HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA
ANOSMIC HYPOGONADISM
http://purl.bioontology.org/ontology/OMIM/308700
DYSPLASIA OLFACTOGENITALIS OF DE MORSIER
HHA
HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA
KMS
KALLMANN SYNDROME 1
HH1
KAL1
C0162809
C1563719
Xp22.31
ANOS1
ADMLX
http://purl.bioontology.org/ontology/OMIM/MTHU007248
http://purl.bioontology.org/ontology/OMIM/MTHU004823
http://purl.bioontology.org/ontology/OMIM/MTHU068161
http://purl.bioontology.org/ontology/OMIM/MTHU067279
http://purl.bioontology.org/ontology/OMIM/MTHU057089
http://purl.bioontology.org/ontology/OMIM/MTHU057087
http://purl.bioontology.org/ontology/OMIM/MTHU057085
http://purl.bioontology.org/ontology/OMIM/MTHU048866
http://purl.bioontology.org/ontology/OMIM/MTHU037275
http://purl.bioontology.org/ontology/OMIM/MTHU046373
http://purl.bioontology.org/ontology/OMIM/MTHU068162
http://purl.bioontology.org/ontology/OMIM/MTHU000064
http://purl.bioontology.org/ontology/OMIM/MTHU000574
http://purl.bioontology.org/ontology/OMIM/MTHU057088
http://purl.bioontology.org/ontology/OMIM/MTHU057086
http://purl.bioontology.org/ontology/OMIM/MTHU057084
http://purl.bioontology.org/ontology/OMIM/MTHU057094
Phenotype description, molecular basis known.
308700
3
pound
Caused by mutation in the KAL1 gene gene (KAL1, 300836.0001) [MOLECULAR BASIS]
Heterozygous females may be susceptible to functional hypothalamic amenorrhea [MISCELLANEOUS]
T047