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Items: 3

1.

Aortic aneurysm, familial thoracic 4

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene. [from MONDO]

MedGen UID:
338704
Concept ID:
C1851504
Disease or Syndrome
2.

Ermine phenotype

A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging. [from ORDO]

MedGen UID:
346466
Concept ID:
C1856899
Disease or Syndrome
3.

Abnormal iris pigmentation

Abnormal pigmentation of the iris. [from HPO]

MedGen UID:
331733
Concept ID:
C1834387
Finding
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