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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
monogenic disease +     
Alport syndrome +   
amyotrophic lateral sclerosis +   
autosomal genetic disease +   
Bartter disease +   
basal laminar drusen  
Brugada syndrome +   
Camurati-Engelmann disease +   
cardiofaciocutaneous syndrome +   
cataract +   
catecholaminergic polymorphic ventricular tachycardia +   
Cayman type cerebellar ataxia  
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 +   
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 +   
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  
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 +   
 Abruzzo Erickson Syndrome  
 Achromatopsia Incomplete, X-Linked 
 Agammaglobulinemia, X-Linked, Type 2  
 Aicardi syndrome 
 Alpha-Thalassemia Myelodysplasia Syndrome  
 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
 Alzheimer's disease 16 
 androgen insensitivity syndrome +   
 Anencephaly and Spina Bifida X-Linked 
 angioma serpiginosum +  
 Anhidrotic Ectodermal Dysplasia 1 +   
 Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
 Arthrogryposis, X-Linked, Type V 
 Atypical Mycobacteriosis, Familial, X-Linked 1  
 Atypical Mycobacteriosis, Familial, X-Linked 2  
 Bornholm Eye Disease 
 Branchial Arch Syndrome X-Linked 
 Bresheck/Bresek Syndrome 
 Bullous Dystrophy, Hereditary Macular Type 
 Cardiac Valvular Dysplasia, X-Linked  
 cataract 40  
 CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
 CHILD Syndrome  
 Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
 Choroideremia +   
 chromosome Xp11.23-p11.22 duplication syndrome 
 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 Heart Defects, X-Linked +   
 congenital hypogammaglobulinemia 
 Congenital Idiopathic Intestinal Pseudoobstruction  
 Congenital Ptosis, Hereditary 2 
 Corpus Callosum, Partial Agenesis of, X-Linked  
 Craniofacioskeletal Syndrome 
 Deafness, High-Frequency Sensorineural, X-Linked  
 Deafness, X-Linked 1  
 Deafness, X-Linked 3 
 Deafness, X-Linked 4  
 Deafness, X-Linked 5  
 deafness-intellectual disability, Martin-Probst type syndrome  
 Dilated Cardiomyopathy 3A  
 Distal Arthrogryposis Multiplex Congenita, X-Linked  
 early infantile epileptic encephalopathy 8  
 early infantile epileptic encephalopathy 9  
 Early Onset Parkinsonism with Mental Retardation  
 Epidermodysplasia Verruciformis, X-Linked 
 Episodic Muscle Weakness, X-Linked 
 Erythropoietic Protoporphyria, X-Linked Dominant  
 External Ophthalmoplegia and Myopia 
 Fabry disease +   
 favism  
 Fetal Akinesia Syndrome, X-Linked 
 Fg Syndrome 5 
 glycogen storage disease VIII 
 Hodgkin Disease, X-Linked Pseudoautosomal 
 Hydrocephalus with Cerebellar Agenesis 
 Hypertrichosis Congenital Generalized X-Linked 
 Hypogammaglobulinemia, X-Linked  
 Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency  
 Hypospadias 1, X-Linked  
 Hypospadias 2, X-Linked  
 Idiopathic Short Stature, X-Linked  
 Intracranial Berry Aneurysm 5 
 Isolated Microphthalmia with Coloboma 1 
 Isolated Noncompaction of the Ventricular Myocardium +   
 Keipert Syndrome  
 Keratosis Follicularis Spinulosa Decalvans, X-Linked  
 Leigh Syndrome, X-Linked  
 Linear Skin Defects with Multiple Congenital Anomalies 3  
 Liver Glycogenosis, X-Linked, Type II 
 Macular Dystrophy, X-Linked +   
 major affective disorder 2 
 Membranoproliferative Glomerulonephritis, X-Linked 
 MEND Syndrome  
 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
 Mental Retardation, X-Linked +   
 Microcephaly Microcornea Syndrome Seemanova Type 
 Microphthalmia, Syndromic 7  
 Midline Defects, X-Linked 
 Multiple Pterygium Syndrome, X-Linked 
 Myopathy, Reducing Body, X-Linked, Childhood-Onset  
 Myopathy, Reducing Body, X-Linked, Early-Onset, Severe  
 Myopia 1 
 Myopia 13 
 MYOPIA 26, X-LINKED, FEMALE-LIMITED  
 NEMO Mutation with Immunodeficiency 
 Nephrogenic Syndrome of Inappropriate Antidiuresis  
 Neural Tube Defects X-Linked 
 Nystagmus 1, Congenital, X- Linked  
 Nystagmus 5, Infantile Periodic Alternating 
 Opitz GBBB Syndrome, Type I  
 optic atrophy 2 
 ornithine carbamoyltransferase deficiency  
 ovarian dysgenesis 2  
 Parkinson's Disease 12 
 Periventricular Nodular Heterotopia 4  
 Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
 Phosphoglycerate Kinase 1 Deficiency  
 Premature Ovarian Failure 2a  
 Progressive Hearing Loss Stapes Fixation  
 Progressive Muscular Dystrophy, Pectorodorsal 
 Properdin Deficiency, X-Linked  
 Prostate Cancer, Hereditary, X-Linked 1 
 Prostate Cancer, Hereditary, X-Linked 2 
 Proud Syndrome  
 Radial Ray Deficiency, X-Linked 
 Radiation Sensitivity of Natural Killer Activity 
 Radius Absent Anogenital Anomalies 
 Reticulate Pigmentary Disorder, with Systemic Manifestations  
 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  
 Severe Congenital Neutropenia, X-Linked  
 Sketetal Dysplasia Coarse Facies Mental Retardation  
 Spina Bifida, X-Linked 
 Spinocerebellar Ataxia, X-Linked 1  
 Spinocerebellar Ataxia, X-Linked 5 
 Spinocerebellar Ataxia, X-Linked, 3 
 split hand-foot malformation 2 
 Spondyloepimetaphyseal Dysplasia, X-Linked  
 Spondylometaphyseal Dysplasia, X-Linked 
 Surfactant Metabolism Dysfunction, Pulmonary, 4  
 Terminal Osseous Dysplasia and Pigmentary Defects  
 Testicular Germ Cell Tumor 1 
 Thrombocytopenia 1  
 Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis  
 Thrombocytosis, Familial X-Linked 
 Thyroxine-Binding Globulin Deficiency +   
 Torticollis Keloids Cryptorchidism Renal Dysplasia 
 VACTERL/VATER Association with Hydrocephalus  
 Vasquez Hurst Sotos Syndrome 
 Von Willebrand Disease, X-Linked Form 
 Wells Jankovic Syndrome 
 X Inactivation, Familial Skewed, 1  
 X Inactivation, Familial Skewed, 2 
 X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities  
 X-Linked Anemia without Thrombocytopenia 
 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 distal spinal muscular atrophy 3  
 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 hypoparathyroidism 
 X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
 X-Linked Modifier for Neurofunctional Defects 
 X-linked nonsyndromic deafness +   
 X-Linked Panhypopituitarism  
 X-linked recessive disease +   
 X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
 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: MESH:D040181, http://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant, http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns

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