TaoMedAI/RareMedData huggingface dataset:
Gene: TRPC6
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TRPC6
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: TRPS1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Bone pain (HP:0002653)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Narrow palate (HP:0000189)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Floppy infant (HP:0008947)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Swelling of proximal interphalangeal joints (HP:0006253)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Abnormal blood phosphate concentration (HP:0100529)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Shortening of all phalanges of fingers (HP:0011910)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Chin with horizontal crease (HP:0011823)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Congenital onset (HP:0003577)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Fine hair (HP:0002213)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Fine hair (HP:0002213)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Exostoses (HP:0100777)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Scapular winging (HP:0003691)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Short metatarsal (HP:0010743)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Short metatarsal (HP:0010743)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Short metatarsal (HP:0010743)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Short palm (HP:0004279)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Long upper lip (HP:0011341)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Dental crowding (HP:0000678)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Microdontia (HP:0000691)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Carious teeth (HP:0000670)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Short stature (HP:0004322)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Short stature (HP:0004322)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Short stature (HP:0004322)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Short stature (HP:0004322)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Abnormal circulating calcium concentration (HP:0004363)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Abnormality of alkaline phosphatase level (HP:0004379)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Aplasia/Hypoplasia of the mandible (HP:0009118)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Cone-shaped epiphyses of the proximal phalanges of the hand (HP:0010270)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Cone-shaped epiphyses of the middle phalanges of the hand (HP:0010259)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Cone-shaped epiphyses of the middle phalanges of the hand (HP:0010259)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Ivory epiphyses of the distal phalanges of the hand (HP:0010252)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPS1
Phenotype: Coxa magna (HP:0003279)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Coxa magna (HP:0003279)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Abnormally low-pitched voice (HP:0010300)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Osteopenia (HP:0000938)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Osteopenia (HP:0000938)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Sparse hair (HP:0008070)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Sparse hair (HP:0008070)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)
Gene: TRPS1
Phenotype: Short finger (HP:0009381)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Concave nail (HP:0001598)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Arthralgia (HP:0002829)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Accelerated bone age after puberty (HP:0002805)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Accelerated bone age after puberty (HP:0002805)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Multiple long-bone exostoses (HP:0005039)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPS1
Phenotype: Redundant skin (HP:0001582)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
Gene: TRPS1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Gene: TRPS1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Langer-Giedion syndrome; Trichorhinophalangeal syndrome type 2 (ORPHA:502)
Gene: TRPS1
Phenotype: High palate (HP:0000218)
Associated disease: Trichorhinophalangeal syndrome type 1 (ORPHA:77258)