TaoMedAI/RareMedData huggingface dataset:
Gene: PEX2
Phenotype: Micrognathia (HP:0000347)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Round face (HP:0000311)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Heart murmur (HP:0030148)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
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: PEX2
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: PEX2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
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: PEX2
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: PEX2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
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: PEX2
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: PEX2
Phenotype: Strabismus (HP:0000486)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Small nail (HP:0001792)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
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: PEX2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
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: PEX2
Phenotype: Pes cavus (HP:0001761)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
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: PEX2
Phenotype: Cataract (HP:0000518)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Cataract (HP:0000518)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Cataract (HP:0000518)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Cataract (HP:0000518)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX2
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: PEX2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Ptosis (HP:0000508)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Visual impairment (HP:0000505)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
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: PEX2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
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: PEX2
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX2
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
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: PEX2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX5
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: PEX5
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: PEX5
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
Gene: PEX5
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX5
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX5
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Areflexia (HP:0001284)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Seizure (HP:0001250)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX5
Phenotype: Seizure (HP:0001250)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX5
Phenotype: Seizure (HP:0001250)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Seizure (HP:0001250)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
Gene: PEX5
Phenotype: Seizure (HP:0001250)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
Gene: PEX5
Phenotype: Seizure (HP:0001250)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX5
Phenotype: Hypotonia (HP:0001252)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Ataxia (HP:0001251)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
Gene: PEX5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
Gene: PEX5
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: PEX5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
Gene: PEX5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Spasticity (HP:0001257)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX5
Phenotype: Short femoral neck (HP:0100864)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
Gene: PEX5
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX5
Phenotype: Death in childhood (HP:0003819)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Hypospadias (HP:0000047)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX5
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX5
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Swan neck-like deformities of the fingers (HP:0006150)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
Gene: PEX5
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
Gene: PEX5
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
Gene: PEX5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
Gene: PEX5
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX5
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX5
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX5
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Abnormality of the tongue (HP:0000157)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Cleft palate (HP:0000175)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX5
Phenotype: High, narrow palate (HP:0002705)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
Gene: PEX5
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX5
Phenotype: Abnormality of the mitochondrion (HP:0012103)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Stippled chondral calcification (HP:0002764)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Intrahepatic biliary dysgenesis (HP:0001401)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Malabsorption (HP:0002024)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Poor suck (HP:0002033)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Frontal bossing (HP:0002007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
Gene: PEX5
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX5
Phenotype: Palpebral edema (HP:0100540)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Asthma (HP:0002099)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
Gene: PEX5
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX5
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX5
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
Gene: PEX5
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX5
Phenotype: Very long chain fatty acid accumulation (HP:0008167)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX5
Phenotype: Very long chain fatty acid accumulation (HP:0008167)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Elevated circulating long chain fatty acid concentration (HP:0003455)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
Gene: PEX5
Phenotype: Elevated circulating long chain fatty acid concentration (HP:0003455)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Broad-based gait (HP:0002136)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
Gene: PEX5
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX5
Phenotype: Apnea (HP:0002104)
Associated disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
Gene: PEX5
Phenotype: Elevated circulating phytanic acid concentration (HP:0010571)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX5
Phenotype: Vertical nystagmus (HP:0010544)
Associated disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 (OMIM:616716)
Gene: PEX5
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX5
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)