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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: IMPAIRED INTELLECTUAL DEVELOPMENT, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME;   MORMS;   Mental retardation, truncal Obesity, Retinal dystrophy and Micropenis;   Mental retardation, truncal Obesity, Retinal dystrophy and Micropenis syndrome
 broad_synonym: INPP5E-RELATED CONDITION
 primary_id: MESH:C536984
 alt_id: OMIM:610156



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)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INPP5E-related condition | ClinVar Annotator: match by term: MORM syndrome
OMIM
CTD
ClinVar
RGD
PMID:9536098 PMID:15786477 PMID:17576681 PMID:19668215 PMID:19668216 More... 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 21128
    syndrome 10832
      MORM Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              developmental disorder of mental health 5543
                specific developmental disorder 4505
                  intellectual disability 4290
                    MORM Syndrome 1
paths to the root