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Preferred Name

DEAFNESS, AUTOSOMAL RECESSIVE 67
Synonyms

DFNB67
ID

http://purl.bioontology.org/ontology/OMIM/610265
altLabel

DFNB67
cui

C1853223
Gene Locus

6p21.3
Gene Symbol

LHFPL5

DFNB67

TMHS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU044916

http://purl.bioontology.org/ontology/OMIM/MTHU054561
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

610265
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

DEAFNESS, AUTOSOMAL RECESSIVE 67
Scope Statement

Caused by mutation in the LHFP tetraspan subfamily, member 5 gene (LHFPL5, 609427.0001) [MOLECULAR BASIS]

Prelingual onset [MISCELLANEOUS]
tui

T047
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http://purl.bioontology.org/ontology/MESH/C565207 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C565207 Medical Subject Headings / 医学主题词表 LOOM