U.S. flag

An official website of the United States government


Send to:

Choose Destination

Autosomal chromosomal disorder

MedGen UID:
Concept ID:
Congenital Abnormality; Disease or Syndrome
Synonyms: Autosomal Chromosome Disorder; Autosomal Chromosome Disorders; Chromosome Disorder, Autosomal; Chromosome Disorders, Autosomal
SNOMED CT: Autosomal chromosomal disorder (403759001)
Related gene: GATA1

Recent clinical studies


Nowakowska A, Sylwestrzak O, Strzelecka I, Oszukowski P, Responek-Liberska M, Zalinska A
Ginekol Pol 2023;94(5):366-373. Epub 2023 Apr 18 doi: 10.5603/GP.a2023.0035. PMID: 37070966
Silva C, Ferreira MC, Saraiva J, Cancelinha C
Eur J Pediatr 2022 Jul;181(7):2809-2819. Epub 2022 May 6 doi: 10.1007/s00431-022-04477-w. PMID: 35522316
Subramaniam P, Girish Babu K, Mohan Das L
Spec Care Dentist 2014 Jul-Aug;34(4):193-200. Epub 2013 Nov 4 doi: 10.1111/scd.12054. PMID: 24188359
Catalán JA, Rodríguez FA, Yubero MJ, Palisson F, Gana MJ, Krämer SM, Repetto GM
Int J Dermatol 2012 Sep;51(9):1078-81. doi: 10.1111/j.1365-4632.2011.05428.x. PMID: 22909362

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...