loading...| Preferred Name |
Fanconi Anemia |
|
| Synonyms |
Anemias, Fanconi Anemia, Fanconi's Fanconi Panmyelopathy Fanconi Pancytopenia Anemia, Fanconi Fanconi's Anemia Fanconi Anemias Fanconi Hypoplastic Anemia |
|
| Definitions |
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D005199 |
|
| altLabel |
Anemias, Fanconi Anemia, Fanconi's Fanconi Panmyelopathy Fanconi Pancytopenia Anemia, Fanconi Fanconi's Anemia Fanconi Anemias Fanconi Hypoplastic Anemia |
|
| AN |
do not confuse with FANCONI SYNDROME, a dysfunction of proximal renal tubules |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0015625 |
|
| DC |
1 |
|
| definition |
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004) |
|
| DX |
19910101 |
|
| HN |
2002(1975); was see under ANEMIA, APLASTIC 1975-1990 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2002; see FANCONI'S ANEMIA 1991-2001; was see under ANEMIA, APLASTIC 1975-1990 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C537473 http://purl.bioontology.org/ontology/MESH/C563801 http://purl.bioontology.org/ontology/MESH/C563802 http://purl.bioontology.org/ontology/MESH/C563980 http://purl.bioontology.org/ontology/MESH/C563657 http://purl.bioontology.org/ontology/MESH/C564497 |
|
| MDA |
19741111 |
|
| MMR |
20230226 |
|
| MN |
C15.378.050.085.080.280 C15.378.190.223.500.500.280 C16.320.077.280 C18.452.284.280 |
|
| notation |
D005199 |
|
| prefLabel |
Fanconi Anemia |
|
| TERMUI |
T841427 T015952 T841429 T443844 T841428 T015953 |
|
| TH |
OMIM (2013) NLM (2002) NLM (1975) UNK (19XX) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |