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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:Leber congenital amaurosis with early-onset deafness
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Accession:DOID:0112240 term browser browse the term
Definition:A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in TUBB4B on chromosome 9q34.3. (DO)
Synonyms:exact_synonym: LCAEOD
 primary_id: OMIM:617879
 alt_id: DOID:9009120
For additional species annotation, visit the Alliance of Genome Resources.


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Leber congenital amaurosis with early-onset deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4b tubulin, beta 4B class IVb ISO ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS ClinVar
OMIM
PMID:25741868 PMID:29198720 NCBI chr 3:2,441,585...2,444,369
Ensembl chr 3:2,441,733...2,444,281
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    physical disorder 3071
      Leber congenital amaurosis 95
        Leber congenital amaurosis with early-onset deafness 1
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          monogenic disease 7121
            autosomal genetic disease 6276
              autosomal dominant disease 4450
                Leber congenital amaurosis with early-onset deafness 1
paths to the root