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Items: 4

1.

Ichthyosis prematurity syndrome

MedGen UID:
324839
Concept ID:
C1837610
Disease or Syndrome
2.

Transplantation

MedGen UID:
881115
Concept ID:
CN236682
Disease or Syndrome
3.

Pulmonary interstitial glycogenosis

Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD, see this term). [from ORDO]

MedGen UID:
798843
Concept ID:
CN201153
Finding
4.

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
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