Search Ontology:
Human Disease
hypogonadotropic hypogonadism 5 with or without anosmia
- Term ID
- DOID:0090084
- Synonyms
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- Definition
- A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12. https://www.ncbi.nlm.nih.gov/pubmed/18834967
- References
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- ICD10CM:E23.0
- MIM:612370
- Ontology
- Human Disease ( DOID:0090084 )
- is a type of
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