TaoMedAI/RareMedData huggingface dataset:
Gene: ATP9A
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: ATP9A
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES (OMIM:620242)
Gene: GPC6
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Limited hip movement (HP:0008800)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Rhizomelia (HP:0008905)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Rhizomelia (HP:0008905)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Hypoplastic distal humeri (HP:0005025)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Hypoplastic distal humeri (HP:0005025)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Increased fibular diameter (HP:0012107)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Hernia (HP:0100790)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Axillary pterygium (HP:0001060)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Pterygium (HP:0001059)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Hemangioma (HP:0001028)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Popliteal pterygium (HP:0009756)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Short stature (HP:0004322)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Limited knee extension (HP:0003066)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Mesomelia (HP:0003027)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Short tibia (HP:0005736)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Short nose (HP:0003196)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Short nose (HP:0003196)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Short humerus (HP:0005792)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Epicanthus (HP:0000286)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Malar flattening (HP:0000272)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Abnormal morphology of the radius (HP:0002818)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Limited knee flexion/extension (HP:0005085)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Anterolateral radial head dislocation (HP:0005050)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Limited elbow flexion/extension (HP:0005060)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Limited knee flexion (HP:0006389)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Limited elbow flexion (HP:0006376)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Flat face (HP:0012368)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Low-set ears (HP:0000369)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Long philtrum (HP:0000343)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Long philtrum (HP:0000343)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Micrognathia (HP:0000347)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Micrognathia (HP:0000347)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Micromelia (HP:0002983)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Micromelic dysplasia-dislocation of radius syndrome; Autosomal recessive omodysplasia (ORPHA:93329)
Gene: GPC6
Phenotype: Short neck (HP:0000470)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC6
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: OMODYSPLASIA 1 (OMIM:258315)
Gene: GPC6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC6
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: USH1C
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1C
Phenotype: Absent vestibular function (HP:0008555)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: USH1C
Phenotype: Motor delay (HP:0001270)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: USH1C
Phenotype: Ataxia (HP:0001251)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Intellectual disability (HP:0001249)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Global developmental delay (HP:0001263)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: USH1C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE IC (OMIM:276904)
Gene: USH1C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
Gene: USH1C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1C
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1C
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1C
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Infantile onset (HP:0003593)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: USH1C
Phenotype: Schizophrenia (HP:0100753)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: USHER SYNDROME, TYPE IC (OMIM:276904)
Gene: USH1C
Phenotype: High hypermetropia (HP:0008499)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1C
Phenotype: Nystagmus (HP:0000639)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: USH1C
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1C
Phenotype: Nyctalopia (HP:0000662)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Hallucinations (HP:0000738)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Anxiety (HP:0000739)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Depression (HP:0000716)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1C
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1C
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1C
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1C
Phenotype: Hemianopia (HP:0012377)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Abnormal cochlea morphology (HP:0000375)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: USH1C
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
Gene: USH1C
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: USHER SYNDROME, TYPE IC (OMIM:276904)
Gene: USH1C
Phenotype: Cataract (HP:0000518)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1C
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: USH1C
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: USHER SYNDROME, TYPE IC (OMIM:276904)
Gene: USH1C
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: USH1C
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Scotoma (HP:0000575)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: USH1C
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH1C
Phenotype: Visual loss (HP:0000572)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)