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   new 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

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;   SHORT STATURE DUE TO PRIMARY ACID-LABILE SUBUNIT DEFICIENCY
 primary_id: OMIM:615961


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: Short stature due to primary acid-labile subunit deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14762184 PMID:17726072 PMID:18303074 PMID:20591980 PMID:22678306 More... NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Pathologic Processes 7983
        Growth Disorders 1009
          Acid-Labile Subunit Deficiency 1
paths to the root