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Items: 4

1.

Complete trisomy 21 syndrome

Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21. [from OMIM]

MedGen UID:
4385
Concept ID:
C0013080
Disease or Syndrome
2.

Meier-Gorlin syndrome 7

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene. [from MONDO]

MedGen UID:
934705
Concept ID:
C4310738
Disease or Syndrome
3.

Annular pancreas

A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. [from HPO]

MedGen UID:
56211
Concept ID:
C0149955
Congenital Abnormality
4.

Duodenal stenosis

The narrowing or partial blockage of a portion of the duodenum. [from HPO]

MedGen UID:
66761
Concept ID:
C0238093
Anatomical Abnormality
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