TaoMedAI/RareMedData huggingface dataset:
Gene: PEX7
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Short metacarpal (HP:0010049)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Heart block (HP:0012722)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX7
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX7
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Calcific stippling of infantile cartilaginous skeleton (HP:0005841)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Reduced phytanic acid oxidase activity in cultured fibroblasts (HP:4000163)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Dry skin (HP:0000958)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Ichthyosis (HP:0008064)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Ichthyosis (HP:0008064)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Ichthyosis (HP:0008064)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Ichthyosis (HP:0008064)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Arrhythmia (HP:0011675)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Alopecia (HP:0001596)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Malar flattening (HP:0000272)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX7
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Microcephaly (HP:0000252)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Severe failure to thrive (HP:0001525)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX7
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Flat face (HP:0012368)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Micrognathia (HP:0000347)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Retinopathy (HP:0000488)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Anosmia (HP:0000458)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Anosmia (HP:0000458)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Anosmia (HP:0000458)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Hammertoe (HP:0001765)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Pes cavus (HP:0001761)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Pes cavus (HP:0001761)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Pes cavus (HP:0001761)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Cataract (HP:0000518)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Cataract (HP:0000518)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Cataract (HP:0000518)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Developmental cataract (HP:0000519)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX7
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Ptosis (HP:0000508)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Ptosis (HP:0000508)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Visual impairment (HP:0000505)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX7
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HMSN 4; Heredopathia atactica polyneuritiformis; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Classic Refsum disease; Refsum disease; Phytanic-CoA hydroxylase deficiency; Adult Refsum disease (ORPHA:773)
Gene: PEX7
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX7
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX10
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Abnormal head movements (HP:0002457)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Abnormal circulating phytanic acid concentration (HP:0010965)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Areflexia (HP:0001284)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Seizure (HP:0001250)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Seizure (HP:0001250)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Seizure (HP:0001250)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: Seizure (HP:0001250)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Hypotonia (HP:0001252)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Hypotonia (HP:0001252)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Hypotonia (HP:0001252)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: Hypotonia (HP:0001252)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Ataxia (HP:0001251)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Ataxia (HP:0001251)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Dysarthria (HP:0001260)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)