TaoMedAI/RareMedData huggingface dataset:
Gene: CCN2
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCN2
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Mucosal telangiectasiae (HP:0100579)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCN2
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCN2
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Undulate ribs (HP:0010561)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCN2
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Hypertensive crisis (HP:0100735)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCN2
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCN2
Phenotype: Pterygium (HP:0001059)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCN2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCN2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Carious teeth (HP:0000670)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Short humerus (HP:0005792)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Short femur (HP:0003097)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCN2
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Xerostomia (HP:0000217)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Dyspareunia (HP:0030016)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Flat face (HP:0012368)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Low-set ears (HP:0000369)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: High forehead (HP:0000348)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Micrognathia (HP:0000347)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Tibial bowing (HP:0002982)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Micromelia (HP:0002983)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Femoral bowing (HP:0002980)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Abnormal bowel sounds (HP:0030142)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Radial bowing (HP:0002986)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCN2
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CTH
Phenotype: Seizure (HP:0001250)
Associated disease: Gamma-cystathionase deficiency; Cystathioninuria; Cystathionase deficiency; Cystathionine gamma-lyase deficiency syndrome (ORPHA:212)
Gene: CTH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Gamma-cystathionase deficiency; Cystathioninuria; Cystathionase deficiency; Cystathionine gamma-lyase deficiency syndrome (ORPHA:212)
Gene: CTH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CYSTATHIONINURIA (OMIM:219500)
Gene: CTH
Phenotype: Tremor (HP:0001337)
Associated disease: Gamma-cystathionase deficiency; Cystathioninuria; Cystathionase deficiency; Cystathionine gamma-lyase deficiency syndrome (ORPHA:212)
Gene: CTH
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Gamma-cystathionase deficiency; Cystathioninuria; Cystathionase deficiency; Cystathionine gamma-lyase deficiency syndrome (ORPHA:212)
Gene: CTH
Phenotype: Cystathioninuria (HP:0003153)
Associated disease: CYSTATHIONINURIA (OMIM:219500)
Gene: CTH
Phenotype: Cystathioninuria (HP:0003153)
Associated disease: Gamma-cystathionase deficiency; Cystathioninuria; Cystathionase deficiency; Cystathionine gamma-lyase deficiency syndrome (ORPHA:212)
Gene: CTH
Phenotype: Cystathioninemia (HP:0003286)
Associated disease: Gamma-cystathionase deficiency; Cystathioninuria; Cystathionase deficiency; Cystathionine gamma-lyase deficiency syndrome (ORPHA:212)
Gene: CTH
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Gamma-cystathionase deficiency; Cystathioninuria; Cystathionase deficiency; Cystathionine gamma-lyase deficiency syndrome (ORPHA:212)
Gene: CTH
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Gamma-cystathionase deficiency; Cystathioninuria; Cystathionase deficiency; Cystathionine gamma-lyase deficiency syndrome (ORPHA:212)
Gene: CTLA4
Phenotype: Shivering (HP:0025144)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Chills (HP:0025143)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Lymphocytic infiltration of the colorectal mucosa (HP:0032216)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Lymphocytic infiltration of the colorectal mucosa (HP:0032216)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Anti-proteinase 3 antibody positivity (HP:0033557)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Anti-myeloperoxidase antibody positivity (HP:0033559)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Cytoplasmic antineutrophil antibody positivity (HP:0032230)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Sepsis (HP:0100806)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Sepsis (HP:0100806)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Glomerulopathy (HP:0100820)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Meningitis (HP:0001287)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Atrophic gastritis (HP:0002582)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Atrophic gastritis (HP:0002582)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Seizure (HP:0001250)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: CTLA4
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Seizure (HP:0001250)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Pulmonary nodule (HP:0033608)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Proteinuria (HP:0000093)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Ureteral stenosis (HP:0000071)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Arthritis (HP:0001369)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Arthritis (HP:0001369)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Arthritis (HP:0001369)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: CTLA4
Phenotype: Prostatitis (HP:0000024)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Diffuse skin atrophy (HP:0007488)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: CTLA4
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Malar rash (HP:0025300)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: CTLA4
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Lymphoma (HP:0002665)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Lymphoma (HP:0002665)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Lymphoma (HP:0002665)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Tremor (HP:0001337)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: CTLA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HASHIMOTO THYROIDITIS (OMIM:140300)
Gene: CTLA4
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Vasculitis (HP:0002633)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Cutaneous T-cell lymphoma (HP:0012192)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Cutaneous T-cell lymphoma (HP:0012192)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Erythematous macule (HP:0025475)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Nephritis (HP:0000123)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: CTLA4
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Diffuse alveolar hemorrhage (HP:0025420)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Gene: CTLA4
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Systemic lupus erythematosus (HP:0002725)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: CTLA4
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Myalgia (HP:0003326)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Diarrhea (HP:0002014)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Diarrhea (HP:0002014)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Scleritis (HP:0100532)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Inflammatory abnormality of the eye (HP:0100533)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Pneumonia (HP:0002090)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Hypothermia (HP:0002045)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CTLA4
Phenotype: Pleuritis (HP:0002102)
Associated disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Gene: CTLA4
Phenotype: Pleuritis (HP:0002102)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Abnormal pleura morphology (HP:0002103)
Associated disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Gene: CTLA4
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Gene: CTLA4
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CTLA-4 haploinsufficiency with autoimmune infiltration disease; CHAI (ORPHA:436159)
Gene: CTLA4
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Gene: CTLA4
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)