loading...| Preferred Name | Infantile myofibromatosis | |
| Synonyms |
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| Definitions |
A rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. It contains myofibroblasts. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_2591 |
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| definition |
A rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. It contains myofibroblasts. |
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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=2591 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Not applicable Autosomal recessive Autosomal dominant |
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| hasDbXref |
OMIM:228550 ICD-11:2F7C UMLS:C0432284 ICD-10:D48.1 MeSH:C562978 OMIM:615293 |
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| label |
Infantile myofibromatosis |
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| notation |
ORPHA:2591 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_271832 http://www.orpha.net/ORDO/Orphanet_79386 http://www.orpha.net/ORDO/Orphanet_183487 |
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| prefixIRI |
ORDO:Orphanet_2591 |
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| prefLabel |
Infantile myofibromatosis |
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| present_in |
Worldwide AND has_point_prevalence_range : Unknown Europe AND has_birth_prevalence_average_value : 0.67 AND has_birth_prevalence_range : 1-9 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_271832 http://www.orpha.net/ORDO/Orphanet_79386 http://www.orpha.net/ORDO/Orphanet_183487 |
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| subClassOf |