TaoMedAI/RareMedData huggingface dataset:
Gene: PPARG
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Loss of subcutaneous adipose tissue in limbs (HP:0003635)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Loss of subcutaneous adipose tissue in limbs (HP:0003635)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PPARG
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: OBESITY (OMIM:601665)
Gene: PPARG
Phenotype: Loss of gluteal subcutaneous adipose tissue (HP:0009017)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Proportionate tall stature (HP:0011407)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Young adult onset (HP:0011462)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Increased C-peptide level (HP:0030796)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Insulin resistance (HP:0000855)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: PPARG
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Hypertension (HP:0000822)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Overgrowth of external genitalia (HP:0003247)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Xanthomatosis (HP:0000991)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 (OMIM:604367)
Gene: PPARG
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Thin skin (HP:0000963)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Loss of facial adipose tissue (HP:0000292)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Obesity (HP:0001513)
Associated disease: OBESITY (OMIM:601665)
Gene: PPARG
Phenotype: Decreased resting energy expenditure (HP:0012340)
Associated disease: OBESITY (OMIM:601665)
Gene: PPARG
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: PPARG
Phenotype: Pancreatitis (HP:0001733)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Familial partial lipodystrophy type 3; FPLD3; PPARG-related familial partial lipodystrophy; PPARG-related FPLD (ORPHA:79083)
Gene: PPARG
Phenotype: Long foot (HP:0001833)
Associated disease: Lipoatrophic diabetes; Congenital generalized lipodystrophy; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; BSCL; CGL (ORPHA:528)
Gene: CTSA
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Seizure (HP:0001250)
Associated disease: Neuraminidase deficiency with beta-galactosidase deficiency; Galactosialidosis; Goldberg syndrome (ORPHA:351)
Gene: CTSA
Phenotype: Seizure (HP:0001250)
Associated disease: GALACTOSIALIDOSIS (OMIM:256540)
Gene: CTSA
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Neuraminidase deficiency with beta-galactosidase deficiency; Galactosialidosis; Goldberg syndrome (ORPHA:351)
Gene: CTSA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GALACTOSIALIDOSIS (OMIM:256540)
Gene: CTSA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GALACTOSIALIDOSIS (OMIM:256540)
Gene: CTSA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Neuraminidase deficiency with beta-galactosidase deficiency; Galactosialidosis; Goldberg syndrome (ORPHA:351)
Gene: CTSA
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: GALACTOSIALIDOSIS (OMIM:256540)
Gene: CTSA
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Decreased beta-galactosidase activity (HP:0008166)
Associated disease: GALACTOSIALIDOSIS (OMIM:256540)
Gene: CTSA
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Neuraminidase deficiency with beta-galactosidase deficiency; Galactosialidosis; Goldberg syndrome (ORPHA:351)
Gene: CTSA
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: Neuraminidase deficiency with beta-galactosidase deficiency; Galactosialidosis; Goldberg syndrome (ORPHA:351)
Gene: CTSA
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: GALACTOSIALIDOSIS (OMIM:256540)
Gene: CTSA
Phenotype: Severe short stature (HP:0003510)
Associated disease: GALACTOSIALIDOSIS (OMIM:256540)
Gene: CTSA
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Hemangioma (HP:0001028)
Associated disease: GALACTOSIALIDOSIS (OMIM:256540)
Gene: CTSA
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Neuraminidase deficiency with beta-galactosidase deficiency; Galactosialidosis; Goldberg syndrome (ORPHA:351)
Gene: CTSA
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Visceromegaly (HP:0003271)
Associated disease: GALACTOSIALIDOSIS (OMIM:256540)
Gene: CTSA
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: GALACTOSIALIDOSIS (OMIM:256540)
Gene: CTSA
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: GALACTOSIALIDOSIS (OMIM:256540)
Gene: CTSA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Neuraminidase deficiency with beta-galactosidase deficiency; Galactosialidosis; Goldberg syndrome (ORPHA:351)
Gene: CTSA
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: GALACTOSIALIDOSIS (OMIM:256540)
Gene: CTSA
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Neuraminidase deficiency with beta-galactosidase deficiency; Galactosialidosis; Goldberg syndrome (ORPHA:351)
Gene: CTSA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: GALACTOSIALIDOSIS (OMIM:256540)
Gene: CTSA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Neuraminidase deficiency with beta-galactosidase deficiency; Galactosialidosis; Goldberg syndrome (ORPHA:351)
Gene: CTSA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: GALACTOSIALIDOSIS (OMIM:256540)
Gene: CTSA
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: GALACTOSIALIDOSIS (OMIM:256540)
Gene: CTSA
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CTSA
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CTSA
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPIB
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)