TaoMedAI/RareMedData huggingface dataset:
Gene: PEX19
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX19
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) (OMIM:614886)
Gene: PEX19
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: PEX19
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: PEX19
Phenotype: Cataract (HP:0000518)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX19
Phenotype: Cataract (HP:0000518)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX19
Phenotype: Cataract (HP:0000518)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX19
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: PEX19
Phenotype: Ptosis (HP:0000508)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX19
Phenotype: Visual impairment (HP:0000505)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX19
Phenotype: Visual impairment (HP:0000505)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX19
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: PEX19
Phenotype: Glaucoma (HP:0000501)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX19
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: PEX19
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: ABCD3
Phenotype: Increased total iron binding capacity (HP:0025196)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Gene: ABCD3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Areflexia (HP:0001284)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Bowing of the vocal cords (HP:0008756)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Hepatic failure (HP:0001399)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Gene: ABCD3
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Gene: ABCD3
Phenotype: Impaired oropharyngeal swallow response (HP:0031162)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Gene: ABCD3
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Tibialis muscle weakness (HP:0008963)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Portal hypertension (HP:0001409)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Gene: ABCD3
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Paraplegia (HP:0010550)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Infantile onset (HP:0003593)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Gene: ABCD3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Gene: ABCD3
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Abnormal morphology of musculature of pharynx (HP:0430015)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Progressive (HP:0003676)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Gene: ABCD3
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Gene: ABCD3
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Progressive proximal muscle weakness (HP:0009073)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Jaundice (HP:0000952)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Gene: ABCD3
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Gene: ABCD3
Phenotype: High palate (HP:0000218)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Progressive ptosis (HP:0007838)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Gene: ABCD3
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Gene: ABCD3
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Gene: ABCD3
Phenotype: Abnormality of facial musculature (HP:0000301)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Abnormality of orbicularis oris muscle (HP:3000010)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Abnormality of masseter muscle (HP:3000005)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Gene: ABCD3
Phenotype: Weight loss (HP:0001824)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: Oculopharyngeal distal myopathy; Oculopharyngodistal myopathy; OPDM (ORPHA:98897)
Gene: ABCD3
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Gene: ABCD4
Phenotype: Fetal distress (HP:0025116)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Lethargy (HP:0001254)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Hypotonia (HP:0001252)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Abnormal posturing (HP:0002533)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Tachypnea (HP:0002789)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Homocystinuria (HP:0002156)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Congenital onset (HP:0003577)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Decreased methionine synthase activity (HP:0003524)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Hypomethioninemia (HP:0003658)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Elevated circulating propionylcarnitine concentration (HP:0033443)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Decreased circulating adenosylcobalamin concentration (HP:0003145)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Horizontal ribs (HP:0000888)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Decreased circulating methylcobalamin concentration (HP:0003223)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Growth delay (HP:0001510)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Methylmalonic acidemia (HP:0002912)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Micrognathia (HP:0000347)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Normochromic anemia (HP:0001895)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: ABCD4
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE (OMIM:614857)
Gene: PEX2
Phenotype: Fetal distress (HP:0025116)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX2
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: PEX2
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: PEX2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Areflexia (HP:0001284)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Lethargy (HP:0001254)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Seizure (HP:0001250)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Seizure (HP:0001250)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Seizure (HP:0001250)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Seizure (HP:0001250)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Hypotonia (HP:0001252)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Ataxia (HP:0001251)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Ataxia (HP:0001251)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Dysarthria (HP:0001260)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
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: PEX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Spasticity (HP:0001257)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX2
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
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: PEX2
Phenotype: Increased circulating very long-chain fatty acid concentration (HP:0033643)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Variable expressivity (HP:0003828)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Death in childhood (HP:0003819)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Cholestasis (HP:0001396)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
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: PEX2
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: PEX2
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
Gene: PEX2
Phenotype: Hypospadias (HP:0000047)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
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: PEX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
Gene: PEX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)