TaoMedAI/RareMedData huggingface dataset:
Gene: DLL3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Abnormal odontoid process morphology (HP:0003310)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Block vertebrae (HP:0003305)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Urogenital fistula (HP:0100589)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Back pain (HP:0003418)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Severe short stature (HP:0003510)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Fetal onset (HP:0011461)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Rib fusion (HP:0000902)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Rib fusion (HP:0000902)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Abdominal distention (HP:0003270)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Short thorax (HP:0010306)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Kyphosis (HP:0002808)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Death in infancy (HP:0001522)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Long philtrum (HP:0000343)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Broad forehead (HP:0000337)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Rib segmentation abnormalities (HP:0006655)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Short neck (HP:0000470)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLDN16
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Tetany (HP:0001281)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Proteinuria (HP:0000093)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Low serum calcitriol (HP:0012052)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Hypomature enamel (HP:0033786)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Polyuria (HP:0000103)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Rickets (HP:0002748)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Vomiting (HP:0002013)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Sterile pyuria (HP:0100586)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Hypocalcemic seizures (HP:0002199)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Distal renal tubular acidosis (HP:0008341)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Renal magnesium wasting (HP:0005567)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Nystagmus (HP:0000639)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Hypermagnesiuria (HP:0012608)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Acidosis (HP:0001941)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Polydipsia (HP:0001959)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Short metacarpal (HP:0010049)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Renal calcium wasting (HP:0012637)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Short stature (HP:0004322)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Abnormal circulating calcium concentration (HP:0004363)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Young adult onset (HP:0011462)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Hematuria (HP:0000790)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Hyposthenuria (HP:0003158)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Hyperuricosuria (HP:0003149)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Elevated circulating parathyroid hormone level (HP:0003165)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Hypertension (HP:0000822)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Genu valgum (HP:0002857)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Hyperphosphatemia (HP:0002905)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Increased circulating beta-C-terminal telopeptide concentration (HP:0031425)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Astigmatism (HP:0000483)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Strabismus (HP:0000486)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Hypocitraturia (HP:0012405)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Hypercitraturia (HP:0012406)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Hypermetropia (HP:0000540)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CLDN16
Phenotype: Myopia (HP:0000545)
Associated disease: HYPOMAGNESEMIA 3, RENAL (OMIM:248250)
Gene: CNPY3
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Gene: CNPY3
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Gene: CNPY3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Gene: CNPY3
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Gene: CNPY3
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease:  (ORPHA:697160)
Gene: CNPY3
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Gene: CNPY3
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Gene: CNPY3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Gene: CNPY3
Phenotype: Myoclonus (HP:0001336)
Associated disease:  (ORPHA:697160)
Gene: CNPY3
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Gene: CNPY3
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Gene: CNPY3
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Gene: CNPY3
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Gene: CNPY3
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60 (OMIM:617929)
Gene: CNPY3
Phenotype: Developmental regression (HP:0002376)
Associated disease:  (ORPHA:697160)
Gene: CNPY3
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease:  (ORPHA:697160)