autosomal recessive nonsyndromic deafness 53

autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the COL11A2 gene on chromosome 6p21
rdfs:label "autosomal recessive nonsyndromic deafness 53"@en
skos:altLabel "DEAFNESS, AUTOSOMAL RECESSIVE 53"@en
"DEAFNESS, AUTOSOMAL RECESSIVE 53; DFNB53"@en
"DFNB53"@en
"Deafness, Autosomal Recessive type 53"@en
"autosomal recessive deafness 53"@en
"autosomal recessive nonsyndromic deafness type 53"@en
schema:description
"autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the COL11A2 gene on chromosome 6p21"@en
schema:dateModified "2026-07-05T12:33:56+00:00"^^xsd:dateTime
schema:version 2514121658
wikibase:identifiers 7
wikibase:sitelinks 0
wikibase:statements 15
p:P11430 wd:statement/Q28024636-86245bd1-45a6-aafc-ec0f-044a36384034
p:P2293 wd:statement/Q28024636-B940353F-0C60-4E9B-B971-A64BE0ECC591
p:P279 wd:statement/Q28024636-19434BD6-22FE-4A29-B27D-9C5FBD5517C6
wd:statement/Q28024636-EBF99060-88D5-4FFF-9F20-B7141DA6E8FC
p:P2888 wd:statement/Q28024636-1A5C08AA-6702-4F2E-8EEB-A900E60F58AE
wd:statement/Q28024636-82E7AF6F-B2B6-426C-9421-26FBB3E5E7AB
p:P2892 wd:statement/Q28024636-C72426D2-9606-4FB2-A57D-C9D95FA10C20
p:P31 wd:statement/Q28024636-3320B462-3F00-461B-BBD6-FAF4506E02FB
wd:statement/Q28024636-9A6D2D3F-048C-470B-AC00-FECA65213324
p:P4229 wd:statement/Q28024636-A8252B9E-79C3-41A8-90C4-43A68709C1D7
p:P486 wd:statement/Q28024636-BD5EA989-B1CF-45AA-AF3F-1BE97BA08AD4
p:P492 wd:statement/Q28024636-8A9042FC-38F8-4D46-908A-5C6641176AE6
p:P5008 wd:statement/Q28024636-C08AAAF8-8525-40D4-990A-21EC0765979D
p:P5270 wd:statement/Q28024636-D43B51DF-E417-4038-830A-B417D90CA847
p:P699 wd:statement/Q28024636-7341B5D1-D227-4C4B-9537-DEE8D21231CF
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C566453>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0012333>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0110509>
wdt:P11430 "DI-00876"
wdt:P2293 COL11A2
wdt:P279 autosomal recessive nonsyndromic deafness
wdt:P2888 <http://identifiers.org/doid/DOID:0110509>
<http://purl.obolibrary.org/obo/DOID_0110509>
wdt:P2892 "C1864746"
wdt:P31 type of disease
rare disease
wdt:P4229 "H90.3"
wdt:P486 "C566453"
wdt:P492 "609706"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0012333"
wdt:P699 "DOID:0110509"
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