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Metadata
ID DOID:0081075
Name Marsili syndrome
Definition A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11.
https://pubmed.ncbi.nlm.nih.gov/29253101/
Xrefs

MIM:147430

Synonyms

congenital analgesia [EXACT]

congenital insensitivity to pain [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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