Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 24

1.

Frequency

MedGen UID:
91210
Concept ID:
C0376249
Temporal Concept
2.

Peroxisome Biogenesis Disorder, Complementation Group D

MedGen UID:
400427
Concept ID:
C1863999
Disease or Syndrome
3.

Positive

Involving advantage or good. [from NCI]

MedGen UID:
254858
Concept ID:
C1446409
Finding
4.

Chronic

Slow, creeping onset, slow progress and long continuance of disease manifestations. [from HPO]

MedGen UID:
104657
Concept ID:
C0205191
Temporal Concept
5.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
6.

Immunodeficiency

MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
7.

Chronic granulomatous disease

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
8.

X-linked hereditary disease

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. [from MeSH]

MedGen UID:
222910
Concept ID:
C1138434
Disease or Syndrome
9.

Inborn genetic diseases

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
10.

Phagocyte Bactericidal Dysfunction

Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas. [from MeSH]

MedGen UID:
14713
Concept ID:
C0031306
Disease or Syndrome
11.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
12.

White blood cell disorder

Disordered formation of various types of leukocytes or an abnormal accumulation or deficiency of these cells. [from MeSH]

MedGen UID:
7325
Concept ID:
C0023510
Disease or Syndrome
13.

Hemic and Lymphatic Diseases

Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes. [from MeSH]

MedGen UID:
6780
Concept ID:
C0018981
Disease or Syndrome
14.

Disorder of immune system

A disorder resulting from an abnormality in the immune system. [from NCI]

MedGen UID:
5759
Concept ID:
C0021053
Disease or Syndrome
15.

Disease of blood AND/OR blood-forming organ

A neoplastic or non-neoplastic disorder that affects the production and proliferation of the hematopoietic cells including lymphoid cells, the synthesis of hemoglobin, and/or the mechanisms of coagulation. [from NCI]

MedGen UID:
5483
Concept ID:
C0018939
Disease or Syndrome
16.

Chronic granulomatous disease, X-linked

Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder of phagocytes (neutrophils, monocytes, macrophages, and eosinophils) resulting from impaired killing of bacteria and fungi. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory response resulting in granuloma formation and other inflammatory disorders such as colitis. Infections typically involve the lung (pneumonia), lymph nodes (lymphadenitis), liver (abscess), bone (osteomyelitis), and skin (abscesses or cellulitis); granulomas typically involve the genitourinary system (bladder) and gastrointestinal tract (often the pylorus initially, and later the esophagus, jejunum, ileum, cecum, rectum, and perirectal area). Some males with X-linked CGD have McLeod neuroacanthocytosis syndrome as the result of a contiguous gene deletion. CGD may present any time from infancy to late adulthood; however, the vast majority of affected individuals are diagnosed before age five years. Use of antimicrobial prophylaxis and therapy has greatly improved overall survival. [from OMIM]

MedGen UID:
336165
Concept ID:
C1844376
Disease or Syndrome
17.

Neutrophil immunodeficiency syndrome

MedGen UID:
374920
Concept ID:
C1842398
Disease or Syndrome
18.

Chronic granulomatous disease, X-linked

MedGen UID:
1462211
Concept ID:
CN807006
Disease or Syndrome
19.

Chronic disease absent

MedGen UID:
759750
Concept ID:
C3532637
Finding
20.

Heritable disorder of neutrophil function

MedGen UID:
697582
Concept ID:
C1274235
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center