TaoMedAI/RareMedData huggingface dataset:
Gene: PEPD
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Carious teeth (HP:0000670)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Recurrent cystitis (HP:0012786)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Childhood onset (HP:0011463)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Short nose (HP:0003196)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Pruritus (HP:0000989)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Dry skin (HP:0000958)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Petechiae (HP:0000967)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Thin skin (HP:0000963)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: High palate (HP:0000218)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Genu valgum (HP:0002857)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Abnormality of the middle ear (HP:0000370)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Micrognathia (HP:0000347)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Micrognathia (HP:0000347)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Proptosis (HP:0000520)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Proptosis (HP:0000520)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Ptosis (HP:0000508)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Visual impairment (HP:0000505)
Associated disease: Hyperimidodipeptiduria; Prolidase deficiency (ORPHA:742)
Gene: PEPD
Phenotype: Prominent forehead (HP:0011220)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: PEPD
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PROLIDASE DEFICIENCY (OMIM:170100)
Gene: GATB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 (OMIM:618838)
Gene: GATB
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 (OMIM:618838)
Gene: GATB
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 (OMIM:618838)
Gene: GATB
Phenotype: Anemia (HP:0001903)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 (OMIM:618838)
Gene: GATB
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 (OMIM:618838)
Gene: GATB
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 (OMIM:618838)
Gene: GATB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 (OMIM:618838)
Gene: GATB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 (OMIM:618838)
Gene: GATB
Phenotype: Premature birth (HP:0001622)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 (OMIM:618838)
Gene: GATB
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 (OMIM:618838)
Gene: GATB
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 (OMIM:618838)
Gene: PEX1
Phenotype: Large hands (HP:0001176)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX1
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: PEX1
Phenotype: Pili torti (HP:0003777)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Ulnar deviation of the hand or of fingers of the hand (HP:0001193)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
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: PEX1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Subependymal cysts (HP:0002416)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
Phenotype: Areflexia (HP:0001284)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Seizure (HP:0001250)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Seizure (HP:0001250)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
Phenotype: Seizure (HP:0001250)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Seizure (HP:0001250)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
Phenotype: Seizure (HP:0001250)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Ataxia (HP:0001251)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HEIMLER SYNDROME 1 (OMIM:234580)
Gene: PEX1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
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: PEX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
Phenotype: Spasticity (HP:0001257)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
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: PEX1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Death in childhood (HP:0003819)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
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: PEX1
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: PEX1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
Phenotype: Hypospadias (HP:0000047)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
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: PEX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEIMLER SYNDROME 1 (OMIM:234580)
Gene: PEX1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
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: PEX1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX1
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: PEX1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
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: PEX1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Macroglossia (HP:0000158)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
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: PEX1
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: HEIMLER SYNDROME 1 (OMIM:234580)
Gene: PEX1
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: PEX1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: Renal cyst (HP:0000107)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
Phenotype: Intrahepatic biliary dysgenesis (HP:0001401)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
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: PEX1
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Dysphagia (HP:0002015)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
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: PEX1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
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: PEX1
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: PEX1
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: PEX1
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: PEX1
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: PEX1
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Elevated circulating long chain fatty acid concentration (HP:0003455)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: Renal cortical microcysts (HP:0004734)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
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: PEX1
Phenotype: Muscle flaccidity (HP:0010547)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
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: PEX1
Phenotype: Infantile onset (HP:0003593)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Infantile onset (HP:0003593)
Associated disease: HEIMLER SYNDROME 1 (OMIM:234580)
Gene: PEX1
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: PEX1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)