TaoMedAI/RareMedData huggingface dataset:
Gene: CREBBP
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Plantar crease between first and second toes (HP:0008107)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Tethered cord (HP:0002144)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Phonophobia (HP:0002183)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Keloids (HP:0010562)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Keloids (HP:0010562)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Keloids (HP:0010562)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Infantile onset (HP:0003593)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Congenital onset (HP:0003577)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Impulsivity (HP:0100710)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Impulsivity (HP:0100710)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Impulsivity (HP:0100710)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Facial hypertrichosis (HP:0002219)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Papillary cystadenoma of the epididymis (HP:0009715)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Abnormal curvature of the vertebral column (HP:0010674)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Abnormal curvature of the vertebral column (HP:0010674)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Cutaneous syndactyly of toes (HP:0010621)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Social and occupational deterioration (HP:0007086)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Social and occupational deterioration (HP:0007086)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: High axial triradius (HP:0001042)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Poor coordination (HP:0002370)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Cervical cord compression (HP:0002341)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Cervical cord compression (HP:0002341)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Hirsutism (HP:0001007)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: EEG abnormality (HP:0002353)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Unsteady gait (HP:0002317)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Slanting of the palpebral fissure (HP:0200006)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Abnormal proximal phalanx morphology of the hand (HP:0009834)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Abnormal proximal phalanx morphology of the hand (HP:0009834)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Vascular ring (HP:0010775)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Vascular ring (HP:0010775)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Vascular ring (HP:0010775)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Short thumb (HP:0009778)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Low hanging columella (HP:0009765)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Low hanging columella (HP:0009765)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Low hanging columella (HP:0009765)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Incoordination (HP:0002311)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Duplication of phalanx of hallux (HP:0010066)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Nystagmus (HP:0000639)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Blindness (HP:0000618)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Truncal obesity (HP:0001956)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Leukemia (HP:0001909)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Deviation of the hallux (HP:0010051)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Broad hallux (HP:0010055)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Broad hallux (HP:0010055)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Broad hallux (HP:0010055)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Broad hallux (HP:0010055)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Frontal hirsutism (HP:0011335)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Dental crowding (HP:0000678)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Dental crowding (HP:0000678)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Dental crowding (HP:0000678)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Natal tooth (HP:0000695)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Natal tooth (HP:0000695)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Carious teeth (HP:0000670)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Carious teeth (HP:0000670)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Broad thumb (HP:0011304)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Broad thumb (HP:0011304)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Broad thumb (HP:0011304)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Hypodontia (HP:0000668)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Hypodontia (HP:0000668)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Short stature (HP:0004322)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Short stature (HP:0004322)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Short stature (HP:0004322)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Short stature (HP:0004322)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Short ear (HP:0400005)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Agoraphobia (HP:0000756)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Agoraphobia (HP:0000756)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Hyperactivity (HP:0000752)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Short attention span (HP:0000736)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Self-mutilation (HP:0000742)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Autism (HP:0000717)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Emotional lability (HP:0000712)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Emotional lability (HP:0000712)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Deviated nasal septum (HP:0004411)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Short nose (HP:0003196)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Short nose (HP:0003196)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Aortic isthmus hypoplasia (HP:0034227)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Radial deviation of thumb terminal phalanx (HP:0005895)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Premature thelarche (HP:0010314)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Spinal cord tumor (HP:0010302)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Abnormal posterior cranial fossa morphology (HP:0000932)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Abnormal posterior cranial fossa morphology (HP:0000932)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Sparse hair (HP:0008070)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Epicanthus (HP:0000286)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Epicanthus (HP:0000286)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)