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Lung terms (3/3): add new terms associated with genes
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Note: one term was added as a synonym for an existing term:
Immunodeficiency, autosomal recessive due to ZNFX1 deficiency, I believe is equivalent to OMIM:619644

close #5261
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@nicolevasilevsky
nicolevasilevsky committed Aug 11, 2022
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Expand Up @@ -456450,6 +456450,135 @@ xref: UMLS:576470 {source="MONDO:equivalentTo"}
is_a: MONDO:0000471 {source="SCTID:60232001"} ! tricuspid valve disorder
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5235

[Term]
id: MONDO:0800133
name: autoinflammatory syndrome due to CEBPE gain-of-function
def: "An autoinflammatory disease with defective neutrophil function caused by a homozygous Arg219His mutation in the transcription factor C/EBPε." [PMID:31201888]
is_a: MONDO:0019751 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! autoinflammatory syndrome
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800134
name: primary immunodeficiency due to calcium channel deficiency
def: "An immunodeficiency disease caused by a variation in the CRACR2A gene." [PMID:34908525, PMID:35151051]
is_a: MONDO:0021094 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! immunodeficiency disease
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800135
name: congenital emphysematous lung disease due to Filamin A loss-of-function variant
def: "Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype." [PMID:30922288, PMID:33734874]
is_a: MONDO:0017014 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! interstitial lung disease specific to childhood
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800136
name: COPG1 deficiency
def: "Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene." [PMID:33529166]
is_a: MONDO:0018814 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! non-SCID combined immunodeficiency
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800137
name: early-onset pulmonary and cutaneous vasculitis
def: "A monogenic autoinflammatory disorder caused by a de novo activating mutation, p.Tyr515∗, in hematopoietic cell kinase (HCK). The disease is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis." [PMID:34536415]
is_a: MONDO:0019751 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! autoinflammatory syndrome
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800138
name: multisystem autoimmune disease due to IKAROS gain of function
def: "An autoimmune disease caused by a loss-of-function variation in the IKZF1/IKAROSgene. Leukocytes of patients exhibited specific defects including impaired IL-2 production by T cells, T helper (TH) skewing toward TH2, low numbers of regulatory T cells (Treg), eosinophilia, and abnormal PC proliferation." [PMID:35333544]
is_a: MONDO:0007179 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! autoimmune disease
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800139
name: HELIOS deficiency
def: "A non-severe combined immunodeficiency caused by a loss-of-function variation in the IKZF2 gene that is characterized by recurrent upper respiratory infections, thrush and mucosal ulcers, and chronic lymphadenopathy." [PMID:3482625, PMID:34826260, PMID:34920454]
is_a: MONDO:0018814 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! non-SCID combined immunodeficiency
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800140
name: ITPKB deficiency
def: "Any non-severe combined immunodeficiency in which the cause of the disease is variation in the ITPKB gene." [PMID:31987846]
is_a: MONDO:0018814 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! non-SCID combined immunodeficiency
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800141
name: MAN2B2 deficiency
def: "Any non-severe combined immunodeficiency in which the cause of the disease is variation in the MAN2B2 gene." [MONDO:patterns/disease_series_by_gene]
is_a: MONDO:0018814 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! non-SCID combined immunodeficiency
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800142
name: chronic mucocutaneous candidiasis and connective tissue disease due to JNK1 haploinsufficiency
def: "An immunodeficiency disease caused by a variation in MAPK8, the gene encoding c-Jun N-terminal kinase 1 (JNK1), that is characterized by chronic mucocutaneous candidiasis and a connective tissue disorder that clinically overlaps with Ehlers-Danlos syndrome (EDS)." [PMID:31784499]
synonym: "JNK1 haploinsufficiency (causing combination of chronic mucocutaneous candidiasis and connective tissue disease)" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
is_a: MONDO:0021094 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! immunodeficiency disease
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800143
name: cytomegalovirus pneumonia due to NOS2 deficiency
def: "Cytomegalovirus pneumonia due to variant in the NOS2 gene." [PMID:31995689]
is_a: MONDO:0024354 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! cytomegalovirus pneumonia
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800144
name: autoimmune pulmonary disease due to PD-1 deficiency
def: "An autoimmune disease that is characterized by a lack of PD-1 on patient peripheral blood mononuclear cells (PBMCs) and reduced IFN production in response to mycobacterial stimuli." [PMID:34183838]
is_a: MONDO:0007179 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! autoimmune disease
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800145
name: polymerase delta deficiency
def: "Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene." [PMID:31449058]
is_a: MONDO:0018814 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! non-SCID combined immunodeficiency
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800146
name: agammaglobulinemia, autosomal recessive, due to BOB1 deficiency
def: "Any agammaglobulinemia in which the cause of the disease is autosomal recessive deficiency in the BOB1 gene." [PMID:33571536]
is_a: MONDO:0015977 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! agammaglobulinemia
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800147
name: hemophagocytic lymphohistiocytosis due to RhoG deficiency
def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is an autosomal recessive variation in the RHOG gene." [PMID:33513601]
is_a: MONDO:0015541 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! genetic hemophagocytic lymphohistiocytosis
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800148
name: autoinflammatory syndrome due to TBK1 deficiency
def: "Any autoinflammatory syndrome in which the cause of the disease is an autosomal recessive variation in the TBK1 gene." [PMID:34363755]
is_a: MONDO:0019751 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! autoinflammatory syndrome
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800149
name: immunodeficiency, common variable, due to APRIL deficiency
def: "Any commonn variable immunodeficiency in which the cause of the disease is an autosomal recessive variation in the TNFS13 gene." [PMID:32298700]
is_a: MONDO:0015517 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! common variable immunodeficiency
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:0800150
name: immunodeficiency 91 and hyperinflammation
def: "An autosomal recessive immunodeficiency caused by a variation in the ZNFX1 gene, characterized by severe infections by both RNA and DNA viruses and virally triggered inflammatory episodes with hemophagocytic lymphohistiocytosis-like disease, early-onset seizures, and renal and lung disease." [PMID:33872655]
synonym: "Immunodeficiency, autosomal recessive due to ZNFX1 deficiency" EXACT [https://orcid.org/0000-0002-7371-8158, https://orcid.org/0000-0003-0113-912X]
xref: OMIM:619644 {source="MONDO:equivalentTo"}
is_a: MONDO:0021094 {source="https://orcid.org/0000-0002-7371-8158", source="https://orcid.org/0000-0003-0113-912X"} ! immunodeficiency disease
relationship: seeAlso https://github.com/monarch-initiative/mondo/issues/5261

[Term]
id: MONDO:8000000
name: infectious discitis
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