factor site-2 protease",
                    "type": "synonym"
                },
                {
                    "name": "site-2 protease",
                    "type": "synonym"
                },
                {
                    "name": "sterol regulatory element-binding proteins intramembrane protease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MBTPS2",
                    "type": "recommended"
                },
                {
                    "name": "BRESEK",
                    "type": "synonym"
                },
                {
                    "name": "IFAP",
                    "type": "synonym"
                },
                {
                    "name": "KFSDX",
                    "type": "synonym"
                },
                {
                    "name": "KFSD",
                    "type": "synonym"
                },
                {
                    "name": "MBTPS2",
                    "type": "synonym"
                },
                {
                    "name": "OI19",
                    "type": "synonym"
                },
                {
                    "name": "OLMSX",
                    "type": "synonym"
                },
                {
                    "name": "S2P",
                    "type": "synonym"
                }
            ],
            "record_id": "O43462-1",
            "evidence": [
                {
                    "id": "308205",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/308205"
                },
                {
                    "id": "0111821",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111821"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C6P6-1",
            "uniprot_ac": "P0C6P6",
            "uniprot_id": "TYY2_RAT",
            "refseq_ac": "NP_001364162",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor YY2",
                    "type": "recommended"
                },
                {
                    "name": "Transcription factor YY2-like",
                    "type": "synonym"
                },
                {
                    "name": "YY-2",
                    "type": "synonym"
                },
                {
                    "name": "Yin and yang 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor YY2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mbtps2",
                    "type": "recommended"
                },
                {
                    "name": "Yy2",
                    "type": "recommended"
                },
                {
                    "name": "Mbtps2",
                    "type": "synonym"
                },
                {
                    "name": "YY-2",
                    "type": "synonym"
                },
                {
                    "name": "Yy2",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C6P6-1",
            "evidence": [
                {
                    "id": "0111821",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111821"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111821"
}