TaoMedAI/RareMedData huggingface dataset:
Gene: IL2RG
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Cough (HP:0012735)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Abnormal total natural killer cell count (HP:0040089)
Associated disease: COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:312863)
Gene: IL2RG
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Absent tonsils (HP:0030813)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Decreased CD3+ T cell proportion (HP:0045080)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Pruritus (HP:0000989)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Skin rash (HP:0000988)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Skin rash (HP:0000988)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Dry skin (HP:0000958)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Jaundice (HP:0000952)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Edema (HP:0000969)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Alopecia (HP:0001596)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Decreased proportion of naive T cells (HP:0031397)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Sinusitis (HP:0000246)
Associated disease: COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:312863)
Gene: IL2RG
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Failure to thrive (HP:0001508)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:312863)
Gene: IL2RG
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Otitis media (HP:0000388)
Associated disease: COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:312863)
Gene: IL2RG
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Recurrent Haemophilus influenzae infections (HP:0005376)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:312863)
Gene: IL2RG
Phenotype: Recurrent herpes (HP:0005353)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Abnormally low T cell receptor excision circle level (HP:0031545)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Decreased CD8+ T cell proportion (HP:0005415)
Associated disease: COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:312863)
Gene: IL2RG
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Decreased circulating IgE concentration (HP:0005479)
Associated disease: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED (OMIM:300400)
Gene: IL2RG
Phenotype: Severe recurrent varicella (HP:0005428)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL2RG
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Short toe (HP:0001831)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Recurrent opportunistic infections (HP:0005390)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: T-B+ severe combined immunodeficiency, X-linked; SCIDX1; T-B+ severe combined immunodeficiency due to gamma chain deficiency; T-B+ SCID due to gamma chain deficiency (ORPHA:276)
Gene: IL2RG
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL2RG
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: IL2RG
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6
Phenotype: Cerebral arteriovenous malformation (HP:0002408)
Associated disease: ARTERIOVENOUS MALFORMATIONS OF THE BRAIN (OMIM:108010)
Gene: IL6
Phenotype: Intestinal fistula (HP:0100819)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: IL6
Phenotype: Polyphagia (HP:0002591)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: IL6
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: IL6
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Arthritis (HP:0001369)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Joint swelling (HP:0001386)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Neoplasm (HP:0002664)
Associated disease: KAPOSI SARCOMA, SUSCEPTIBILITY TO (OMIM:148000)
Gene: IL6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IL6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KAPOSI SARCOMA, SUSCEPTIBILITY TO (OMIM:148000)
Gene: IL6
Phenotype: Anterior uveitis (HP:0012122)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Decreased level of 1,5 anhydroglucitol in serum (HP:0410050)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: IL6
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: ARTERIOVENOUS MALFORMATIONS OF THE BRAIN (OMIM:108010)
Gene: IL6
Phenotype: Polyuria (HP:0000103)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: IL6
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: IL6
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Abdominal pain (HP:0002027)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: IL6
Phenotype: Diarrhea (HP:0002014)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: IL6
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IL6
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IL6
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Elevated pulmonary artery pressure (HP:0004890)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Kaposi's sarcoma (HP:0100726)
Associated disease: KAPOSI SARCOMA, SUSCEPTIBILITY TO (OMIM:148000)
Gene: IL6
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: KAPOSI SARCOMA, SUSCEPTIBILITY TO (OMIM:148000)
Gene: IL6
Phenotype: Aphthous ulcer (HP:0032154)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: IL6
Phenotype: Non-infectious meningitis (HP:0033430)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IL6
Phenotype: Fever (HP:0001945)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Polydipsia (HP:0001959)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: IL6
Phenotype: Ketoacidosis (HP:0001993)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: IL6
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: IL6
Phenotype: Juvenile rheumatoid arthritis (HP:0005681)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: IL6
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: IL6
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Crohn's disease (HP:0100280)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: IL6
Phenotype: Ulcerative colitis (HP:0100279)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: IL6
Phenotype: Skin rash (HP:0000988)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Edema (HP:0000969)
Associated disease: KAPOSI SARCOMA, SUSCEPTIBILITY TO (OMIM:148000)
Gene: IL6
Phenotype: Osteopenia (HP:0000938)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Arthralgia (HP:0002829)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Growth delay (HP:0001510)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Growth delay (HP:0001510)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: IL6
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: IL6
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Autoimmunity (HP:0002960)
Associated disease: TYPE 1 DIABETES MELLITUS (OMIM:222100)
Gene: IL6
Phenotype: Pericarditis (HP:0001701)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: IL6
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6
Phenotype: Weight loss (HP:0001824)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: IL6
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: IL6R
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE (OMIM:618944)
Gene: IL6R
Phenotype: Reduced circulating C-reactive protein concecntration (HP:0032437)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE (OMIM:618944)
Gene: IL6R
Phenotype: Cutaneous abscess (HP:0031292)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE (OMIM:618944)
Gene: IL6R
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE (OMIM:618944)
Gene: IL6R
Phenotype: Inappropriate absence of fever (HP:0033104)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE (OMIM:618944)
Gene: IL6R
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE (OMIM:618944)
Gene: IL6R
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE (OMIM:618944)
Gene: IL6R
Phenotype: Cellulitis (HP:0100658)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE (OMIM:618944)
Gene: IL6R
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE (OMIM:618944)
Gene: IL6R
Phenotype: Increased circulating interleukin 6 concentration (HP:0030783)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE (OMIM:618944)
Gene: IL6R
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE (OMIM:618944)
Gene: IL6R
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE (OMIM:618944)
Gene: IL6R
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE (OMIM:618944)
Gene: IL6R
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE (OMIM:618944)
Gene: IL6R
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE (OMIM:618944)
Gene: IL6ST
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Motor delay (HP:0001270)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Clubbing (HP:0001217)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Stillbirth (HP:0003826)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)