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Items: 9

1.

Non-articulated Supernumerary Rib

An additional rib-like structure usually between two other ribs, not articulated with the vertebral column. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) [from NCI]

MedGen UID:
1804532
Concept ID:
C5670393
Congenital Abnormality
2.

Short supernumerary rib

An extra rib at the cervicothoracic border with the distal extremity rounded, length less than one third of the length of the ossified portion of the first thoracic rib and no costal cartilage distal. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.) [from NCI]

MedGen UID:
672574
Concept ID:
C0685629
Congenital Abnormality
3.

CSF1R NP_005202.2:p.H362R

A change in the amino acid residue at position 362 in the macrophage colony-stimulating factor 1 receptor protein where histidine has been replaced by arginine. [from NCI]

MedGen UID:
1709198
Concept ID:
C5236109
Cell or Molecular Dysfunction
4.

CSF1R NP_005202.2:p.N648S

A change in the amino acid residue at position 648 in the macrophage colony-stimulating factor 1 receptor protein where asparagine has been replaced by serine. [from NCI]

MedGen UID:
1709606
Concept ID:
C5236110
Cell or Molecular Dysfunction
5.

MRAS Gene Mutation

A change in the nucleotide sequence of the MRAS gene. [from NCI]

MedGen UID:
1793066
Concept ID:
C5556625
Cell or Molecular Dysfunction
6.

CSF1R Gene Mutation

A change in the nucleotide sequence of the CSF1R gene. [from NCI]

MedGen UID:
1624221
Concept ID:
C4524819
Cell or Molecular Dysfunction
7.

CSF1R Protein Variant

A variation in the amino acid sequence for the macrophage colony-stimulating factor 1 receptor protein. [from NCI]

MedGen UID:
1713488
Concept ID:
C5236107
Cell or Molecular Dysfunction
8.

CSF1R NM_005211.3:c.1085A>G

A nucleotide substitution at position 1085 of the coding sequence of the CSF1R gene where adenine has been mutated to guanine. [from NCI]

MedGen UID:
1718362
Concept ID:
C5236108
Cell or Molecular Dysfunction
9.

CSF1R Gene Amplification

A molecular genetic abnormality indicating the presence of multiple copies of the CSF1R gene. [from NCI]

MedGen UID:
1793061
Concept ID:
C5556620
Cell or Molecular Dysfunction
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