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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
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 16108
    syndrome 6992
      progeria 17
        Progeroid Syndrome, Congenital, Petty Type 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              progeria 17
                Progeroid Syndrome, Congenital, Petty Type 1
paths to the root

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