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Orphanet Rare Disease Ontology
| Preferred Name | Rothmund-Thomson syndrome | |
| Synonyms |
Poikiloderma of Rothmund-Thomson RTS |
|
| 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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| ID |
http://www.orpha.net/ORDO/Orphanet_2909 |
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| alternative_term |
Poikiloderma of Rothmund-Thomson RTS
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|
| 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.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2909 |
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| has_age_of_onset |
Infancy Neonatal
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| has_inheritance |
Autosomal recessive
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| hasDbXref |
UMLS:C0032339 ICD-10:Q82.8 MeSH:D011038 ICD-11:LD2B OMIM:268400
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| label |
Rothmund-Thomson syndrome
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|
| notation |
ORPHA:2909
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| part_of |
http://www.orpha.net/ORDO/Orphanet_98649 http://www.orpha.net/ORDO/Orphanet_139033 http://www.orpha.net/ORDO/Orphanet_79390 http://www.orpha.net/ORDO/Orphanet_183490 |
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| prefixIRI |
ORDO:Orphanet_2909
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|
| prefLabel |
Rothmund-Thomson syndrome
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|
| present_in |
Worldwide AND has_cases/families_value : 400.0 (Case) Worldwide AND has_point_prevalence_range : Unknown
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| treeView |
http://www.orpha.net/ORDO/Orphanet_98649 http://www.orpha.net/ORDO/Orphanet_139033 http://www.orpha.net/ORDO/Orphanet_79390 http://www.orpha.net/ORDO/Orphanet_183490 |
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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