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Mondo Disease Ontology
| Preferred Name | Rothmund-Thomson syndrome type 2 | |
| Synonyms |
RTS2 Rothmund-Thomson syndrome, type 2 poikiloderma of Rothmund-Thomson type 2 |
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| Definitions |
Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0016369 |
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| database_cross_reference |
icd11.foundation:2111040755 UMLS:C5203410 NCIT:C178827 MEDGEN:1684753 Orphanet:221016 OMIM:268400 GARD:17135
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| definition |
Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.
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| has_exact_synonym |
RTS2 Rothmund-Thomson syndrome, type 2 poikiloderma of Rothmund-Thomson type 2
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| IAO_0000233 | ||
| id |
MONDO:0016369
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_subtype_of_a_disorder |
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| label |
Rothmund-Thomson syndrome type 2
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| notation |
MONDO:0016369
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| prefLabel |
Rothmund-Thomson syndrome type 2
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| skos_exactMatch |
http://identifiers.org/medgen/1684753 http://linkedlifedata.com/resource/umls/id/C5203410 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/2111040755 |
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