TaoMedAI/RareMedData huggingface dataset:
Gene: IL6ST
Phenotype: Neonatal death (HP:0003811)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Scoliosis (HP:0002650)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Scoliosis (HP:0002650)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Scoliosis (HP:0002650)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Scoliosis (HP:0002650)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Delayed umbilical cord separation (HP:0032434)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Macroglossia (HP:0000158)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Food allergy (HP:0500093)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Food allergy (HP:0500093)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Cutaneous abscess (HP:0031292)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Pulmonary pneumatocele (HP:0025419)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Deep philtrum (HP:0002002)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Dysphagia (HP:0002015)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Respiratory distress (HP:0002098)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Asthma (HP:0002099)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Asthma (HP:0002099)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Elevated circulating amyloid A concentration (HP:0033332)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Fibroma (HP:0010614)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Disseminated intravascular coagulation (HP:0005521)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Dental crowding (HP:0000678)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Short stature (HP:0004322)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Arthropathy (HP:0003040)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Short long bone (HP:0003026)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Fetal onset (HP:0011461)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Death in adolescence (HP:0011421)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Macrocephaly (HP:0000256)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Hip dislocation (HP:0002827)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: High palate (HP:0000218)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: High palate (HP:0000218)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Camptodactyly (HP:0012385)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Low-set ears (HP:0000369)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Hypertelorism (HP:0000316)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Keratitis (HP:0000491)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Anteverted nares (HP:0000463)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Short neck (HP:0000470)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Prominent forehead (HP:0011220)
Associated disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Gene: IL6ST
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL6ST
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IL6ST
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Gene: IL6ST
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IL6ST
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Gene: IL6ST
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Gene: IL7
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: IL7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 (OMIM:618309)