loading...| Preferred Name | Fanconi anemia | |
| Synonyms |
Fanconi pancytopenia |
|
| Definitions |
A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_84 |
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| alternative_term |
Fanconi pancytopenia |
|
| definition |
A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=84 |
|
| has_age_of_onset |
Childhood |
|
| has_inheritance |
Autosomal recessive X-linked recessive |
|
| hasDbXref |
OMIM:227650 ICD-11:3A70.0 OMIM:613390 OMIM:300514 OMIM:610832 OMIM:614082 OMIM:614083 UMLS:C0015625 MeSH:D005199 OMIM:615272 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:613951 OMIM:603467 ICD-10:D61.0 OMIM:609054 OMIM:609053 OMIM:617883 OMIM:616435 OMIM:617243 OMIM:617244 OMIM:617247 MedDRA:10055206 |
|
| label |
Fanconi anemia |
|
| notation |
ORPHA:84 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_79375 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_68383 http://www.orpha.net/ORDO/Orphanet_183466 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_93614 http://www.orpha.net/ORDO/Orphanet_404574 |
|
| prefixIRI |
ORDO:Orphanet_84 |
|
| prefLabel |
Fanconi anemia |
|
| present_in |
Europe AND has_birth_prevalence_average_value : 0.62 AND has_birth_prevalence_range : 1-9 / 1 000 000 China AND has_point_prevalence_average_value : 0.111 AND has_point_prevalence_range : 1-9 / 1 000 000 Specific population AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 Israel AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000 Specific population AND has_point_prevalence_average_value : 3.3 AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_79375 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_68383 http://www.orpha.net/ORDO/Orphanet_183466 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_102285 http://www.orpha.net/ORDO/Orphanet_93614 http://www.orpha.net/ORDO/Orphanet_404574 |
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| subClassOf |