{
    "disease_id": "DOID:0061060",
    "recommended_name": {
        "id": "DOID:0061060",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061060",
        "name": "immunodeficiency 90",
        "description": "A primary immunodeficiency disease that is characterized by infancy or early childhood with recurrent fevers and bacterial or viral infections associated with central nervous system symptoms, including irritability, drowsiness, variable seizures, and white matter abnormalities on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the FADD gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0061060",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061060",
            "name": "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction",
            "description": ""
        },
        {
            "id": "MONDO:0013408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013408",
            "name": "FADD-related immunodeficiency",
            "description": "A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance."
        },
        {
            "id": "MONDO:0013408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013408",
            "name": "FADD-related immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013408",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013408",
            "name": "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction",
            "description": ""
        },
        {
            "id": "MIM:613759",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613759",
            "name": "Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations",
            "description": "Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061060"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061060",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061060",
            "categories": []
        },
        {
            "id": "MONDO:0013408",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013408",
            "categories": []
        },
        {
            "id": "MIM:613759",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613759",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IXF0-1",
            "uniprot_ac": "A0A0R4IXF0",
            "uniprot_id": "A0A0R4IXF0_DANRE",
            "refseq_ac": "NP_001373289",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAS-associated death domain protein",
                    "type": "recommended"
                },
                {
                    "name": "FAS-associated death domain protein",
                    "type": "synonym"
                },
                {
                    "name": "FAS-associating death domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Fas-associated death domain protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fadd",
                    "type": "recommended"
                },
                {
                    "name": "fadd",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IXF0-1",
            "evidence": [
                {
                    "id": "0061060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61160-1",
            "uniprot_ac": "Q61160",
            "uniprot_id": "FADD_MOUSE",
            "refseq_ac": "NP_034305",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAS-associated death domain protein",
                    "type": "recommended"
                },
                {
                    "name": "FAS-associated death domain protein",
                    "type": "synonym"
                },
                {
                    "name": "FAS-associating death domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Fas (TNFRSF6)-associated via death domain",
                    "type": "synonym"
                },
                {
                    "name": "Fas-associating protein with death domain",
                    "type": "synonym"
                },
                {
                    "name": "Mediator of receptor induced toxicity",
                    "type": "synonym"
                },
                {
                    "name": "mediator of receptor induced toxicity",
                    "type": "synonym"
                },
                {
                    "name": "protein FADD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fadd",
                    "type": "recommended"
                },
                {
                    "name": "Fadd",
                    "type": "synonym"
                },
                {
                    "name": "Mort1/FADD",
                    "type": "synonym"
                },
                {
                    "name": "Mort1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61160-1",
            "evidence": [
                {
                    "id": "0061060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13158-1",
            "uniprot_ac": "Q13158",
            "uniprot_id": "FADD_HUMAN",
            "refseq_ac": "NP_003815",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAS-associated death domain protein",
                    "type": "recommended"
                },
                {
                    "name": "FAS-associated death domain protein",
                    "type": "synonym"
                },
                {
                    "name": "FAS-associating death domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Fas (TNFRSF6)-associated via death domain",
                    "type": "synonym"
                },
                {
                    "name": "Fas-associating death domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Fas-associating protein with death domain",
                    "type": "synonym"
                },
                {
                    "name": "Growth-inhibiting gene 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "Mediator of receptor induced toxicity",
                    "type": "synonym"
                },
                {
                    "name": "growth-inhibiting gene 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "mediator of receptor-induced toxicity",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FADD",
                    "type": "recommended"
                },
                {
                    "name": "FADD",
                    "type": "synonym"
                },
                {
                    "name": "GIG3",
                    "type": "synonym"
                },
                {
                    "name": "IMD90",
                    "type": "synonym"
                },
                {
                    "name": "MORT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13158-1",
            "evidence": [
                {
                    "id": "613759",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613759"
                },
                {
                    "id": "0061060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R2E7-1",
            "uniprot_ac": "Q8R2E7",
            "uniprot_id": "Q8R2E7_RAT",
            "refseq_ac": "NP_690920",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "FAS-associated death domain protein",
                    "type": "recommended"
                },
                {
                    "name": "FAS-associated death domain protein",
                    "type": "synonym"
                },
                {
                    "name": "FAS-associating death domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Fas (TNFRSF6)-associated via death domain",
                    "type": "synonym"
                },
                {
                    "name": "protein FADD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fadd",
                    "type": "recommended"
                },
                {
                    "name": "Fadd",
                    "type": "synonym"
                },
                {
                    "name": "Mort1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R2E7-1",
            "evidence": [
                {
                    "id": "0061060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51489-1",
            "uniprot_ac": "P51489",
            "uniprot_id": "OPSD_RAT",
            "refseq_ac": "NP_254276",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rhodopsin",
                    "type": "recommended"
                },
                {
                    "name": "Rhodopsin (retinitis pigmentosa 4, autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "rhodopsin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rho",
                    "type": "recommended"
                },
                {
                    "name": "Rho",
                    "type": "synonym"
                }
            ],
            "record_id": "P51489-1",
            "evidence": [
                {
                    "id": "0061060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061060"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3B4-1",
            "uniprot_ac": "Q9V3B4",
            "uniprot_id": "FADD_DROME",
            "refseq_ac": "NP_651006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fas-associated death domain protein",
                    "type": "recommended"
                },
                {
                    "name": "BG4",
                    "type": "synonym"
                },
                {
                    "name": "CG12297-PA",
                    "type": "synonym"
                },
                {
                    "name": "Death domain-containing adapter protein BG4",
                    "type": "synonym"
                },
                {
                    "name": "FAS-associating death domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Fadd-PA",
                    "type": "synonym"
                },
                {
                    "name": "Fas-associated death domain ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Fas-associated death domain",
                    "type": "synonym"
                },
                {
                    "name": "dFADD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fadd",
                    "type": "recommended"
                },
                {
                    "name": "BG4_DROME",
                    "type": "synonym"
                },
                {
                    "name": "BG4",
                    "type": "synonym"
                },
                {
                    "name": "CG12297",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12297",
                    "type": "synonym"
                },
                {
                    "name": "FADD",
                    "type": "synonym"
                },
                {
                    "name": "FAD",
                    "type": "synonym"
                },
                {
                    "name": "Fadd",
                    "type": "synonym"
                },
                {
                    "name": "dFADD",
                    "type": "synonym"
                },
                {
                    "name": "dFadd",
                    "type": "synonym"
                },
                {
                    "name": "dfadd",
                    "type": "synonym"
                },
                {
                    "name": "fadd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3B4-1",
            "evidence": [
                {
                    "id": "0061060",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061060"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061060"
}