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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:Growth Mental Deficiency Syndrome of Myhre
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Accession:DOID:9000838 term browser browse the term
Synonyms:exact_synonym: LAPS;   Laps Syndrome;   Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature;   MYHRS;   Myhre syndrome
 narrow_synonym: HERITABLE THORACIC AORTIC DISEASE;   HERITABLE THORACIC AORTIC DISEASE WITHOUT JUVENILE POLYPOSIS AND HEREDITARY HEMORRHAGIC TELANGIECTASIA
 xref: MESH:C537620;   MIM:139210;   MONDO:0007688;   NCI:C123815


show annotations for term's descendants           Sort by:
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease ClinVar PMID:25741868 PMID:29625025 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human)
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: LAPS SYNDROME | ClinVar Annotator: match by term: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome		 OMIM
CTD
ClinVar
RGD		 PMID:7296942 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 More... RGD:12880042 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13604
      Pathologic Processes 8255
        Growth Disorders 1021
          Growth Mental Deficiency Syndrome of Myhre 2
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            disease of mental health 8427
              developmental disorder of mental health 5649
                specific developmental disorder 4605
                  intellectual disability 4384
                    Growth Mental Deficiency Syndrome of Myhre 2
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