U.S. flag

An official website of the United States government

Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 45

1.

Atrophy

Any weakening or degeneration, especially through lack of use. [from NCI]

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
2.

Not genetically inherited

clinical entity without genetic inheritance. [from ORDO]

MedGen UID:
988794
Concept ID:
CN307044
Finding
3.

Unaffected

This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded. [from HPO]

MedGen UID:
458643
Concept ID:
C2986417
Conceptual Entity
4.

Mitochondrial inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). [from HPO]

MedGen UID:
165802
Concept ID:
C0887941
Genetic Function
5.

Chronic obstructive pulmonary disease

Chronic obstructive pulmonary disease (COPD) is a common, complex disorder associated with substantial morbidity and mortality. COPD is defined by irreversible airflow obstruction due to chronic bronchitis, emphysema, and/or small airways disease. Airflow obstruction is typically determined by reductions in quantitative spirometric indices, including forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (FVC) (Silverman et al., 2002; Celedon et al., 2004). [from OMIM]

MedGen UID:
9818
Concept ID:
C0024117
Disease or Syndrome
6.

Qualitative or quantitative defects of alphaB-cristallin

MedGen UID:
1843314
Concept ID:
C5680838
Disease or Syndrome
7.

Qualitative or quantitative defects of TRIM32

MedGen UID:
1843261
Concept ID:
C5680829
Disease or Syndrome
8.

Qualitative or quantitative defects of emerin

MedGen UID:
1843252
Concept ID:
C5680833
Disease or Syndrome
9.

Qualitative or quantitative defects of titin

MedGen UID:
1843244
Concept ID:
C5680843
Disease or Syndrome
10.

Qualitative or quantitative defects of collagen 6

MedGen UID:
1843154
Concept ID:
C5680804
Disease or Syndrome
11.

Qualitative or quantitative defects of troponin

MedGen UID:
1843141
Concept ID:
C5681011
Disease or Syndrome
12.

Qualitative or quantitative defects of protein SERCA1

MedGen UID:
1843114
Concept ID:
C5680836
Disease or Syndrome
13.

Qualitative or quantitative defects of myotubularin

MedGen UID:
1843092
Concept ID:
C5680828
Disease or Syndrome
14.

Qualitative or quantitative defects of filamin C

MedGen UID:
1843024
Concept ID:
C5680841
Disease or Syndrome
15.

Qualitative or quantitative defects of fukutin

MedGen UID:
1843022
Concept ID:
C5681836
Disease or Syndrome
16.

Qualitative or quantitative defects of tropomyosin

MedGen UID:
1842978
Concept ID:
C5681012
Disease or Syndrome
17.

Qualitative or quantitative defects of desmin

MedGen UID:
1842905
Concept ID:
C5680839
Disease or Syndrome
18.

Qualitative or quantitative defects of integrin alpha-7

MedGen UID:
1842873
Concept ID:
C5679789
Disease or Syndrome
19.

Qualitative or quantitative defects of protein O-mannosyltransferase 2

MedGen UID:
1842845
Concept ID:
C5680852
Disease or Syndrome
20.

Qualitative or quantitative defects of Torsin-1A-interacting protein 1

MedGen UID:
1842802
Concept ID:
C5681207
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

  • MedGen for PubMed (Select 38367663) (60)
    MedGen
  • Catecholamine Plasma Membrane Transport Proteins
    Catecholamine Plasma Membrane Transport Proteins
    A group of membrane transport proteins that transport biogenic amine derivatives of catechol across the PLASMA MEMBRANE. Catecholamine plasma membrane transporter proteins reg...<br/>Year introduced: 2006(1980)
    MeSH
  • Membrane Proteins
    Membrane Proteins
    Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-a...<br/>Year introduced: 1977
    MeSH
  • 10030[GO] AND (alive[prop]) (177)
    Gene
  • Plasma Membrane Neurotransmitter Transport Proteins
    Plasma Membrane Neurotransmitter Transport Proteins
    A family of neurotransmitter transporter proteins that facilitate NEUROTRANSMITTER reuptake into PRESYNAPTIC TERMINALS. They may play a role in regulating the intensity and du...<br/>Year introduced: 2006
    MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
-