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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: OMIM:617053
 xref: NCI:C147530
For additional species annotation, visit the Alliance of Genome Resources.


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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
OMIM
PMID:16960814 PMID:18094730 PMID:24029230 PMID:25741868 PMID:27182967 PMID:28346228 PMID:29266745 PMID:29365320 PMID:29506479 PMID:30046003 PMID:31208161 PMID:31638924 PMID:31666768 PMID:32106287 NCBI chr 4:28,304,967...28,324,637
Ensembl chr 4:28,305,002...28,310,178
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      hematopoietic system disease 1652
        bone marrow disease 482
          MIRAGE Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      endocrine system disease 5011
        adrenal gland disease 171
          adrenal cortex disease 76
            adrenal cortical hypofunction 18
              Addison's disease 8
                MIRAGE Syndrome 1
paths to the root