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Metadata
ID DOID:0060703
Name Muenke Syndrome
Definition A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.
https://www.ncbi.nlm.nih.gov/pubmed/18000976, https://www.ncbi.nlm.nih.gov/pubmed/9042914
Xrefs

GARD:7097

MESH:C537369

NCI:C84904

OMIM:602849

ORDO:53271

SNOMEDCT_US_2023_03_01:440350001

UMLS_CUI:C1864436

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

FGFR3-related craniosynostosis [EXACT]

Parent Relationships

is_a craniosynostosis

is_a autosomal dominant disease

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