TaoMedAI/RareMedData huggingface dataset:
Gene: DNM1L
Phenotype: Progressive (HP:0003676)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Slowly progressive (HP:0003677)
Associated disease: OPTIC ATROPHY 5 (OMIM:610708)
Gene: DNM1L
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Drooling (HP:0002307)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Athetosis (HP:0002305)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OPTIC ATROPHY 5 (OMIM:610708)
Gene: DNM1L
Phenotype: Moderately reduced visual acuity (HP:0030515)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Nystagmus (HP:0000639)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Nystagmus (HP:0000639)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OPTIC ATROPHY 5 (OMIM:610708)
Gene: DNM1L
Phenotype: Optic atrophy (HP:0000648)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Central scotoma (HP:0000603)
Associated disease: OPTIC ATROPHY 5 (OMIM:610708)
Gene: DNM1L
Phenotype: Central scotoma (HP:0000603)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Abnormality of pattern visual evoked potentials (HP:0030455)
Associated disease: OPTIC ATROPHY 5 (OMIM:610708)
Gene: DNM1L
Phenotype: Broad hallux (HP:0010055)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Broad thumb (HP:0011304)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Hallucinations (HP:0000738)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Restlessness (HP:0000711)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Dementia (HP:0000726)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Myopathy (HP:0003198)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Elevated circulating hexacosanoic acid concentration (HP:0034298)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Microcephaly (HP:0000252)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Morning glory anomaly (HP:0025514)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Death in infancy (HP:0001522)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Fatigue (HP:0012378)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Pointed chin (HP:0000307)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: OPTIC ATROPHY 5 (OMIM:610708)
Gene: DNM1L
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Strabismus (HP:0000486)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Strabismus (HP:0000486)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Deeply set eye (HP:0000490)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Late young adult onset (HP:0025710)
Associated disease: OPTIC ATROPHY 5 (OMIM:610708)
Gene: DNM1L
Phenotype: Pes cavus (HP:0001761)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Cataract (HP:0000518)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Ptosis (HP:0000508)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Visual impairment (HP:0000505)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Delayed menarche (HP:0012569)
Associated disease: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect (ORPHA:330050)
Gene: DNM1L
Phenotype: Tritanomaly (HP:0000552)
Associated disease: OPTIC ATROPHY 5 (OMIM:610708)
Gene: DNM1L
Phenotype: Color vision defect (HP:0000551)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Temporal optic disc pallor (HP:0012511)
Associated disease: Optic atrophy type 1; Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy (ORPHA:98673)
Gene: DNM1L
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1 (OMIM:614388)
Gene: DNM1L
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: OPTIC ATROPHY 5 (OMIM:610708)
Gene: ABCC9
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ABCC9
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: ABCC9
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: ABCC9
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Large sella turcica (HP:0002690)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Hypoplastic ischiopubic ramus (HP:0008822)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Coxa valga (HP:0002673)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Coxa valga (HP:0002673)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ABCC9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1O (OMIM:608569)
Gene: ABCC9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 12 (OMIM:614050)
Gene: ABCC9
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Scoliosis (HP:0002650)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Wide mouth (HP:0000154)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Curly eyelashes (HP:0007665)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Curly eyelashes (HP:0007665)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Food allergy (HP:0500093)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Cuboid-shaped vertebral bodies (HP:0004634)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Cuboid-shaped vertebral bodies (HP:0004634)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: ABCC9
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ABCC9
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: ABCC9
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: ABCC9
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: ABCC9
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: ABCC9
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: ABCC9
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 12 (OMIM:614050)
Gene: ABCC9
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: CARDIOMYOPATHY, DILATED, 1O (OMIM:608569)
Gene: ABCC9
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: ABCC9
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: ABCC9
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Postural instability (HP:0002172)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Triceps hyperreflexia (HP:0033204)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Sleep apnea (HP:0010535)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Middle age onset (HP:0003596)
Associated disease: ATRIAL FIBRILLATION, FAMILIAL, 12 (OMIM:614050)
Gene: ABCC9
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1O (OMIM:608569)
Gene: ABCC9
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Congenital onset (HP:0003577)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: ABCC9
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Cantú syndrome; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Gene: ABCC9
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: ABCC9
Phenotype: Heterotropia (HP:0032012)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Esodeviation (HP:0020045)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Gene: ABCC9
Phenotype: Lymphedema (HP:0001004)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: ABCC9
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ABCC9
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Erlenmeyer flask deformity of the femurs (HP:0004975)
Associated disease: CANTU SYNDROME (OMIM:239850)
Gene: ABCC9
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ABCC9
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ABCC9
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)