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Metadata
ID DOID:0081021
Name Tukel syndrome
Definition A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left.
https://pubmed.ncbi.nlm.nih.gov/15863670/
Xrefs

GARD:9814

MESH:C536925

MIM:609428

Subsets

DO_rare_slim

Synonyms

congenital fibrosis of the extraocular muscles 4 [EXACT]

Parent Relationships

is_a congenital fibrosis of the extraocular muscles

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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