TaoMedAI/RareMedData huggingface dataset:
Gene: EP300
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Respiratory distress (HP:0002098)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Asthma (HP:0002099)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Pneumonia (HP:0002090)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Syringomyelia (HP:0003396)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Polydactyly (HP:0010442)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Polydactyly (HP:0010442)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Plantar crease between first and second toes (HP:0008107)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Short 5th toe (HP:0011917)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Phonophobia (HP:0002183)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Keloids (HP:0010562)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Keloids (HP:0010562)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Infantile onset (HP:0003593)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Infantile onset (HP:0003593)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Congenital onset (HP:0003577)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Congenital onset (HP:0003577)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Impulsivity (HP:0100710)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Impulsivity (HP:0100710)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Facial hypertrichosis (HP:0002219)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Papillary cystadenoma of the epididymis (HP:0009715)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Abnormal curvature of the vertebral column (HP:0010674)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Cutaneous syndactyly of toes (HP:0010621)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Social and occupational deterioration (HP:0007086)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: High axial triradius (HP:0001042)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Poor coordination (HP:0002370)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Cervical cord compression (HP:0002341)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Hirsutism (HP:0001007)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Hirsutism (HP:0001007)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: EEG abnormality (HP:0002353)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Unsteady gait (HP:0002317)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Posterior helix pit (HP:0008523)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Abnormal proximal phalanx morphology of the hand (HP:0009834)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Preeclampsia (HP:0100602)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Vascular ring (HP:0010775)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Vascular ring (HP:0010775)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Short thumb (HP:0009778)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Low hanging columella (HP:0009765)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Low hanging columella (HP:0009765)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Low hanging columella (HP:0009765)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Incoordination (HP:0002311)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Duplication of phalanx of hallux (HP:0010066)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: EP300
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Nystagmus (HP:0000639)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Truncal obesity (HP:0001956)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Leukemia (HP:0001909)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Deviation of the hallux (HP:0010051)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Broad hallux (HP:0010055)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Broad hallux (HP:0010055)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Broad hallux (HP:0010055)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Frontal hirsutism (HP:0011335)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Dental crowding (HP:0000678)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Dental crowding (HP:0000678)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Dental crowding (HP:0000678)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Natal tooth (HP:0000695)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Carious teeth (HP:0000670)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Carious teeth (HP:0000670)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Broad thumb (HP:0011304)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Broad thumb (HP:0011304)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Broad thumb (HP:0011304)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Hypodontia (HP:0000668)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Short stature (HP:0004322)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Short stature (HP:0004322)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Short stature (HP:0004322)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Agoraphobia (HP:0000756)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Hyperactivity (HP:0000752)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Hyperactivity (HP:0000752)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Short attention span (HP:0000736)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Self-mutilation (HP:0000742)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Autism (HP:0000717)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Emotional lability (HP:0000712)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Autistic behavior (HP:0000729)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Short first metatarsal (HP:0010105)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Deviated nasal septum (HP:0004411)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Aortic isthmus hypoplasia (HP:0034227)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Radial deviation of thumb terminal phalanx (HP:0005895)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Premature thelarche (HP:0010314)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Abnormal posterior cranial fossa morphology (HP:0000932)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Epicanthus (HP:0000286)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Epicanthus (HP:0000286)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Retrognathia (HP:0000278)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Retrognathia (HP:0000278)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Full cheeks (HP:0000293)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Facial grimacing (HP:0000273)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Facial grimacing (HP:0000273)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Microcephaly (HP:0000252)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: Microcephaly (HP:0000252)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EP300
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENKE-HENNEKAM SYNDROME 2 (OMIM:618333)
Gene: EP300
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: High palate (HP:0000218)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 2 (OMIM:613684)
Gene: EP300
Phenotype: High palate (HP:0000218)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: High palate (HP:0000218)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: EP300
Phenotype: Meningioma (HP:0002858)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)
Gene: EP300
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EP300
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: EP300
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ORPHA:353284)