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Metadata
ID DOID:0050788
Name proximal symphalangism
Definition A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.
https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-019-0864-1
Xrefs

GARD:8182

KEGG:H00484

MIM:PS185800

ORDO:3250

Subsets

DO_rare_slim

Synonyms

Cushing's symphalangism [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a syndrome

is_a bone disease

Subclass Logical Relationships

disease has location some bone element

has material basis in some autosomal dominant inheritance

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