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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:neurilemmomatosis
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Accession:DOID:3204 term browser browse the term
Synonyms:exact_synonym: SCHWANNOMATOSIS 1;   SCHWANNOMATOSIS 1, SOMATIC;   SCHWANNOMATOSIS 2;   SWNTS1;   congenital cutaneous neurilemmomatosis;   schwannomatosis
 narrow_synonym: LZTR1-RELATED DISORDER;   schwannomatosis, somatic
 related_synonym: Schwannomatosis-2, susceptibility to
 primary_id: MESH:C536641
 alt_id: OMIM:162091;   OMIM:615670
 xref: ICD10CM:Q85.03;   ICD9CM:237.73;   NCI:C6557;   OMIM:PS162091
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
neurilemmomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcription regulator 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:multiple:multiple (human)
DNA, protein:multiple, multiple:multiple, blood (human)
ClinVar Annotator: match by term: Schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 2
CTD
OMIM
ClinVar
RGD
PMID:16199547 PMID:24033266 PMID:24362817 PMID:25303977 PMID:25335493 More... RGD:151708704, RGD:151708708, RGD:151708709 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Schwannomatosis 1 OMIM
ClinVar
PMID:7798645 PMID:9399891 PMID:25741868 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic
DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)
DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 PMID:19124645 More... RGD:151708708, RGD:151708704 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    disease of cellular proliferation 7257
      Hereditary Neoplastic Syndromes 1015
        neurofibromatosis 33
          neurilemmomatosis 3
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        Nervous System Neoplasms 1741
          nervous system cancer 1109
            peripheral nervous system neoplasm 160
              Nerve Sheath Neoplasms 77
                peripheral nerve sheath neoplasm 44
                  neurofibroma 40
                    neurofibromatosis 33
                      neurilemmomatosis 3
paths to the root