TaoMedAI/RareMedData huggingface dataset:
Gene: TG
Phenotype: Thyroiditis (HP:0100646)
Associated disease: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 (OMIM:608175)
Gene: TG
Phenotype: Maternal autoimmune disease (HP:0011437)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Large posterior fontanelle (HP:0004491)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Goiter (HP:0000853)
Associated disease: THYROID DYSHORMONOGENESIS 3 (OMIM:274700)
Gene: TG
Phenotype: Goiter (HP:0000853)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Facial edema (HP:0000282)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Thyroid carcinoma (HP:0002890)
Associated disease: THYROID DYSHORMONOGENESIS 3 (OMIM:274700)
Gene: TG
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Bradycardia (HP:0001662)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Thyroid dyshormonogenesis; Familial thyroid dyshormonogenesis (ORPHA:95716)
Gene: TG
Phenotype: Increased T3/T4 ratio (HP:0012559)
Associated disease: THYROID DYSHORMONOGENESIS 3 (OMIM:274700)
Gene: TGFA
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Abnormal primary molar morphology (HP:0006344)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Short dental root (HP:0006336)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Agenesis of central incisor (HP:0006289)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Taurodontia (HP:0000679)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Oligodontia (HP:0000677)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Microdontia (HP:0000691)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Agenesis of maxillary lateral incisor (HP:0000690)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Abnormality of canine (HP:0011078)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Agenesis of mandibular premolar (HP:0011053)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Agenesis of premolar (HP:0011051)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Agenesis of first permanent molar tooth (HP:0011056)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Eclabion (HP:0012472)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFA
Phenotype: Short face (HP:0011219)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: TGFB1
Phenotype: Eosinophilic infiltration of the esophagus (HP:0410151)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Nontuberculous mycobacterial pulmonary infection (HP:0032261)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Ataxia (HP:0001251)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Ileus (HP:0002595)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Spasticity (HP:0001257)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Decreased forced expiratory flow 25-75% (HP:0032359)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Abnormal humerus morphology (HP:0031095)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Salty tasting skin (HP:6000725)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Urinary retention (HP:0000016)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Abnormal subcutaneous fat tissue distribution (HP:0007552)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Coxa valga (HP:0002673)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Bone pain (HP:0002653)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Recurrent Staphylococcus aureus infections (HP:0002726)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Recurrent Aspergillus infections (HP:0002724)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Diarrhea (HP:0002014)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Asthma (HP:0002099)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Asthma (HP:0002099)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Hyperpolarized transepithelial nasal potential difference (HP:6000100)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Anorexia (HP:0002039)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Hemoptysis (HP:0002105)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Pancolitis (HP:0033256)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Hyperostosis (HP:0100774)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Candida esophagitis (HP:0033351)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Bloody diarrhea (HP:0025085)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Perianal abscess (HP:0009789)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Severe varicella zoster infection (HP:0032170)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Dehydration (HP:0001944)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Hypochromic anemia (HP:0001931)
Associated disease: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY (OMIM:618213)
Gene: TGFB1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Anemia (HP:0001903)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Cachexia (HP:0004326)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGFB1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)
Gene: TGFB1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Anxiety (HP:0000739)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Depression (HP:0000716)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Childhood onset (HP:0011463)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGFB1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Meconium ileus (HP:0004401)
Associated disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Gene: TGFB1
Phenotype: Meconium ileus (HP:0004401)
Associated disease: CYSTIC FIBROSIS (OMIM:219700)
Gene: TGFB1
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Camurati-Engelmann disease; Progressive diaphyseal dysplasia (ORPHA:1328)