TaoMedAI/RareMedData huggingface dataset:
Gene: BRCA2
Phenotype: Pancreatic adenocarcinoma (HP:0006725)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA2
Phenotype: T-cell acute lymphoblastic leukemias (HP:0006727)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1 (OMIM:605724)
Gene: BRCA2
Phenotype: T-cell acute lymphoblastic leukemias (HP:0006727)
Associated disease: GLIOMA SUSCEPTIBILITY 3 (OMIM:613029)
Gene: BRCA2
Phenotype: Primary peritoneal carcinoma (HP:0030406)
Associated disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Gene: BRCA2
Phenotype: Cataract (HP:0000518)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Aniridia (HP:0000526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: BRCA2
Phenotype: Proptosis (HP:0000520)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Weight loss (HP:0001824)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BRCA2
Phenotype: Weight loss (HP:0001824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Weight loss (HP:0001824)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: BRCA2
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial pancreatic cancer; Familial pancreatic carcinoma (ORPHA:1333)
Gene: BRCA2
Phenotype: Ptosis (HP:0000508)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Visual impairment (HP:0000505)
Associated disease: FCCTX; Familial colorectal cancer Type X (ORPHA:440437)
Gene: BRCA2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: BRCA2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRCA2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: BRDT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 21 (OMIM:617644)
Gene: BRDT
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 21 (OMIM:617644)
Gene: BRDT
Phenotype: Acephalic spermatozoa (HP:0012869)
Associated disease: SPERMATOGENIC FAILURE 21 (OMIM:617644)
Gene: BRDT
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 21 (OMIM:617644)
Gene: BRDT
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 21 (OMIM:617644)
Gene: ZFP36L2
Phenotype: Repeated implantation failure (HP:0033712)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13 (OMIM:620154)
Gene: ZFP36L2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13 (OMIM:620154)
Gene: ZFP36L2
Phenotype: Female infertility (HP:0008222)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13 (OMIM:620154)
Gene: ZFP36L2
Phenotype: Young adult onset (HP:0011462)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13 (OMIM:620154)
Gene: BTD
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Decreased circulating biotinidase concentration (HP:0410145)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Decreased circulating biotinidase concentration (HP:0410145)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Lethargy (HP:0001254)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Lethargy (HP:0001254)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Seizure (HP:0001250)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Seizure (HP:0001250)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Hypotonia (HP:0001252)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Hypotonia (HP:0001252)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Ataxia (HP:0001251)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Ataxia (HP:0001251)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Tachypnea (HP:0002789)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Diarrhea (HP:0002014)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Vomiting (HP:0002013)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Metabolic ketoacidosis (HP:0005979)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Metabolic ketoacidosis (HP:0005979)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Apnea (HP:0002104)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Apnea (HP:0002104)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Myelopathy (HP:0002196)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Infantile onset (HP:0003593)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Nonprogressive visual loss (HP:0200068)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Optic atrophy (HP:0000648)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Organic aciduria (HP:0001992)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Organic aciduria (HP:0001992)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Childhood onset (HP:0011463)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Skin rash (HP:0000988)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Skin rash (HP:0000988)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Alopecia (HP:0001596)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Alopecia (HP:0001596)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Hyperventilation (HP:0002883)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Laryngeal stridor (HP:0006511)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Splenomegaly (HP:0001744)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Recurrent candida infections (HP:0005401)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTD
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Scotoma (HP:0000575)
Associated disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Gene: BTD
Phenotype: Visual loss (HP:0000572)
Associated disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Gene: BTK
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Enteroviral dermatomyositis syndrome (HP:0003729)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Enteroviral dermatomyositis syndrome (HP:0003729)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Sepsis (HP:0100806)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Sepsis (HP:0100806)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Meningitis (HP:0001287)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Meningitis (HP:0001287)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Meningitis (HP:0001287)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Recurrent cutaneous abscess formation (HP:0100838)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine (HP:0410303)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Arthritis (HP:0001369)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Prostatitis (HP:0000024)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Prostatitis (HP:0000024)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Epididymitis (HP:0000031)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Epididymitis (HP:0000031)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Neoplasm (HP:0002664)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Hepatitis (HP:0012115)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Lymph node hypoplasia (HP:0002732)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Enteroviral hepatitis (HP:0001412)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Enteroviral hepatitis (HP:0001412)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Recurrent enteroviral infections (HP:0002743)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Recurrent infections (HP:0002719)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Malabsorption (HP:0002024)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Diarrhea (HP:0002014)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Abnormal lung morphology (HP:0002088)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Pneumonia (HP:0002090)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Infantile onset (HP:0003593)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Abnormality of the tonsils (HP:0100765)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Bronchiolitis obliterans (HP:0011946)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)