Online Mendelian Inheritance in Man - HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614838 http://purl.bioontology.org/ontology/OMIM/614838
Preferred Name	HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA
Synonyms	HH9
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HH9
prefLabel	HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA
Gene Symbol	HH9 NELF NSMF
Scope Statement	Based on report of 3 unrelated patients, 2 of whom also had mutations in other known hypogonadotropic hypogonadism-associated genes (FGFR1, 136350 or HS6ST1, 604846) [MISCELLANEOUS] Caused by mutation in the NMDA receptor synaptonuclear signaling and neuronal migration factor gene (NSMF, 608137.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006965 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU005254 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU036343 http://purl.bioontology.org/ontology/OMIM/MTHU002380 http://purl.bioontology.org/ontology/OMIM/MTHU057465 http://purl.bioontology.org/ontology/OMIM/MTHU057467 http://purl.bioontology.org/ontology/OMIM/MTHU007248 http://purl.bioontology.org/ontology/OMIM/MTHU057466 http://purl.bioontology.org/ontology/OMIM/MTHU000064 http://purl.bioontology.org/ontology/OMIM/MTHU040494 http://purl.bioontology.org/ontology/OMIM/MTHU057088 See more See less
tui	T047
Gene Locus	9q34.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614838
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3553842
OMIM Entry Type	3
OMIM MimType Value	pound

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