OBO ID: DOID:0111638
Term Name: autosomal recessive nonsyndromic deafness 100 Search Ontology:
Synonyms:
  • autosomal recessive deafness 100
  • DFNB100
Definition: An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. https://www.ncbi.nlm.nih.gov/pubmed/29590114
References:
Ontology: Human Disease   ( DOID:0111638 )
Relationships
is a type of:
OTHER autosomal recessive nonsyndromic deafness 100 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PPIP5K2 Deafness, autosomal recessive 100 618422
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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