Preferred Name |
hypogonadotropic hypogonadism 2 with or without anosmia |
Definitions |
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. |
ID |
http://purl.obolibrary.org/obo/DOID_0090083 |
database_cross_reference |
OMIM:147950 ICD10CM:E23.0 |
definition |
A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. |
has material basis in | |
has_obo_namespace |
disease_ontology |
id |
DOID:0090083 |
label |
hypogonadotropic hypogonadism 2 with or without anosmia |
notation |
DOID:0090083 |
prefLabel |
hypogonadotropic hypogonadism 2 with or without anosmia |
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/OMIM/147950 | Online Mendelian Inheritance in Man | LOOM |