TaoMedAI/RareMedData huggingface dataset:
Gene: TMEM43
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Decreased cervical spine flexion due to contractures of posterior cervical muscles (HP:0004631)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (OMIM:604400)
Gene: TMEM43
Phenotype: Back pain (HP:0003418)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Late onset (HP:0003584)
Associated disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3 (OMIM:619832)
Gene: TMEM43
Phenotype: Adult onset (HP:0003581)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT (OMIM:614302)
Gene: TMEM43
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT (OMIM:614302)
Gene: TMEM43
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT (OMIM:614302)
Gene: TMEM43
Phenotype: Chest pain (HP:0100749)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (OMIM:604400)
Gene: TMEM43
Phenotype: Scapular winging (HP:0003691)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Slowly progressive (HP:0003677)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT (OMIM:614302)
Gene: TMEM43
Phenotype: Dyskinesia (HP:0100660)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (OMIM:604400)
Gene: TMEM43
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT (OMIM:614302)
Gene: TMEM43
Phenotype: Palpitations (HP:0001962)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (OMIM:604400)
Gene: TMEM43
Phenotype: Abnormal speech discrimination (HP:0001963)
Associated disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3 (OMIM:619832)
Gene: TMEM43
Phenotype: Presyncope (HP:0031972)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (OMIM:604400)
Gene: TMEM43
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Young adult onset (HP:0011462)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (OMIM:604400)
Gene: TMEM43
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Myopathy (HP:0003198)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT (OMIM:614302)
Gene: TMEM43
Phenotype: Ichthyosis (HP:0008064)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Right ventricular cardiomyopathy (HP:0011663)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (OMIM:604400)
Gene: TMEM43
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT (OMIM:614302)
Gene: TMEM43
Phenotype: Kyphosis (HP:0002808)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Obesity (HP:0001513)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Ventricular escape rhythm (HP:0005155)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Hearing impairment (HP:0000365)
Associated disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 3 (OMIM:619832)
Gene: TMEM43
Phenotype: Absent muscle fiber emerin (HP:0030117)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (OMIM:604400)
Gene: TMEM43
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Bradycardia (HP:0001662)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT (OMIM:614302)
Gene: TMEM43
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (OMIM:604400)
Gene: TMEM43
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (OMIM:604400)
Gene: TMEM43
Phenotype: Prolonged QRS complex (HP:0006677)
Associated disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (OMIM:604400)
Gene: TMEM43
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT (OMIM:614302)
Gene: TMEM43
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: TMEM43
Phenotype: Ptosis (HP:0000508)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: IRX3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: IRX3
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: IRX3
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: IRX3
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: IRX3
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: IRX3
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: IRX3
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: THOC6
Phenotype: High anterior hairline (HP:0009890)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: High anterior hairline (HP:0009890)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Micropenis (HP:0000054)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Hypospadias (HP:0000047)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Specific learning disability (HP:0001328)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Anal atresia (HP:0002023)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Infantile onset (HP:0003593)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Congenital onset (HP:0003577)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Low hanging columella (HP:0009765)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Low hanging columella (HP:0009765)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Carious teeth (HP:0000670)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Carious teeth (HP:0000670)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Long nose (HP:0003189)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Long nose (HP:0003189)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Thin lower lip vermilion (HP:0010282)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Mild microcephaly (HP:0040196)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Epicanthus (HP:0000286)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Retrognathia (HP:0000278)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Microcephaly (HP:0000252)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Camptodactyly (HP:0012385)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Left-to-right shunt (HP:0012382)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Broad forehead (HP:0000337)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Endometriosis (HP:0030127)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Endometriosis (HP:0030127)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: High forehead (HP:0000348)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: High forehead (HP:0000348)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Micrognathia (HP:0000347)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Pointed chin (HP:0000307)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Deeply set eye (HP:0000490)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Deeply set eye (HP:0000490)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Overlapping toe (HP:0001845)
Associated disease: BBIS; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome; Beaulieu-Boycott-Innes syndrome (ORPHA:363444)
Gene: THOC6
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: THOC6
Phenotype: Myopia (HP:0000545)
Associated disease: BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
Gene: MMEL1
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Xanthelasma (HP:0001114)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Celiac disease (HP:0002608)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Hepatitis (HP:0012115)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: MMEL1
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)