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Disease Genetic Diseases, X-Linked

Name Genetic Diseases, X-Linked
Synonyms Diseases, X-Linked Genetic | Disease, X-Linked Genetic | Genetic Diseases, X Chromosome Linked | Genetic Diseases, X-Chromosome Linked | Genetic Diseases, X Linked | Genetic Disease, X-Linked | X-Linked Genetic Disease | X Linked Genetic Diseases | X-Linked Genetic Diseases
Definition Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
Categories Genetic disease (inborn)
MeSH® ID D040181

Top ↑ Ancestors

DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, X-Linked Has associated chemicals Has associated genes

Top ↑ Descendants

Genetic Diseases, X-Linked Has associated chemicals Has associated genes
View node Aarskog Syndrome Has associated chemicals Has associated genes
  Abruzzo Erickson syndrome
  Achromatopsia incomplete, X-linked
  Adrenal Hypoplasia, Congenital, with Precocious Puberty
  Agammaglobulinemia, X-linked, type 2
View node Aicardi Syndrome Has associated chemicals Has associated genes
  Aland Island Eye Disease Has associated chemicals Has associated genes
  Alpha-Thalassemia Myelodysplasia Syndrome Has associated chemicals Has associated genes
  Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
  Alzheimer Disease 16
View node Androgen-Insensitivity Syndrome Has associated chemicals Has associated genes
  Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency
  Anemia, sideroblastic spinocerebellar ataxia Has associated chemicals Has associated genes
  Anemia, X-Linked, without Thrombocytopenia
  Anencephaly and spina bifida X-linked
  Aneurysm, Intracranial Berry, 5
  Angioma serpiginosum, X-linked
  Arthrogryposis multiplex congenita, distal, X-linked Has associated chemicals Has associated genes
  Arthrogryposis, X-Linked, Type V
  Arts syndrome Has associated chemicals Has associated genes
  Atypical Mycobacteriosis, Familial, X-Linked 1 Has associated chemicals Has associated genes
  Atypical Mycobacteriosis, Familial, X-Linked 2 Has associated chemicals Has associated genes
View node Barth Syndrome Has associated chemicals Has associated genes
  Bornholm Eye Disease
  Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
  Branchial arch syndrome X-linked
  Brunner Syndrome Has associated chemicals Has associated genes
  Bruton type agammaglobulinemia Has associated chemicals Has associated genes
View node Bulbo-Spinal Atrophy, X-Linked Has associated chemicals Has associated genes
  Bullous Dystrophy, Hereditary Macular Type
  Cardiac valvular dysplasia, X-linked Has associated chemicals Has associated genes
  Cardiomyopathy, Dilated, 3A
  Cataract, congenital, with microcornea or slight microphthalmia Has associated chemicals Has associated genes
  Chondrodysplasia punctata 2, X-linked dominant Has associated chemicals Has associated genes
  Chondrodysplasia punctata, brachytelephalangic Has associated chemicals Has associated genes
View node Choroideremia Has associated chemicals Has associated genes
  Chromosome Xp11.23-P11.22 Duplication Syndrome
  Chromosome Xq28 Duplication Syndrome
  Cleft Palate with Ankyloglossia
  Cleft palate X-linked Has associated chemicals Has associated genes
  Cone Dystrophy, X-Linked, 1
  Cone dystrophy, x-linked, with tapetal-like sheen
  Cone-Rod Dystrophy, X-Linked, 2
  Cone-Rod Dystrophy, X-Linked, 3 Has associated chemicals Has associated genes
  Cone-Rod Dystrophy, X-Linked, Type 1
  Congenital alopecia X-linked
  Congenital Heart Defects, X-Linked
  Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Has associated chemicals Has associated genes
  Congenital idiopathic intestinal pseudoobstruction Has associated chemicals Has associated genes
  Corpus Callosum, Partial Agenesis of, X-Linked Has associated chemicals Has associated genes
  Craniofacioskeletal Syndrome
  Deafness, High-Frequency Sensorineural, X-Linked
  Deafness, X-Linked 1
  Deafness, X-Linked 3
  Deafness, X-Linked 4 Has associated chemicals Has associated genes
  Deafness, X-Linked 5 Has associated chemicals Has associated genes
View node Dent Disease Has associated chemicals Has associated genes
  Dent disease 1 Has associated chemicals Has associated genes
  Dent Disease 2 Has associated chemicals Has associated genes
  Dyserythropoietic Anemia with Thrombocytopenia
View node Dyskeratosis Congenita Has associated chemicals Has associated genes
  Dystonia 3, Torsion, X-Linked Has associated chemicals Has associated genes
View node Ectodermal Dysplasia 1, Anhidrotic Has associated chemicals Has associated genes
  Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Has associated chemicals Has associated genes
  Ectodermal dysplasia, hypohidrotic, with immune deficiency Has associated chemicals Has associated genes
  Ehlers-Danlos syndrome type 5
  Epidermodysplasia Verruciformis, X-Linked
  Epilepsy, Female-Restricted, with Mental Retardation Has associated chemicals Has associated genes
  Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders Has associated chemicals Has associated genes
  Episodic Muscle Weakness, X-Linked
  Exudative Vitreoretinopathy, Familial, X-Linked Recessive
View node Fabry Disease Has associated chemicals Has associated genes
  Hemophilia B Has associated chemicals Has associated genes
  Fetal akinesia syndrome, X-linked
  Fg Syndrome 5
View node Focal Dermal Hypoplasia Has associated chemicals Has associated genes
  Glycogen Storage Disease Type VIII
  Glycogen Storage Disease Type IIb Has associated chemicals Has associated genes
  Glycogen Storage Disease, Type IXA2
  Glycogen Storage Disease, Type IXD Has associated chemicals Has associated genes
View node Granulomatous Disease, Chronic Has associated chemicals Has associated genes
  Heterotaxy, visceral, X-linked Has associated chemicals Has associated genes
  Heterotopia, Periventricular, Ehlers-Danlos Variant Has associated chemicals Has associated genes
  Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia
  Hodgkin disease, X-linked pseudoautosomal
  Hydrocephalus With Cerebellar Agenesis
  Hydrocephalus, X-linked Has associated chemicals Has associated genes
  Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction
  Hyperekplexia and Epilepsy Has associated chemicals Has associated genes
View node Hyper-IgM Immunodeficiency Syndrome, Type 1 Has associated chemicals Has associated genes
  Hypertrichosis congenital generalized X-linked
  Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Has associated chemicals Has associated genes
  Hypogammaglobulinemia, X-Linked
  Hypoparathyroidism, X-Linked
  Hypospadias 1, X-Linked Has associated chemicals Has associated genes
  Hypospadias 2, X-Linked Has associated chemicals Has associated genes
View node Ichthyosis, X-Linked Has associated chemicals Has associated genes
  Ichthyosis, X-Linked, Complicated
  Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Has associated chemicals Has associated genes
  Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein
View node Isolated Noncompaction of the Ventricular Myocardium Has associated chemicals Has associated genes
  Joubert Syndrome 10 Has associated chemicals Has associated genes
  Keratosis Follicularis Spinulosa Decalvans, X-Linked Has associated chemicals Has associated genes
  Leigh Syndrome, X-Linked
  Leukoencephalopathy With Metaphyseal Chondrodysplasia
  Liver Glycogenosis, X-Linked, Type II
  Lymphoproliferative Syndrome, X-Linked, 2 Has associated chemicals Has associated genes
  Macrothrombocytopenia, X-Linked
  Macular Dystrophy, X-Linked
  Major Affective Disorder 2
  Martin-Probst Deafness-Mental Retardation Syndrome Has associated chemicals Has associated genes
  MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome Has associated chemicals Has associated genes
  Megalocornea
  Membranoproliferative Glomerulonephritis, X-Linked
  Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
View node Mental Retardation, X-Linked Has associated chemicals Has associated genes
  Mental Retardation, X-Linked, Syndromic 12
  Mental Retardation, X-Linked, Syndromic, Christianson Type Has associated chemicals Has associated genes
  Mental Retardation, X-Linked, Syndromic, Turner Type Has associated chemicals Has associated genes
  Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related
  Mental Retardation, X-Linked, With Panhypopituitarism Has associated chemicals Has associated genes
  Mental Retardation, X-Linked, Znf711-Related
  Microcephaly microcornea syndrome Seemanova type
  Microphthalmia, Isolated, with Coloboma 1
  Microphthalmia, syndromic 7 Has associated chemicals Has associated genes
  Midline Defects, X-Linked
  Modifier, X-Linked, for Neurofunctional Defects
  Multiple Pterygium Syndrome, X-Linked
View node Muscular Dystrophy, Duchenne Has associated chemicals Has associated genes
View node Muscular Dystrophy, Emery-Dreifuss Has associated chemicals Has associated genes
  Muscular Dystrophy, Progressive Pectorodorsal
  Myopathy, Reducing Body, X-Linked, Childhood-Onset Has associated chemicals Has associated genes
  Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Has associated chemicals Has associated genes
  Myopathy, X-Linked, with Excessive Autophagy Has associated chemicals Has associated genes
  Myopia 1
  Myopia 13
  Nance-Horan syndrome Has associated chemicals Has associated genes
  Nasodigitoacoustic syndrome
  NEMO mutation with immunodeficiency
  Nephrogenic Syndrome of Inappropriate Antidiuresis Has associated chemicals Has associated genes
  Nephrolithiasis, X-Linked Recessive, with Renal Failure Has associated chemicals Has associated genes
  Neural tube defects X-linked
  Neuropathy, Hereditary Sensory, X-Linked
  Neutropenia, Severe Congenital, X-Linked Has associated chemicals Has associated genes
  Night blindness, congenital stationary Has associated chemicals Has associated genes
  Norrie disease Has associated chemicals Has associated genes
  Nystagmus 5, Infantile Periodic Alternating
View node Oculocerebrorenal Syndrome Has associated chemicals Has associated genes
  Ophthalmoplegia, External, and Myopia
  Opitz GBBB Syndrome, X-Linked Has associated chemicals Has associated genes
  Optic atrophy, X-linked
View node Ornithine Carbamoyltransferase Deficiency Disease Has associated chemicals Has associated genes
  Ovarian Dysgenesis 2 Has associated chemicals Has associated genes
  Panhypopituitarism X-linked Has associated chemicals Has associated genes
  Parathyroid Glands, Agenesis Of
  Parkinson Disease 12
  Parkinsonism, early onset with mental retardation
View node Pelizaeus-Merzbacher Disease Has associated chemicals Has associated genes
  Phosphoglycerate Kinase 1 Deficiency Has associated chemicals Has associated genes
  Pigmentary Disorder, Reticulate, with Systemic Manifestations Has associated chemicals Has associated genes
  Premature Ovarian Failure 2a Has associated chemicals Has associated genes
  Progressive hearing loss stapes fixation Has associated chemicals Has associated genes
  Properdin Deficiency, Type II
  Properdin Deficiency, Type III
  Properdin deficiency, X-linked Has associated chemicals Has associated genes
  PROSTATE CANCER, HEREDITARY, X-LINKED 1
  Prostate Cancer, Hereditary, X-Linked 2
  Protoporphyria, Erythropoietic, X-Linked Dominant
  Proud Syndrome Has associated chemicals Has associated genes
  Ptosis, Hereditary Congenital 2
  Radial Ray Deficiency, X-Linked
  Radiation Sensitivity of Natural Killer Activity
  Radius absent anogenital anomalies
  Reticuloendotheliosis, X-linked
  Retinitis Pigmentosa 3 Has associated chemicals Has associated genes
  Retinitis Pigmentosa 34
  Retinitis Pigmentosa 6
  Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness Has associated chemicals Has associated genes
  Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked Has associated chemicals Has associated genes
  Russell-Silver Syndrome, X-Linked
  Short Stature, Idiopathic, X-Linked
  Simpson-Golabi-Behmel syndrome Has associated chemicals Has associated genes
  Simpson-Golabi-Behmel Syndrome, Type 2 Has associated chemicals Has associated genes
  Sketetal dysplasia coarse facies mental retardation
  Spastic paraplegia 16, X-linked
  Spastic paraplegia 2, X-linked Has associated chemicals Has associated genes
  Spastic Paraplegia 34, X-Linked
  Spina Bifida, X-Linked
  Spinal Muscular Atrophy, Distal, X-Linked 3 Has associated chemicals Has associated genes
  Spinocerebellar Ataxia, X-Linked 1
  Spinocerebellar ataxia, X-linked, 3
  Spinocerebellar Ataxia, X-Linked 5
  Split-Hand Foot Malformation 2
  Spondyloepimetaphyseal Dysplasia, X-Linked
  Spondylometaphyseal Dysplasia, X-Linked
  Surfactant Metabolism Dysfunction, Pulmonary, 4
  TERMINAL OSSEOUS DYSPLASIA Has associated chemicals Has associated genes
  Terminal Osseous Dysplasia and Pigmentary Defects
  Testicular Germ Cell Tumor 1
  Thrombocytopenia 1 Has associated chemicals Has associated genes
  Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis Has associated chemicals Has associated genes
  Thrombocytopenia, X-Linked, Intermittent
  Thrombocytosis, Familial X-Linked
  Thrombophilia, X-Linked, Due To Factor Ix Defect Has associated chemicals Has associated genes
  Thyroxine-Binding Globulin Deficiency
  Tooth Agenesis, Selective, X-Linked, 1 Has associated chemicals Has associated genes
  Torticollis keloids cryptorchidism renal dysplasia
  VACTERL Association With Hydrocephalus Has associated chemicals Has associated genes
  Vasquez Hurst Sotos syndrome
  Vesicoureteral Reflux, X-Linked
  Von Willebrand Disease, X-Linked Form
  Wells Jankovic syndrome
  Wieacker syndrome
View node Wiskott-Aldrich Syndrome
  X Inactivation, Familial Skewed, 1
  X Inactivation, Familial Skewed, 2
  X-linked adrenal hypoplasia congenita Has associated chemicals Has associated genes
  X-Linked Chondrodysplasia Punctata 1
View node X-Linked Combined Immunodeficiency Diseases Has associated chemicals Has associated genes
  X-Linked Infantile Nystagmus
  X-linked sideroblastic anemia Has associated chemicals Has associated genes
  X-linked tetra-amelia