TaoMedAI/RareMedData huggingface dataset:
Gene: MTMR14
Phenotype: EMG: myotonic discharges (HP:0100284)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: EMG: positive sharp waves (HP:0030007)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Large for gestational age (HP:0001520)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Miscarriage (HP:0005268)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Sleepy facial expression (HP:0005335)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Ptosis (HP:0000508)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: Ptosis (HP:0000508)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: MTMR14
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: AD-CNM; Autosomal dominant centronuclear myopathy (ORPHA:169189)
Gene: MTMR14
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: MYOPATHY, CENTRONUCLEAR, 1 (OMIM:160150)
Gene: DCLRE1C
Phenotype: Sepsis (HP:0100806)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Sepsis (HP:0100806)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Desquamation of skin soon after birth (HP:0007549)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Lymphoma (HP:0002665)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Recurrent gastroenteritis (HP:0031123)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Oral ulcer (HP:0000155)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Generalized lymphadenopathy (HP:0008940)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Lymph node hypoplasia (HP:0002732)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Diarrhea (HP:0002014)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Pneumonia (HP:0002090)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Pneumonia (HP:0002090)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Pneumonia (HP:0002090)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Infantile onset (HP:0003593)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Recurrent upper and lower respiratory tract infections (HP:0200117)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: BCGitis (HP:0020086)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Vitiligo (HP:0001045)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Erythroderma (HP:0001019)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Erythroderma (HP:0001019)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Thickened skin (HP:0001072)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Thickened skin (HP:0001072)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Verrucae (HP:0200043)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Fever (HP:0001945)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Anemia (HP:0001903)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Anemia (HP:0001903)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Abnormal lymphocyte morphology (HP:0004332)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Juvenile rheumatoid arthritis (HP:0005681)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Absent tonsils (HP:0030813)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Decreased CD3+ T cell proportion (HP:0045080)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Genital ulcers (HP:0003249)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Pruritus (HP:0000989)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Skin rash (HP:0000988)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Dry skin (HP:0000958)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Edema (HP:0000969)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Alopecia (HP:0001596)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Alopecia (HP:0001596)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Failure to thrive (HP:0001508)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Otitis media (HP:0000388)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Otitis media (HP:0000388)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Autoimmunity (HP:0002960)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Aplasia of the thymus (HP:0005359)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Severe B lymphocytopenia (HP:0005365)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Abnormally low T cell receptor excision circle level (HP:0031545)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Splenomegaly (HP:0001744)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Short toe (HP:0001831)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Recurrent opportunistic infections (HP:0005390)
Associated disease: SCID due to ARTEMIS deficiency; Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to DCLRE1C deficiency; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type; SCID, Athabascan type; SCID, Athabaskan type (ORPHA:275)
Gene: DCLRE1C
Phenotype: Erythematous papule (HP:0030350)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: DCLRE1C
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: DCLRE1C
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Gene: DCLRE1C
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: OMENN SYNDROME (OMIM:603554)
Gene: INF2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: INF2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 (OMIM:613237)
Gene: INF2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: INF2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: INF2
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 (OMIM:613237)
Gene: INF2
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: INF2
Phenotype: Proteinuria (HP:0000093)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 (OMIM:613237)
Gene: INF2
Phenotype: Proteinuria (HP:0000093)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 (OMIM:613237)
Gene: INF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Gene: INF2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: INF2
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: INF2
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)