loading...| Preferred Name |
Fanconi Anemia |
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| Synonyms |
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| Definitions |
A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036568 |
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| Database_Cross_Reference |
NDFRT:N0000001209 MTH:NOCODE MDR:10055206 MEDLINEPLUS:5955 NCI_NCI-GLOSS:CDR0000045499 SNMI:D4-00907 LCH_NW:sh88007051 NCI:C62505 CSP:0427-0659 PDQ:CDR0000285961 CHV:0000004893 MTHICD9:284.09 SNM:D-5166 ICD10CM:D61.09 RCDAE:D2001 SNOMEDCT_US:30575002 RCD:D2001 DO:DOID:13636 DXP:U000632 JABL:611 DRUGBANK:DB08604 DXP:NOCODE MSH:D005199 MEDCIN:30335 MDR:10016218 CHV:0000052558 SNM:D-4033 |
|
| Definition |
A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. |
|
| label |
Fanconi Anemia |
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| MCID |
MC00004961 |
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| PMOID |
PMO:00036568 |
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| prefixIRI |
pmo:PMO_00036568 |
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| prefLabel |
Fanconi Anemia |
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| Synonym |
fanconi's anemia Anemia, Fanconi's congenital pancytopenia Fanconi's anaemia Fanconi's Anemia Fanconi's hypoplastic anemia PANMYELOPATHY, FANCONI Fanconi's familial refr.anaem. constitutional aplastic anemia PANCYTOPENIA, CONGENITAL Fanconi pancytopenia syndrome Fanconi's anemia (disorder) fanconis syndrome Fanconi Pancytopenia Fanconi's familial refractory anaemia anemia fanconis Fanconi Panmyelopathy Primary Erythroid Hypoplasia FA Panmyelopathy, Fanconi Anemias, Fanconi anemia fanconi Fanconi's anemia fanconi anemia Fanconi's hypoplastic anaemia Fanconi panmyelopathy Fa FANCONI'S ANEMIA Fanconi Hypoplastic Anemia congenital aplastic anemia Fanconi's pancytopenia syndrome anemia fanconi's Fanconi's anemia (diagnosis) FANCONI ANEMIA Fanconi's familial refractory anemia fanconi's anaemia Fanconi pancytopenia Anemia, Fanconi Fanconi dysplasia Fanconi Anemia [Disease/Finding] Fanconi Anemias fanconi syndrome Fanconi anemia Pancytopenia, Congenital fanconi anemias PRIMARY ERYTHROID HYPOPLASIA |
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| Tree Number |
T9.8.4.29.2 T9.11.1.17.11 T9.5.2.7.7.1.2 T9.5.2.4.5.1.2 |
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| subClassOf |