Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615266 http://purl.bioontology.org/ontology/OMIM/615266
Preferred Name	HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA
Synonyms	HH17
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HH17
prefLabel	HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA
Gene Symbol	SPRY4 HH17
Scope Statement	Caused by mutation in the SPRY domain containing 4 gene (SPRY4, 607984.0001) [MOLECULAR BASIS] Phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in more than 1 neuroendocrine-related gene [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU007831 http://purl.bioontology.org/ontology/OMIM/MTHU022143 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU069473 http://purl.bioontology.org/ontology/OMIM/MTHU040568 http://purl.bioontology.org/ontology/OMIM/MTHU040494 See more See less
tui	T047
Gene Locus	5q31.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615266
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU040569
cui	C3808971
OMIM Entry Type	3
OMIM MimType Value	pound

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