TaoMedAI/RareMedData huggingface dataset:
Gene: ICOS
Phenotype: Neoplasm (HP:0002664)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Lymphoma (HP:0002665)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Follicular hyperplasia (HP:0002729)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Pneumonia (HP:0002090)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Autoimmune neutropenia (HP:0001904)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Young adult onset (HP:0011462)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Autoimmunity (HP:0002960)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: ICOS
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ICOS
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Gene: ALG5
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: POLYCYSTIC KIDNEY DISEASE 7 (OMIM:620056)
Gene: ALG5
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: POLYCYSTIC KIDNEY DISEASE 7 (OMIM:620056)
Gene: ALG5
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POLYCYSTIC KIDNEY DISEASE 7 (OMIM:620056)
Gene: ALG5
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Renal cyst (HP:0000107)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Pituitary growth hormone cell adenoma (HP:0011760)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Adult onset (HP:0003581)
Associated disease: POLYCYSTIC KIDNEY DISEASE 7 (OMIM:620056)
Gene: ALG5
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: POLYCYSTIC KIDNEY DISEASE 7 (OMIM:620056)
Gene: ALG5
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Uric acid nephrolithiasis (HP:0000791)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Hematuria (HP:0000790)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Hypertension (HP:0000822)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Hypertension (HP:0000822)
Associated disease: POLYCYSTIC KIDNEY DISEASE 7 (OMIM:620056)
Gene: ALG5
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Polycystic liver disease (HP:0006557)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Abnormal systemic arterial morphology (HP:0011004)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Flank pain (HP:0030157)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Renal interstitial fibrosis (HP:0032948)
Associated disease: POLYCYSTIC KIDNEY DISEASE 7 (OMIM:620056)
Gene: ALG5
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Abnormal urinary electrolyte concentration (HP:0012591)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Albuminuria (HP:0012592)
Associated disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Gene: ALG5
Phenotype: Renal atrophy (HP:0012585)
Associated disease: POLYCYSTIC KIDNEY DISEASE 7 (OMIM:620056)
Gene: SNX10
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Gene: SNX10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Tremor (HP:0001337)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Bone pain (HP:0002653)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Premature loss of primary teeth (HP:0006323)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Gene: SNX10
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Apnea (HP:0002104)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Opsoclonus (HP:0010543)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Gene: SNX10
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Gene: SNX10
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Gene: SNX10
Phenotype: Facial palsy (HP:0010628)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Gene: SNX10
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Nystagmus (HP:0000639)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Gene: SNX10
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Anemia (HP:0001903)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Anemia (HP:0001903)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Gene: SNX10
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Unilateral microphthalmos (HP:0011480)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Gene: SNX10
Phenotype: Childhood onset (HP:0011463)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)
Gene: SNX10
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Narrow chest (HP:0000774)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SNX10
Phenotype: Pallor (HP:0000980)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SNX10
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Infantile malignant osteopetrosis; Autosomal recessive malignant osteopetrosis (ORPHA:667)
Gene: SNX10
Phenotype: Macrocephaly (HP:0000256)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 (OMIM:615085)