Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:pantothenate kinase-associated neurodegeneration
go back to main search page
Accession:EFO:MONDO:0009319 term browser browse the term
Definition:Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.
Synonyms:exact_synonym: Hallervorden-Spatz disease;   Hallervorden-Spatz syndrome;   NBIA1;   PKAN;   brain iron accumulation type I syndrome;   neurodegeneration with brain iron accumulation 1;   neurodegeneration with brain iron accumulation type 1;   pigmentary pallidal degeneration
 related_synonym: Pkan neuroaxonal dystrophy, juvenile-onset;   neuroaxonal dystrophy, late infantile
 alt_id: MONDO:0009319
 xref: DOID:3981;   GARD:6564;   ICD9:333.0;   MEDGEN:6708;   MESH:D006211;   MIM:234200;   NANDO:1200534;   NANDO:2200886;   NCI:C84988;   NORD:1550;   ORDO:157850;   SCTID:2992000;   UMLS:C0018523

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            movement disorder 0
              neurodegeneration with brain iron accumulation 0
                pantothenate kinase-associated neurodegeneration 0
                  atypical pantothenate kinase-associated neurodegeneration 0
                  classic pantothenate kinase-associated neurodegeneration 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            central nervous system disease 0
              brain disease 0
                mental or behavioural disorder 0
                  cognitive disorder 0
                    dementia 0
                      hereditary dementia 0
                        Huntington disease-like syndrome 0
                          neuroacanthocytosis 0
                            pantothenate kinase-associated neurodegeneration 0
                              atypical pantothenate kinase-associated neurodegeneration 0
                              classic pantothenate kinase-associated neurodegeneration 0
paths to the root