Online Mendelian Inheritance in Man - HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA
Synonyms	KAL2
ID	http://purl.bioontology.org/ontology/OMIM/147950
altLabel	KAL2 HH2 KALLMANN SYNDROME 2
cui	C1563720
Gene Locus	8p11.2-p11.1
Gene Symbol	FGFR1 OGD FLT2 ECCL HH2 KAL2 HRTFDS
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU045118 http://purl.bioontology.org/ontology/OMIM/MTHU004823 http://purl.bioontology.org/ontology/OMIM/MTHU045121 http://purl.bioontology.org/ontology/OMIM/MTHU045127 http://purl.bioontology.org/ontology/OMIM/MTHU045125 http://purl.bioontology.org/ontology/OMIM/MTHU045115 http://purl.bioontology.org/ontology/OMIM/MTHU045123 http://purl.bioontology.org/ontology/OMIM/MTHU036343 http://purl.bioontology.org/ontology/OMIM/MTHU040540 http://purl.bioontology.org/ontology/OMIM/MTHU042874 http://purl.bioontology.org/ontology/OMIM/MTHU045117 http://purl.bioontology.org/ontology/OMIM/MTHU001112 http://purl.bioontology.org/ontology/OMIM/MTHU045116 http://purl.bioontology.org/ontology/OMIM/MTHU045119 http://purl.bioontology.org/ontology/OMIM/MTHU048580 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU043164 http://purl.bioontology.org/ontology/OMIM/MTHU000064 http://purl.bioontology.org/ontology/OMIM/MTHU045126 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU045124 http://purl.bioontology.org/ontology/OMIM/MTHU045122 http://purl.bioontology.org/ontology/OMIM/MTHU045120 http://purl.bioontology.org/ontology/OMIM/MTHU036761 http://purl.bioontology.org/ontology/OMIM/MTHU040500 http://purl.bioontology.org/ontology/OMIM/MTHU035316 http://purl.bioontology.org/ontology/OMIM/MTHU040494
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	147950
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/DOID_0090083	Human Disease Ontology 123	LOOM
	http://purl.bioontology.org/ontology/MESH/D017436	Medical Subject Headings	CUI