Disease #00651 (HH2;KAL2 (hypogonadism, hypogonadotropic, type 2 with/without anosmia (HH2)), OMIM:147950)

Official abbreviation HH2;KAL2
Name hypogonadism, hypogonadotropic, type 2 with/without anosmia (HH2)
OMIM ID 147950
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 6
Phenotype entries for this disease 5
Associated with 1 gene FGFR1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2023-11-26 11:52:08 +01:00 (CET)


Individuals

6 entries on 1 page. Showing entries 1 - 6.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00037765 - - - M - Belgium European - - - - HH2;KAL2 - FGFR1 FGFR1 1 1 Cecile Libioulle
00094957 - - - M - Japan - - - - - HH2;KAL2 - FGFR1 FGFR1 1 1 Kohnosuke Ohtaka
00095072 - - - M - Japan Japanese - - - - HH2;KAL2 Split hand foot malformation Hypogonadotripic hypogonadism FGFR1 FGFR1 1 1 Kohnosuke Ohtaka
00095073 - - - F - Japan Japanese - - - - HH2;KAL2 Split hand hoot malformation Hypogonadtropic hypogonadism FGFR1 FGFR1 1 1 Kohnosuke Ohtaka
00095074 - - - M ? Japan Japanese - - - - HH2;KAL2 Split hand foot malformation Hypogonadotropic hypogonadism - FGFR1 1 1 Kohnosuke Ohtaka
00324285 - - - - - - - - - - - HH2;KAL2 - FGFR1 FGFR1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.