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Term:
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia (DOID:9003890)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Abruzzo Erickson Syndrome  
Achromatopsia Incomplete, X-Linked 
Acquired Pure Megakaryocytic Aplasia 
acquired thrombocytopenia +   
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 +   
Anemia, X-Linked, without Thrombocytopenia 
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
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  
autosomal dominant macrothrombocytopenia TUBB1-related  
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 amegakaryocytic thrombocytopenia  
Congenital Disorder of Glycosylation Type 1X  
Congenital Heart Defects, X-Linked +   
congenital hypogammaglobulinemia 
Congenital Idiopathic Intestinal Pseudoobstruction  
Congenital Myopathy, with Fiber-Type Disproportion, X-Linked 
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  
DK Phocomelia Syndrome 
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
Early Onset Parkinsonism with Mental Retardation  
Ectodermal Dysplasia 1, Anhidrotic +   
Ehlers-Danlos Syndrome Type 5 
Epidermodysplasia Verruciformis, X-Linked 
Episodic Muscle Weakness, X-Linked 
Erythropoietic Protoporphyria, X-Linked Dominant  
Evans' syndrome +   
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
External Ophthalmoplegia and Myopia 
Fabry disease +   
Familial Exudative Vitreoretinopathy, X-Linked Recessive  
favism  
Fetal Akinesia Syndrome, X-Linked 
Fg Syndrome 5 
Forsythe-Wakeling Syndrome 
Gardner Morrisson Abbot Syndrome 
Giant Platelet Syndrome with Thrombocytopenia  
glycogen storage disease VIII 
Hereditary Benign Erythroreticulosis 
Hodgkin Disease, X-Linked Pseudoautosomal 
Hydrocephalus with Cerebellar Agenesis 
Hypertrichosis Congenital Generalized X-Linked 
Hypogammaglobulinemia, X-Linked  
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency  
Hypoparathyroidism, X-Linked 
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 +   
Jacobsen Distal 11q Deletion Syndrome +  
Kasabach-Merritt Syndrome +   
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
Leigh Syndrome, X-Linked  
Leukoencephalopathy with Metaphyseal Chondrodysplasia 
Linear Skin Defects with Multiple Congenital Anomalies 3  
Liver Glycogenosis, X-Linked, Type II 
Macular Dystrophy, X-Linked +   
Majeed Syndrome  
major affective disorder 2 
megalocornea +   
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 
MYH-9 related disease +   
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  
Nasodigitoacoustic Syndrome  
NEMO Mutation with Immunodeficiency 
Neonatal Alloimmune Thrombocytopenia  
Nephrogenic Syndrome of Inappropriate Antidiuresis  
Neural Tube Defects X-Linked 
Nystagmus 1, Congenital, X- Linked  
Nystagmus 5, Infantile Periodic Alternating 
Oculootoradial Syndrome  
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  
platelet-type bleeding disorder 15  
platelet-type bleeding disorder 17  
platelet-type bleeding disorder 9  
Premature Ovarian Failure 2a  
Progressive Hearing Loss Stapes Fixation  
Progressive Muscular Dystrophy, Pectorodorsal 
Properdin Deficiency, Type II  
Properdin Deficiency, Type III  
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 
Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia +   
Radius Absent Anogenital Anomalies 
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Reticuloendotheliosis, X-Linked 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6 
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
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 
Spastic Paraplegia and Evans Syndrome 
Spina Bifida, X-Linked 
Spinal Muscular Atrophy, Distal, X-Linked 3  
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  
Takenouchi-Kosaki Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
Testicular Germ Cell Tumor 1 
Tetraphocomelia-Thrombocytopenia Syndrome 
Thrombocytopenia 1  
Thrombocytopenia 2  
Thrombocytopenia 3  
Thrombocytopenia 4  
THROMBOCYTOPENIA 5  
THROMBOCYTOPENIA 6  
Thrombocytopenia Absent Ulnar Syndrome 
thrombocytopenia due to platelet alloimmunization +   
Thrombocytopenia Robin Sequence 
Thrombocytopenia with Elevated Serum Iga and Renal Disease 
Thrombocytopenia, Anemia, and Myelofibrosis  
Thrombocytopenia, Cyclic 
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis  
thrombocytopenia-absent radius syndrome  
Thrombocytosis, Familial X-Linked 
Thrombotic Microangiopathies +   
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
transient neonatal thrombocytopenia 
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 cleft palate with or without ankyloglossia  
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked dilated cardiomyopathy  
X-linked dominant disease +   
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders  
X-linked hereditary ataxia +   
X-Linked Hydrocephalus +   
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 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: Dyserythropoietic Anemia with Thrombocytopenia ;   Gata1-Related Cytopenia ;   Gata1-Related X-Linked Cytopenia ;   X-Linked Macrothrombocytopenia ;   XLTDA ;   dyserythropoietic anemia and thrombocytopenia
Related Synonyms: GATA-1-RELATED THROMBOCYTOPENIA WITH DYSERYTHROPOIESIS
Primary IDs: MESH:C564525 ;   MESH:C564526
Alternate IDs: DOID:9001091 ;   OMIM:300367 ;   RDO:0008582 ;   RDO:0013462 ;   RDO:0013463

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.