TaoMedAI/RareMedData huggingface dataset:
Gene: PEX1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
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: PEX1
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Frequent falls (HP:0002359)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
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: PEX1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Abnormality of nail color (HP:0100643)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Protruding tongue (HP:0010808)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
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: PEX1
Phenotype: Brushfield spots (HP:0001088)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX1
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: PEX1
Phenotype: Hypoplastic olfactory lobes (HP:0006894)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
Phenotype: Nystagmus (HP:0000639)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
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: PEX1
Phenotype: Abnormal nasolacrimal system morphology (HP:0000614)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
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: PEX1
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: PEX1
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: PEX1
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
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: PEX1
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Taurodontia (HP:0000679)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Short stature (HP:0004322)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Short stature (HP:0004322)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Short stature (HP:0004322)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
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: PEX1
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: PEX1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: HEIMLER SYNDROME 1 (OMIM:234580)
Gene: PEX1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX1
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Hyperoxaluria (HP:0003159)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Jaundice (HP:0000952)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
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: PEX1
Phenotype: Epicanthus (HP:0000286)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Epicanthus (HP:0000286)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
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: PEX1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
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: PEX1
Phenotype: Malar flattening (HP:0000272)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: HEIMLER SYNDROME 1 (OMIM:234580)
Gene: PEX1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX1
Phenotype: Brachyturricephaly (HP:0000244)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: High palate (HP:0000218)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
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: PEX1
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: PEX1
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: PEX1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
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: PEX1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX1
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: HEIMLER SYNDROME 1 (OMIM:234580)
Gene: PEX1
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Flat face (HP:0012368)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
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: PEX1
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: PEX1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
Phenotype: Low-set ears (HP:0000369)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: High forehead (HP:0000348)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: High forehead (HP:0000348)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
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: PEX1
Phenotype: Micrognathia (HP:0000347)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Round face (HP:0000311)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
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: PEX1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
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: PEX1
Phenotype: Breech presentation (HP:0001623)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
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: PEX1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
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: PEX1
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: PEX1
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: PEX1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HEIMLER SYNDROME 1 (OMIM:234580)
Gene: PEX1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
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: PEX1
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: PEX1
Phenotype: Strabismus (HP:0000486)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
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: PEX1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
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: PEX1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)