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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Hypomyelinating Leukodystrophy 17
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Accession:DOID:9009183 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by poor, if any, development apparent from infancy. Affected individuals never learn to walk or speak, and have early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD) with brain imaging showing multiple abnormalities. (OMIM)
Synonyms:exact_synonym: HLD17;   hypomyelinating leukodystrophy-17
 primary_id: OMIM:618006
For additional species annotation, visit the Alliance of Genome Resources.


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Hypomyelinating Leukodystrophy 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 ISO OMIM NCBI chrNW_004955460:13,754,487...13,762,726
Ensembl chrNW_004955460:13,754,487...13,762,726
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11876
    Developmental Diseases 8481
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7457
        genetic disease 7032
          Nervous System Heredodegenerative Disorders 1757
            Hereditary Central Nervous System Demyelinating Diseases 40
              hypomyelinating leukodystrophy 24
                Hypomyelinating Leukodystrophy 17 1
Path 2
Term Annotations click to browse term
  disease 11876
    disease of anatomical entity 11432
      nervous system disease 9351
        central nervous system disease 7910
          brain disease 7304
            Metabolic Brain Diseases 520
              Metabolic Brain Diseases, Inborn 456
                Hereditary Central Nervous System Demyelinating Diseases 40
                  hypomyelinating leukodystrophy 24
                    Hypomyelinating Leukodystrophy 17 1
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