genetic diseases, X-linked

Preferred Label : genetic diseases, X-linked;

MeSH 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.;

MeSH synonym : x-linked genetic disease; genetic diseases, x-chromosome linked; genetic diseases, x chromosome linked; diseases, x-linked genetic; disease, x-linked genetic; genetic disease, x-linked; x-linked genetic diseases; x linked genetic diseases; genetic diseases, X linked;

Details

Origin ID

D040181;

UMLS CUI

C1138434;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- X chromosome linked disorder [Disease (Nov.)]
- X-linked chromosomal disorder [MedDRA Preferred Term]
- X-linked hereditary disease (disorder) [SNOMED CT concept]
- X-linked monogenic disease [DO Concept]
Indexing information
- AMELX protein, human [MeSH Supplementary Concept]
- Mid1 protein, human [MeSH Supplementary Concept]
Record concept(s)
- genetic diseases, X-Linked [MeSH concept]
Related MeSH Supplementary Concept(s)
- Aarskog syndrome [MeSH Supplementary Concept]
- Alpha-Thalassemia myelodysplasia syndrome [MeSH Supplementary Concept]
- Barlow syndrome [MeSH Supplementary Concept]
- Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia [MeSH Supplementary Concept]
- Cone-Rod dystrophy, X-Linked, 2 [MeSH Supplementary Concept]
- Cone-Rod dystrophy, X-Linked, 3 [MeSH Supplementary Concept]
- Cone-Rod dystrophy, X-Linked, type 1 [MeSH Supplementary Concept]
- Dyggve-Melchior-Clausen syndrome [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome type 5 [MeSH Supplementary Concept]
- MASA (Mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome [MeSH Supplementary Concept]
- Martin-Probst Deafness-Mental retardation syndrome [MeSH Supplementary Concept]
- NEMO mutation with immunodeficiency [MeSH Supplementary Concept]
- Nance-Horan syndrome [MeSH Supplementary Concept]
- Russell-Silver syndrome, X-Linked [MeSH Supplementary Concept]
- Simpson-Golabi-Behmel syndrome [MeSH Supplementary Concept]
- Simpson-Golabi-Behmel syndrome, type 2 [MeSH Supplementary Concept]
- Skeletal dysplasia coarse facies mental retardation [MeSH Supplementary Concept]
- Split-Hand foot malformation 2 [MeSH Supplementary Concept]
- Thyroxine-Binding globulin deficiency [MeSH Supplementary Concept]
- VACTERL association with hydrocephalus [MeSH Supplementary Concept]
- X inactivation, familial skewed, 1 [MeSH Supplementary Concept]
- X inactivation, familial skewed, 2 [MeSH Supplementary Concept]
- X-Linked chondrodysplasia punctata 1 [MeSH Supplementary Concept]
- X-Linked infantile nystagmus [MeSH Supplementary Concept]
- X-linked sideroblastic anemia [MeSH Supplementary Concept]
- X-linked tetra-amelia [MeSH Supplementary Concept]
- abruzzo erickson syndrome [MeSH Supplementary Concept]
- achromatopsia incomplete, X-linked [MeSH Supplementary Concept]
- adrenal hypoplasia, congenital, with precocious puberty [MeSH Supplementary Concept]
- agammaglobulinemia, X-linked, type 2 [MeSH Supplementary Concept]
- aland island eye disease [MeSH Supplementary Concept]
- alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis [MeSH Supplementary Concept]
- alzheimer disease 16 [MeSH Supplementary Concept]
- anemia, X-Linked, without thrombocytopenia [MeSH Supplementary Concept]
- anemia, nonspherocytic hemolytic, due to G6pd deficiency [MeSH Supplementary Concept]
- anemia, sideroblastic spinocerebellar ataxia [MeSH Supplementary Concept]
- anencephaly and spina bifida X-linked [MeSH Supplementary Concept]
- aneurysm, intracranial berry, 5 [MeSH Supplementary Concept]
- angioma serpiginosum, X-linked [MeSH Supplementary Concept]
- arthrogryposis multiplex congenita, distal, X-linked [MeSH Supplementary Concept]
- arthrogryposis, X-Linked, type V [MeSH Supplementary Concept]
- arts syndrome [MeSH Supplementary Concept]
- atypical mycobacteriosis, familial, X-Linked 2 [MeSH Supplementary Concept]
- bornholm eye disease [MeSH Supplementary Concept]
- branchial arch syndrome X-linked [MeSH Supplementary Concept]
- brunner syndrome [MeSH Supplementary Concept]
- bruton type agammaglobulinemia [MeSH Supplementary Concept]
- bullous dystrophy, hereditary macular type [MeSH Supplementary Concept]
- cantu syndrome [MeSH Supplementary Concept]
- cardiac valvular dysplasia, X-linked [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 3A [MeSH Supplementary Concept]
- cataract, congenital, with microcornea or slight microphthalmia [MeSH Supplementary Concept]
- chromosome Xp11.23-P11.22 duplication syndrome [MeSH Supplementary Concept]
- chromosome Xq28 duplication syndrome [MeSH Supplementary Concept]
- cleft palate X-linked [MeSH Supplementary Concept]
- cleft palate with ankyloglossia [MeSH Supplementary Concept]
- cone dystrophy, X-Linked, 1 [MeSH Supplementary Concept]
- cone dystrophy, x-linked, with tapetal-like sheen [MeSH Supplementary Concept]
- congenital alopecia X-linked [MeSH Supplementary Concept]
- congenital heart defects, X-Linked [MeSH Supplementary Concept]
- congenital hemidysplasia with ichthyosiform erythroderma and limb defects [MeSH Supplementary Concept]
- congenital idiopathic intestinal pseudoobstruction [MeSH Supplementary Concept]
- corpus callosum, partial agenesis of, X-Linked [MeSH Supplementary Concept]
- craniofacioskeletal syndrome [MeSH Supplementary Concept]
- deafness, High-Frequency sensorineural, X-Linked [MeSH Supplementary Concept]
- deafness, X-Linked 1 [MeSH Supplementary Concept]
- deafness, X-Linked 3 [MeSH Supplementary Concept]
- deafness, X-Linked 4 [MeSH Supplementary Concept]
- deafness, X-Linked 5 [MeSH Supplementary Concept]
- dent disease 1 [MeSH Supplementary Concept]
- dent disease 2 [MeSH Supplementary Concept]
- dyserythropoietic anemia with thrombocytopenia [MeSH Supplementary Concept]
- dystonia 3, torsion, X-Linked [MeSH Supplementary Concept]
- ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema [MeSH Supplementary Concept]
- ectodermal dysplasia, hypohidrotic, with immune deficiency [MeSH Supplementary Concept]
- epidermodysplasia verruciformis, X-Linked [MeSH Supplementary Concept]
- epilepsy, Female-Restricted, with mental retardation [MeSH Supplementary Concept]
- epilepsy, X-Linked, with variable learning disabilities and behavior disorders [MeSH Supplementary Concept]
- episodic muscle weakness, X-Linked [MeSH Supplementary Concept]
- exudative vitreoretinopathy, familial, X-Linked recessive [MeSH Supplementary Concept]
- fetal akinesia syndrome, X-linked [MeSH Supplementary Concept]
- fg syndrome 5 [MeSH Supplementary Concept]
- glycogen storage disease, type IXA2 [MeSH Supplementary Concept]
- glycogen storage disease, type IXD [MeSH Supplementary Concept]
- heterotaxy, visceral, X-linked [MeSH Supplementary Concept]
- heterotopia, periventricular nodular, with frontometaphyseal dysplasia [MeSH Supplementary Concept]
- heterotopia, periventricular, Ehlers-Danlos variant [MeSH Supplementary Concept]
- hodgkin disease, X-linked pseudoautosomal [MeSH Supplementary Concept]
- hydrocephalus with cerebellar agenesis [MeSH Supplementary Concept]
- hydrocephalus, X-Linked, with congenital idiopathic intestinal pseudoobstruction [MeSH Supplementary Concept]
- hydrocephalus, X-linked [MeSH Supplementary Concept]
- hyperekplexia and epilepsy [MeSH Supplementary Concept]
- hypertrichosis congenital generalized X-linked [MeSH Supplementary Concept]
- hypogammaglobulinemia and isolated growth hormone deficiency, X-linked [MeSH Supplementary Concept]
- hypogammaglobulinemia, X-Linked [MeSH Supplementary Concept]
- hypoparathyroidism, X-Linked [MeSH Supplementary Concept]
- hypospadias 1, X-Linked [MeSH Supplementary Concept]
- hypospadias 2, X-Linked [MeSH Supplementary Concept]
- ichthyosis, X-Linked, complicated [MeSH Supplementary Concept]
- immune dysregulation, polyendocrinopathy, enteropathy, X-Linked syndrome [MeSH Supplementary Concept]
- immunodeficiency, X-Linked, with deficiency of 115,000 dalton surface glycoprotein [MeSH Supplementary Concept]
- joubert syndrome 10 [MeSH Supplementary Concept]
- keratosis follicularis spinulosa decalvans, X-Linked [MeSH Supplementary Concept]
- leigh syndrome, X-Linked [MeSH Supplementary Concept]
- liver glycogenosis, X-Linked, type II [MeSH Supplementary Concept]
- lymphoproliferative syndrome, X-Linked, 2 [MeSH Supplementary Concept]
- macrothrombocytopenia, X-Linked [MeSH Supplementary Concept]
- macular dystrophy, X-Linked [MeSH Supplementary Concept]
- major affective disorder 2 [MeSH Supplementary Concept]
- megalocornea [MeSH Supplementary Concept]
- membranoproliferative glomerulonephritis, X-Linked [MeSH Supplementary Concept]
- mental retardation, X-Linked, Znf711-Related [MeSH Supplementary Concept]
- mental retardation, X-Linked, syndromic 12 [MeSH Supplementary Concept]
- mental retardation, X-Linked, syndromic, Zdhhc9-Related [MeSH Supplementary Concept]
- mental retardation, X-Linked, syndromic, christianson type [MeSH Supplementary Concept]
- mental retardation, X-Linked, syndromic, turner type [MeSH Supplementary Concept]
- mental retardation, X-Linked, with panhypopituitarism [MeSH Supplementary Concept]
- mental retardation, skeletal dysplasia, and abducens palsy [MeSH Supplementary Concept]
- microphthalmia, isolated, with coloboma 1 [MeSH Supplementary Concept]
- microphthalmia, syndromic 7 [MeSH Supplementary Concept]
- midline defects, X-Linked [MeSH Supplementary Concept]
- modifier, X-Linked, for neurofunctional defects [MeSH Supplementary Concept]
- multiple pterygium syndrome, X-Linked [MeSH Supplementary Concept]
- muscular dystrophy, progressive pectorodorsal [MeSH Supplementary Concept]
- myopathy, X-Linked, with excessive autophagy [MeSH Supplementary Concept]
- myopathy, reducing body, X-Linked, Childhood-Onset [MeSH Supplementary Concept]
- myopathy, reducing body, X-Linked, Early-Onset, severe [MeSH Supplementary Concept]
- myopia 1 [MeSH Supplementary Concept]
- myopia 13 [MeSH Supplementary Concept]
- nasodigitoacoustic syndrome [MeSH Supplementary Concept]
- nephrogenic syndrome of inappropriate antidiuresis [MeSH Supplementary Concept]
- nephrolithiasis, X-Linked recessive, with renal failure [MeSH Supplementary Concept]
- neural tube defects X-linked [MeSH Supplementary Concept]
- neuropathy, hereditary sensory, X-Linked [MeSH Supplementary Concept]
- neutropenia, severe congenital, X-Linked [MeSH Supplementary Concept]
- night blindness, congenital stationary [MeSH Supplementary Concept]
- norrie disease [MeSH Supplementary Concept]
- nystagmus 5, infantile periodic alternating [MeSH Supplementary Concept]
- ophthalmoplegia, external, and myopia [MeSH Supplementary Concept]
- opitz GBBB syndrome, X-Linked [MeSH Supplementary Concept]
- optic atrophy, X-linked [MeSH Supplementary Concept]
- ovarian dysgenesis 2 [MeSH Supplementary Concept]
- panhypopituitarism X-linked [MeSH Supplementary Concept]
- parathyroid glands, agenesis of [MeSH Supplementary Concept]
- parkinson disease 12 [MeSH Supplementary Concept]
- parkinsonism, early onset with mental retardation [MeSH Supplementary Concept]
- phosphoglycerate kinase 1 deficiency [MeSH Supplementary Concept]
- pigmentary disorder, reticulate, with systemic manifestations [MeSH Supplementary Concept]
- premature ovarian failure 2a [MeSH Supplementary Concept]
- progressive hearing loss stapes fixation [MeSH Supplementary Concept]
- properdin deficiency, X-linked [MeSH Supplementary Concept]
- properdin deficiency, type II [MeSH Supplementary Concept]
- properdin deficiency, type III [MeSH Supplementary Concept]
- prostate cancer, hereditary, X-Linked 2 [MeSH Supplementary Concept]
- protoporphyria, erythropoietic, X-Linked dominant [MeSH Supplementary Concept]
- proud syndrome [MeSH Supplementary Concept]
- ptosis, hereditary congenital 2 [MeSH Supplementary Concept]
- radial ray deficiency, X-Linked [MeSH Supplementary Concept]
- radiation sensitivity of natural killer activity [MeSH Supplementary Concept]
- radius absent anogenital anomalies [MeSH Supplementary Concept]
- reticuloendotheliosis, X-linked [MeSH Supplementary Concept]
- retinitis pigmentosa 3 [MeSH Supplementary Concept]
- retinitis pigmentosa 34 [MeSH Supplementary Concept]
- retinitis pigmentosa 6 [MeSH Supplementary Concept]
- retinitis pigmentosa, X-Linked, and sinorespiratory infections, with or without deafness [MeSH Supplementary Concept]
- rolandic epilepsy, mental retardation, and speech dyspraxia, X-Linked [MeSH Supplementary Concept]
- short stature, idiopathic, X-Linked [MeSH Supplementary Concept]
- spastic paraplegia 16, X-linked [MeSH Supplementary Concept]
- spastic paraplegia 2, X-linked [MeSH Supplementary Concept]
- spastic paraplegia 34, X-Linked [MeSH Supplementary Concept]
- spina bifida, X-Linked [MeSH Supplementary Concept]
- spinal muscular atrophy, distal, X-Linked 3 [MeSH Supplementary Concept]
- spinocerebellar ataxia, X-Linked 1 [MeSH Supplementary Concept]
- spinocerebellar ataxia, X-Linked 5 [MeSH Supplementary Concept]
- spinocerebellar ataxia, X-linked, 3 [MeSH Supplementary Concept]
- spondyloepimetaphyseal dysplasia, X-Linked [MeSH Supplementary Concept]
- spondylometaphyseal dysplasia, X-Linked [MeSH Supplementary Concept]
- surfactant metabolism dysfunction, pulmonary, 4 [MeSH Supplementary Concept]
- terminal osseous dysplasia and pigmentary defects [MeSH Supplementary Concept]
- testicular germ cell tumor 1 [MeSH Supplementary Concept]
- thrombocytopenia 1 [MeSH Supplementary Concept]
- thrombocytopenia, X-Linked, intermittent [MeSH Supplementary Concept]
- thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [MeSH Supplementary Concept]
- thrombocytosis, familial X-Linked [MeSH Supplementary Concept]
- thrombophilia, X-Linked, due to factor ix defect [MeSH Supplementary Concept]
- tooth agenesis, selective, X-Linked, 1 [MeSH Supplementary Concept]
- torticollis keloids cryptorchidism renal dysplasia [MeSH Supplementary Concept]
- vasquez hurst sotos syndrome [MeSH Supplementary Concept]
- vesicoureteral reflux, X-Linked [MeSH Supplementary Concept]
- von willebrand disease, X-Linked form [MeSH Supplementary Concept]
- wells jankovic syndrome [MeSH Supplementary Concept]
- wieacker syndrome [MeSH Supplementary Concept]
See also
- chromosomes, human, X [MeSH Descriptor]
- genes, x-linked [MeSH Descriptor]
- sex chromosome aberrations [MeSH Descriptor]
- sex chromosome disorders [MeSH Descriptor]
See also (suggested by CISMeF)
- X chromosome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked hereditary disease (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients