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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schwannomatosis 2
CTD
ClinVar
OMIM
PMID:16199547 PMID:24033266 PMID:24362817 PMID:25303977 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 PMID:27921248 PMID:28492532 PMID:29384852 PMID:29409008 PMID:29469822 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30564305 PMID:30664951 PMID:30732632 PMID:30859559 PMID:31128261 PMID:31182298 PMID:31219622 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 17126
    disease of cellular proliferation 6943
      Hereditary Neoplastic Syndromes 912
        neurofibromatosis 34
          neurilemmomatosis 3
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        Nervous System Neoplasms 1688
          nervous system cancer 1061
            peripheral nervous system neoplasm 151
              Nerve Sheath Neoplasms 75
                peripheral nerve sheath neoplasm 42
                  neurofibroma 41
                    neurofibromatosis 34
                      neurilemmomatosis 3
paths to the root