{ "disease_id": "DOID:0061069", "recommended_name": { "id": "DOID:0061069", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0061069", "name": "immunodeficiency 99", "description": "A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11." }, "synonyms": [ { "id": "DOID:0061069", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0061069", "name": "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias", "description": "" }, { "id": "MONDO:0030798", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030798", "name": "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias", "description": "An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Laboratory studies reveal hypogammaglobulinemia with decreased memory B cells that show impaired class-switch recombination (CSR) and decreased somatic hypermutation (SHM). Due to abnormal antibody production and impaired self-tolerance, patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. There are also defects in the T-cell compartment." }, { "id": "MONDO:0030798", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030798", "name": "IMD99", "description": "" }, { "id": "MONDO:0030798", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030798", "name": "immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias", "description": "" }, { "id": "MIM:619846", "resource": "MIM", "url": "https://www.omim.org/entry/619846", "name": "Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias", "description": "Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias" } ], "children": [], "id_list": [ "DOID:0061069" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0061069", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0061069", "categories": [] }, { "id": "MONDO:0030798", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030798", "categories": [] }, { "id": "MIM:619846", "database": "MIM", "url": "https://www.omim.org/entry/619846", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q9VHJ7-1", "uniprot_ac": "Q9VHJ7", "uniprot_id": "Q9VHJ7_DROME", "refseq_ac": "NP_649847", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG11964-PA", "resource": "RefSeq", "type": "synonym" }, { "name": "LD41978p", "resource": "UniProtKB", "type": "synonym" }, { "name": "uncharacterized protein", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Dmel\\CG11964", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG11964", "resource": "RefSeq", "type": "synonym" }, { "name": "CG11964", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG11964", "resource": "RefSeq", "type": "synonym" }, { "name": "Dmel_CG11964", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0061069", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0061069" } ] }, { "uniprot_canonical_ac": "Q9CWL8-1", "uniprot_ac": "Q9CWL8", "uniprot_id": "CTBL1_MOUSE", "refseq_ac": "NP_079956", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Beta-catenin-like protein 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "NAP", "resource": "UniProtKB", "type": "synonym" }, { "name": "Nuclear-associated protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "beta-catenin-like protein 1", "resource": "RefSeq", "type": "synonym" }, { "name": "nuclear protein NAP; nuclear-associated protein", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Ctnnbl1", "resource": "UniProtKB", "type": "recommended" }, { "name": "5730471K09Rik; NAP; NYD-SP19; P14L", "resource": "RefSeq", "type": "synonym" }, { "name": "Ctnnbl1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0061069", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0061069" } ] }, { "uniprot_canonical_ac": "Q8WYA6-1", "uniprot_ac": "Q8WYA6", "uniprot_id": "CTBL1_HUMAN", "refseq_ac": "NP_001268424", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Beta-catenin-like protein 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "NAP", "resource": "UniProtKB", "type": "synonym" }, { "name": "Nuclear-associated protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "Testis development protein NYD-SP19", "resource": "UniProtKB", "type": "synonym" }, { "name": "beta-catenin-like protein 1 isoform 2", "resource": "RefSeq", "type": "synonym" }, { "name": "beta-catenin-like protein 1; nuclear associated protein; testis development protein NYD-SP19", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "CTNNBL1", "resource": "UniProtKB", "type": "recommended" }, { "name": "C20orf33; dJ633O20.1; IMD99; NAP; P14L; PP8304", "resource": "RefSeq", "type": "synonym" }, { "name": "C20orf33", "resource": "UniProtKB", "type": "synonym" }, { "name": "CTNNBL1", "resource": "RefSeq", "type": "synonym" }, { "name": "PP8304", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0061069", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0061069" }, { "id": "619846", "database": "MIM", "url": "https://www.omim.org/entry/619846" } ] }, { "uniprot_canonical_ac": "Q6P4V4-1", "uniprot_ac": "Q6P4V4", "uniprot_id": "Q6P4V4_DANRE", "refseq_ac": "NP_957160", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Beta-catenin-like protein 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Catenin, beta-like 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "beta-catenin-like protein 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "ctnnbl1", "resource": "UniProtKB", "type": "recommended" }, { "name": "ctnnbl1", "resource": "RefSeq", "type": "synonym" }, { "name": "zgc:77673", "resource": "RefSeq", "type": "synonym" }, { "name": "zgc:77673", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0061069", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0061069" } ] }, { "uniprot_canonical_ac": "Q4V8K2-1", "uniprot_ac": "Q4V8K2", "uniprot_id": "CTBL1_RAT", "refseq_ac": "NP_001020041", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Beta-catenin-like protein 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "NAP; nuclear-associated protein; beta catenin-like 1", "resource": "RefSeq", "type": "synonym" }, { "name": "NAP", "resource": "UniProtKB", "type": "synonym" }, { "name": "Nuclear-associated protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "beta-catenin-like protein 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Ctnnbl1", "resource": "UniProtKB", "type": "recommended" }, { "name": "Ctnnbl1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0061069", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0061069" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0061069" }