TaoMedAI/RareMedData huggingface dataset:
Gene: RAF1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: RAF1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAF1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAG1
Phenotype: Sepsis (HP:0100806)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Sepsis (HP:0100806)
Associated disease: CID with expansion of gamma delta T cells; Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with expansion of gamma delta T cells; CID due to partial RAG1 deficiency (ORPHA:231154)
Gene: RAG1
Phenotype: Meningitis (HP:0001287)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG1
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: CID with expansion of gamma delta T cells; Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with expansion of gamma delta T cells; CID due to partial RAG1 deficiency (ORPHA:231154)
Gene: RAG1
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (OMIM:233650)
Gene: RAG1
Phenotype: Abnormal B cell count (HP:0010975)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Arthritis (HP:0001369)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG1
Phenotype: Desquamation of skin soon after birth (HP:0007549)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Failure to thrive secondary to recurrent infections (HP:0008866)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (OMIM:233650)
Gene: RAG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Lymphoma (HP:0002665)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Recurrent enteroviral infections (HP:0002743)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: CID with expansion of gamma delta T cells; Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with expansion of gamma delta T cells; CID due to partial RAG1 deficiency (ORPHA:231154)
Gene: RAG1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Diarrhea (HP:0002014)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Diarrhea (HP:0002014)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG1
Phenotype: Purulent rhinitis (HP:0040334)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG1
Phenotype: Pneumonia (HP:0002090)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG1
Phenotype: Pneumonia (HP:0002090)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Pneumonia (HP:0002090)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (OMIM:233650)
Gene: RAG1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (OMIM:233650)
Gene: RAG1
Phenotype: Recurrent upper and lower respiratory tract infections (HP:0200117)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Erythroderma (HP:0001019)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Erythroderma (HP:0001019)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Thickened skin (HP:0001072)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Thickened skin (HP:0001072)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Fever (HP:0001945)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Fever (HP:0001945)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: CID with expansion of gamma delta T cells; Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with expansion of gamma delta T cells; CID due to partial RAG1 deficiency (ORPHA:231154)
Gene: RAG1
Phenotype: Anemia (HP:0001903)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Anemia (HP:0001903)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (OMIM:233650)
Gene: RAG1
Phenotype: Abnormal lymphocyte morphology (HP:0004332)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Protracted diarrhea (HP:0004385)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: CID with expansion of gamma delta T cells; Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with expansion of gamma delta T cells; CID due to partial RAG1 deficiency (ORPHA:231154)
Gene: RAG1
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG1
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Abnormal total natural killer cell count (HP:0040089)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Decreased CD3+ T cell proportion (HP:0045080)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Pallor (HP:0000980)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Pruritus (HP:0000989)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Skin rash (HP:0000988)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Dry skin (HP:0000958)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Edema (HP:0000969)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Mastoiditis (HP:0000265)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG1
Phenotype: Alopecia (HP:0001596)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Alopecia (HP:0001596)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Reduced antigen-specific T cell proliferation (HP:0031402)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Lymphadenitis (HP:0002840)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Otitis media (HP:0000388)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG1
Phenotype: Interstitial pneumonitis (HP:0006515)
Associated disease: CID with expansion of gamma delta T cells; Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with expansion of gamma delta T cells; CID due to partial RAG1 deficiency (ORPHA:231154)
Gene: RAG1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: CID with expansion of gamma delta T cells; Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with expansion of gamma delta T cells; CID due to partial RAG1 deficiency (ORPHA:231154)
Gene: RAG1
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (OMIM:233650)
Gene: RAG1
Phenotype: Severe B lymphocytopenia (HP:0005365)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CID with expansion of gamma delta T cells; Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with expansion of gamma delta T cells; CID due to partial RAG1 deficiency (ORPHA:231154)
Gene: RAG1
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG1
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: CID with expansion of gamma delta T cells; Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with expansion of gamma delta T cells; CID due to partial RAG1 deficiency (ORPHA:231154)
Gene: RAG1
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (OMIM:233650)
Gene: RAG1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG1
Phenotype: Short toe (HP:0001831)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Recurrent opportunistic infections (HP:0005390)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG1
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: CID with expansion of gamma delta T cells; Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with expansion of gamma delta T cells; CID due to partial RAG1 deficiency (ORPHA:231154)
Gene: RAG1
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG1
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Sepsis (HP:0100806)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Meningitis (HP:0001287)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG2
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG2
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (OMIM:233650)
Gene: RAG2
Phenotype: Abnormal B cell count (HP:0010975)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Arthritis (HP:0001369)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG2
Phenotype: Desquamation of skin soon after birth (HP:0007549)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Failure to thrive secondary to recurrent infections (HP:0008866)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS (OMIM:233650)
Gene: RAG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Lymphoma (HP:0002665)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Recurrent enteroviral infections (HP:0002743)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: SCID due to complete RAG1/2 deficiency; Severe combined immunodeficiency due to complete RAG1/2 deficiency (ORPHA:331206)
Gene: RAG2
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: RAG2
Phenotype: Diarrhea (HP:0002014)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: RAG2
Phenotype: Diarrhea (HP:0002014)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG2
Phenotype: Purulent rhinitis (HP:0040334)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG2
Phenotype: Pneumonia (HP:0002090)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE (OMIM:601457)
Gene: RAG2
Phenotype: Pneumonia (HP:0002090)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)