{
    "disease_id": "DOID:0112001",
    "recommended_name": {
        "id": "DOID:0112001",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112001",
        "name": "immunodeficiency 50",
        "description": "A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12."
    },
    "synonyms": [
        {
            "id": "DOID:0112001",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112001",
            "name": "CID due to Moesin deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112001",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112001",
            "name": "IMD50",
            "description": ""
        },
        {
            "id": "DOID:0112001",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112001",
            "name": "MSN-related combined immunodeficiency",
            "description": ""
        },
        {
            "id": "DOID:0112001",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112001",
            "name": "X-linked Moesin-associated immunodeficiency",
            "description": ""
        },
        {
            "id": "DOID:0112001",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112001",
            "name": "combined immunodeficiency due to Moesin deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112001",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112001",
            "name": "immunodeficiency 50 X linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010514",
            "name": "combined immunodeficiency due to moesin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010514",
            "name": "CID due to Moesin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010514",
            "name": "IMD50",
            "description": ""
        },
        {
            "id": "MONDO:0010514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010514",
            "name": "MSN-related combined immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010514",
            "name": "X-linked Moesin-associated immunodeficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010514",
            "name": "immunodeficiency 50",
            "description": ""
        },
        {
            "id": "MONDO:0010514",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010514",
            "name": "immunodeficiency type 50",
            "description": ""
        },
        {
            "id": "MIM:300988",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300988",
            "name": "Immunodeficiency 50",
            "description": "Immunodeficiency 50"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112001"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112001",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112001",
            "categories": []
        },
        {
            "id": "MONDO:0010514",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010514",
            "categories": []
        },
        {
            "id": "MIM:300988",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300988",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q66I42-1",
            "uniprot_ac": "Q66I42",
            "uniprot_id": "MOESA_DANRE",
            "refseq_ac": "NP_001004296",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Moesin a",
                    "type": "recommended"
                },
                {
                    "name": "Membrane-organizing extension spike protein",
                    "type": "synonym"
                },
                {
                    "name": "Moesin 1",
                    "type": "synonym"
                },
                {
                    "name": "membrane-organizing extension spike protein",
                    "type": "synonym"
                },
                {
                    "name": "moesin 1",
                    "type": "synonym"
                },
                {
                    "name": "moesin a",
                    "type": "synonym"
                },
                {
                    "name": "moesin1",
                    "type": "synonym"
                },
                {
                    "name": "msn1",
                    "type": "synonym"
                },
                {
                    "name": "radixin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "msna",
                    "type": "recommended"
                },
                {
                    "name": "cb567",
                    "type": "synonym"
                },
                {
                    "name": "msna",
                    "type": "synonym"
                },
                {
                    "name": "rdx",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb14b03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85640",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66I42-1",
            "evidence": [
                {
                    "id": "0112001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7F638-1",
            "uniprot_ac": "E7F638",
            "uniprot_id": "E7F638_DANRE",
            "refseq_ac": "NP_001243180",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Moesin b",
                    "type": "synonym"
                },
                {
                    "name": "moesin b",
                    "type": "synonym"
                },
                {
                    "name": "radixin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "msnb",
                    "type": "recommended"
                },
                {
                    "name": "msnb",
                    "type": "synonym"
                },
                {
                    "name": "msn",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F638-1",
            "evidence": [
                {
                    "id": "0112001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26041-1",
            "uniprot_ac": "P26041",
            "uniprot_id": "MOES_MOUSE",
            "refseq_ac": "NP_034963",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Moesin",
                    "type": "recommended"
                },
                {
                    "name": "Membrane-organizing extension spike protein",
                    "type": "synonym"
                },
                {
                    "name": "membrane-organizing extension spike protein",
                    "type": "synonym"
                },
                {
                    "name": "moesin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msn",
                    "type": "recommended"
                },
                {
                    "name": "Msn",
                    "type": "synonym"
                }
            ],
            "record_id": "P26041-1",
            "evidence": [
                {
                    "id": "0112001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26038-1",
            "uniprot_ac": "P26038",
            "uniprot_id": "MOES_HUMAN",
            "refseq_ac": "NP_002435",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Moesin",
                    "type": "recommended"
                },
                {
                    "name": "Membrane-organizing extension spike protein",
                    "type": "synonym"
                },
                {
                    "name": "epididymis luminal protein 70",
                    "type": "synonym"
                },
                {
                    "name": "membrane-organizing extension spike protein",
                    "type": "synonym"
                },
                {
                    "name": "moesin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSN",
                    "type": "recommended"
                },
                {
                    "name": "HEL70",
                    "type": "synonym"
                },
                {
                    "name": "IMD50",
                    "type": "synonym"
                },
                {
                    "name": "MSN",
                    "type": "synonym"
                }
            ],
            "record_id": "P26038-1",
            "evidence": [
                {
                    "id": "300988",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300988"
                },
                {
                    "id": "0112001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35763-1",
            "uniprot_ac": "O35763",
            "uniprot_id": "MOES_RAT",
            "refseq_ac": "NP_110490",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Moesin",
                    "type": "recommended"
                },
                {
                    "name": "Membrane-organizing extension spike protein",
                    "type": "synonym"
                },
                {
                    "name": "membrane-organizing extension spike protein",
                    "type": "synonym"
                },
                {
                    "name": "moesin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msn",
                    "type": "recommended"
                },
                {
                    "name": "Msn",
                    "type": "synonym"
                }
            ],
            "record_id": "O35763-1",
            "evidence": [
                {
                    "id": "0112001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112001"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46150-1",
            "uniprot_ac": "P46150",
            "uniprot_id": "MOEH_DROME",
            "refseq_ac": "NP_001245584",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Moesin/ezrin/radixin homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "CG10701-PL",
                    "type": "synonym"
                },
                {
                    "name": "Ezrin-Radixin-Moesin",
                    "type": "synonym"
                },
                {
                    "name": "Ezrin-moesin-radixin 1",
                    "type": "synonym"
                },
                {
                    "name": "Ezrin-moesin-radixin-1",
                    "type": "synonym"
                },
                {
                    "name": "Moe-PL",
                    "type": "synonym"
                },
                {
                    "name": "Moesin-like",
                    "type": "synonym"
                },
                {
                    "name": "Moesin",
                    "type": "synonym"
                },
                {
                    "name": "Protein D17",
                    "type": "synonym"
                },
                {
                    "name": "dMoesin",
                    "type": "synonym"
                },
                {
                    "name": "dmoesin",
                    "type": "synonym"
                },
                {
                    "name": "moesin, isoform L",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Moe",
                    "type": "recommended"
                },
                {
                    "name": "CG10701",
                    "type": "synonym"
                },
                {
                    "name": "D17",
                    "type": "synonym"
                },
                {
                    "name": "DMoe",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10701",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10701",
                    "type": "synonym"
                },
                {
                    "name": "Dmoe",
                    "type": "synonym"
                },
                {
                    "name": "EMR1",
                    "type": "synonym"
                },
                {
                    "name": "ERM",
                    "type": "synonym"
                },
                {
                    "name": "Emr1",
                    "type": "synonym"
                },
                {
                    "name": "GMA",
                    "type": "synonym"
                },
                {
                    "name": "Moes",
                    "type": "synonym"
                },
                {
                    "name": "Moe",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.155",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.157",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.159",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO03040301.161",
                    "type": "synonym"
                },
                {
                    "name": "dMoe",
                    "type": "synonym"
                },
                {
                    "name": "gma",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0067",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0323",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0404",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0415",
                    "type": "synonym"
                },
                {
                    "name": "moesin/ezrin/radixin homolog mRNA",
                    "type": "synonym"
                },
                {
                    "name": "moesin",
                    "type": "synonym"
                },
                {
                    "name": "moe",
                    "type": "synonym"
                },
                {
                    "name": "p-Moesin",
                    "type": "synonym"
                }
            ],
            "record_id": "P46150-1",
            "evidence": [
                {
                    "id": "0112001",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112001"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112001"
}