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Experimental Factor Ontology
Last uploaded:
February 17, 2025
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| Id | http://www.orpha.net/ORDO/Orphanet_2909
http://www.orpha.net/ORDO/Orphanet_2909
|
|---|---|
| Preferred Name | obsolete_Rothmund-Thomson syndrome |
| Definitions |
Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.
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| Synonyms |
Poikiloderma of Rothmund-Thomson
RTS
|
| Obsolete | true |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition_citation | orphanet |
|---|---|
| definition | Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers. |
| preferred label |
obsolete_Rothmund-Thomson syndrome
|
| label |
obsolete_Rothmund-Thomson syndrome
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| prefLabel |
obsolete_Rothmund-Thomson syndrome
|
| database_cross_reference |
UMLS:C0032339
MeSH:D011038
MedDRA:10052510
ICD10:Q82.8
OMIM:268400
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| reason_for_obsolescence |
Replaced with Mondo term.
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| subClassOf | |
| obsoleted_in_version |
3.41.0
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| deprecated |
true
|
| type | |
| term replaced by | |
| has_exact_synonym |
Poikiloderma of Rothmund-Thomson
RTS
|
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