TaoMedAI/RareMedData huggingface dataset:
Gene: ISCU
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Subsarcolemmal accumulations of abnormally shaped mitochondria (HP:0003548)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Abnormal iron deposition in mitochondria (HP:0008306)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Frequent falls (HP:0002359)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Palpitations (HP:0001962)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Sideroblastic anemia (HP:0001924)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Anemia (HP:0001903)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Myopathy (HP:0003198)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: ISCU
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (OMIM:255125)
Gene: TGDS
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Narrow naris (HP:0009933)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Seizure (HP:0001250)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Joint dislocation (HP:0001373)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Scoliosis (HP:0002650)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Overriding aorta (HP:0002623)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Bifid uvula (HP:0000193)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Narrow mouth (HP:0000160)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Glossoptosis (HP:0000162)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Glossoptosis (HP:0000162)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Cleft palate (HP:0000175)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Cleft palate (HP:0000175)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Ulnar deviation of the 2nd finger (HP:0009464)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Radial deviation of the 2nd finger (HP:0009467)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Metatarsus valgus (HP:0010508)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Low insertion of columella (HP:0010763)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Short metacarpal (HP:0010049)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Short stature (HP:0004322)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Short humerus (HP:0005792)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Short femur (HP:0003097)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Oral synechia (HP:0010285)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Full cheeks (HP:0000293)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Full cheeks (HP:0000293)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Malar flattening (HP:0000272)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: High palate (HP:0000218)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Genu valgum (HP:0002857)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Palatodigital syndrome, Catel-Manzke type; Micrognathia digital syndrome; Index finger anomaly-Pierre Robin syndrome; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Catel-Manzke syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Gene: TGDS
Phenotype: Low-set ears (HP:0000369)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TGDS
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TGDS
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Gene: TGDS
Phenotype: Micrognathia (HP:0000347)
Associated disease: CATEL-MANZKE SYNDROME (OMIM:616145)