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Items: 3

1.

Ablepharon macrostomia syndrome

Ablepharon-macrostomia syndrome (AMS) is a congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth (summary by Marchegiani et al., 2015). [from OMIM]

MedGen UID:
395439
Concept ID:
C1860224
Disease or Syndrome
2.

Allergy

An allergy is an immune response or reaction to substances that are usually not harmful. [from HPO]

MedGen UID:
9370
Concept ID:
C0020517
Pathologic Function
3.

Asthma

Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. [from HPO]

MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
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