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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/607903
http://purl.bioontology.org/ontology/OMIM/607903
Preferred Name

HYPOTRICHOSIS 6
Synonyms
LAH1
HYPT6
LAH
MONILETHRIX-LIKE HYPOTRICHOSIS
HTL
HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE
HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 1
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
LAH1
HYPT6
LAH
MONILETHRIX-LIKE HYPOTRICHOSIS
HTL
HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE
HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 1
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prefLabel
HYPOTRICHOSIS 6
Gene Symbol
DSG4
HYPT6
LAH
notation
607903
Scope Statement
Inter- and intrafamilial variability [MISCELLANEOUS]
Caused by mutation in the desmoglein 4 gene (DSG4, 607892.0001) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
Moved from
252200
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU033627
http://purl.bioontology.org/ontology/OMIM/MTHU033626
http://purl.bioontology.org/ontology/OMIM/MTHU033629
http://purl.bioontology.org/ontology/OMIM/MTHU033621
http://purl.bioontology.org/ontology/OMIM/MTHU033619
http://purl.bioontology.org/ontology/OMIM/MTHU033620
http://purl.bioontology.org/ontology/OMIM/MTHU033625
http://purl.bioontology.org/ontology/OMIM/MTHU033616
http://purl.bioontology.org/ontology/OMIM/MTHU049576
http://purl.bioontology.org/ontology/OMIM/MTHU033628
http://purl.bioontology.org/ontology/OMIM/MTHU033618
http://purl.bioontology.org/ontology/OMIM/MTHU076691
http://purl.bioontology.org/ontology/OMIM/MTHU005951
http://purl.bioontology.org/ontology/OMIM/MTHU033617
http://purl.bioontology.org/ontology/OMIM/MTHU068606
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
18q12
tui
T047
cui
C1842839
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