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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:MIRAGE Syndrome
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Accession:DOID:9009218 term browser browse the term
Definition:A form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy.
Synonyms:exact_synonym: MIRAGE;   myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy
 primary_id: MIM:617053
 xref: NCI:C147530


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MIRAGE Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samd9 sterile alpha motif domain containing 9 ISO ClinVar Annotator: match by term: MIRAGE syndrome | ClinVar Annotator: match by term: MYELODYSPLASIA, INFECTION, RESTRICTION OF GROWTH, ADRENAL HYPOPLASIA, GENITAL PHENOTYPES, AND ENTEROPATHY OMIM
ClinVar		 PMID:16960814 PMID:18094730 PMID:24029230 PMID:25741868 PMID:27182967 More... NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      hematopoietic system disease 3821
        bone marrow disease 839
          MIRAGE Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      endocrine system disease 7029
        adrenal gland disease 293
          adrenal cortex disease 100
            adrenal cortical hypofunction 18
              Addison's disease 8
                MIRAGE Syndrome 1
paths to the root