OBO ID: DOID:0080787
Term Name: proximal symphalangism 1 Search Ontology:
Synonyms:
Definition: A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. https://pubmed.ncbi.nlm.nih.gov/16353259/
References:
Ontology: Human Disease   ( DOID:0080787 )
Relationships
is a type of:
OTHER proximal symphalangism 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NOG Symphalangism, proximal, 1A 185800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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