TaoMedAI/RareMedData huggingface dataset:
Gene: ARL2BP
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL2BP
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL2BP
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Gene: ARL2BP
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Gene: ARL2BP
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Gene: ARL2BP
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL2BP
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Gene: ARL2BP
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL2BP
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Gene: ARL2BP
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Nasal congestion (HP:0001742)
Associated disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Gene: ARL2BP
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL2BP
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Gene: ARL2BP
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL2BP
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARL2BP
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
Gene: ARL2BP
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARL2BP
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CASP14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12 (OMIM:617320)
Gene: CASP14
Phenotype: White scaling skin (HP:0040190)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12 (OMIM:617320)
Gene: RIGI
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Gene: RIGI
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Scoliosis (HP:0002650)
Associated disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Gene: RIGI
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Gene: RIGI
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Joint subluxation (HP:0032153)
Associated disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Gene: RIGI
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Gene: RIGI
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Gene: RIGI
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Short stature (HP:0004322)
Associated disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Gene: RIGI
Phenotype: Aortic valve calcification (HP:0004380)
Associated disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Gene: RIGI
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Childhood onset (HP:0011463)
Associated disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Gene: RIGI
Phenotype: Young adult onset (HP:0011462)
Associated disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Gene: RIGI
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Gene: RIGI
Phenotype: Osteopenia (HP:0000938)
Associated disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Gene: RIGI
Phenotype: Arrhythmia (HP:0011675)
Associated disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Gene: RIGI
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Psoriasiform lesion (HP:0025526)
Associated disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Gene: RIGI
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Gene: RIGI
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIGI
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Glaucoma (HP:0000501)
Associated disease: SINGLETON-MERTEN SYNDROME 2 (OMIM:616298)
Gene: RIGI
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RIGI
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PDSS1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDSS1
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Areflexia (HP:0001284)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDSS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDSS1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDSS1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDSS1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Bulimia (HP:0100739)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDSS1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDSS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDSS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDSS1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDSS1
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Overweight (HP:0025502)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Obesity (HP:0001513)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDSS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Gene: PDSS1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDSS1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDSS1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDSS1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LEMD3
Phenotype: Sclerosis of foot bone (HP:0100925)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Syndactyly (HP:0001159)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Nevus (HP:0003764)
Associated disease: BUSCHKE-OLLENDORFF SYNDROME (OMIM:166700)
Gene: LEMD3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Connective tissue nevi (HP:0100898)
Associated disease: BUSCHKE-OLLENDORFF SYNDROME (OMIM:166700)
Gene: LEMD3
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Tarsal sclerosis (HP:0031051)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: BUSCHKE-OLLENDORFF SYNDROME (OMIM:166700)
Gene: LEMD3
Phenotype: Joint stiffness (HP:0001387)
Associated disease: BUSCHKE-OLLENDORFF SYNDROME (OMIM:166700)
Gene: LEMD3
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Isolated osteopoikilosis (ORPHA:166119)
Gene: LEMD3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LEMD3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LEMD3
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Monosomy 12q14; 12q14 microdeletion syndrome; Deletion 12q14; Del(12)(q14); Osteopoikilosis-short stature-intellectual disability syndrome (ORPHA:94063)
Gene: LEMD3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)