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Items: 6

1.

Primary cortisol resistance

MedGen UID:
443921
Concept ID:
C2930863
Disease or Syndrome
2.

Thoracomelic dysplasia

MedGen UID:
336441
Concept ID:
C1848863
Disease or Syndrome
3.

Familial dysautonomia

Familial dysautonomia (FD) affects the development and survival of sensory, sympathetic, and parasympathetic neurons. It is a debilitating disease present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, vomiting crises, recurrent pneumonia, altered sensitivity to pain and temperature perception, and cardiovascular instability. About 40% of individuals have autonomic crises. Hypotonia contributes to delay in acquisition of motor milestones. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Life expectancy is decreased. [from GeneReviews]

MedGen UID:
41678
Concept ID:
C0013364
Congenital Abnormality; Disease or Syndrome
4.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
5.

Neoplasm of the respiratory system

A tumor (abnormal growth of tissue) of the respiratory system. [from HPO]

MedGen UID:
11200
Concept ID:
C0035244
Neoplastic Process
6.

Neoplasm of the larynx

A benign or malignant neoplasm involving the larynx. [from NCI]

MedGen UID:
7271
Concept ID:
C0023055
Neoplastic Process
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