TaoMedAI/RareMedData huggingface dataset:
Gene: NFS1
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Death in infancy (HP:0001522)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: NFS1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52 (OMIM:619386)
Gene: SLC7A7
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Hypolysinemia (HP:0500142)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Lethargy (HP:0001254)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Hypotonia (HP:0001252)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Coma (HP:0001259)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Coma (HP:0001259)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Steatorrhea (HP:0002570)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Bone marrow hypercellularity (HP:0031020)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Abnormal renal tubule morphology (HP:0000091)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Proteinuria (HP:0000093)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Hepatic failure (HP:0001399)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Cirrhosis (HP:0001394)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Floppy infant (HP:0008947)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Nausea (HP:0002018)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Diarrhea (HP:0002014)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Diarrhea (HP:0002014)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Vomiting (HP:0002013)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Vomiting (HP:0002013)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Protein avoidance (HP:0002038)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Infantile onset (HP:0003593)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Ornithinuria (HP:0003532)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Fine hair (HP:0002213)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Abnormal circulating immunoglobulin concentration (HP:0010701)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Elevated plasma citrulline (HP:0011966)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Megakaryocytopenia (HP:0005548)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Truncal obesity (HP:0001956)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Anemia (HP:0001903)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Anemia (HP:0001903)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Renal amyloidosis (HP:0001917)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Short stature (HP:0004322)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Malnutrition (HP:0004395)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Psychotic episodes (HP:0000725)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Hematuria (HP:0000790)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Increased serum zinc (HP:0011424)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Reduced circulating complement concentration (HP:0004431)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Renal fibrosis (HP:0030760)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Hypertension (HP:0000822)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Hyperglutaminemia (HP:0003217)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Oroticaciduria (HP:0003218)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Oroticaciduria (HP:0003218)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Pulmonary hemorrhage (HP:0040223)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Hyperlysinuria (HP:0003297)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Hyperlysinuria (HP:0003297)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Argininuria (HP:0003268)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Cutis laxa (HP:0000973)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Osteoporosis (HP:0000939)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Osteoporosis (HP:0000939)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Osteopenia (HP:0000938)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Sparse hair (HP:0008070)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Hepatic amyloidosis (HP:0012280)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Abnormal circulating serine concentration (HP:0012278)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Growth delay (HP:0001510)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Intraalveolar phospholipid accumulation (HP:0006517)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Intraalveolar phospholipid accumulation (HP:0006517)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Abnormality of humoral immunity (HP:0005368)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Pancreatitis (HP:0001733)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Pancreatitis (HP:0001733)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Splenomegaly (HP:0001744)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Membranous nephropathy (HP:0012578)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Oral aversion (HP:0012523)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: SLC7A7
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: LPI; Lysinuric protein intolerance; Hyperdibasic aminoaciduria (ORPHA:470)
Gene: SLC7A7
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Gene: PAPSS2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES (OMIM:612847)
Gene: PAPSS2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES (OMIM:612847)
Gene: PAPSS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Spondyloepimetaphyseal dysplasia (HP:0002651)
Associated disease: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES (OMIM:612847)
Gene: PAPSS2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES (OMIM:612847)
Gene: PAPSS2
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES (OMIM:612847)
Gene: PAPSS2
Phenotype: Lumbar scoliosis (HP:0004626)
Associated disease: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES (OMIM:612847)
Gene: PAPSS2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Acne (HP:0001061)
Associated disease: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES (OMIM:612847)
Gene: PAPSS2
Phenotype: Hirsutism (HP:0001007)
Associated disease: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES (OMIM:612847)
Gene: PAPSS2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Lower limb undergrowth (HP:0009816)
Associated disease: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES (OMIM:612847)
Gene: PAPSS2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PAPSS2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PAPSS2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)