TaoMedAI/RareMedData huggingface dataset:
Gene: TRIP11
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Abnormal enchondral ossification (HP:0003336)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Biconvex vertebral bodies (HP:0004625)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Femoral hernia (HP:0100541)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Respiratory distress (HP:0002098)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Unossified vertebral bodies (HP:0004606)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Small epiphyses (HP:0010585)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Abnormal foot bone ossification (HP:0010675)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Severe limb shortening (HP:0200083)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Abnormal hand bone ossification (HP:0010660)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Severe short stature (HP:0003510)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Protruding tongue (HP:0010808)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Short palm (HP:0004279)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Short palm (HP:0004279)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Short metacarpal (HP:0010049)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Short stature (HP:0004322)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Short stature (HP:0004322)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Second trimester onset (HP:0034198)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Short long bone (HP:0003026)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Mesomelia (HP:0003027)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Metaphyseal cupping (HP:0003021)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Narrow chest (HP:0000774)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Narrow chest (HP:0000774)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Narrow chest (HP:0000774)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Narrow chest (HP:0000774)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Short ribs (HP:0000773)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Lethal skeletal dysplasia (HP:0005716)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Short nose (HP:0003196)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Short nose (HP:0003196)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Short nose (HP:0003196)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Broad clavicles (HP:0000916)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Platyspondyly (HP:0000926)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Hypoplastic ischia (HP:0003175)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Flaring of rib cage (HP:0000904)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Short clavicles (HP:0000894)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Square pelvis bone (HP:0003278)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Hypoplastic sacrum (HP:0004590)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Short thorax (HP:0010306)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Short thorax (HP:0010306)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Osteoporosis (HP:0000939)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Retrognathia (HP:0000278)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Turricephaly (HP:0000262)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Narrow face (HP:0000275)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Death in infancy (HP:0001522)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Death in infancy (HP:0001522)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Flat face (HP:0012368)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Flat face (HP:0012368)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Bowing of the arm (HP:0006488)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Abnormal femoral metaphysis morphology (HP:0006489)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Low-set ears (HP:0000369)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Long philtrum (HP:0000343)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Long philtrum (HP:0000343)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Micrognathia (HP:0000347)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Micromelia (HP:0002983)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Micromelia (HP:0002983)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Micromelia (HP:0002983)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Micromelia (HP:0002983)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Genu varum (HP:0002970)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Multiple rib fractures (HP:0006640)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Multiple rib fractures (HP:0006640)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Hypoplastic nasal bridge (HP:0005281)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Strabismus (HP:0000486)
Associated disease: Goldblatt syndrome; Goldblatt chondrodysplasia; Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; Odontochondrodysplasia; ODCD (ORPHA:166272)
Gene: TRIP11
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Short neck (HP:0000470)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Short neck (HP:0000470)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Short foot (HP:0001773)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ACHONDROGENESIS, TYPE IA (OMIM:200600)
Gene: TRIP11
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Achondrogenesis type 1A; Achondrogenesis, Houston-Harris type (ORPHA:93299)
Gene: TRIP11
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP11
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Prominent forehead (HP:0011220)
Associated disease: ODONTOCHONDRODYSPLASIA 1 (OMIM:184260)
Gene: TRIP11
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIP11
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIP4
Phenotype: Minicore myopathy (HP:0003789)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)
Gene: TRIP4
Phenotype: Poor head control (HP:0002421)
Associated disease: Congenital muscular dystrophy, Davignon-Chauveau type; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome (ORPHA:486815)
Gene: TRIP4
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 (OMIM:616866)