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:acrocardiofacial syndrome
go back to main search page
Accession:DOID:0070419 term browser browse the term
Definition:A syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit. (DO)
Synonyms:exact_synonym: ACFS;   CCGE;   Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly;   cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome
 primary_id: MESH:C563936
 alt_id: DOID:9001696;   MIM:600460
 xref: GARD:1167;   ORDO:2008


show annotations for term's descendants           Sort by:
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18973
    physical disorder 4977
      congenital heart disease 1355
        acrocardiofacial syndrome 0
Path 2
Term Annotations click to browse term
  disease 18973
    Developmental Disease 14386
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13391
        Congenital Abnormalities 7591
          Musculoskeletal Abnormalities 3307
            Craniofacial Abnormalities 2661
              Maxillofacial Abnormalities 310
                Jaw Abnormalities 264
                  orofacial cleft 157
                    cleft palate 118
                      acrocardiofacial syndrome 0
paths to the root