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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: 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: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type OMIM
ClinVar		 PMID:25741868 PMID:26365341 PMID:28492532 PMID:30063090 NCBI chrNW_004624746:28,808,364...28,862,125
Ensembl chrNW_004624746:28,808,364...28,862,113 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14165
    Pathological Conditions, Signs and Symptoms 11164
      Pathologic Processes 7037
        Growth Disorders 952
          Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
Path 2
Term Annotations click to browse term
  disease 14165
    disease of anatomical entity 13877
      nervous system disease 12184
        central nervous system disease 10959
          brain disease 10281
            disease of mental health 7357
              developmental disorder of mental health 5032
                specific developmental disorder 4159
                  intellectual disability 3974
                    Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
paths to the root