TaoMedAI/RareMedData huggingface dataset:
Gene: EP300
Phenotype: Failure to thrive (HP:0001508)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Aspiration (HP:0002835)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Abnormal lateral ventricle morphology (HP:0030047)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Small for gestational age (HP:0001518)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Growth delay (HP:0001510)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Obesity (HP:0001513)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Increased overbite (HP:0011094)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Talon cusp (HP:0011087)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Talon cusp (HP:0011087)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Talon cusp (HP:0011087)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Absent earlobe (HP:0000387)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Flat face (HP:0012368)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Otitis media (HP:0000388)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Hearing impairment (HP:0000365)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Low-set ears (HP:0000369)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Low-set ears (HP:0000369)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Low-set ears (HP:0000369)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Micrognathia (HP:0000347)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Micrognathia (HP:0000347)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Micrognathia (HP:0000347)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Micrognathia (HP:0000347)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Square face (HP:0000321)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Hypertelorism (HP:0000316)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Humoral immunodeficiency (HP:0005363)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Prominent nasal septum (HP:0005322)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Strabismus (HP:0000486)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Strabismus (HP:0000486)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Strabismus (HP:0000486)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Strabismus (HP:0000486)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Deeply set eye (HP:0000490)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Chronic constipation (HP:0012450)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Pes planus (HP:0001763)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Prominent nose (HP:0000448)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Prominent nose (HP:0000448)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Accessory spleen (HP:0001747)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: EP300
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: EP300
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: EP300
Phenotype: Pilomatrixoma (HP:0030434)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Cataract (HP:0000518)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Cataract (HP:0000518)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Overlapping toe (HP:0001845)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Long eyelashes (HP:0000527)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Long eyelashes (HP:0000527)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Sandal gap (HP:0001852)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Proptosis (HP:0000520)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Ptosis (HP:0000508)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Ptosis (HP:0000508)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Glaucoma (HP:0000501)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Glaucoma (HP:0000501)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Coloboma (HP:0000589)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Coloboma (HP:0000589)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Coloboma (HP:0000589)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Prominent forehead (HP:0011220)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Corneal scarring (HP:0000559)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EPAS1
Phenotype: Pulsatile tinnitus (HP:0008629)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Panic attack (HP:0025269)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Elevated circulating erythropoietin concentration (HP:0033644)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 4 (OMIM:611783)
Gene: EPAS1
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Paraganglioma (HP:0002668)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Tremor (HP:0001337)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 4 (OMIM:611783)
Gene: EPAS1
Phenotype: Hypertension associated with pheochromocytoma (HP:0002640)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 4 (OMIM:611783)
Gene: EPAS1
Phenotype: Flushing (HP:0031284)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Nausea (HP:0002018)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Chest pain (HP:0100749)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Palpitations (HP:0001962)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Increased circulating hemoglobin concentration (HP:0001900)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 4 (OMIM:611783)
Gene: EPAS1
Phenotype: Polycythemia (HP:0001901)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 4 (OMIM:611783)
Gene: EPAS1
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Young adult onset (HP:0011462)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 4 (OMIM:611783)
Gene: EPAS1
Phenotype: Hematuria (HP:0000790)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Pallor (HP:0000980)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Pruritus (HP:0000989)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 4 (OMIM:611783)
Gene: EPAS1
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Fatigue (HP:0012378)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Mesenteric venous thrombosis (HP:0030248)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 4 (OMIM:611783)
Gene: EPAS1
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Weight loss (HP:0001824)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: EPAS1
Phenotype: Increased hematocrit (HP:0001899)
Associated disease: ERYTHROCYTOSIS, FAMILIAL, 4 (OMIM:611783)
Gene: EPB41
Phenotype: Chills (HP:0025143)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ELLIPTOCYTOSIS 1 (OMIM:611804)
Gene: EPB41
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ELLIPTOCYTOSIS 1 (OMIM:611804)
Gene: EPB41
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Congenital hemolytic anemia (HP:0004804)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Skin ulcer (HP:0200042)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Fever (HP:0001945)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Elliptocytosis (HP:0004445)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Elliptocytosis (HP:0004445)
Associated disease: ELLIPTOCYTOSIS 1 (OMIM:611804)
Gene: EPB41
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: EPB41
Phenotype: Pallor (HP:0000980)
Associated disease: ELLIPTOCYTOSIS 1 (OMIM:611804)