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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
 primary_id: MESH:C537620
 alt_id: OMIM:139210
 xref: NCI:C123815


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Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130006029 ATAC-STARR-seq lymphoblastoid silent region 3532 IAGP ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease ClinVar PMID:29625025 NCBI chr11:65,546,311...65,546,580 JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP ClinVar Annotator: match by term: Heritable Thoracic Aortic Disease ClinVar PMID:25741868 PMID:29625025 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G SMAD4 SMAD family member 4 IAGP
EXP		 DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M (human)
ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Growth mental deficiency syndrome of Myhre | 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: LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE | ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by term: Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Myhre syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:7296942 PMID:8898652 PMID:9582123 PMID:9679244 PMID:9811934 More... RGD:12880042 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Pathologic Processes 13181
        Growth Disorders 1314
          Growth Mental Deficiency Syndrome of Myhre 3
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            disease of mental health 17210
              developmental disorder of mental health 12014
                specific developmental disorder 7407
                  intellectual disability 7166
                    Growth Mental Deficiency Syndrome of Myhre 3
paths to the root