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

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:Acid-Labile Subunit Deficiency
go back to main search page
Accession:DOID:9008272 term browser browse the term
Definition:Associated with severely reduced IGF1 and IGFBP3 concentrations and mild growth retardation. (OMIM)
Synonyms:exact_synonym: ACLSD
 primary_id: OMIM:615961
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Acid-Labile Subunit Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO ClinVar Annotator: match by term: Acid-labile subunit deficiency OMIM
ClinVar
PMID:14762184 PMID:17726072 PMID:18303074 PMID:20591980 PMID:22678306 PMID:22991227 PMID:23488611 PMID:24335034 PMID:25741868 PMID:27018247 PMID:28492532 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Pathological Conditions, Signs and Symptoms 9879
      Pathologic Processes 6532
        Growth Disorders 765
          Acid-Labile Subunit Deficiency 1
paths to the root