KALLMANN SYNDROME 2

KAL2

HH2

http://purl.bioontology.org/ontology/OMIM/147950

KALLMANN SYNDROME 2

KAL2

HH2

C1563720

8p11.2-p11.1

FGFR1

FLT2

HH2

HRTFDS

ECCL

OGD

KAL2

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU045115

http://purl.bioontology.org/ontology/OMIM/MTHU067225

http://purl.bioontology.org/ontology/OMIM/MTHU036446

http://purl.bioontology.org/ontology/OMIM/MTHU000031

http://purl.bioontology.org/ontology/OMIM/MTHU012138

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU067224

http://purl.bioontology.org/ontology/OMIM/MTHU036343

http://purl.bioontology.org/ontology/OMIM/MTHU040568

http://purl.bioontology.org/ontology/OMIM/MTHU045117

http://purl.bioontology.org/ontology/OMIM/MTHU045120

http://purl.bioontology.org/ontology/OMIM/MTHU057951

http://purl.bioontology.org/ontology/OMIM/MTHU004842

http://purl.bioontology.org/ontology/OMIM/MTHU067226

http://purl.bioontology.org/ontology/OMIM/MTHU045116

http://purl.bioontology.org/ontology/OMIM/MTHU067227

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU000064

http://purl.bioontology.org/ontology/OMIM/MTHU040500

http://purl.bioontology.org/ontology/OMIM/MTHU004823

http://purl.bioontology.org/ontology/OMIM/MTHU040494

http://purl.bioontology.org/ontology/OMIM/MTHU036761

Phenotype description, molecular basis known.

147950

3

pound

HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

Phenotype may be oligogenic in some patients who carry mutations in more than one HH-associated gene [MISCELLANEOUS]

Some patients experience later reversal of hypogonadotropic hypogonadism [MISCELLANEOUS]

Caused by mutation in the fibroblast growth factor receptor-1 gene (FGFR1, 136350.0002) [MOLECULAR BASIS]

Incomplete penetrance [MISCELLANEOUS]

T047