TaoMedAI/RareMedData huggingface dataset:
Gene: CREBBP
Phenotype: Abnormality of the philtrum (HP:0000288)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Retrognathia (HP:0000278)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Full cheeks (HP:0000293)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Facial grimacing (HP:0000273)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Facial grimacing (HP:0000273)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Microcephaly (HP:0000252)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Microcephaly (HP:0000252)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: High palate (HP:0000218)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: High palate (HP:0000218)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: High palate (HP:0000218)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Overweight (HP:0025502)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Meningioma (HP:0002858)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Meningioma (HP:0002858)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Aspiration (HP:0002835)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Abnormal lateral ventricle morphology (HP:0030047)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Small for gestational age (HP:0001518)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Growth delay (HP:0001510)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Growth delay (HP:0001510)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Obesity (HP:0001513)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Obesity (HP:0001513)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Talon cusp (HP:0011087)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Talon cusp (HP:0011087)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Talon cusp (HP:0011087)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Absent earlobe (HP:0000387)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Flat face (HP:0012368)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Overfolded helix (HP:0000396)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Otitis media (HP:0000388)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Otitis media (HP:0000388)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Abnormality of thyroid physiology (HP:0002926)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Low-set ears (HP:0000369)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Low-set ears (HP:0000369)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Low-set ears (HP:0000369)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Long philtrum (HP:0000343)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Micrognathia (HP:0000347)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Micrognathia (HP:0000347)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Micrognathia (HP:0000347)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Square face (HP:0000321)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Humoral immunodeficiency (HP:0005363)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Humoral immunodeficiency (HP:0005363)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Prominent nasal septum (HP:0005322)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Strabismus (HP:0000486)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Strabismus (HP:0000486)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Strabismus (HP:0000486)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Strabismus (HP:0000486)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Deeply set eye (HP:0000490)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Retinopathy (HP:0000488)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Chronic constipation (HP:0012450)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Pes planus (HP:0001763)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Prominent nose (HP:0000448)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Accessory spleen (HP:0001747)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Protruding ear (HP:0000411)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Pilomatrixoma (HP:0030434)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Pilomatrixoma (HP:0030434)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Cataract (HP:0000518)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Cataract (HP:0000518)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Cataract (HP:0000518)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Cataract (HP:0000518)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Overlapping toe (HP:0001845)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Long eyelashes (HP:0000527)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Long eyelashes (HP:0000527)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Sandal gap (HP:0001852)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Sandal gap (HP:0001852)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Proptosis (HP:0000520)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Telecanthus (HP:0000506)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Telecanthus (HP:0000506)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Ptosis (HP:0000508)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Ptosis (HP:0000508)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Ptosis (HP:0000508)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Ptosis (HP:0000508)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Glaucoma (HP:0000501)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Glaucoma (HP:0000501)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Glaucoma (HP:0000501)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Prominent inferior crus of antihelix (HP:0011238)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Coloboma (HP:0000589)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Coloboma (HP:0000589)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)