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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
anemia +     
blood platelet disease +     
neutropenia +     
X-linked recessive disease +     
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +   
adrenoleukodystrophy +   
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2  
Autosomal Dominant Tubulointerstitial Kidney Disease 4  
Barth syndrome +   
Bernard-Soulier syndrome +   
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Brunner syndrome  
CD40 ligand deficiency +   
Charcot-Marie-Tooth disease X-linked recessive 2 
Charcot-Marie-Tooth disease X-linked recessive 3 
Charcot-Marie-Tooth disease X-linked recessive 4  
Charcot-Marie-Tooth disease X-linked recessive 5  
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia 
CK syndrome  
combined oxidative phosphorylation deficiency 6  
congenital disorder of glycosylation Icc  
congenital disorder of glycosylation Iy  
Congenital Dyserythropoiesis with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin 
congenital nongoitrous hypothyroidism 9  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
cyclic hematopoiesis  
Dent disease +   
developmental and epileptic encephalopathy 1  
developmental and epileptic encephalopathy 8  
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis  
Drug-induced Anemia  
Drug-induced Neutropenia +   
Duchenne muscular dystrophy +   
ectodermal dysplasia 1 +   
Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality 
factor VIII deficiency +   
Familial Platelet Disorder with Associated Myeloid Malignancy  
Fanconi anemia complementation group B  
Febrile Neutropenia +   
FG syndrome +   
folic acid deficiency anemia +   
frontometaphyseal dysplasia 1  
Galloway-Mowat syndrome 2  
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets  
Glanzmann's thrombasthenia +   
glycogen storage disease IXA  
glycogen storage disease IXD  
glycogen storage disease VIII  
gray platelet syndrome +   
hemophilia B  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
HRPT-related hyperuricemia  
hypochromic anemia +   
hypogonadotropic hypogonadism 1 with or without anosmia  
ichthyosis follicularis-alopecia-photophobia syndrome 1  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
immunodeficiency 33  
immunodeficiency 34  
immunodeficiency 47  
immunodeficiency 50  
immunodeficiency 71  
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Keipert syndrome  
Kennedy's disease  
Lazy Leukocyte Syndrome  
Lesch-Nyhan syndrome +   
Lethal Congenital Neutropenia with Eosinophilia 
Lichtenstein Syndrome 
macrocytic anemia +   
Malarial Anemia  
MASA syndrome  
megalocornea +   
MEHMO syndrome  
MEND syndrome  
methylmalonic acidemia and homocysteinemia cblX type  
microcytic anemia +   
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Mosaic Variegated Aneuploidy Syndrome 5  
Mullegama-Klein-Martinez syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
MYH-9 related disease +   
neonatal anemia +   
nephrogenic syndrome of inappropriate antidiuresis  
non-syndromic X-linked intellectual disability 100  
non-syndromic X-linked intellectual disability 101  
non-syndromic X-linked intellectual disability 103  
non-syndromic X-linked intellectual disability 104  
non-syndromic X-linked intellectual disability 105  
non-syndromic X-linked intellectual disability 21  
non-syndromic X-linked intellectual disability 30  
non-syndromic X-linked intellectual disability 46  
non-syndromic X-linked intellectual disability 53 
non-syndromic X-linked intellectual disability 58  
non-syndromic X-linked intellectual disability 72  
non-syndromic X-linked intellectual disability 73 
non-syndromic X-linked intellectual disability 77 
non-syndromic X-linked intellectual disability 81 
non-syndromic X-linked intellectual disability 82 
non-syndromic X-linked intellectual disability 84 
non-syndromic X-linked intellectual disability 9  
non-syndromic X-linked intellectual disability 90  
non-syndromic X-linked intellectual disability 92 
non-syndromic X-linked intellectual disability 93  
non-syndromic X-linked intellectual disability 96  
non-syndromic X-linked intellectual disability 99  
non-syndromic X-linked intellectual disability ARX-related  
Nonimmune Chronic Idiopathic Neutropenia, Adult  
normocytic anemia +   
Norrie disease  
nuclear type mitochondrial complex I deficiency 12  
nuclear type mitochondrial complex I deficiency 30  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Onychotrichodysplasia and Neutropenia 
Opitz GBBB syndrome  
orofaciodigital syndrome VIII 
osteogenesis imperfecta type 19  
Paganini-Miozzo syndrome  
pancytopenia +   
partial androgen insensitivity syndrome  
Partington syndrome  
Pelizaeus-Merzbacher disease +   
phosphoglycerate kinase 1 deficiency  
phosphoribosylpyrophosphate synthetase superactivity  
Platelet Aggregation, Spontaneous 
Platelet Factor 3 Deficiency 
Platelet Prostacyclin Receptor Defect 
Platelet Receptor for Collagen, Deficiency of 
Platelet Signal Processing Defect 
platelet storage pool deficiency +   
platelet-type bleeding disorder 10  
platelet-type bleeding disorder 11  
platelet-type bleeding disorder 12 
Platelet-Type Bleeding Disorder 13  
platelet-type bleeding disorder 14  
platelet-type bleeding disorder 15  
platelet-type bleeding disorder 18  
platelet-type bleeding disorder 19  
platelet-type bleeding disorder 20  
Platelet-Type Bleeding Disorder 21  
Platelet-Type Bleeding Disorder 22  
Platelet-Type Bleeding Disorder 24  
Platelet-Type Bleeding Disorder 25  
platelet-type bleeding disorder 8  
platelet-type bleeding disorder 9  
poikiloderma with neutropenia  
Prieto syndrome  
primary ovarian insufficiency 2B  
Primary Release Disorder Of Platelets 
protein-deficiency anemia 
pyridoxine deficiency anemia  
qualitative platelet defect 
Quebec platelet disorder  
Refractory Anemia +   
Renpenning syndrome  
retinitis pigmentosa 23  
Ritscher-Schinzel syndrome 2  
Severe Chronic Neutropenia  
severe congenital encephalopathy due to MECP2 mutation  
severe congenital neutropenia +   
Shukla-Vernon syndrome  
sideroblastic anemia 1  
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
spastic paraplegia with deafness 
Stormorken syndrome  
syndactyly type 8  
syndromic X-linked intellectual disability 17 
syndromic X-linked intellectual disability 35  
syndromic X-linked intellectual disability 5  
syndromic X-linked intellectual disability Claes-Jensen type  
syndromic X-linked intellectual disability Siderius type  
syndromic X-linked intellectual disability Snyder type  
syndromic X-linked intellectual disability Turner type  
syndromic X-linked intellectual disorder Lujan-Fryns-type  
thrombocytopenia +   
Thrombocytopenia, Anemia, and Myelofibrosis  
thrombocytosis +   
transient neonatal neutropenia +  
Undefined Platelet Disorder 
Van Esch-O'Driscoll syndrome  
von Willebrand's disease +   
Waisman syndrome  
WHIM Syndrome +   
White Platelet Syndrome 
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
X-linked Aarskog syndrome  
X-linked adrenal hypoplasia congenita  
X-linked agammaglobulinemia +   
X-Linked Anemia without Thrombocytopenia 
X-linked atrophic macular degeneration  
X-linked chondrodysplasia punctata 1  
X-linked chronic granulomatous disease  
X-linked chronic idiopathic intestinal pseudo-obstruction  
X-linked cone-rod dystrophy 3  
X-linked congenital hemolytic anemia  
X-linked deafness 5  
X-linked distal spinal muscular atrophy 3  
X-linked dyserythropoietic anemia  
An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen. (DO)
X-linked dyskeratosis congenita +   
X-linked dystonia-parkinsonism  
X-linked Emery-Dreifuss muscular dystrophy 1  
X-linked Emery-Dreifuss muscular dystrophy 6  
X-linked hyper IgM syndrome  
X-linked ichthyosis +   
X-Linked immunodeficiency 74  
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked intellectual developmental disorder 108  
X-linked intellectual developmental disorder 109  
X-linked intellectual disability-short stature-overweight syndrome  
X-linked juvenile retinoschisis 1  
X-linked keratosis follicularis spinulosa decalvans  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques  
X-linked myopathy with excessive autophagy  
X-linked nephrogenic diabetes insipidus  
X-linked nephrolithiasis type I  
X-linked parkinsonism-spasticity syndrome  
X-linked properdin deficiency  
X-linked recessive hypophosphatemic rickets  
X-linked severe combined immunodeficiency  
X-linked severe congenital neutropenia  
X-linked sideroblastic anemia with ataxia  
X-linked spermatogenic failure 2  
X-linked spermatogenic failure 3  
X-linked spinal muscular atrophy 2  
X-linked spinocerebellar ataxia 1  
X-linked spinocerebellar ataxia 5 
X-linked spondyloepimetaphyseal dysplasia +   
X-linked spondyloepiphyseal dysplasia tarda  
X-linked thrombocytopenia with beta-thalassemia  
X-linked VACTERL association  
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME  

Synonyms
Exact Synonyms: X-linked anemia with or without neutropenia and/or platelet abnormalities ;   X-linked anemia with/without neutropenia and/or platelet abnormalities ;   X-linked dyserythropoietic anemia with abnormal platelets and neutropenia ;   XLANP
Primary IDs: OMIM:300835
Xrefs: ORDO:363727
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/16783379/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/22706301/ "DO" "DO"

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