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Metadata
ID DOID:14768
Name Saethre-Chotzen syndrome
Definition An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
http://children.webmd.com/saethre-chotzen-syndrome, http://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome, http://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome, http://www.healthline.com/galecontent/saethre-chotzen-syndrome, https://www.faces-cranio.org/saethre-chotzen
Xrefs

GARD:7598

MESH:D000168

NCI:C75034

OMIM:101400

OMIM:180750

ORDO:794

SNOMEDCT_US_2023_03_01:390726000

UMLS_CUI:C0175699

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

acrocephalosyndactyly type III [RELATED]

Parent Relationships

is_a acrocephalosyndactylia

is_a autosomal dominant disease

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