TaoMedAI/RareMedData huggingface dataset:
Gene: SLC34A3
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Decreased circulating parathyroid hormone level (HP:0031817)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Decreased circulating parathyroid hormone level (HP:0031817)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Short stature (HP:0004322)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Abnormal circulating calcium concentration (HP:0004363)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Enlargement of the ankles (HP:0003029)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Bulging epiphyses (HP:0003013)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Enlargement of the wrists (HP:0003020)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Hyperphosphaturia (HP:0003109)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Enlargement of the costochondral junction (HP:0000920)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Bulging of the costochondral junction (HP:0000893)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Deformed rib cage (HP:0000886)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Rachitic rosary (HP:0000897)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: High serum calcifediol (HP:0031414)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: High serum calcitriol (HP:0031415)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: High serum calcitriol (HP:0031415)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Growth delay (HP:0001510)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Growth delay (HP:0001510)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Increased circulating osteocalcin level (HP:0031428)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Increased circulating beta-C-terminal telopeptide concentration (HP:0031425)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Tibial bowing (HP:0002982)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Femoral bowing (HP:0002980)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Medullary nephrocalcinosis (HP:0012408)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Flat occiput (HP:0005469)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNHD1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: DNHD1
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: DNHD1
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: DNHD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 65 (OMIM:619712)
Gene: DNHD1
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: DNHD1
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 65 (OMIM:619712)
Gene: DNHD1
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 65 (OMIM:619712)
Gene: DNHD1
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 65 (OMIM:619712)
Gene: DNHD1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: DNHD1
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: DNHD1
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease: SPERMATOGENIC FAILURE 65 (OMIM:619712)
Gene: DNHD1
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE 65 (OMIM:619712)
Gene: DNHD1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 65 (OMIM:619712)
Gene: DNHD1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 65 (OMIM:619712)
Gene: DNHD1
Phenotype: Abnormal sperm mid-piece morphology (HP:0012867)
Associated disease: SPERMATOGENIC FAILURE 65 (OMIM:619712)
Gene: DNHD1
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: DNHD1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 65 (OMIM:619712)
Gene: DNHD1
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 65 (OMIM:619712)
Gene: PRICKLE1
Phenotype: Ataxia (HP:0001251)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: PRICKLE1
Phenotype: Ataxia (HP:0001251)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B (OMIM:612437)
Gene: PRICKLE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: PRICKLE1
Phenotype: Dysarthria (HP:0001260)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: PRICKLE1
Phenotype: Dysarthria (HP:0001260)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B (OMIM:612437)
Gene: PRICKLE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B (OMIM:612437)
Gene: PRICKLE1
Phenotype: Tremor (HP:0001337)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B (OMIM:612437)
Gene: PRICKLE1
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B (OMIM:612437)
Gene: PRICKLE1
Phenotype: Myoclonus (HP:0001336)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: PRICKLE1
Phenotype: Dysmetria (HP:0001310)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B (OMIM:612437)
Gene: PRICKLE1
Phenotype: Intention tremor (HP:0002080)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: PRICKLE1
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B (OMIM:612437)
Gene: PRICKLE1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: PRICKLE1
Phenotype: Babinski sign (HP:0003487)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B (OMIM:612437)
Gene: PRICKLE1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B (OMIM:612437)
Gene: PRICKLE1
Phenotype: Morning myoclonic jerks (HP:0007000)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: PRICKLE1
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: PRICKLE1
Phenotype: Progressive (HP:0003676)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B (OMIM:612437)
Gene: PRICKLE1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B (OMIM:612437)
Gene: PRICKLE1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B (OMIM:612437)
Gene: PRICKLE1
Phenotype: Dementia (HP:0000726)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: PRICKLE1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: EPM1; ULD; Unverricht-Lundborg disease; Progressive myoclonus epilepsy type 1; Progressive myoclonic epilepsy type 1 (ORPHA:308)
Gene: ALG10B
Phenotype: Syncope (HP:0001279)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: ALG10B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ALG10B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: ALG10B
Phenotype: Adult onset (HP:0003581)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: ALG10B
Phenotype: Childhood onset (HP:0011463)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: ALG10B
Phenotype: Notched T wave (HP:0034303)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: ALG10B
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ALG10B
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: ALG10B
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: ALG10B
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ALG10B
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: ALG10B
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ALG10B
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: ALG10B
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ALG10B
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: ALG10B
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: ALG10B
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ALG10B
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: ALG10B
Phenotype: Early young adult onset (HP:0025708)
Associated disease: LONG QT SYNDROME 2 (OMIM:613688)
Gene: CFAP251
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 33 (OMIM:618152)
Gene: CFAP251
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 33 (OMIM:618152)
Gene: CFAP251
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 33 (OMIM:618152)
Gene: CFAP251
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 33 (OMIM:618152)
Gene: CFAP251
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease: SPERMATOGENIC FAILURE 33 (OMIM:618152)
Gene: CFAP251
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 33 (OMIM:618152)
Gene: CFAP251
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 33 (OMIM:618152)
Gene: CFAP251
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 33 (OMIM:618152)
Gene: A2ML1
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: OTITIS MEDIA, SUSCEPTIBILITY TO (OMIM:166760)
Gene: A2ML1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OTITIS MEDIA, SUSCEPTIBILITY TO (OMIM:166760)
Gene: A2ML1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: OTITIS MEDIA, SUSCEPTIBILITY TO (OMIM:166760)
Gene: LACC1
Phenotype: Periodic fever (HP:0032323)
Associated disease: JUVENILE ARTHRITIS (OMIM:618795)
Gene: LACC1
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Arthritis (HP:0001369)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Joint swelling (HP:0001386)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JUVENILE ARTHRITIS (OMIM:618795)
Gene: LACC1
Phenotype: Anterior uveitis (HP:0012122)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: JUVENILE ARTHRITIS (OMIM:618795)
Gene: LACC1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Elevated pulmonary artery pressure (HP:0004890)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Non-infectious meningitis (HP:0033430)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)