U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from ClinVar

Items: 3

1.

not provided

The term 'not provided' is registered in MedGen to support identification of submissions to ClinVar for which no condition was named when assessing the variant. 'not provided' differs from 'not specified', which is used when a variant is asserted to be benign, likely benign, or of uncertain significance for conditions that have not been specified. [from NCBI]

MedGen UID:
783055
Concept ID:
C3661900
Qualitative Concept
2.

Schinzel-Giedion syndrome

Schinzel-Giedion syndrome is a highly recognizable syndrome characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia (summary by Hoischen et al., 2010). [from OMIM]

MedGen UID:
120517
Concept ID:
C0265227
Disease or Syndrome
3.

Chronic myelogenous leukemia, BCR-ABL1 positive

A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. [from HPO]

MedGen UID:
75993
Concept ID:
C0279543
Neoplastic Process
Format

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...