Ontology Browser

glycogen storage disease IXa (DOID:0111042)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Aarskog syndrome +   
adrenoleukodystrophy +   
Aland Island eye disease  
Allan-Herndon-Dudley syndrome  
Barth syndrome +   
blue cone monochromacy  
Borjeson-Forssman-Lehmann syndrome  
Brooks-Wisniewski-Brown syndrome 
Brunner syndrome  
Bruton-type agammaglobulinemia  
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  
congenital stationary night blindness 1A  
congenital stationary night blindness 2A  
Dent disease +   
Duchenne muscular dystrophy +   
factor VIII deficiency +   
FG syndrome  
glycogen storage disease IXa  
A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. (DO)
glycogen storage disease IXb  
glycogen storage disease IXc  
glycogen storage disease IXd  
hemophilia B  
hereditary sensory neuropathy X-linked 
hereditary spastic paraplegia 16 
hereditary spastic paraplegia 2  
hereditary spastic paraplegia 34 
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 +   
MASA syndrome  
MEHMO syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome 2  
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities  
Norrie disease  
oculocerebrorenal syndrome +   
Ogden syndrome  
Partington syndrome  
Pelizaeus-Merzbacher disease +   
Prieto syndrome 
Renpenning syndrome  
sideroblastic anemia 1  
Simpson-Golabi-Behmel syndrome type 1  
Simpson-Golabi-Behmel syndrome type 2  
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  
Wilson-Turner syndrome  
Wiskott-Aldrich syndrome +   
X-linked adrenal hypoplasia congenita  
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 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  
X-linked spermatogenic failure 2  

Exact Synonyms: GSD IXA2 ;   GSD VIII ;   GSD type 9A ;   GSD type IXa ;   GSD8 ;   GSD9A ;   GSD9A1 ;   GSD9A2 ;   XLG1 ;   XLG2 ;   glycogen storage disease IXA2 ;   glycogen storage disease IXa1 ;   glycogen storage disease VIII ;   glycogen storage disease type 9A ;   glycogen storage disease type IXA2 ;   glycogen storage disease type IXa ;   glycogenosis type 9A ;   glycogenosis type IXa ;   liver glycogenosis, X-linked, type I ;   liver glycogenosis, X-linked, type II
Primary IDs: MESH:C567579
Alternate IDs: OMIM:306000 ;   RDO:0010085 ;   RDO:0015626
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/2303074, https://www.ncbi.nlm.nih.gov/pubmed/7711737

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