Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
go back to main search page
Accession:DOID:9005822 term browser browse the term
Definition:An autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum.
Synonyms:exact_synonym: BANDDOS
 primary_id: OMIM:618476
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf1r colony stimulating factor 1 receptor JBrowse link 18 56,414,493 56,458,300 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        neurodegenerative disease 2691
          BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                osteosclerosis 44
                  Dysosteosclerosis 1
                    BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 1
paths to the root

NHLBI Logo

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