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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:Progeroid Syndrome, Congenital, Petty Type
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Accession:DOID:9000279 term browser browse the term
Synonyms:exact_synonym: CRANIOFACIAL DYSOSTOSIS, HYPERTRICHOSIS, HYPOPLASIA OF LABIA MAJORA, DENTAL AND EYE ANOMALIES, PATENT DUCTUS ARTERIOSUS, AND NORMAL INTELLIGENCE;   FONTAINE PROGEROID SYNDROME;   FPS;   GORLIN-CHAUDHRY-MOSS SYNDROME
 primary_id: MESH:C567360
 alt_id: OMIM:612289;   RDO:0015451
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Progeroid Syndrome, Congenital, Petty Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a24 solute carrier family 25 member 24 ISO ClinVar Annotator: match by term: Progeroid syndrome, congenital, petty type
ClinVar Annotator: match by term: Fontaine progeroid syndrome
ClinVar
OMIM
PMID:10215548 PMID:10594888 PMID:19731360 PMID:21216154 PMID:25741868 PMID:29100093 PMID:29100094 NCBI chr 2:211,930,371...211,967,511
Ensembl chr 2:211,930,326...211,967,505
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      progeria 18
        Progeroid Syndrome, Congenital, Petty Type 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              progeria 18
                Progeroid Syndrome, Congenital, Petty Type 1
paths to the root