TaoMedAI/RareMedData huggingface dataset:
Gene: SLC32A1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12 (OMIM:620755)
Gene: SLC32A1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Sudden unexpected death in epilepsy (HP:0033258)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12 (OMIM:620755)
Gene: SLC32A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Abnormal hair whorl (HP:0010721)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12 (OMIM:620755)
Gene: SLC32A1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Posterior helix pit (HP:0008523)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12 (OMIM:620755)
Gene: SLC32A1
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Synophrys (HP:0000664)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12 (OMIM:620755)
Gene: SLC32A1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Broad phalanx of the toes (HP:0010174)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12 (OMIM:620755)
Gene: SLC32A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Sparse hair (HP:0008070)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Short finger (HP:0009381)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Broad finger (HP:0001500)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Uni- and bilateral multifocal epileptiform discharges (HP:0011190)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Generalized myoclonic-atonic seizure (HP:0011170)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12 (OMIM:620755)
Gene: SLC32A1
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Strabismus (HP:0000486)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SLC32A1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Sandal gap (HP:0001852)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Exotropia (HP:0000577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Gene: SLC32A1
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SUN5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 16 (OMIM:617187)
Gene: SUN5
Phenotype: Androgen insufficiency (HP:0008226)
Associated disease: Acephalic spermatozoa syndrome; Male infertility due to acephalic spermatozoa (ORPHA:529970)
Gene: SUN5
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 16 (OMIM:617187)
Gene: SUN5
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Acephalic spermatozoa syndrome; Male infertility due to acephalic spermatozoa (ORPHA:529970)
Gene: SUN5
Phenotype: Abnormal sperm mid-piece morphology (HP:0012867)
Associated disease: Acephalic spermatozoa syndrome; Male infertility due to acephalic spermatozoa (ORPHA:529970)
Gene: SUN5
Phenotype: Acephalic spermatozoa (HP:0012869)
Associated disease: SPERMATOGENIC FAILURE 16 (OMIM:617187)
Gene: SUN5
Phenotype: Acephalic spermatozoa (HP:0012869)
Associated disease: Acephalic spermatozoa syndrome; Male infertility due to acephalic spermatozoa (ORPHA:529970)
Gene: SUN5
Phenotype: Male infertility (HP:0003251)
Associated disease: Acephalic spermatozoa syndrome; Male infertility due to acephalic spermatozoa (ORPHA:529970)
Gene: SUN5
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 16 (OMIM:617187)
Gene: SUN5
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 16 (OMIM:617187)
Gene: SUN5
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: Acephalic spermatozoa syndrome; Male infertility due to acephalic spermatozoa (ORPHA:529970)
Gene: SUN5
Phenotype: Abnormality of chromosome segregation (HP:0002916)
Associated disease: Acephalic spermatozoa syndrome; Male infertility due to acephalic spermatozoa (ORPHA:529970)
Gene: RPL10L
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: SPERMATOGENIC FAILURE 63 (OMIM:619689)
Gene: RPL10L
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: RPL10L
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: RPL10L
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: RPL10L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 63 (OMIM:619689)
Gene: RPL10L
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: RPL10L
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: RPL10L
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: RPL10L
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE 63 (OMIM:619689)
Gene: RPL10L
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 63 (OMIM:619689)
Gene: RPL10L
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 63 (OMIM:619689)
Gene: RPL10L
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: RPL10L
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 63 (OMIM:619689)
Gene: TRPM6
Phenotype: Tetany (HP:0001281)
Associated disease: HYPOMAGNESEMIA 1, INTESTINAL (OMIM:602014)
Gene: TRPM6
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOMAGNESEMIA 1, INTESTINAL (OMIM:602014)
Gene: TRPM6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOMAGNESEMIA 1, INTESTINAL (OMIM:602014)
Gene: TRPM6
Phenotype: Muscle spasm (HP:0003394)
Associated disease: HYPOMAGNESEMIA 1, INTESTINAL (OMIM:602014)
Gene: TRPM6
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOMAGNESEMIA 1, INTESTINAL (OMIM:602014)
Gene: TRPM6
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: HYPOMAGNESEMIA 1, INTESTINAL (OMIM:602014)
Gene: TRPM6
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: HYPOMAGNESEMIA 1, INTESTINAL (OMIM:602014)
Gene: SLC34A3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Waddling gait (HP:0002515)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Bone pain (HP:0002653)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Bone pain (HP:0002653)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Thin bony cortex (HP:0002753)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Sparse bone trabeculae (HP:0002752)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Rickets (HP:0002748)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Osteomalacia (HP:0002749)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Fibular bowing (HP:0010502)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Calcium nephrolithiasis (HP:0004724)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Elevated alkaline phosphatase of bone origin (HP:0010639)
Associated disease: HHRH; Hereditary hypophosphatemic rickets with hypercalciuria (ORPHA:157215)
Gene: SLC34A3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Difficulty standing (HP:0003698)
Associated disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Gene: SLC34A3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC34A3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC34A3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)