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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: SEMDFA;   progressive spondyloepimetaphyseal dysplasia, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis
 primary_id: OMIM:616723
 alt_id: RDO:9001141
For additional species annotation, visit the Alliance of Genome Resources.



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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: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
ClinVar
OMIM
PMID:25741868 PMID:26365341 NCBI chr19:10,352,449...10,403,015
Ensembl chr19:10,353,821...10,401,102
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Pathologic Processes 6728
        Growth Disorders 783
          Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
paths to the root