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Results: 5

1.

Fanconi anemia, complementation group E

Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk of malignancy. Physical abnormalities, present in 60%-75% of affected individuals, include one or more of the following: short stature; abnormal skin pigmentation; malformations of the thumbs, forearms, skeletal system, eyes, kidneys and urinary tract, ears (and decreased hearing), heart, gastrointestinal system, central nervous system; hypogonadism; and developmental delay. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. By age 40 to 50 years, the estimated cumulative incidence of bone marrow failure is 90%; the incidence of hematologic malignancies (primarily acute myeloid leukemia) 10%-30%; and of nonhematologic malignancies (solid tumors, particularly of the head and neck, skin, GI tract, and genital tract) 25%-30%. [from GeneReviews]

MedGen UID:
463628
Concept ID:
C3160739
Disease or Syndrome
2.

Error occurred: cannot get document summary

ID:
775793

3.

Race: Other

Individuals who do not necessarily identify with any particular race or others who do not wish to self select into a racial category(ies). [from NCI]

MedGen UID:
760266
Concept ID:
C0425379
Finding
4.

Facial expression

Observable changes of expression in the face in response to emotional stimuli. [from MeSH]

MedGen UID:
41944
Concept ID:
C0015457
Finding
5.

Social problem

Situations affecting a significant number of people, that are believed to be sources of difficulty or threaten the stability of the community, and that require programs of amelioration. [from MeSH]

MedGen UID:
20015
Concept ID:
C0037431
Finding

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