TaoMedAI/RareMedData huggingface dataset:
Gene: CR2
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Autoimmunity (HP:0002960)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Decreased specific pneumococcal antibody level (HP:0012476)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
Gene: CR2
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
Gene: CR2
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Chronic partially decreased circulating IgG1 (HP:0041070)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
Gene: CR2
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CR2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Chronic (near) absent circulating IgG4 (HP:0041059)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
Gene: CR2
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CR2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: CRAT
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Gene: CRAT
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Gene: CRAT
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Gene: CRAT
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Gene: CRAT
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Gene: CRAT
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Gene: CRAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Gene: CRAT
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Gene: CRAT
Phenotype: Dysmetria (HP:0001310)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Gene: CRAT
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Gene: CRAT
Phenotype: Progressive (HP:0003676)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Gene: CRAT
Phenotype: Unsteady gait (HP:0002317)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Gene: CRAT
Phenotype: Iron accumulation in brain (HP:0012675)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Gene: CRAT
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Gene: CRAT
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Gene: CRAT
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 (OMIM:617917)
Gene: CREB1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: HISTIOCYTOMA, ANGIOMATOID FIBROUS (OMIM:612160)
Gene: CREB1
Phenotype: Histiocytoma (HP:0012315)
Associated disease: HISTIOCYTOMA, ANGIOMATOID FIBROUS (OMIM:612160)
Gene: CREBBP
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Syndactyly (HP:0001159)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Syndactyly (HP:0001159)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Trichiasis (HP:0001128)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Abnormality of the upper urinary tract (HP:0010935)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Simple ear (HP:0020206)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Spina bifida (HP:0002414)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Sporadic (HP:0003745)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Panic attack (HP:0025269)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Panic attack (HP:0025269)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Motor delay (HP:0001270)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Seizure (HP:0001250)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Seizure (HP:0001250)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Seizure (HP:0001250)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Seizure (HP:0001250)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Seizure (HP:0001250)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Hypotonia (HP:0001252)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Hypotonia (HP:0001252)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Hypotonia (HP:0001252)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Laryngeal cartilage malformation (HP:0008752)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Abnormal fear-induced behavior (HP:0100852)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Abnormal fear-induced behavior (HP:0100852)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Flexion contracture (HP:0001371)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Hypospadias (HP:0000047)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Hypospadias (HP:0000047)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Hypospadias (HP:0000047)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Parietal foramina (HP:0002697)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Widened distal phalanges (HP:0006200)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Neoplasm (HP:0002664)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Neoplasm (HP:0002664)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Absent speech (HP:0001344)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Absent speech (HP:0001344)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Scoliosis (HP:0002650)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Scoliosis (HP:0002650)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Narrow palate (HP:0000189)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Narrow palate (HP:0000189)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Narrow palate (HP:0000189)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Narrow mouth (HP:0000160)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Cleft palate (HP:0000175)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Cleft palate (HP:0000175)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CREBBP
Phenotype: Cleft palate (HP:0000175)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: High, narrow palate (HP:0002705)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Large foramen magnum (HP:0002700)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Hepatic hemangioma (HP:0031207)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Abnormal subclavian artery morphology (HP:0031251)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Constipation (HP:0002019)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Constipation (HP:0002019)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Constipation (HP:0002019)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Deep philtrum (HP:0002002)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Short columella (HP:0002000)
Associated disease: Menke-Hennekam syndrome (ORPHA:592574)
Gene: CREBBP
Phenotype: Short columella (HP:0002000)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Short columella (HP:0002000)
Associated disease: MENKE-HENNEKAM SYNDROME 1 (OMIM:618332)
Gene: CREBBP
Phenotype: Frontal bossing (HP:0002007)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Respiratory distress (HP:0002098)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Asthma (HP:0002099)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Asthma (HP:0002099)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Pneumonia (HP:0002090)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Pneumonia (HP:0002090)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Syringomyelia (HP:0003396)
Associated disease: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (ORPHA:353281)
Gene: CREBBP
Phenotype: Syringomyelia (HP:0003396)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)
Gene: CREBBP
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CREBBP
Phenotype: Polydactyly (HP:0010442)
Associated disease: RUBINSTEIN-TAYBI SYNDROME 1 (OMIM:180849)
Gene: CREBBP
Phenotype: Polydactyly (HP:0010442)
Associated disease: Rubinstein-Taybi syndrome due to CREBBP mutations (ORPHA:353277)