TaoMedAI/RareMedData huggingface dataset:
Gene: RRM2B
Phenotype: Glycosuria (HP:0003076)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: Poor appetite (HP:0004396)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Anxiety (HP:0000739)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Anxiety (HP:0000739)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: Depression (HP:0000716)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Dementia (HP:0000726)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Dementia (HP:0000726)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Childhood onset (HP:0011463)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: Young adult onset (HP:0011462)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Myopathy (HP:0003198)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Myopathy (HP:0003198)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Abnormality of the spinocerebellar tracts (HP:0003133)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Small intestinal dysmotility (HP:0012850)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Goiter (HP:0000853)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Hyperthyroidism (HP:0000836)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Edema (HP:0000969)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Abnormality of the extraocular muscles (HP:0008049)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: High palate (HP:0000218)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Fatigue (HP:0012378)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Fatigue (HP:0012378)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Dysphonia (HP:0001618)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Abnormal atrioventricular conduction (HP:0005150)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: Third degree atrioventricular block (HP:0001709)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Cataract (HP:0000518)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Cataract (HP:0000518)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: Weight loss (HP:0001824)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Weight loss (HP:0001824)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: RRM2B
Phenotype: Ptosis (HP:0000508)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Ptosis (HP:0000508)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Ptosis (HP:0000508)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Visual impairment (HP:0000505)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Visual impairment (HP:0000505)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: Glaucoma (HP:0000501)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 (OMIM:613077)
Gene: RRM2B
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: Kearns-Sayre syndrome (ORPHA:480)
Gene: RRM2B
Phenotype: Esotropia (HP:0000565)
Associated disease: Adult-onset CPEO with mitochondrial myopathy; Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy (ORPHA:329336)
Gene: RRM2B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION (OMIM:268315)
Gene: RRM2B
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Gene: RRM2B
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: Autosomal dominant progressive external ophthalmoplegia; adPEO (ORPHA:254892)
Gene: RRM2B
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
Gene: SMARCAL1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Stroke (HP:0001297)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Stroke (HP:0001297)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Motor delay (HP:0001270)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Seizure (HP:0001250)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Decreased naive CD8 T cell proportion (HP:0410377)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Abnormal naive CD4-positive T cell proportion (HP:0410373)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Waddling gait (HP:0002515)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Proteinuria (HP:0000093)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Wide capital femoral epiphyses (HP:0008784)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Arteriosclerosis (HP:0002634)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMARCAL1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMARCAL1
Phenotype: Abnormal primary molar morphology (HP:0006344)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Nephropathy (HP:0000112)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Abnormal femoral head morphology (HP:0003368)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Gene: SMARCAL1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Gene: SMARCAL1
Phenotype: Dyspnea (HP:0002094)
Associated disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)