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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.



show annotations for term's descendants           Sort by:
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 DNA:nonsense mutation:exon:p.Q627X (c.1879C>T) (human)
ClinVar Annotator: match by term: MORM syndrome
OMIM
ClinVar
RGD
PMID:19668215 PMID:25741868 PMID:28492532 PMID:19668215 RGD:12911209 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      MORM Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        central nervous system disease 11414
          brain disease 10710
            disease of mental health 7594
              developmental disorder of mental health 4927
                specific developmental disorder 4191
                  intellectual disability 3995
                    MORM Syndrome 1
paths to the root