Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
go back to main search page
Accession:DOID:9003030 term browser browse the term
Synonyms:exact_synonym: SOFT;   SOFT Syndrome
 primary_id: OMIM:614813;   RDO:9001072
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by OMIM:614813
ClinVar Annotator: match by term: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
OMIM
ClinVar
PMID:18414213, PMID:22440536, PMID:22840363, PMID:22840364, PMID:25558065, PMID:25741868 NCBI chr 8:114,982,764...115,050,844
Ensembl chr 8:114,986,326...115,050,728
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Pathological Conditions, Signs and Symptoms 8754
      Pathologic Processes 6130
        Growth Disorders 325
          Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            nail disease 57
              Malformed Nails 21
                Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.