TaoMedAI/RareMedData huggingface dataset:
Gene: SUMF1
Phenotype: Ataxia (HP:0001251)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Spasticity (HP:0001257)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Large forehead (HP:0002003)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Periorbital edema (HP:0100539)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Mucopolysacchariduria (HP:0008155)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Mucopolysacchariduria (HP:0008155)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Coarse hair (HP:0002208)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Broad hallux (HP:0010055)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Broad thumb (HP:0011304)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Broad thumb (HP:0011304)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Short stature (HP:0004322)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Short stature (HP:0004322)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Flat face (HP:0012368)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Cataract (HP:0000518)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: SUMF1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Multiple sulfatase deficiency; MSD; Austin disease; Mucosulfatidosis (ORPHA:585)
Gene: SUMF1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SUMF1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SUMF1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: MULTIPLE SULFATASE DEFICIENCY (OMIM:272200)
Gene: CYP4V2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CYP4V2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY (OMIM:210370)
Gene: CYP4V2
Phenotype: Large central visual field defect (HP:0001129)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CYP4V2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY (OMIM:210370)
Gene: CYP4V2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CYP4V2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CYP4V2
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY (OMIM:210370)
Gene: CYP4V2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CYP4V2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY (OMIM:210370)
Gene: CYP4V2
Phenotype: Chorioretinal degeneration (HP:0200065)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CYP4V2
Phenotype: Paracentral scotoma (HP:0030528)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Paracentral scotoma (HP:0030528)
Associated disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY (OMIM:210370)
Gene: CYP4V2
Phenotype: Blindness (HP:0000618)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Central scotoma (HP:0000603)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Choriocapillaris atrophy (HP:0030491)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CYP4V2
Phenotype: Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CYP4V2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CYP4V2
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Crystalline corneal dystrophy (HP:0007760)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CYP4V2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CYP4V2
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Subretinal deposits (HP:0031528)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Marginal corneal dystrophy (HP:0007880)
Associated disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY (OMIM:210370)
Gene: CYP4V2
Phenotype: High myopia (HP:0011003)
Associated disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY (OMIM:210370)
Gene: CYP4V2
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CYP4V2
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY (OMIM:210370)
Gene: CYP4V2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CYP4V2
Phenotype: Corneal crystals (HP:0000531)
Associated disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY (OMIM:210370)
Gene: CYP4V2
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY (OMIM:210370)
Gene: CYP4V2
Phenotype: Color vision defect (HP:0000551)
Associated disease: Bietti crystalline dystrophy; Bietti crystalline corneoretinal dystrophy; BCD; Bietti crystalline retinopathy (ORPHA:41751)
Gene: CYP4V2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY (OMIM:210370)