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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:MORM Syndrome
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Accession:DOID:9006992 term browser browse the term
Synonyms:exact_synonym: MORMS;   Mental retardation, truncal Obesity, Retinal dystrophy and Micropenis;   Mental retardation, truncal Obesity, Retinal dystrophy and Micropenis syndrome
 primary_id: MESH:C536984
 alt_id: OMIM:610156
For additional species annotation, visit the Alliance of Genome Resources.


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MORM Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by OMIM:610156
DNA:nonsense mutation:exon:p.Q627X (c.1879C>T) (human)
OMIM
ClinVar
PMID:19668215, PMID:19668215 RGD:12911209 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      MORM Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    MORM Syndrome 1
paths to the root