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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: Neurilemmomatosis, congenital cutaneous;   SCHWANNOMATOSIS 1;   SCHWANNOMATOSIS 1, SOMATIC;   SCHWANNOMATOSIS 2;   SWNTS1;   schwannomatosis
 narrow_synonym: LZTR1-RELATED DISORDER;   SCHWANNOMATOSIS, SOMATIC
 related_synonym: Schwannomatosis-2, susceptibility to
 primary_id: MESH:C536641
 alt_id: OMIM:162091;   OMIM:615670;   RDO:0002280
 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 ClinVar Annotator: match by OMIM:615670
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schwannomatosis 2
ClinVar
CTD
OMIM
PMID:16356934, PMID:18072270, PMID:19582488, PMID:22105938, PMID:23401320, PMID:24362817, PMID:25335493, PMID:25480913, PMID:25741868, PMID:25795793, PMID:27472264, PMID:27856782, PMID:27921248, PMID:28295212, PMID:28492532, PMID:29384852, PMID:29409008, PMID:30368668, PMID:30442762, PMID:30442766, PMID:30481304, PMID:30859559, PMID:31128261, PMID:31438995, PMID:31825158 NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
JBrowse link
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Schwannomatosis 1
ClinVar Annotator: match by OMIM:162091
OMIM
ClinVar
PMID:7798645, PMID:9399891, PMID:25741868 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
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 1
ClinVar Annotator: match by OMIM:162091
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SCHWANNOMATOSIS 1, SOMATIC
OMIM
ClinVar
CTD
PMID:17357086, PMID:18285426, PMID:18414213, PMID:18647326, PMID:19124645, PMID:19582488, PMID:20930055, PMID:22038540, PMID:22434358, PMID:22949514, PMID:24362817, PMID:24728327, PMID:24933152, PMID:25741868, PMID:26073604, PMID:28492532, PMID:29517885 NCBI chr20:13,679,955...13,702,821
Ensembl chr20:13,680,716...13,704,931
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of cellular proliferation 5917
      Hereditary Neoplastic Syndromes 815
        neurofibromatosis 13
          neurilemmomatosis 3
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        Nervous System Neoplasms 1665
          nervous system cancer 1608
            peripheral nervous system neoplasm 130
              Nerve Sheath Neoplasms 56
                peripheral nerve sheath neoplasm 23
                  neurofibroma 22
                    neurofibromatosis 13
                      neurilemmomatosis 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.