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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:Noonan syndrome-like disorder with loose anagen hair 1
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Accession:DOID:0080692 term browser browse the term
Definition:A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25. (DO)
Synonyms:exact_synonym: Mazzanti syndrome;   NSLH;   NSLH1;   SHOC2-RELATED CONDITION;   Tosti syndrome
 primary_id: OMIM:607721

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Noonan syndrome-like disorder with loose anagen hair 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More... NCBI chrNW_004955485:430,493...517,767
Ensembl chrNW_004955485:430,493...517,126 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      RASopathy 250
        Noonan syndrome-like disorder with loose anagen hair 2
          Noonan syndrome-like disorder with loose anagen hair 1 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        Neurologic Manifestations 8844
          sensory system disease 6162
            mouth disease 922
              tooth disease 405
                periodontal disease 115
                  gingival disease 21
                    Giant Cell Granuloma 6
                      Noonan Like Syndrome 6
                        Noonan syndrome-like disorder with loose anagen hair 2
                          Noonan syndrome-like disorder with loose anagen hair 1 1
paths to the root