| Metadata | |
|---|---|
| ID | DOID:3204 |
| Name | schwannomatosis |
| Definition | A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors. https://health.ucdavis.edu/mindinstitute/clinic/genomic-medicine/RASclinic.html, https://pubmed.ncbi.nlm.nih.gov/35674741/ |
| Xrefs |
ICDO:9560/1 SNOMEDCT_US_2023_03_01:781641005 |
| SKOS |
exactMatch SNOMEDCT_US_2023_03_01:781641005 exactMatch UMLS_CUI:C1335929 exactMatch MIM:PS162091 exactMatch ICD9CM:237.73 exactMatch ORDO:93921 exactMatch ICD10CM:Q85.03 exactMatch NCI:C6557 exactMatch MESH:C536641 exactMatch ICDO:9560/1 narrowMatch ORDO:634492 broadMatch ORDO:634518 |
| Subsets |
DO_cancer_slim DO_rare_slim NCIthesaurus |
| Synonyms |
neurilemmomatosis [EXACT] neurinomatosis [EXACT] SWN [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a RASopathy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |