SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/723992000
http://purl.bioontology.org/ontology/SNOMEDCT/723992000
Preferred Name

Kufor Rakeb syndrome

Definitions
A rare genetic neurodegenerative disorder with characteristics of juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy and cognitive impairment. There is evidence that this syndrome is caused by homozygous or compound heterozygous mutation in the ATP13A2 gene encoding a lysosomal type 5 ATPase, on chromosome 1p36. Some patients have neuroradiological evidence of iron deposition in the basal ganglia.
Synonyms
PARK9 - Parkinson disease 9
Parkinson disease 9
Kufor Rakeb syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
Delete Subject Author Type Created
No notes to display
  • Problem retrieving properties:

Notes

Filter:
Add NCBO Web Widgets to your site for SNOMEDCT
Widget type Widget demonstration
Jump To

Type a class name from SNOMEDCT and jump to it in BioPortal

Get code
Form Autocomplete

Fill your form fields with classes from SNOMEDCT

Get code
Example 1 (start typing the class name to get its full URI)

Example 2 (get the ID for a class)

Example 3 (get the preferred name for a class)
Visualization

Display a visualization for a given class in SNOMEDCT

Get code
Tree Widget

Display a class tree with a search field for SNOMEDCT

Get code