Genes?

Curated: Autosomal recessive ataxia, Hypogonadism, Peroxisome biogenesis disorder, Retinitis pigmentosa, Zellweger spectrum disorder

Unreviewed: Addison`s Disease, Adrenoleukodystrophy, Attention Deficit Hyperactivity Disorder, Cardiomyopathy, Cataract, Cerebellar ataxia, Cerebellar atrophy, Congenital Camptodactyly, Congenital Clubfoot, Congenital Epicanthus, Congenital heart defects, Cryptorchidism, Cubitus valgus, Developmental Delay, Developmental regression, Dolichocephaly, Dwarfism, Dysarthria, Facial paralysis, Glaucoma, Hearing Loss, High palate, Hydronephrosis, Hypertrophy Of Clitoris, Hypospadias, Hypotonia, Ichthyosis, Impaired Cognition, Infantile Refsum Disease, Lipoidosis, Liver failure, Macrocephaly, Malabsorption Syndrome, Malformation of cortical development, Mental retardation, Microcephaly, Micrognathism, Multicystic renal dysplasia, Nyctalopia, Nystagmus, Oculomotor apraxia, Oculovestibuloauditory Syndrome, Optic Atrophy, Osteochondrodysplasia, Pachygyria, Polymicrogyria, Posterior embryotoxon, Ptosis, Refsum Disease, Retinitis Pigmentosa, Rod-cone dystrophy, Skeletal Dysplasia, Strabismus, Trichohepatoenteric Syndrome, Ventricular septal defect, Zellweger Syndrome, Zellweger-Like Syndrome

Curated: Heimler syndrome, Optic atrophy, Peroxisome biogenesis disorder, Zellweger spectrum disorder

Unreviewed: Addison`s Disease, Adrenoleukodystrophy, Adrenomyeloneuropathy, Amelogenesis imperfecta, Atrial Fibrillation, Cardiomyopathy, Cataract, Congenital Clubfoot, Congenital Epicanthus, Cryptorchidism, Deafness Enamel Hypoplasia Nail Defects, Dental Enamel Hypoplasia, Developmental Delay, Developmental regression, Dolichocephaly, Dwarfism, Facial paralysis, Glaucoma, Hearing Loss, High palate, Hydronephrosis, Hypertrophy Of Clitoris, Hypospadias, Hypotonia, Ichthyosis, Impaired Cognition, Infantile Refsum Disease, Lissencephaly, Liver failure, Lung neoplasms, Macrocephaly, Malabsorption Syndrome, Malformation of cortical development, Melanoma, Microcephaly, Micrognathism, Multicystic renal dysplasia, Nyctalopia, Nystagmus, Optic Atrophy, Osteochondrodysplasia, Patent ductus arteriosus, Patent foramen ovale, Polymicrogyria, Polymicrogyria With Optic Nerve Hypoplasia, Posterior embryotoxon, Posteriorly Rotated Ear, Ptosis, Refsum Disease, Retinal Dystrophy, Rod-cone dystrophy, Skeletal Dysplasia, Strabismus, Ventricular septal defect, Zellweger Syndrome, Zellweger-Like Syndrome

Curated: Peroxisome biogenesis disorder, Zellweger spectrum disorder

Unreviewed: Addison`s Disease, Adrenoleukodystrophy, Cardiomyopathy, Cataract, Congenital Epicanthus, Cryptorchidism, Developmental Delay, Developmental regression, Dolichocephaly, Dwarfism, Epithelial ovarian carcinoma, Facial paralysis, Glaucoma, Hearing Loss, High palate, Hydronephrosis, Hydrops Fetalis, Hypertrophy Of Clitoris, Hypospadias, Ichthyosis, Impaired Cognition, Infantile Refsum Disease, Liver failure, Macrocephaly, Malabsorption Syndrome, Malformation of cortical development, Melanoma, Mental retardation, Microcephaly, Micrognathism, Multicystic renal dysplasia, Nephrocalcinosis, Neurogenic Urinary Bladder, Nyctalopia, Nystagmus, Optic Atrophy, Osteochondrodysplasia, Polymicrogyria, Posterior embryotoxon, Posteriorly Rotated Ear, Ptosis, Refsum Disease, Rod-cone dystrophy, Skeletal Dysplasia, Spastic Paraplegia, Strabismus, Ventricular septal defect, Zellweger Syndrome, Zellweger-Like Syndrome

Curated: Coronary artery disease, Ocular sarcoidosis

Unreviewed: N/A

Curated: Chondrodysplasia, Desbuquois syndrome, Peroxisome biogenesis disorder, Rhizomelic chondrodysplasia punctata, Zellweger spectrum disorder

Unreviewed: Acrocephaly, Addison`s Disease, Adrenoleukodystrophy, Amyotrophy, Asthma, Cardiomyopathy, Cataract, Chondrodysplasia Punctata, Colon Carcinoma, Congenital Camptodactyly, Congenital Cataract, Congenital Clubfoot, Congenital Epicanthus, Congenital heart defects, Congenital Hypoplasia Of Thymus, Cryptorchidism, Cubitus valgus, Developmental Delay, Developmental regression, Dolichocephaly, Dwarfism, Epilepsy, Esotropia, Facial paralysis, Frontal bossing, Glaucoma, Hearing Loss, Hepatocellular carcinoma, High palate, Hydronephrosis, Hypertrophy Of Clitoris, Hypospadias, Ichthyosis, Impaired Cognition, Infantile Refsum Disease, Liver carcinoma, Liver failure, Liver neoplasms, Macrocephaly, Malabsorption Syndrome, Malformation of cortical development, Mental retardation, Microcephaly, Micrognathism, Mulibrey Nanism, Multicystic renal dysplasia, Nervous System Diseases, Nyctalopia, Nystagmus, Optic Atrophy, Osteochondrodysplasia, Peripheral Neuropathy, Peroxisomal disorder, Polycystic kidney disease, Polymicrogyria, Posterior embryotoxon, Ptosis, Refsum Disease, Retinitis Pigmentosa, Rod-cone dystrophy, Sensory neuropathy, Sinus Tachycardia, Skeletal Dysplasia, Squamous cell carcinoma, Strabismus, Ventricular septal defect, Vertical nystagmus, Zellweger Syndrome

Curated: Bipolar disorder, Major depressive disorder, Lung cancer, Scoliosis, Throat disease, Diabetes mellitus type 2

Unreviewed: Colorectal Cancer, Diabetes Mellitus, Epilepsy, Mental Depression, Zellweger Syndrome

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: N/A

Curated: Alzheimer disease, Cerebellar ataxia, Spinocerebellar ataxia blindness deafness syndrome, Central nervous system demyelinating disease, Deafness enamel hypoplasia nail defects, Deafness-enamel hypoplasia-nail defects syndrome, Desbuquois syndrome, Global developmental delay, Heimler syndrome, Intellectual developmental disorder, Leukodystrophy, Peripheral neuropathy, Peroxisome biogenesis disorder, Retinitis pigmentosa, Hearing loss, Spinocerebellar ataxia, Zellweger spectrum disorder

Unreviewed: Acanthosis Nigricans, Addison`s Disease, Adrenoleukodystrophy, Amyotrophy, Basal cell carcinoma, Cardiomyopathy, Cataract, Cerebellar Ataxia, Congenital Epicanthus, Conjunctival Telangiectasis, Contracture Of Hamstring, Cryptorchidism, Deafness Enamel Hypoplasia Nail Defects, Dental Enamel Hypoplasia, Developmental Delay, Developmental regression, Diabetes Mellitus, Dolichocephaly, Dwarfism, Dysmorphic Features, Endometrioid carcinoma, Esophagus Neoplasm, Facial dysmorphism syndrome, Facial paralysis, Glaucoma, Hearing Loss, Heimler Syndrome, High palate, Hydronephrosis, Hypersensitivity, Hypertrophy Of Clitoris, Hypocalcification of dental enamel, Hypogonadism, Hypospadias, Hypotonia, Ichthyosis, Impaired Cognition, Infantile Refsum Disease, Liver failure, Lymphoma, Macrocephaly, Malabsorption Syndrome, Malformation of cortical development, Melanoma, Mental retardation, Microcephaly, Micrognathism, Microphthalmos, Microtia, Multicystic renal dysplasia, Nephrolithiasis, Nervous System Disorder, Neurodegenerative Disorders, Nyctalopia, Nystagmus, Optic Atrophy, Osteochondrodysplasia, Osteopenia, Physiologic Amenorrhea, Polymicrogyria, Posterior embryotoxon, Prostate cancer, Prostatic neoplasm, Ptosis, Refsum Disease, Renal cyst, Respiratory Failure, Retinal Dystrophy, Rod-cone dystrophy, Scoliosis, Sensorimotor neuropathy, Sensory neuropathy, Sepsis, Skeletal Dysplasia, Spinocerebellar Ataxia, Spinocerebellar Ataxia-Blindness-Deafness Syndrome, Strabismus, Taurodontism, Thoracolumbar scoliosis, Ureterocele, Usher Syndrome, Ventricular septal defect, Zellweger Syndrome, Zellweger-Like Syndrome

Curated: Refsum disease, Chondrodysplasia, Connective tissue disease, Desbuquois syndrome, Intellectual developmental disorder, Peroxisome biogenesis disorder, Retinitis pigmentosa, Rhizomelic chondrodysplasia punctata

Unreviewed: Acquired Kyphoscoliosis, Adrenoleukodystrophy, Alopecia, Astigmatism, Ataxia, Autism spectrum disorder, Cardiomyopathy, Cataract, Cerebral cortical atrophy, Chondrodysplasia Punctata, Congenital kyphoscoliosis, Congestive Heart Failure, Developmental regression, Disorder Of Eye, Dwarfism, Frontal bossing, Hearing Loss, Heart Block, Hemiplegia/hemiparesis, Huntington Disease, Ichthyosis, Infantile Refsum Disease, Mental retardation, Microcephaly, Micrognathism, Microphthalmos, Miosis Disorder, Multiple Epiphyseal Dysplasia, Myopia, Nail Diseases, Nail dysplasia, Nervous System Diseases, Nyctalopia, Nystagmus, Osteochondrodysplasia, Peroxisomal disorder, Polyneuropathy, Ptosis, Refsum Disease, Renal Insufficiency, Retinal Diseases, Rhizomelia, Rod-cone dystrophy, Sensorimotor neuropathy, Skeletal Dysplasia, Zellweger Syndrome