Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/610628
http://purl.bioontology.org/ontology/OMIM/610628
Preferred Name

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
Synonyms
HH4
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
HH4
prefLabel
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
Gene Symbol
PROK2
BV8
PK2
HH4
Scope Statement
Phenotype may be oligogenic in some patients who carry mutations in more than one HH-associated gene [MISCELLANEOUS]
Caused by mutation in the prokineticin-2 gene (PROK2, 607002.0001) [MOLECULAR BASIS]
Incomplete penetrance [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU045115
http://purl.bioontology.org/ontology/OMIM/MTHU036798
http://purl.bioontology.org/ontology/OMIM/MTHU040568
http://purl.bioontology.org/ontology/OMIM/MTHU045117
http://purl.bioontology.org/ontology/OMIM/MTHU002380
http://purl.bioontology.org/ontology/OMIM/MTHU045116
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU045457
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/MTHU000250
http://purl.bioontology.org/ontology/OMIM/MTHU037343
http://purl.bioontology.org/ontology/OMIM/MTHU004823
http://purl.bioontology.org/ontology/OMIM/MTHU040494
http://purl.bioontology.org/ontology/OMIM/MTHU000242
http://purl.bioontology.org/ontology/OMIM/MTHU036761
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tui
T047
Gene Locus
3p21.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
610628
Semantic type UMLS property
Has inheritance type
cui
C3552343
OMIM Entry Type
3
OMIM MimType Value
pound
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