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Term:
X-linked sideroblastic anemia with ataxia (DOID:0050554)
Annotations: Rat: (2) Mouse: (2) Human: (3) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Aarskog syndrome +   
adrenoleukodystrophy +   
African iron overload 
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
ataxia telangiectasia +   
autosomal dominant sideroblastic anemia 4  
autosomal recessive pyridoxine-refractory sideroblastic anemia 2  
autosomal recessive pyridoxine-refractory sideroblastic anemia 3  
Autosomal Sideroblastic Anemia  
Barth syndrome +   
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Boucher-Neuhauser syndrome  
Brunner syndrome  
CD40 ligand deficiency +   
cerebellar ataxia +   
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  
congenital disorder of glycosylation Iy  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
Dent disease +   
Duchenne muscular dystrophy +   
factor VIII deficiency +   
Fanconi anemia complementation group B  
FG syndrome  
Gemignani Syndrome 
glycogen storage disease IXa  
glycogen storage disease IXd  
hemophilia B  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA  
Hypochromic Microcytic Anemia with Iron Overload 1  
hypogonadotropic hypogonadism 1 with or without anosmia  
IGSF1 deficiency syndrome  
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
isolated growth hormone deficiency type III  
Joubert syndrome 10  
Kennedy's disease  
Lesch-Nyhan syndrome +   
Machado-Joseph disease +   
MASA syndrome  
megalocornea +   
MEHMO syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities  
Norrie disease  
occipital horn syndrome  
oculocerebrorenal syndrome +   
Ogden syndrome  
Partington syndrome  
Pelizaeus-Merzbacher disease +   
phosphoribosylpyrophosphate synthetase superactivity  
Prieto syndrome 
pyridoxine-responsive sideroblastic anemia 
Renpenning syndrome  
retinitis pigmentosa 23  
Ritscher-Schinzel syndrome 2  
sideroblastic anemia 1  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
spastic ataxia +   
Spinocerebellar Ataxia and Plaque-Like Deposits 
Spinocerebellar Ataxia with Dysmorphism 
Spinocerebellar Ataxia with Epilepsy  
Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 
Spinocerebellar Ataxia, Autosomal Recessive 23  
Spinocerebellar Ataxia, Autosomal Recessive 24  
Spinocerebellar Ataxia, Autosomal Recessive 27  
Spinocerebellar Ataxia, X-Linked 1  
Spinocerebellar Ataxia, X-Linked 5 
spondyloepiphyseal dysplasia tarda +   
syndromic X-linked intellectual disability 17 
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  
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
X-linked adrenal hypoplasia congenita  
X-linked agammaglobulinemia  
X-linked chondrodysplasia punctata 1  
X-linked chronic granulomatous disease  
X-linked cone-rod dystrophy 3  
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 with magnesium defect, Epstein-Barr virus infection, and neoplasia  
X-linked juvenile retinoschisis 1  
X-linked lymphoproliferative syndrome 1  
X-linked lymphoproliferative syndrome 2  
X-linked myopathy with excessive autophagy  
X-linked recessive hypophosphatemic rickets  
X-Linked Recessive Nephrolithiasis with Renal Failure  
X-linked severe combined immunodeficiency  
X-linked sideroblastic anemia with ataxia  
A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. (DO)
X-linked spermatogenic failure 2  

Synonyms
Exact Synonyms: ASAT ;   Pagon Bird Detter syndrome ;   X-linked sideroblastic anemia and ataxia ;   XLSA-A ;   sex-linked hypochromic sideroblastic anemia ;   sideroblastic anemia and ataxia ;   sideroblastic anemia and spinocerebellar ataxia ;   sideroblastic anemia with spinocerebellar ataxia
Primary IDs: MESH:C536358
Alternate IDs: DOID:0060064 ;   OMIM:301310 ;   RDO:0001914 ;   RDO:9004709
Definition Sources: https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia

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