Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/614837
http://purl.bioontology.org/ontology/OMIM/614837
Preferred Name

HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
Synonyms
HH8
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
HH8
prefLabel
HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA
Gene Symbol
HH8
CPPB1
KISS1R
GPR54
Scope Statement
Variable expressivity within a family [MISCELLANEOUS]
Caused by mutation in the KISS1 receptor gene (KISS1R, 604161.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU046596
http://purl.bioontology.org/ontology/OMIM/MTHU000031
http://purl.bioontology.org/ontology/OMIM/MTHU001789
http://purl.bioontology.org/ontology/OMIM/MTHU046593
http://purl.bioontology.org/ontology/OMIM/MTHU046590
http://purl.bioontology.org/ontology/OMIM/MTHU045120
http://purl.bioontology.org/ontology/OMIM/MTHU037275
http://purl.bioontology.org/ontology/OMIM/MTHU000818
http://purl.bioontology.org/ontology/OMIM/MTHU046591
http://purl.bioontology.org/ontology/OMIM/MTHU046595
http://purl.bioontology.org/ontology/OMIM/MTHU046592
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU037486
http://purl.bioontology.org/ontology/OMIM/MTHU007248
http://purl.bioontology.org/ontology/OMIM/MTHU000064
http://purl.bioontology.org/ontology/OMIM/MTHU040500
http://purl.bioontology.org/ontology/OMIM/MTHU040494
http://purl.bioontology.org/ontology/OMIM/MTHU036761
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tui
T047
Gene Locus
19p13.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
614837
Semantic type UMLS property
Has inheritance type
cui
C3553841
OMIM Entry Type
3
OMIM MimType Value
pound
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