TaoMedAI/RareMedData huggingface dataset:
Gene: PEX2
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: PEX2
Phenotype: Tremor (HP:0001337)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX2
Phenotype: Dysmetria (HP:0001310)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Pachygyria (HP:0001302)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
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: PEX2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
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: PEX2
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: PEX2
Phenotype: Cleft palate (HP:0000175)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX2
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: PEX2
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Renal cyst (HP:0000107)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Stippled chondral calcification (HP:0002764)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Decreased liver function (HP:0001410)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Intrahepatic biliary dysgenesis (HP:0001401)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Malabsorption (HP:0002024)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
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: PEX2
Phenotype: Poor suck (HP:0002033)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
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: PEX2
Phenotype: Palpebral edema (HP:0100540)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
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: PEX2
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: PEX2
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
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: PEX2
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: PEX2
Phenotype: Very long chain fatty acid accumulation (HP:0008167)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
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: PEX2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Renal cortical microcysts (HP:0004734)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
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: PEX2
Phenotype: Elevated circulating phytanic acid concentration (HP:0010571)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Elevated circulating phytanic acid concentration (HP:0010571)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
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)
Gene: PEX2
Phenotype: Infantile onset (HP:0003593)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Congenital onset (HP:0003577)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Facial palsy (HP:0010628)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Optic nerve dysplasia (HP:0001093)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Brushfield spots (HP:0001088)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Brushfield spots (HP:0001088)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Athetosis (HP:0002305)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX2
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Nystagmus (HP:0000639)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Difficulty running (HP:0009046)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Short stature (HP:0004322)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Short stature (HP:0004322)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Short stature (HP:0004322)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX2
Phenotype: Childhood onset (HP:0011463)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX2
Phenotype: Death in adolescence (HP:0011421)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Persistent open anterior fontanelle (HP:0004474)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Jaundice (HP:0000952)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Jaundice (HP:0000952)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Epicanthus (HP:0000286)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX2
Phenotype: Large fontanelles (HP:0000239)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: High palate (HP:0000218)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: High palate (HP:0000218)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Death in infancy (HP:0001522)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Death in infancy (HP:0001522)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Vegetative state (HP:0031358)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Colpocephaly (HP:0030048)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Flat face (HP:0012368)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Flat face (HP:0012368)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Low-set ears (HP:0000369)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: High forehead (HP:0000348)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: High forehead (HP:0000348)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: High forehead (HP:0000348)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)