TaoMedAI/RareMedData huggingface dataset:
Gene: CSGALNACT1
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: High palate (HP:0000218)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Genu valgum (HP:0002857)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Flat face (HP:0012368)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Broad forehead (HP:0000337)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Micromelia (HP:0002983)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Round face (HP:0000311)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Breech presentation (HP:0001623)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Microretrognathia (HP:0000308)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Short neck (HP:0000470)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Short nail (HP:0001799)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Pes planus (HP:0001763)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Proptosis (HP:0000520)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Glaucoma (HP:0000501)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRIF1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC (OMIM:619477)
Gene: LRIF1
Phenotype: Digenic inheritance (HP:0010984)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC (OMIM:619477)
Gene: LRIF1
Phenotype: Middle age onset (HP:0003596)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC (OMIM:619477)
Gene: LRIF1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC (OMIM:619477)
Gene: LRIF1
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC (OMIM:619477)
Gene: LRIF1
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC (OMIM:619477)
Gene: LRIF1
Phenotype: Scapular winging (HP:0003691)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC (OMIM:619477)
Gene: LRIF1
Phenotype: Angulated muscle fibers (HP:0034045)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC (OMIM:619477)
Gene: LRIF1
Phenotype: Fatigue (HP:0012378)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC (OMIM:619477)
Gene: LRIF1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC (OMIM:619477)
Gene: LRIF1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC (OMIM:619477)
Gene: SCN3B
Phenotype: Syncope (HP:0001279)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN3B
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN3B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRUGADA SYNDROME 7 (OMIM:613120)
Gene: SCN3B
Phenotype: Dyspnea (HP:0002094)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN3B
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN3B
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN3B
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN3B
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN3B
Phenotype: Paroxysmal atrial fibrillation (HP:0004757)
Associated disease: BRUGADA SYNDROME 7 (OMIM:613120)
Gene: SCN3B
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN3B
Phenotype: Permanent atrial fibrillation (HP:0004754)
Associated disease: BRUGADA SYNDROME 7 (OMIM:613120)
Gene: SCN3B
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN3B
Phenotype: Atrial flutter (HP:0004749)
Associated disease: BRUGADA SYNDROME 7 (OMIM:613120)
Gene: SCN3B
Phenotype: Middle age onset (HP:0003596)
Associated disease: BRUGADA SYNDROME 7 (OMIM:613120)
Gene: SCN3B
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN3B
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN3B
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN3B
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN3B
Phenotype: Thromboembolism (HP:0001907)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN3B
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN3B
Phenotype: Prolonged P wave (HP:0034308)
Associated disease: BRUGADA SYNDROME 7 (OMIM:613120)
Gene: SCN3B
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN3B
Phenotype: ST segment elevation (HP:0012251)
Associated disease: BRUGADA SYNDROME 7 (OMIM:613120)
Gene: SCN3B
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN3B
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN3B
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN3B
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN3B
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SCN3B
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN3B
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial atrial fibrillation (ORPHA:334)
Gene: SCN3B
Phenotype: Late young adult onset (HP:0025710)
Associated disease: BRUGADA SYNDROME 7 (OMIM:613120)
Gene: HR
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: Alopecia universalis (ORPHA:701)
Gene: HR
Phenotype: Absent pubic hair (HP:0002555)
Associated disease: ALOPECIA UNIVERSALIS CONGENITA (OMIM:203655)
Gene: HR
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Marie Unna congenital hypotrichosis; Marie Unna hereditary hypotrichosis; MUHH; Hypotrichosis, Marie Unna type (ORPHA:444)
Gene: HR
Phenotype: Generalized papillary lesions (HP:0007482)
Associated disease: ATRICHIA WITH PAPULAR LESIONS (OMIM:209500)
Gene: HR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ATRICHIA WITH PAPULAR LESIONS (OMIM:209500)
Gene: HR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALOPECIA UNIVERSALIS CONGENITA (OMIM:203655)
Gene: HR
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: Alopecia universalis (ORPHA:701)
Gene: HR
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: ALOPECIA UNIVERSALIS CONGENITA (OMIM:203655)
Gene: HR
Phenotype: Absent axillary hair (HP:0002221)
Associated disease: ALOPECIA UNIVERSALIS CONGENITA (OMIM:203655)
Gene: HR
Phenotype: Sparse or absent eyelashes (HP:0200102)
Associated disease: Marie Unna congenital hypotrichosis; Marie Unna hereditary hypotrichosis; MUHH; Hypotrichosis, Marie Unna type (ORPHA:444)
Gene: HR
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: Alopecia universalis (ORPHA:701)
Gene: HR
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Marie Unna congenital hypotrichosis; Marie Unna hereditary hypotrichosis; MUHH; Hypotrichosis, Marie Unna type (ORPHA:444)
Gene: HR
Phenotype: Coarse hair (HP:0002208)
Associated disease: Marie Unna congenital hypotrichosis; Marie Unna hereditary hypotrichosis; MUHH; Hypotrichosis, Marie Unna type (ORPHA:444)
Gene: HR
Phenotype: Alopecia universalis (HP:0002289)
Associated disease: ALOPECIA UNIVERSALIS CONGENITA (OMIM:203655)
Gene: HR
Phenotype: Alopecia universalis (HP:0002289)
Associated disease: Alopecia universalis (ORPHA:701)
Gene: HR
Phenotype: Vitiligo (HP:0001045)
Associated disease: Alopecia universalis (ORPHA:701)
Gene: HR
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: Alopecia universalis (ORPHA:701)
Gene: HR
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Alopecia universalis (ORPHA:701)
Gene: HR
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ALOPECIA UNIVERSALIS CONGENITA (OMIM:203655)
Gene: HR
Phenotype: Abnormal circulating lipid concentration (HP:0003119)
Associated disease: Alopecia universalis (ORPHA:701)
Gene: HR
Phenotype: Hypertension (HP:0000822)
Associated disease: Alopecia universalis (ORPHA:701)
Gene: HR
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Alopecia universalis (ORPHA:701)
Gene: HR
Phenotype: Sparse hair (HP:0008070)
Associated disease: ATRICHIA WITH PAPULAR LESIONS (OMIM:209500)
Gene: HR
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Alopecia universalis (ORPHA:701)
Gene: HR
Phenotype: Alopecia (HP:0001596)
Associated disease: Marie Unna congenital hypotrichosis; Marie Unna hereditary hypotrichosis; MUHH; Hypotrichosis, Marie Unna type (ORPHA:444)
Gene: HR
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Alopecia universalis (ORPHA:701)
Gene: HR
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: Alopecia universalis (ORPHA:701)
Gene: HR
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: ALOPECIA UNIVERSALIS CONGENITA (OMIM:203655)
Gene: ADCY10
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: Idiopathic hypercalciuria (ORPHA:2197)
Gene: ADCY10
Phenotype: Calcium oxalate nephrolithiasis (HP:0008672)
Associated disease: HYPERCALCIURIA, ABSORPTIVE, 2 (OMIM:143870)
Gene: ADCY10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERCALCIURIA, ABSORPTIVE, 2 (OMIM:143870)
Gene: ADCY10
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: HYPERCALCIURIA, ABSORPTIVE, 2 (OMIM:143870)
Gene: ADCY10
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Idiopathic hypercalciuria (ORPHA:2197)
Gene: ADCY10
Phenotype: Parathormone-independent increased renal tubular calcium reabsorption (HP:0003529)
Associated disease: Idiopathic hypercalciuria (ORPHA:2197)
Gene: ADCY10
Phenotype: Renal calcium wasting (HP:0012637)
Associated disease: Idiopathic hypercalciuria (ORPHA:2197)
Gene: ADCY10
Phenotype: Abnormal circulating calcium concentration (HP:0004363)
Associated disease: Idiopathic hypercalciuria (ORPHA:2197)
Gene: ADCY10
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Idiopathic hypercalciuria (ORPHA:2197)
Gene: ADCY10
Phenotype: Osteopenia (HP:0000938)
Associated disease: Idiopathic hypercalciuria (ORPHA:2197)
Gene: SPATA7
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPATA7
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: LEBER CONGENITAL AMAUROSIS 3 (OMIM:604232)
Gene: SPATA7
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: SPATA7
Phenotype: Macular coloboma (HP:0001116)
Associated disease: EOSRD; SECORD; Early-onset severe retinal dystrophy; Severe early-childhood-onset retinal dystrophy (ORPHA:364055)
Gene: SPATA7
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: SPATA7
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)