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Items: 8

1.

Adhesion

A fibrous band of tissue that connects normally separate body regions.(NICHD) [from NCI]

MedGen UID:
7891
Concept ID:
C0001511
Pathologic Function
2.

Primary cortisol resistance

MedGen UID:
443921
Concept ID:
C2930863
Disease or Syndrome
3.

Healing scar

A permanent mark left on the skin in the process of wound healing.(NICHD) [from NCI]

MedGen UID:
384469
Concept ID:
C2004491
Pathologic Function
4.

Cirrhosis

MedGen UID:
351476
Concept ID:
C1623038
Disease or Syndrome
5.

Fibrosis

MedGen UID:
5179
Concept ID:
C0016059
Pathologic Function
6.

Scarring

MedGen UID:
3093
Concept ID:
C0008767
Pathologic Function
7.

SDHA NM_004168.3:c.1660C>T

A nucleotide substitution at position 1660 of the coding sequence of the SDHA gene where cytosine has been mutated to thymine. [from NCI]

MedGen UID:
925798
Concept ID:
C4288266
Cell or Molecular Dysfunction
8.

SDHA NP_004159.2:p.R554W

A change in the amino acid sequence at position 544 of the the succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial protein where arginine has been replaced by tryptophan. [from NCI]

MedGen UID:
925797
Concept ID:
C4288265
Cell or Molecular Dysfunction
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