TaoMedAI/RareMedData huggingface dataset:
Gene: CANT1
Phenotype: Deviation of the 5th finger (HP:0009179)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Short nose (HP:0003196)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Shield chest (HP:0000914)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 (OMIM:617719)
Gene: CANT1
Phenotype: Decreased hip abduction (HP:0003184)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 (OMIM:617719)
Gene: CANT1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Limited hip extension (HP:0003093)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 (OMIM:617719)
Gene: CANT1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Medial deviation of the foot (HP:0008082)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Sparse hair (HP:0008070)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Diminished sulfotransferase activity in cultured fibroblasts (HP:6000970)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Malar flattening (HP:0000272)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Malar flattening (HP:0000272)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Fixed elbow flexion (HP:0006471)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Generalized bone demineralization (HP:0006462)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Radioulnar dislocation (HP:0006439)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Coxa vara (HP:0002812)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Coxa vara (HP:0002812)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Arthralgia (HP:0002829)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Kyphosis (HP:0002808)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Proximal fibular overgrowth (HP:0005067)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: High palate (HP:0000218)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Growth delay (HP:0001510)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Obesity (HP:0001513)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Flat face (HP:0012368)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Broad forehead (HP:0000337)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Breech presentation (HP:0001623)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Genu varum (HP:0002970)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 (OMIM:617719)
Gene: CANT1
Phenotype: Microretrognathia (HP:0000308)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Short neck (HP:0000470)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Short nail (HP:0001799)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CANT1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Sandal gap (HP:0001852)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: CANT1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Proptosis (HP:0000520)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Glaucoma (HP:0000501)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CANT1
Phenotype: Shallow orbits (HP:0000586)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CANT1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CANT1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CANT1
Phenotype: Myopia (HP:0000545)
Associated disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Gene: USH1G
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1G
Phenotype: Ataxia (HP:0001251)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Intellectual disability (HP:0001249)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Global developmental delay (HP:0001263)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1G
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE IG (OMIM:606943)
Gene: USH1G
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1G
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1G
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1G
Phenotype: Hypoplasia of the nasal bone (HP:0004646)
Associated disease: USHER SYNDROME, TYPE IG (OMIM:606943)
Gene: USH1G
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Schizophrenia (HP:0100753)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: High hypermetropia (HP:0008499)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1G
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1G
Phenotype: Nyctalopia (HP:0000662)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Hallucinations (HP:0000738)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Anxiety (HP:0000739)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Depression (HP:0000716)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1G
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1G
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1G
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1G
Phenotype: Hemianopia (HP:0012377)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Abnormal cochlea morphology (HP:0000375)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: USHER SYNDROME, TYPE IG (OMIM:606943)
Gene: USH1G
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: USHER SYNDROME, TYPE IG (OMIM:606943)
Gene: USH1G
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Cataract (HP:0000518)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1G
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: USHER SYNDROME, TYPE IG (OMIM:606943)
Gene: USH1G
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Scotoma (HP:0000575)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1G
Phenotype: Visual loss (HP:0000572)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1G
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1G
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM132E
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 99 (OMIM:618481)
Gene: TMEM132E
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 99 (OMIM:618481)
Gene: TMEM132E
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 99 (OMIM:618481)
Gene: TMEM132E
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 99 (OMIM:618481)
Gene: SPNS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 115 (OMIM:618457)
Gene: SPNS2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 115 (OMIM:618457)
Gene: WDR81
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: WDR81
Phenotype: Seizure (HP:0001250)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)