TaoMedAI/RareMedData huggingface dataset:
Gene: DNMT1
Phenotype: Depression (HP:0000716)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Depression (HP:0000716)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Dementia (HP:0000726)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Dementia (HP:0000726)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Psychosis (HP:0000709)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Young adult onset (HP:0011462)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Abnormality of mitochondrial metabolism (HP:0003287)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Narcolepsy (HP:0030050)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Narcolepsy (HP:0030050)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Abnormal cerebrospinal fluid morphology (HP:0002921)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
Gene: DNMT1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT (OMIM:604121)
Gene: DNMT1
Phenotype: Cataract (HP:0000518)
Associated disease: ADCA-DN syndrome; Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome; Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome (ORPHA:314404)
Gene: DNMT3A
Phenotype: Fetal distress (HP:0025116)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Pulsatile tinnitus (HP:0008629)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Panic attack (HP:0025269)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Seizure (HP:0001250)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Seizure (HP:0001250)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Hypotonia (HP:0001252)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Gene: DNMT3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Broad metacarpals (HP:0001230)
Associated disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Gene: DNMT3A
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Broad phalanx (HP:0006009)
Associated disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Gene: DNMT3A
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Tall stature (HP:0000098)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Proteinuria (HP:0000093)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Paraganglioma (HP:0002668)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Tremor (HP:0001337)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Gene: DNMT3A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: DNMT3A
Phenotype: Hypertension associated with pheochromocytoma (HP:0002640)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Scoliosis (HP:0002650)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Floppy infant (HP:0008947)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Flushing (HP:0031284)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: DNMT3A
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Talipes valgus (HP:0004684)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Nausea (HP:0002018)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Deep philtrum (HP:0002002)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Deep philtrum (HP:0002002)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Short columella (HP:0002000)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Short columella (HP:0002000)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Patellar subluxation (HP:0010499)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Congenital onset (HP:0003577)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Chest pain (HP:0100749)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Schizophrenia (HP:0100753)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Severe short stature (HP:0003510)
Associated disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Gene: DNMT3A
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Gene: DNMT3A
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Developmental regression (HP:0002376)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Gene: DNMT3A
Phenotype: Neuroendocrine neoplasm (HP:0100634)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Chiari malformation (HP:0002308)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Palpitations (HP:0001962)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Short metacarpal (HP:0010049)
Associated disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Gene: DNMT3A
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Decreased body weight (HP:0004325)
Associated disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Gene: DNMT3A
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Proportionate tall stature (HP:0011407)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Anxiety (HP:0000739)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Gene: DNMT3A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Hematuria (HP:0000790)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Gene: DNMT3A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Pallor (HP:0000980)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Widely spaced toes (HP:0008094)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Sparse hair (HP:0008070)
Associated disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Gene: DNMT3A
Phenotype: Supraventricular tachycardia with an accessory connection mediated pathway (HP:0011688)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Encephalomalacia (HP:0040197)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Epicanthus (HP:0000286)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Epicanthus (HP:0000286)
Associated disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Gene: DNMT3A
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)