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Metadata
ID DOID:14705
Name Pfeiffer syndrome
Definition An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
http://en.wikipedia.org/wiki/Pfeiffer_syndrome, http://ghr.nlm.nih.gov/condition/pfeiffer-syndrome, http://www.healthline.com/galecontent/pfeiffer-syndrome, https://www.faces-cranio.org/pfeiffer
Xrefs

GARD:7380

MESH:D000168

NCI:C99100

OMIM:101600

ORDO:710

SNOMEDCT_US_2023_03_01:70410008

UMLS_CUI:C0220658

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

acrocephalosyndactylia type V [EXACT]

Parent Relationships

is_a acrocephalosyndactylia

is_a autosomal dominant disease

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