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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:Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
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Accession:DOID:9007161 term browser browse the term
Synonyms:exact_synonym: RSPRY1-RELATED CONDITION;   SEMDFA;   progressive spondyloepimetaphyseal dysplasia, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis
 primary_id: MIM:616723
 alt_id: RDO:9001141


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Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspry1 ring finger and SPRY domain containing 1 ISO ClinVar Annotator: match by term: RSPRY1-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type OMIM
ClinVar		 PMID:25741868 PMID:26365341 PMID:28492532 PMID:30063090 NCBI chr19:10,352,449...10,403,015
Ensembl chr19:10,353,821...10,401,102 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13622
      Pathologic Processes 8324
        Growth Disorders 1024
          Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          brain disease 11845
            disease of mental health 8440
              developmental disorder of mental health 5641
                specific developmental disorder 4605
                  intellectual disability 4377
                    Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
paths to the root