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Results: 8

1.

Polykaryocytosis inducer

MedGen UID:
429813
Concept ID:
CN034562
Disease or Syndrome
2.

Error occurred: cannot get document summary

ID:
401370

3.

Torsion

MedGen UID:
689818
Concept ID:
C1265748
Pathologic Function
4.

Xeroderma pigmentosum, complementation group b

Xeroderma pigmentosum (XP) is characterized by: Sun sensitivity (severe sunburn with blistering, persistent erythema on minimal sun exposure in ~60% of affected individuals, and marked freckle-like pigmentation of the face before age 2 years in most affected individuals); Ocular involvement (photophobia, keratitis, atrophy of the skin of the lids); and Greatly increased risk of cutaneous neoplasms (basal cell carcinoma, squamous cell carcinoma, melanoma). Approximately 25% of affected individuals have neurologic manifestations (acquired microcephaly, diminished or absent deep tendon stretch reflexes, progressive sensorineural hearing loss, and progressive cognitive impairment). The most common causes of death are skin cancer, neurologic degeneration, and internal cancer. The median age at death in persons with XP with neurodegeneration (29 years) was found to be younger than that in persons with XP without neurodegeneration (37 years). [from GeneReviews]

MedGen UID:
373493
Concept ID:
C1970808
Disease or Syndrome
5.

MedGen UID:
109303
Concept ID:
C0596988
6.

Recruitment

MedGen UID:
78772
Concept ID:
C0271510
Disease or Syndrome
7.

Xeroderma pigmentosum, group B

MedGen UID:
78643
Concept ID:
C0268136
Disease or Syndrome
8.

Protein binding

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments. [from MeSH]

MedGen UID:
18704
Concept ID:
C0033618
Molecular Function

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