U.S. flag

An official website of the United States government

We are planning the future of MedGen. Fill out this survey or email us at medgen_help@ncbi.nlm.nih.gov to tell us how it can work better for you.

Search results

Items: 3

1.

Sjögren-Larsson syndrome

Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006). [from OMIM]

MedGen UID:
11443
Concept ID:
C0037231
Disease or Syndrome
2.

Retinitis pigmentosa 73

Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene. [from MONDO]

MedGen UID:
907690
Concept ID:
C4225287
Disease or Syndrome
3.

Macular crystals

Crystalline deposits in the macula. [from HPO]

MedGen UID:
892788
Concept ID:
C4072988
Finding

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
External link. Please review our privacy policy.