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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:Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
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Accession:DOID:9001181 term browser browse the term
Synonyms:exact_synonym: CHROMOSOME XQ28 DELETION SYNDROME;   CHROMOSOME Xq28 DELETION SYNDROME, 3.4-KB;   MYMY4;   SYNDROMIC MOYAMOYA DISEASE
 primary_id: OMIM:300845;   RDO:0010083
For additional species annotation, visit the Alliance of Genome Resources.


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Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome ClinVar PMID:24011989 PMID:25741868 NCBI chr  X:121,515,417...121,550,373
Ensembl chr  X:121,507,084...121,545,263
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G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Chromosome Xq28 deletion syndrome ClinVar PMID:24011989 NCBI chr  X:121,505,117...121,511,674
Ensembl chr  X:121,505,141...121,510,347
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13595
    disease of anatomical entity 13254
      endocrine system disease 4985
        gonadal disease 895
          hypogonadism 113
            Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 2
Path 2
Term Annotations click to browse term
  disease 13595
    disease of anatomical entity 13254
      nervous system disease 10970
        central nervous system disease 9605
          brain disease 9025
            cerebrovascular disease 778
              intracranial arterial disease 244
                cerebral arterial disease 194
                  Moyamoya disease 7
                    Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 2
paths to the root