genetické nemoci vázané na chromozom X [Genetic Diseases, X-Linked]
- Termíny
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genetické nemoci vázané na chromozóm X
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Genetic Diseases, X-Chromosome Linked
X-Linked Genetic Diseases
Dědičné nemoci vázané na mutace genů na chromozomu X (u lidí či jiných druhů nesoucích chromozom X). Patří sem také zvířecí modely nemocí vázaných na chromozom X u lidí.
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.
- DUI
- D040181 MeSH Prohlížeč
- CUI
- M0420489
- Předchozí užití
- Genetic Diseases, Inborn (1966-2002); Linkage (Genetics) (1984-2002); specific disease/Genetics (1984-2002)
- Historická pozn.
- 2003
- Veřejná pozn.
- 2003
Povolená podhesla
- CI
- chemicky indukované
- SU
- chirurgie
- HI
- dějiny
- DG
- diagnostické zobrazování 1
- DI
- diagnóza 21
- DH
- dietoterapie
- EC
- ekonomika
- EM
- embryologie
- EN
- enzymologie 1
- EP
- epidemiologie
- ET
- etiologie 2
- EH
- etnologie
- DT
- farmakoterapie 7
- GE
- genetika 26
- IM
- imunologie 2
- CL
- klasifikace 4
- CO
- komplikace 2
- BL
- krev 2
- ME
- metabolismus
- MI
- mikrobiologie
- UR
- moč
- MO
- mortalita
- CF
- mozkomíšní mok
- NU
- ošetřování
- PS
- parazitologie
- PP
- patofyziologie 2
- PA
- patologie 4
- PC
- prevence a kontrola 3
- PX
- psychologie 2
- RT
- radioterapie
- RH
- rehabilitace
- TH
- terapie 4
- VE
- veterinární
- VI
- virologie
Aarskog Syndrome Disease MeSH Prohlížeč
Abruzzo Erickson syndrome Disease MeSH Prohlížeč
Achromatopsia incomplete, X-linked Disease MeSH Prohlížeč
Adrenal Hypoplasia, Congenital, with Precocious Puberty Disease MeSH Prohlížeč
Agammaglobulinemia, X-linked, type 2 Disease MeSH Prohlížeč
Aland Island Eye Disease Disease MeSH Prohlížeč
Alpha-Thalassemia Myelodysplasia Syndrome Disease MeSH Prohlížeč
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis Disease MeSH Prohlížeč
Alzheimer Disease 16 Disease MeSH Prohlížeč
Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency Disease MeSH Prohlížeč
Anemia, X-Linked, without Thrombocytopenia Disease MeSH Prohlížeč
Anemia, sideroblastic spinocerebellar ataxia Disease MeSH Prohlížeč
Anencephaly and spina bifida X-linked Disease MeSH Prohlížeč
Aneurysm, Intracranial Berry, 5 Disease MeSH Prohlížeč
Angioma serpiginosum, X-linked Disease MeSH Prohlížeč
Arthrogryposis multiplex congenita, distal, X-linked Disease MeSH Prohlížeč
Arthrogryposis, X-Linked, Type V Disease MeSH Prohlížeč
Arts syndrome Disease MeSH Prohlížeč
Atypical Mycobacteriosis, Familial, X-Linked 2 Disease MeSH Prohlížeč
Bornholm Eye Disease Disease MeSH Prohlížeč
Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia Disease MeSH Prohlížeč
Branchial arch syndrome X-linked Disease MeSH Prohlížeč
Brunner Syndrome Disease MeSH Prohlížeč
Bruton type agammaglobulinemia Disease MeSH Prohlížeč
Bullous Dystrophy, Hereditary Macular Type Disease MeSH Prohlížeč
Cardiac valvular dysplasia, X-linked Disease MeSH Prohlížeč
Cardiomyopathy, Dilated, 3A Disease MeSH Prohlížeč
Cataract, congenital, with microcornea or slight microphthalmia Disease MeSH Prohlížeč
Chromosome Xp11.23-P11.22 Duplication Syndrome Disease MeSH Prohlížeč
Chromosome Xq28 Duplication Syndrome Disease MeSH Prohlížeč
Cleft Palate with Ankyloglossia Disease MeSH Prohlížeč
Cleft palate X-linked Disease MeSH Prohlížeč
Cone Dystrophy, X-Linked, 1 Disease MeSH Prohlížeč
Cone dystrophy, x-linked, with tapetal-like sheen Disease MeSH Prohlížeč
Cone-Rod Dystrophy, X-Linked, 2 Disease MeSH Prohlížeč
Cone-Rod Dystrophy, X-Linked, 3 Disease MeSH Prohlížeč
Cone-Rod Dystrophy, X-Linked, Type 1 Disease MeSH Prohlížeč
Congenital Heart Defects, X-Linked Disease MeSH Prohlížeč
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Disease MeSH Prohlížeč
Congenital alopecia X-linked Disease MeSH Prohlížeč
Congenital idiopathic intestinal pseudoobstruction Disease MeSH Prohlížeč
Corpus Callosum, Partial Agenesis of, X-Linked Disease MeSH Prohlížeč
Craniofacioskeletal Syndrome Disease MeSH Prohlížeč
Deafness, High-Frequency Sensorineural, X-Linked Disease MeSH Prohlížeč
Deafness, X-Linked 1 Disease MeSH Prohlížeč
Deafness, X-Linked 3 Disease MeSH Prohlížeč
Deafness, X-Linked 4 Disease MeSH Prohlížeč
Deafness, X-Linked 5 Disease MeSH Prohlížeč
Dent Disease 2 Disease MeSH Prohlížeč
Dent disease 1 Disease MeSH Prohlížeč
Dyserythropoietic Anemia with Thrombocytopenia Disease MeSH Prohlížeč
Dystonia 3, Torsion, X-Linked Disease MeSH Prohlížeč
Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema Disease MeSH Prohlížeč
Ectodermal dysplasia, hypohidrotic, with immune deficiency Disease MeSH Prohlížeč
Ehlers-Danlos syndrome type 5 Disease MeSH Prohlížeč
Epidermodysplasia Verruciformis, X-Linked Disease MeSH Prohlížeč
Epilepsy, Female-Restricted, with Mental Retardation Disease MeSH Prohlížeč
Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders Disease MeSH Prohlížeč
Episodic Muscle Weakness, X-Linked Disease MeSH Prohlížeč
Exudative Vitreoretinopathy, Familial, X-Linked Recessive Disease MeSH Prohlížeč
Fetal akinesia syndrome, X-linked Disease MeSH Prohlížeč
Fg Syndrome 5 Disease MeSH Prohlížeč
Glycogen Storage Disease, Type IXA2 Disease MeSH Prohlížeč
Glycogen Storage Disease, Type IXD Disease MeSH Prohlížeč
Heterotaxy, visceral, X-linked Disease MeSH Prohlížeč
Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia Disease MeSH Prohlížeč
Heterotopia, Periventricular, Ehlers-Danlos Variant Disease MeSH Prohlížeč
Hodgkin disease, X-linked pseudoautosomal Disease MeSH Prohlížeč
Hydrocephalus With Cerebellar Agenesis Disease MeSH Prohlížeč
Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction Disease MeSH Prohlížeč
Hydrocephalus, X-linked Disease MeSH Prohlížeč
Hyperekplexia and Epilepsy Disease MeSH Prohlížeč
Hypertrichosis congenital generalized X-linked Disease MeSH Prohlížeč
Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked Disease MeSH Prohlížeč
Hypogammaglobulinemia, X-Linked Disease MeSH Prohlížeč
Hypoparathyroidism, X-Linked Disease MeSH Prohlížeč
Hypospadias 1, X-Linked Disease MeSH Prohlížeč
Hypospadias 2, X-Linked Disease MeSH Prohlížeč
Ichthyosis, X-Linked, Complicated Disease MeSH Prohlížeč
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Disease MeSH Prohlížeč
Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein Disease MeSH Prohlížeč
Joubert Syndrome 10 Disease MeSH Prohlížeč
Keratosis Follicularis Spinulosa Decalvans, X-Linked Disease MeSH Prohlížeč
Leigh Syndrome, X-Linked Disease MeSH Prohlížeč
Liver Glycogenosis, X-Linked, Type II Disease MeSH Prohlížeč
Lymphoproliferative Syndrome, X-Linked, 2 Disease MeSH Prohlížeč
MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome Disease MeSH Prohlížeč
Macrothrombocytopenia, X-Linked Disease MeSH Prohlížeč
Macular Dystrophy, X-Linked Disease MeSH Prohlížeč
Major Affective Disorder 2 Disease MeSH Prohlížeč
Martin-Probst Deafness-Mental Retardation Syndrome Disease MeSH Prohlížeč
Megalocornea Disease MeSH Prohlížeč
Membranoproliferative Glomerulonephritis, X-Linked Disease MeSH Prohlížeč
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Disease MeSH Prohlížeč
Mental Retardation, X-Linked, Syndromic 12 Disease MeSH Prohlížeč
Mental Retardation, X-Linked, Syndromic, Christianson Type Disease MeSH Prohlížeč
Mental Retardation, X-Linked, Syndromic, Turner Type Disease MeSH Prohlížeč
Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related Disease MeSH Prohlížeč
Mental Retardation, X-Linked, With Panhypopituitarism Disease MeSH Prohlížeč
Mental Retardation, X-Linked, Znf711-Related Disease MeSH Prohlížeč
Microphthalmia, Isolated, with Coloboma 1 Disease MeSH Prohlížeč
Microphthalmia, syndromic 7 Disease MeSH Prohlížeč
Midline Defects, X-Linked Disease MeSH Prohlížeč
Modifier, X-Linked, for Neurofunctional Defects Disease MeSH Prohlížeč
Multiple Pterygium Syndrome, X-Linked Disease MeSH Prohlížeč
Muscular Dystrophy, Progressive Pectorodorsal Disease MeSH Prohlížeč
Myopathy, Reducing Body, X-Linked, Childhood-Onset Disease MeSH Prohlížeč
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe Disease MeSH Prohlížeč
Myopathy, X-Linked, with Excessive Autophagy Disease MeSH Prohlížeč
Myopia 1 Disease MeSH Prohlížeč
Myopia 13 Disease MeSH Prohlížeč
NEMO mutation with immunodeficiency Disease MeSH Prohlížeč
Nance-Horan syndrome Disease MeSH Prohlížeč
Nasodigitoacoustic syndrome Disease MeSH Prohlížeč
Nephrogenic Syndrome of Inappropriate Antidiuresis Disease MeSH Prohlížeč
Nephrolithiasis, X-Linked Recessive, with Renal Failure Disease MeSH Prohlížeč
Neural tube defects X-linked Disease MeSH Prohlížeč
Neuropathy, Hereditary Sensory, X-Linked Disease MeSH Prohlížeč
Neutropenia, Severe Congenital, X-Linked Disease MeSH Prohlížeč
Night blindness, congenital stationary Disease MeSH Prohlížeč
Norrie disease Disease MeSH Prohlížeč
Nystagmus 5, Infantile Periodic Alternating Disease MeSH Prohlížeč
Ophthalmoplegia, External, and Myopia Disease MeSH Prohlížeč
Opitz GBBB Syndrome, X-Linked Disease MeSH Prohlížeč
Optic atrophy, X-linked Disease MeSH Prohlížeč
Ovarian Dysgenesis 2 Disease MeSH Prohlížeč
Panhypopituitarism X-linked Disease MeSH Prohlížeč
Parathyroid Glands, Agenesis Of Disease MeSH Prohlížeč
Parkinson Disease 12 Disease MeSH Prohlížeč
Parkinsonism, early onset with mental retardation Disease MeSH Prohlížeč
Phosphoglycerate Kinase 1 Deficiency Disease MeSH Prohlížeč
Pigmentary Disorder, Reticulate, with Systemic Manifestations Disease MeSH Prohlížeč
Premature Ovarian Failure 2a Disease MeSH Prohlížeč
Progressive hearing loss stapes fixation Disease MeSH Prohlížeč
Properdin Deficiency, Type II Disease MeSH Prohlížeč
Properdin Deficiency, Type III Disease MeSH Prohlížeč
Properdin deficiency, X-linked Disease MeSH Prohlížeč
Prostate Cancer, Hereditary, X-Linked 2 Disease MeSH Prohlížeč
Protoporphyria, Erythropoietic, X-Linked Dominant Disease MeSH Prohlížeč
Proud Syndrome Disease MeSH Prohlížeč
Ptosis, Hereditary Congenital 2 Disease MeSH Prohlížeč
Radial Ray Deficiency, X-Linked Disease MeSH Prohlížeč
Radiation Sensitivity of Natural Killer Activity Disease MeSH Prohlížeč
Radius absent anogenital anomalies Disease MeSH Prohlížeč
Reticuloendotheliosis, X-linked Disease MeSH Prohlížeč
Retinitis Pigmentosa 3 Disease MeSH Prohlížeč
Retinitis Pigmentosa 34 Disease MeSH Prohlížeč
Retinitis Pigmentosa 6 Disease MeSH Prohlížeč
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness Disease MeSH Prohlížeč
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked Disease MeSH Prohlížeč
Russell-Silver Syndrome, X-Linked Disease MeSH Prohlížeč
Short Stature, Idiopathic, X-Linked Disease MeSH Prohlížeč
Simpson-Golabi-Behmel Syndrome, Type 2 Disease MeSH Prohlížeč
Simpson-Golabi-Behmel syndrome Disease MeSH Prohlížeč
Skeletal dysplasia coarse facies mental retardation Disease MeSH Prohlížeč
Spastic Paraplegia 34, X-Linked Disease MeSH Prohlížeč
Spastic paraplegia 16, X-linked Disease MeSH Prohlížeč
Spastic paraplegia 2, X-linked Disease MeSH Prohlížeč
Spina Bifida, X-Linked Disease MeSH Prohlížeč
Spinal Muscular Atrophy, Distal, X-Linked 3 Disease MeSH Prohlížeč
Spinocerebellar Ataxia, X-Linked 1 Disease MeSH Prohlížeč
Spinocerebellar Ataxia, X-Linked 5 Disease MeSH Prohlížeč
Spinocerebellar ataxia, X-linked, 3 Disease MeSH Prohlížeč
Split-Hand Foot Malformation 2 Disease MeSH Prohlížeč
Spondyloepimetaphyseal Dysplasia, X-Linked Disease MeSH Prohlížeč
Spondylometaphyseal Dysplasia, X-Linked Disease MeSH Prohlížeč
Surfactant Metabolism Dysfunction, Pulmonary, 4 Disease MeSH Prohlížeč
Terminal Osseous Dysplasia and Pigmentary Defects Disease MeSH Prohlížeč
Testicular Germ Cell Tumor 1 Disease MeSH Prohlížeč
Thrombocytopenia 1 Disease MeSH Prohlížeč
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis Disease MeSH Prohlížeč
Thrombocytopenia, X-Linked, Intermittent Disease MeSH Prohlížeč
Thrombocytosis, Familial X-Linked Disease MeSH Prohlížeč
Thrombophilia, X-Linked, Due To Factor Ix Defect Disease MeSH Prohlížeč
Thyroxine-Binding Globulin Deficiency Disease MeSH Prohlížeč
Tooth Agenesis, Selective, X-Linked, 1 Disease MeSH Prohlížeč
Torticollis keloids cryptorchidism renal dysplasia Disease MeSH Prohlížeč
VACTERL Association With Hydrocephalus Disease MeSH Prohlížeč
Vasquez Hurst Sotos syndrome Disease MeSH Prohlížeč
Vesicoureteral Reflux, X-Linked Disease MeSH Prohlížeč
Von Willebrand Disease, X-Linked Form Disease MeSH Prohlížeč
Wells Jankovic syndrome Disease MeSH Prohlížeč
Wieacker syndrome Disease MeSH Prohlížeč
X Inactivation, Familial Skewed, 1 Disease MeSH Prohlížeč
X Inactivation, Familial Skewed, 2 Disease MeSH Prohlížeč
X-Linked Chondrodysplasia Punctata 1 Disease MeSH Prohlížeč
X-Linked Infantile Nystagmus Disease MeSH Prohlížeč
X-linked sideroblastic anemia Disease MeSH Prohlížeč
X-linked tetra-amelia Disease MeSH Prohlížeč
Užší termíny
- Aicardiho syndrom
- Barthův syndrom
- bulbospinální atrofie vázaná na chromozom X
- choroideremie
- chronická granulomatózní nemoc
- Dentova choroba
- Duchennova muskulární dystrofie
- dyskeratosis congenita
- ektodermální dysplazie 1 anhidrotická
- Fabryho nemoc
- fokální dermální hypoplazie
- glykogenóza typu IIb
- glykogenóza typu VIII
- hemofilie B
- ichtyóza vázaná na chromozom X
- imunodeficience s hyper-IgM, typ 1
- izolovaná nekompaktnost myokardu komor
- kombinované imunodeficience vázané na chromozom X
- mentální retardace vázaná na chromozom X
- nemoc z nedostatku ornithinkarbamoyltransferázy
- okulocerebrorenální syndrom
- Pelizaeusova-Merzbacherova nemoc
- svalová dystrofie Emeryho-Dreifussova
- syndrom rezistence na androgeny
- Wiskottův-Aldrichův syndrom