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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
monogenic disease +     
Alport syndrome +   
anterior segment dysgenesis +   
autosomal genetic disease +   
Bartter disease +   
basal laminar drusen  
Brugada syndrome +   
Camurati-Engelmann disease +   
cardiofaciocutaneous syndrome +   
cataract +   
catecholaminergic polymorphic ventricular tachycardia +   
chondrodysplasia punctata +   
ciliopathy +   
cone-rod dystrophy +   
Cornelia de Lange syndrome +   
corticosteroid-binding globulin deficiency  
dilated cardiomyopathy 1BB  
dilated cardiomyopathy 1EE  
dilated cardiomyopathy 1FF  
dilated cardiomyopathy 1G  
dilated cardiomyopathy 1GG  
dilated cardiomyopathy 1H  
dilated cardiomyopathy 1I  
dilated cardiomyopathy 1J  
dilated cardiomyopathy 1K 
dilated cardiomyopathy 1L  
dilated cardiomyopathy 1M  
dilated cardiomyopathy 1O  
dilated cardiomyopathy 1P  
dilated cardiomyopathy 1Q 
dilated cardiomyopathy 1T  
dilated cardiomyopathy 1W  
dilated cardiomyopathy 1Z  
erythrokeratodermia variabilis +   
familial hemophagocytic lymphohistiocytosis 5  
familial nephrotic syndrome +   
Fanconi anemia complementation group F  
Fanconi anemia complementation group G  
Fanconi anemia complementation group J  
Fanconi anemia complementation group N  
fetal akinesia deformation sequence syndrome +   
gene duplication disease +   
hereditary combined deficiency of vitamin K-dependent clotting factors +   
hypochondrogenesis  
infantile histiocytoid cardiomyopathy  
inflammatory bowel disease 1  
inflammatory bowel disease 10  
inflammatory bowel disease 11 
inflammatory bowel disease 12  
inflammatory bowel disease 13  
inflammatory bowel disease 14  
inflammatory bowel disease 15 
inflammatory bowel disease 16  
inflammatory bowel disease 17  
inflammatory bowel disease 18 
inflammatory bowel disease 19  
inflammatory bowel disease 2 
inflammatory bowel disease 20 
inflammatory bowel disease 22 
inflammatory bowel disease 23 
inflammatory bowel disease 24 
inflammatory bowel disease 26 
inflammatory bowel disease 27 
inflammatory bowel disease 4 
inflammatory bowel disease 5  
inflammatory bowel disease 6 
inflammatory bowel disease 7 
inflammatory bowel disease 8 
inflammatory bowel disease 9 
isolated microphthalmia 4  
lambda 5 deficiency 
Leber congenital amaurosis 10  
Leber congenital amaurosis 3  
Leber congenital amaurosis 7  
multiple epiphyseal dysplasia due to collagen 9 anomaly +   
multiple pterygium syndrome +   
Noonan syndrome +   
Opitz-GBBB syndrome +   
osteogenesis imperfecta type 14  
osteogenesis imperfecta type 6  
posterior polymorphous corneal dystrophy 3  
postural orthostatic tachycardia syndrome  
primary congenital glaucoma +   
Ritscher-Schinzel syndrome +   
schizophrenia 13 
schizophrenia 14 
schizophrenia 16  
schizophrenia 18  
schizophrenia 9  
SHOX-related short stature  
X-linked monogenic disease +   
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.
Y-linked monogenic disease +   
 46,XY sex reversal 2  
 Abruzzo-Erickson syndrome  
 Achromatopsia Incomplete, X-Linked 
 Aicardi syndrome 
 alpha-thalassemia myelodysplasia syndrome  
 Alzheimer's disease 16 
 AMME complex  
 androgen insensitivity syndrome +   
 Anencephaly and Spina Bifida X-Linked 
 angioma serpiginosum +  
 Arthrogryposis, X-Linked, Type V 
 Bornholm Eye Disease 
 Branchial Arch Syndrome X-Linked 
 Bresheck/Bresek Syndrome 
 Bullous Dystrophy, Hereditary Macular Type 
 cataract 40  
 CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
 Choroideremia +   
 Chromosome Xq28 Duplication Syndrome  
 Cleft Palate with Ankyloglossia  
 combined T cell and B cell immunodeficiency +   
 Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
 Congenital Adrenal Hypoplasia with Precocious Puberty 
 Congenital Alopecia X-Linked 
 congenital bilateral absence of vas deferens +   
 Congenital Heart Defects, X-Linked +   
 congenital hypogammaglobulinemia 
 congenital nystagmus 1  
 Congenital Ptosis, Hereditary 2 
 corpus callosum agenesis-abnormal genitalia syndrome  
 Craniofacioskeletal Syndrome 
 Dilated Cardiomyopathy 3A  
 Epidermodysplasia Verruciformis, X-Linked 
 Episodic Muscle Weakness, X-Linked 
 External Ophthalmoplegia and Myopia 
 Fabry disease +   
 favism  
 Fetal Akinesia Syndrome, X-Linked 
 High-Frequency Deafness, Sensorineural, X-Linked 
 Hodgkin Disease, X-Linked Pseudoautosomal 
 Hydrocephalus with Cerebellar Agenesis 
 Hypertrichosis Congenital Generalized X-Linked 
 Hypospadias 1, X-Linked  
 Hypospadias 2, X-Linked  
 intracranial berry aneurysm 5 
 Isolated Microphthalmia with Coloboma 1 
 Isolated Noncompaction of the Ventricular Myocardium +   
 Leigh Syndrome, X-Linked  
 McLeod syndrome  
 Meester-Loeys syndrome  
 Melnick-Needles syndrome  
 Membranoproliferative Glomerulonephritis, X-Linked 
 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
 Mental Retardation, X-Linked +   
 Microcephaly Microcornea Syndrome Seemanova Type 
 Midline Defects, X-Linked 
 Multiple Pterygium Syndrome, X-Linked 
 Myopia 1 
 Myopia 13 
 Myopia 26, X-Linked, Female-Limited  
 NEMO Mutation with Immunodeficiency 
 Neural Tube Defects X-Linked 
 Nystagmus 5, Infantile Periodic Alternating 
 Ogden syndrome  
 optic atrophy 2 
 ornithine carbamoyltransferase deficiency  
 ovarian dysgenesis 2 +   
 Parkinson's Disease 12 
 Partial Agenesis of Corpus Callosum, X-Linked  
 Periventricular Nodular Heterotopia 4  
 Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
 primary ovarian insufficiency 1  
 primary ovarian insufficiency 4 
 Progressive Muscular Dystrophy, Pectorodorsal 
 Prostate Cancer, Hereditary, X-Linked 1 
 Prostate Cancer, Hereditary, X-Linked 2 
 Radial Ray Deficiency, X-Linked 
 Radiation Sensitivity of Natural Killer Activity 
 Radius Absent Anogenital Anomalies 
 reducing body myopathy 1B  
 Reticuloendotheliosis, X-Linked 
 retinitis pigmentosa 2  
 retinitis pigmentosa 24 
 retinitis pigmentosa 3  
 retinitis pigmentosa 34 
 retinitis pigmentosa 6  
 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
 Russell-Silver Syndrome, X-Linked 
 Selective Tooth Agenesis, X-Linked, 1  
 Sketetal Dysplasia Coarse Facies Mental Retardation  
 Spina Bifida, X-Linked 
 split hand-foot malformation 2 
 Spondylometaphyseal Dysplasia, X-Linked 
 Surfactant Metabolism Dysfunction, Pulmonary, 4  
 syndromic microphthalmia 13  
 TARP syndrome  
 terminal osseous dysplasia  
 Testicular Germ Cell Tumor 1 
 Thrombocythemia, X-Linked 
 Thrombocytopenia 1  
 Thyroxine-Binding Globulin Deficiency +   
 Torticollis Keloids Cryptorchidism Renal Dysplasia 
 Vasquez Hurst Sotos Syndrome 
 VEXAS syndrome  
 Von Willebrand Disease, X-Linked Form 
 Wells Jankovic Syndrome 
 X Inactivation, Familial Skewed, 1  
 X Inactivation, Familial Skewed, 2 
 X-Linked Anemia without Thrombocytopenia 
 X-linked cardiac valvular dysplasia  
 X-linked cleft palate with or without ankyloglossia  
 X-linked cone-rod dystrophy 1  
 X-linked cone-rod dystrophy 2 
 X-linked congenital myopathy with fiber-type disproportion 
 X-linked dilated cardiomyopathy  
 X-linked dominant disease +   
 X-linked epilepsy with variable learning disabilities and behavior disorders  
 X-linked exudative vitreoretinopathy 2  
 X-linked hereditary ataxia +   
 X-Linked Hydrocephalus +   
 X-Linked Hypogammaglobulinemia  
 X-linked hypoparathyroidism 
 X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
 X-Linked Macular Dystrophy +   
 X-Linked Modifier for Neurofunctional Defects 
 X-linked nonsyndromic deafness +   
 X-linked panhypopituitarism  
 X-linked recessive disease +   
 X-linked reticulate pigmentary disorder  
 X-linked retinitis pigmentosa and sinorespiratory infections  
 X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   
 X-Linked Tetra-Amelia 
 X-Linked Thrombocytopenia, Intermittent  
 X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  
 X-linked thrombophilia due to factor IX defect  
 X-Linked Vesicoureteral Reflux 

Synonyms
Exact Synonyms: Genetic Diseases, X Chromosome Linked ;   X-linked disease ;   X-linked genetic disease ;   X-linked inheritance
Primary IDs: MESH:D040181
Alternate IDs: RDO:0000273
Definition Sources: http://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant "DO" "DO", http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns "DO" "DO", MESH:D040181

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