TaoMedAI/RareMedData huggingface dataset:
Gene: ENG
Phenotype: Chest pain (HP:0100749)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Visceral angiomatosis (HP:0100761)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Cerebral berry aneurysm (HP:0007029)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ENG
Phenotype: Spinal arteriovenous malformation (HP:0002390)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ENG
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Telangiectasia (HP:0001009)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Anemic pallor (HP:0001017)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: ENG
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ENG
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Anemia (HP:0001903)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Anemia (HP:0001903)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Anemia (HP:0001903)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: ENG
Phenotype: Polycythemia (HP:0001901)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Multiple gastric polyps (HP:0004394)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: ENG
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Spontaneous, recurrent epistaxis (HP:0004406)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ENG
Phenotype: Reduced FEV1/FVC ratio (HP:0030877)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Pulmonary hemorrhage (HP:0040223)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Edema (HP:0000969)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: ENG
Phenotype: Cyanosis (HP:0000961)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Encephalomalacia (HP:0040197)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ENG
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ENG
Phenotype: Retinal telangiectasia (HP:0007763)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Lip telangiectasia (HP:0000214)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Lip telangiectasia (HP:0000214)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Tongue telangiectasia (HP:0000227)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Tongue telangiectasia (HP:0000227)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Brain abscess (HP:0030049)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Growth delay (HP:0001510)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: ENG
Phenotype: Abnormal cardiovascular system physiology (HP:0011025)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Miscarriage (HP:0005268)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Hepatic arteriovenous malformation (HP:0006574)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Hepatic arteriovenous malformation (HP:0006574)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Pulmonary arteriovenous malformation (HP:0006548)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Pulmonary arteriovenous malformation (HP:0006548)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Adenomatous colonic polyposis (HP:0005227)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: ENG
Phenotype: Right-to-left shunt (HP:0001694)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: High-output congestive heart failure (HP:0001722)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Gastrointestinal angiodysplasia (HP:0000471)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Small intestinal polyposis (HP:0030256)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: ENG
Phenotype: Nasal mucosa telangiectasia (HP:0000434)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Nasal mucosa telangiectasia (HP:0000434)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Hypoxemia (HP:0012418)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Epistaxis (HP:0000421)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: Rendu-Osler disease; Rendu-Osler-Weber disease; HHT; Hereditary hemorrhagic telangiectasia (ORPHA:774)
Gene: ENG
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1 (OMIM:187300)
Gene: ENG
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Generalized juvenile polyposis/juvenile polyposis coli (ORPHA:329971)
Gene: ENG
Phenotype: Abnormal circle of Willis morphology (HP:0012518)
Associated disease: Familial intracranial saccular aneurysm; Familial cerebral saccular aneurysm; Familial berry aneurysm (ORPHA:231160)
Gene: ENO3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCOGEN STORAGE DISEASE XIII (OMIM:612932)
Gene: ENO3
Phenotype: Myalgia (HP:0003326)
Associated disease: GLYCOGEN STORAGE DISEASE XIII (OMIM:612932)
Gene: ENO3
Phenotype: Adult onset (HP:0003581)
Associated disease: GLYCOGEN STORAGE DISEASE XIII (OMIM:612932)
Gene: ENO3
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: GLYCOGEN STORAGE DISEASE XIII (OMIM:612932)
Gene: ENO3
Phenotype: Reduced muscle enolase activity (HP:0034633)
Associated disease: GLYCOGEN STORAGE DISEASE XIII (OMIM:612932)
Gene: ENO3
Phenotype: Increased muscle glycogen content (HP:0009051)
Associated disease: GLYCOGEN STORAGE DISEASE XIII (OMIM:612932)
Gene: ENO3
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: GLYCOGEN STORAGE DISEASE XIII (OMIM:612932)
Gene: EP300
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Syndactyly (HP:0001159)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Syndactyly (HP:0001159)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Syndactyly (HP:0001159)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Trichiasis (HP:0001128)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Simple ear (HP:0020206)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Spina bifida (HP:0002414)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Sporadic (HP:0003745)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Sporadic (HP:0003745)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Panic attack (HP:0025269)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Seizure (HP:0001250)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Seizure (HP:0001250)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Hypotonia (HP:0001252)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Hypotonia (HP:0001252)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Duodenal ulcer (HP:0002588)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Laryngeal cartilage malformation (HP:0008752)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Abnormal fear-induced behavior (HP:0100852)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Flexion contracture (HP:0001371)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Hypospadias (HP:0000047)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Hypospadias (HP:0000047)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Parietal foramina (HP:0002697)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Widened distal phalanges (HP:0006200)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Neoplasm (HP:0002664)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Absent speech (HP:0001344)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: EP300
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Scoliosis (HP:0002650)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Scoliosis (HP:0002650)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Narrow palate (HP:0000189)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Narrow palate (HP:0000189)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Narrow palate (HP:0000189)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Narrow mouth (HP:0000160)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Narrow mouth (HP:0000160)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Cleft palate (HP:0000175)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: High, narrow palate (HP:0002705)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Large foramen magnum (HP:0002700)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Hepatic hemangioma (HP:0031207)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: EP300
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Abnormal subclavian artery morphology (HP:0031251)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Constipation (HP:0002019)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Constipation (HP:0002019)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Deep philtrum (HP:0002002)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Short columella (HP:0002000)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Frontal bossing (HP:0002007)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)