TaoMedAI/RareMedData huggingface dataset:
Gene: OBSL1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Decreased fertility (HP:0000144)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Severe short stature (HP:0003510)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Scapular winging (HP:0003691)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Scapular winging (HP:0003691)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Abnormality of the elbow (HP:0009811)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Enlarged thorax (HP:0100625)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Short stature (HP:0004322)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Short stature (HP:0004322)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Fetal onset (HP:0011461)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Slender long bone (HP:0003100)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Slender long bone (HP:0003100)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Hypoplastic ischia (HP:0003175)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Hypoplastic pubic bone (HP:0003173)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Horizontal ribs (HP:0000888)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Thin ribs (HP:0000883)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Thin ribs (HP:0000883)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Short 5th finger (HP:0009237)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Increased vertebral height (HP:0004570)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Short thorax (HP:0010306)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Short thorax (HP:0010306)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Malar flattening (HP:0000272)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Kyphosis (HP:0002808)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: High palate (HP:0000218)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Long philtrum (HP:0000343)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Long philtrum (HP:0000343)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Broad forehead (HP:0000337)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Micromelia (HP:0002983)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Triangular face (HP:0000325)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Triangular face (HP:0000325)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Pointed chin (HP:0000307)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Pointed chin (HP:0000307)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Short neck (HP:0000470)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Short neck (HP:0000470)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Prominent calcaneus (HP:0012428)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Protruding ear (HP:0000411)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Protruding ear (HP:0000411)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: OBSL1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: THREE M SYNDROME 2 (OMIM:612921)
Gene: OBSL1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: OBSL1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: OBSL1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARHGEF18
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARHGEF18
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Visual field defect (HP:0001123)
Associated disease: RETINITIS PIGMENTOSA 78 (OMIM:617433)
Gene: ARHGEF18
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARHGEF18
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 78 (OMIM:617433)
Gene: ARHGEF18
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARHGEF18
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARHGEF18
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 78 (OMIM:617433)
Gene: ARHGEF18
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARHGEF18
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARHGEF18
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 78 (OMIM:617433)
Gene: ARHGEF18
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARHGEF18
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARHGEF18
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 78 (OMIM:617433)
Gene: ARHGEF18
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARHGEF18
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Photopsia (HP:0030786)
Associated disease: RETINITIS PIGMENTOSA 78 (OMIM:617433)
Gene: ARHGEF18
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: RETINITIS PIGMENTOSA 78 (OMIM:617433)
Gene: ARHGEF18
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARHGEF18
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARHGEF18
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARHGEF18
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARHGEF18
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: ARHGEF18
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 78 (OMIM:617433)
Gene: ARHGEF18
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ARHGEF18
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPECC1L
Phenotype: Broad palm (HP:0001169)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)
Gene: SPECC1L
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome; Brachycephalofrontonasal dysplasia (ORPHA:1519)
Gene: SPECC1L
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: HYPERTELORISM, TEEBI TYPE (OMIM:145420)