TaoMedAI/RareMedData huggingface dataset:
Gene: TNFRSF11A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11A
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Increased head circumference (HP:0040194)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11A
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Death in infancy (HP:0001522)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Growth delay (HP:0001510)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: FAMILIAL EXPANSILE OSTEOLYSIS (OMIM:174810)
Gene: TNFRSF11A
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: FAMILIAL EXPANSILE OSTEOLYSIS (OMIM:174810)
Gene: TNFRSF11A
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Juvenile Paget disease; Familial osteoectasia; JPG; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis (ORPHA:2801)
Gene: TNFRSF11A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Femoral bowing (HP:0002980)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: TNFRSF11A
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Gene: TNFRSF11A
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Multiple rib fractures (HP:0006640)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: FAMILIAL EXPANSILE OSTEOLYSIS (OMIM:174810)
Gene: TNFRSF11A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Splenomegaly (HP:0001744)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF11A
Phenotype: Proptosis (HP:0000520)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Gene: TNFRSF11A
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TNFRSF11A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TNFRSF10B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SQUAMOUS CELL CARCINOMA, HEAD AND NECK (OMIM:275355)
Gene: TNFRSF10B
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: SQUAMOUS CELL CARCINOMA, HEAD AND NECK (OMIM:275355)
Gene: PEX11B
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: PEX11B
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: PEX11B
Phenotype: Hypertonia (HP:0001276)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
Phenotype: Areflexia (HP:0001284)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
Phenotype: Seizure (HP:0001250)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Seizure (HP:0001250)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: Seizure (HP:0001250)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Hypotonia (HP:0001252)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Hypotonia (HP:0001252)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: Ataxia (HP:0001251)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
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: PEX11B
Phenotype: Spasticity (HP:0001257)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
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: PEX11B
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
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: PEX11B
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: PEX11B
Phenotype: Hypospadias (HP:0000047)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
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: PEX11B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
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: PEX11B
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: PEX11B
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: PEX11B
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: PEX11B
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
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: PEX11B
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Malabsorption (HP:0002024)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
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: PEX11B
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: PEX11B
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: PEX11B
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: PEX11B
Phenotype: Migraine (HP:0002076)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
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: PEX11B
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: PEX11B
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: PEX11B
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
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: PEX11B
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
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: PEX11B
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: PEX11B
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
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: PEX11B
Phenotype: Facial palsy (HP:0010628)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
Phenotype: Developmental regression (HP:0002376)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
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: PEX11B
Phenotype: EEG abnormality (HP:0002353)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
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: PEX11B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
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: PEX11B
Phenotype: Nystagmus (HP:0000639)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Nystagmus (HP:0000639)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: Nystagmus (HP:0000639)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
Phenotype: Nystagmus (HP:0000639)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
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: PEX11B
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: PEX11B
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: PEX11B
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: PEX11B
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: PEX11B
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Short stature (HP:0004322)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Short stature (HP:0004322)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
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: PEX11B
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: PEX11B
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX11B
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Dry skin (HP:0000958)
Associated disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Gene: PEX11B
Phenotype: Jaundice (HP:0000952)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX11B
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX11B
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)