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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 2
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Accession:DOID:0080693 term browser browse the term
Definition:A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23. (DO)
Synonyms:exact_synonym: NSLH2;   PPP1CB-RELATED CONDITION
 primary_id: OMIM:617506


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Noonan syndrome-like disorder with loose anagen hair 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP1CB protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 | ClinVar Annotator: match by term: PPP1CB-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 More... NCBI chr2A:28,758,176...28,809,561
Ensembl chr2A:28,862,083...28,889,401 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15684
    syndrome 10219
      RASopathy 258
        Noonan syndrome-like disorder with loose anagen hair 2
          Noonan syndrome-like disorder with loose anagen hair 2 1
Path 2
Term Annotations click to browse term
  disease 15684
    disease of anatomical entity 15295
      nervous system disease 13320
        Neurologic Manifestations 9654
          sensory system disease 6644
            mouth disease 983
              tooth disease 436
                periodontal disease 130
                  gingival disease 23
                    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 2 1
paths to the root