TaoMedAI/RareMedData huggingface dataset:
Gene: RBBP8
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Microglossia (HP:0000171)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: 4-5 toe syndactyly (HP:0004692)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Congenital onset (HP:0003577)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Congenital onset (HP:0003577)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Microdontia (HP:0000691)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Short stature (HP:0004322)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Short stature (HP:0004322)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Cachexia (HP:0004326)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Absent fourth finger distal interphalangeal crease (HP:0005780)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Retrognathia (HP:0000278)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Narrow face (HP:0000275)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Microcephaly (HP:0000252)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Microcephaly (HP:0000252)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Growth delay (HP:0001510)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Absent earlobe (HP:0000387)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Narrow forehead (HP:0000341)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Sloping forehead (HP:0000340)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Micrognathia (HP:0000347)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Micrognathia (HP:0000347)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Heart murmur (HP:0030148)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Anonychia (HP:0001798)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Prominent nose (HP:0000448)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Prominent nose (HP:0000448)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Sandal gap (HP:0001852)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBBP8
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Hallux valgus (HP:0001822)
Associated disease: JAWAD SYNDROME (OMIM:251255)
Gene: RBBP8
Phenotype: Glaucoma (HP:0000501)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: RBBP8
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Microphthalmia (HP:0000568)
Associated disease: SECKEL SYNDROME 2 (OMIM:606744)
Gene: RBBP8
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RBBP8
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RBL2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Delayed ability to crawl (HP:0033128)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Increased skull ossification (HP:0004330)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Round face (HP:0000311)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Strabismus (HP:0000486)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBL2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME (OMIM:619690)
Gene: RBMY1A1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: RBMY1A1
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: RBMY1A1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: RBMY1A1
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: RBMY1A1
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: RBMY1A1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: RBMY1A1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: RBMY1A1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: RBMY1A1
Phenotype: Male infertility (HP:0003251)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: RBMY1A1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: RBP3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 66 (OMIM:615233)
Gene: RBP3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: RBP3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP3
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 66 (OMIM:615233)
Gene: RBP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: RBP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: RBP3
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP3
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 66 (OMIM:615233)
Gene: RBP3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: RBP3
Phenotype: Adult onset (HP:0003581)
Associated disease: RETINITIS PIGMENTOSA 66 (OMIM:615233)
Gene: RBP3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Central scotoma (HP:0000603)
Associated disease: RETINITIS PIGMENTOSA 66 (OMIM:615233)
Gene: RBP3
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 66 (OMIM:615233)
Gene: RBP3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: RBP3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP3
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP3
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP3
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: RETINITIS PIGMENTOSA 66 (OMIM:615233)
Gene: RBP3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 66 (OMIM:615233)
Gene: RBP3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP3
Phenotype: Abnormality of fundus pigmentation (HP:0031605)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: RBP3
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 66 (OMIM:615233)
Gene: RBP3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)