TaoMedAI/RareMedData huggingface dataset:
Gene: SPP1
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Chest pain (HP:0100749)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Headache (HP:0002315)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Myositis (HP:0100614)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Hemiplegia (HP:0002301)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Antiphospholipid antibody positivity (HP:0003613)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Fever (HP:0001945)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Microangiopathic hemolytic anemia (HP:0001937)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Reduced consciousness (HP:0004372)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Psychosis (HP:0000709)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Hematuria (HP:0000790)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Skin rash (HP:0000988)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Edema (HP:0000969)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Alopecia (HP:0001596)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Arthralgia (HP:0002829)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Ascites (HP:0001541)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPP1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: SPP1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SLE, pediatric onset; Pediatric systemic lupus erythematosus (ORPHA:93552)
Gene: SPR
Phenotype: Reduced sepiapterin reductase activity in cultured fibroblasts (HP:6000563)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Motor delay (HP:0001270)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Seizure (HP:0001250)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Seizure (HP:0001250)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Ataxia (HP:0001251)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Spasticity (HP:0001257)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Dystonia (HP:0001332)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Dystonia (HP:0001332)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Tremor (HP:0001337)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Tremor (HP:0001337)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Temperature instability (HP:0005968)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Bradykinesia (HP:0002067)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Rigidity (HP:0002063)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Transient hyperphenylalaninemia (HP:0008297)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Infantile onset (HP:0003593)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Frequent falls (HP:0002359)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Drowsiness (HP:0002329)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Hyperphenylalaninemia (HP:0004923)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Hyperactivity (HP:0000752)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Depression (HP:0000716)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Atypical behavior (HP:0000708)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)