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familial rhabdoid tumor

Go to external page http://purl.obolibrary.org/obo/MONDO_0016473

A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma. [ NCIT:C93268 ]

Synonyms: familial posterior fossa brain tumor syndrome of infancy hereditary rhabdoid tumour rhabdoid tumour predisposition syndrome rhabdoid predisposition syndrome RTPS familial posterior fossa brain tumour syndrome of infancy hereditary rhabdoid tumor rhabdoid tumor predisposition syndrome familial rhabdoid tumor

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C2985524 (MONDO:equivalentTo)
  • NCIT:C93268 (MONDO:equivalentTo)
  • GARD:17159 (MONDO:GARD)
  • Orphanet:231108 (MONDO:equivalentTo)
  • MEDGEN:457750 (MONDO:equivalentTo)
  • OMIMPS:609322 (https://orcid.org/0000-0002-6601-2165)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

UK spelling synonym
hereditary rhabdoid tumour

UK spelling synonym
rhabdoid tumour predisposition syndrome

ClinGen label
familial rhabdoid tumor

UK spelling synonym
familial posterior fossa brain tumour syndrome of infancy

abbreviation
RTPS [ Orphanet:231108 ]

exactMatch

http://identifiers.org/medgen/457750

https://omim.org/phenotypicSeries/PS609322

http://purl.obolibrary.org/obo/NCIT_C93268

http://linkedlifedata.com/resource/umls/id/C2985524

http://www.orpha.net/ORDO/Orphanet_231108

id

MONDO:0016473

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml