TaoMedAI/RareMedData huggingface dataset:
Gene: CCNF
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 (OMIM:619141)
Gene: CCNF
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 (OMIM:619141)
Gene: CCNF
Phenotype: Middle age onset (HP:0003596)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 (OMIM:619141)
Gene: CCNF
Phenotype: Late onset (HP:0003584)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 (OMIM:619141)
Gene: CCNF
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Fasciculations (HP:0002380)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 (OMIM:619141)
Gene: CCNF
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 (OMIM:619141)
Gene: CCNF
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Atypical behavior (HP:0000708)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 (OMIM:619141)
Gene: CCNF
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CD3D
Phenotype: Failure to thrive secondary to recurrent infections (HP:0008866)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 19 (OMIM:615617)
Gene: CD3D
Phenotype: Abnormal natural killer cell morphology (HP:0012176)
Associated disease: IMMUNODEFICIENCY 19 (OMIM:615617)
Gene: CD3D
Phenotype: Hepatitis (HP:0012115)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Recurrent infections (HP:0002719)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Recurrent abscess formation (HP:0002722)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 19 (OMIM:615617)
Gene: CD3D
Phenotype: Diarrhea (HP:0002014)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Pneumonia (HP:0002090)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Anorexia (HP:0002039)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Decreased circulating total IgA (HP:0003460)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 19 (OMIM:615617)
Gene: CD3D
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 19 (OMIM:615617)
Gene: CD3D
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Erythroderma (HP:0001019)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Fever (HP:0001945)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Protracted diarrhea (HP:0004385)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: IMMUNODEFICIENCY 19 (OMIM:615617)
Gene: CD3D
Phenotype: Decreased CD3+ T cell proportion (HP:0045080)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 19 (OMIM:615617)
Gene: CD3D
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Abnormal B cell morphology (HP:0002846)
Associated disease: IMMUNODEFICIENCY 19 (OMIM:615617)
Gene: CD3D
Phenotype: Otitis media (HP:0000388)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Recurrent herpes (HP:0005353)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 19 (OMIM:615617)
Gene: CD3D
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 19 (OMIM:615617)
Gene: CD3D
Phenotype: Recurrent candida infections (HP:0005401)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Severe viral infection (HP:0031691)
Associated disease: IMMUNODEFICIENCY 19 (OMIM:615617)
Gene: CD3D
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3D
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Abnormal circulating IgG concentration (HP:0410242)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Abnormal B cell count (HP:0010975)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Failure to thrive secondary to recurrent infections (HP:0008866)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Recurrent gastroenteritis (HP:0031123)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Hepatitis (HP:0012115)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Recurrent infections (HP:0002719)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Recurrent abscess formation (HP:0002722)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Diarrhea (HP:0002014)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Pneumonia (HP:0002090)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Anorexia (HP:0002039)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Decreased circulating total IgA (HP:0003460)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Decreased circulating total IgA (HP:0003460)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Erythroderma (HP:0001019)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Fever (HP:0001945)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Protracted diarrhea (HP:0004385)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Abnormal lymphocyte count (HP:0040088)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Decreased CD3+ T cell proportion (HP:0045080)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Decreased CD3+ T cell proportion (HP:0045080)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Abnormal T cell proliferation (HP:0031379)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Otitis media (HP:0000388)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Recurrent herpes (HP:0005353)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Recurrent candida infections (HP:0005401)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3E
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 18 (OMIM:615615)
Gene: CD3E
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD3G
Phenotype: Death in childhood (HP:0003819)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Recurrent gastroenteritis (HP:0031123)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Chronic oral candidiasis (HP:0009098)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Death in infancy (HP:0001522)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Abnormal B cell morphology (HP:0002846)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Anoperineal fistula (HP:0005218)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Decreased CD8+ T cell proportion (HP:0005415)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD3G
Phenotype: Chronic decreased circulating IgG2 (HP:0041063)
Associated disease: IMMUNODEFICIENCY 17 (OMIM:615607)
Gene: CD247
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: CD247
Phenotype: Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295)
Associated disease: IMMUNODEFICIENCY 25 (OMIM:610163)
Gene: CD247
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: CD247
Phenotype: Rheumatoid arthritis (HP:0001370)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: CD247
Phenotype: Arthritis (HP:0001369)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: CD247
Phenotype: Arthritis (HP:0001369)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: CD247
Phenotype: Joint swelling (HP:0001386)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: CD247
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: CD247
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: CD247
Phenotype: Abnormal hip joint morphology (HP:0001384)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: CD247
Phenotype: Failure to thrive secondary to recurrent infections (HP:0008866)
Associated disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta; T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta (ORPHA:169160)
Gene: CD247
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Gene: CD247
Phenotype: Hip osteoarthritis (HP:0008843)
Associated disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Rheumatoid factor-negative polyarticular JIA; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis (ORPHA:85408)
Gene: CD247
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 25 (OMIM:610163)