hypogonadotropic hypogonadism 7 with or without anosmia ingelesa (Q30989134)
Nabigaziora joan
Bilaketara joan
A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. ingelesa
Hizkuntza | Etiketa | Deskribapena | Goitizenak |
---|---|---|---|
euskara | Ez da etiketarik zehaztu |
Ez da deskribapenik zehaztu |
|
ingelesa | hypogonadotropic hypogonadism 7 with or without anosmia |
A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. |
|
Adierazpenak
hypogonadotropic hypogonadism ingelesa
Erreferentzia bat
Erreferentzia bat
28 uztaila 2018
Mondo ID ingelesa
Erreferentzia bat
28 uztaila 2018
Mondo ID ingelesa
Erreferentzia bat
28 uztaila 2018
Mondo ID ingelesa
Erreferentzia bat
autosomal recessive disease ingelesa
Erreferentzia bat
Erreferentzia bat
2 urria 2018
genetic association ingelesa
Erreferentzia bat
Identifikatzaileak
Disease Ontology ID ingelesa
Erreferentzia bat
2 erreferentzia
28 uztaila 2018
Mondo ID ingelesa
Mondo ID ingelesa
OMIM ID ingelesa
Erreferentzia bat
UMLS CUI ingelesa
mapping relation type ingelesa
close match ingelesa
Erreferentzia bat
28 uztaila 2018
Mondo ID ingelesa
mapping relation type ingelesa
close match ingelesa
Erreferentzia bat
28 uztaila 2018
Mondo ID ingelesa
UniProt disease ID ingelesa