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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;   RDO:0003492
 alt_id: OMIM:139210
 xref: NCI:C123815
For additional species annotation, visit the Alliance of Genome Resources.



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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 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 ClinVar Annotator: match by term: Myhre syndrome
ClinVar Annotator: match by OMIM:139210
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
OMIM
ClinVar
CTD
RGD
PMID:8898652 PMID:9536098 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 17427
    Pathological Conditions, Signs and Symptoms 10356
      Pathologic Processes 6846
        Growth Disorders 777
          Growth Mental Deficiency Syndrome of Myhre 2
Path 2
Term Annotations click to browse term
  disease 17427
    disease of anatomical entity 16758
      nervous system disease 12204
        central nervous system disease 10473
          brain disease 9833
            disease of mental health 7117
              developmental disorder of mental health 4432
                specific developmental disorder 3680
                  intellectual disability 3492
                    Growth Mental Deficiency Syndrome of Myhre 2
paths to the root