TaoMedAI/RareMedData huggingface dataset:
Gene: EARS2
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Ptosis (HP:0000508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: EARS2
Phenotype: Visual impairment (HP:0000505)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 (OMIM:614924)
Gene: METTL23
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Gene: METTL23
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Gene: METTL23
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Gene: METTL23
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Gene: METTL23
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Gene: METTL23
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Gene: METTL23
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Gene: METTL23
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Gene: METTL23
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Gene: METTL23
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Gene: METTL23
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Gene: METTL23
Phenotype: Long philtrum (HP:0000343)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Gene: METTL23
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Gene: METTL23
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Gene: METTL23
Phenotype: Pes planus (HP:0001763)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Gene: METTL23
Phenotype: Flat occiput (HP:0005469)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Gene: CANT1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Microtia (HP:0008551)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Motor delay (HP:0001270)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 (OMIM:617719)
Gene: CANT1
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Tapered humerus (HP:0003883)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Spatulate thumbs (HP:0001222)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Waddling gait (HP:0002515)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Dislocated wrist (HP:0003994)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 (OMIM:617719)
Gene: CANT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 (OMIM:617719)
Gene: CANT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Toe hyperphalangy (HP:6000868)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Phalangeal dislocation (HP:0006243)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Abnormal femoral neck/head morphology (HP:0003366)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Spondylolysis (HP:0003304)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Tricuspid stenosis (HP:0010446)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Radial deviation of the 2nd finger (HP:0009467)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Bipartite calcaneus (HP:0008127)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 (OMIM:617719)
Gene: CANT1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Advanced tarsal ossification (HP:0008108)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Bifid distal phalanx of the thumb (HP:0009611)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Mild short stature (HP:0003502)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 (OMIM:617719)
Gene: CANT1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Developmental glaucoma (HP:0001087)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Small hand (HP:0200055)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Narrow vertebral interpedicular distance (HP:0008450)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Triangular shaped phalanges of the hand (HP:0009774)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Short metatarsal (HP:0010743)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Short metatarsal (HP:0010743)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Vertebral wedging (HP:0008422)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 (OMIM:617719)
Gene: CANT1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Partial duplication of the distal phalanx of the hallux (HP:0010097)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Broad first metatarsal (HP:0010068)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 (OMIM:617719)
Gene: CANT1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Accessory carpal bones (HP:0004232)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Microdontia (HP:0000691)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Hypodontia (HP:0000668)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Short stature (HP:0004322)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Short stature (HP:0004322)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Arthropathy (HP:0003040)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)