TaoMedAI/RareMedData huggingface dataset:
Gene: PEX6
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: High forehead (HP:0000348)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: High forehead (HP:0000348)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Micrognathia (HP:0000347)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Round face (HP:0000311)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Premature birth (HP:0001622)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HEIMLER SYNDROME 2 (OMIM:616617)
Gene: PEX6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Strabismus (HP:0000486)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Pes planus (HP:0001763)
Associated disease: HEIMLER SYNDROME 2 (OMIM:616617)
Gene: PEX6
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Flat occiput (HP:0005469)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Cataract (HP:0000518)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Cataract (HP:0000518)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Cataract (HP:0000518)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: Autosomal recessive spinocerebellar ataxia type 3; SCAR3; Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; SCABD; Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome (ORPHA:95433)
Gene: PEX6
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Beau's lines (HP:0041093)
Associated disease: HEIMLER SYNDROME 2 (OMIM:616617)
Gene: PEX6
Phenotype: Leukonychia (HP:0001820)
Associated disease: HEIMLER SYNDROME 2 (OMIM:616617)
Gene: PEX6
Phenotype: Ptosis (HP:0000508)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Visual impairment (HP:0000505)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Visual impairment (HP:0000505)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Glaucoma (HP:0000501)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Epicanthus inversus (HP:0000537)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX6
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX7
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX7
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Abnormal pyramidal sign (HP:0007256)
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: Intellectual disability, severe (HP:0010864)
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: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Seizure (HP:0001250)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Ataxia (HP:0001251)
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: Ataxia (HP:0001251)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Ataxia (HP:0001251)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Spasticity (HP:0001257)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Renal insufficiency (HP:0000083)
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: Flexion contracture (HP:0001371)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Multiple epiphyseal dysplasia (HP:0002654)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Skeletal dysplasia (HP:0002652)
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: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Rhizomelia (HP:0008905)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Cleft palate (HP:0000175)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Short fourth metatarsal (HP:0004689)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Frontal bossing (HP:0002007)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Respiratory insufficiency (HP:0002093)
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: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Abnormal epiphysis morphology (HP:0005930)
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: Somatic sensory dysfunction (HP:0003474)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Nail dysplasia (HP:0002164)
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: Elevated circulating phytanic acid concentration (HP:0010571)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Elevated circulating phytanic acid concentration (HP:0010571)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Elevated circulating phytanic acid concentration (HP:0010571)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Total anosmia (HP:0010632)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Severe short stature (HP:0003510)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (OMIM:215100)
Gene: PEX7
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Developmental regression (HP:0002376)
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: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Peripheral neuropathy (HP:0009830)
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 phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
Gene: PEX7
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX7
Phenotype: Nystagmus (HP:0000639)
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: Nystagmus (HP:0000639)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Gene: PEX7
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX7
Phenotype: Miosis (HP:0000616)
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: Miosis (HP:0000616)
Associated disease: REFSUM DISEASE, CLASSIC (OMIM:266500)