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General Information
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| Term |
Leydig cell hypoplasia type I |
ID (Ontology) |
DOID:0112260 (Human Disease) |
| Definition |
A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3. |
| Also Known As |
"46,XY disorder of sex development due to complete LH receptor inactivation" ; "46,XY disorder of sex development due to complete LH resistance" ; "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation" (for all, see Synonyms field below) |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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Leydig cell hypoplasia type I | 1 | for disease ribbon | Leydig cell hypoplasia type I | 1 | model of | Leydig cell hypoplasia type I | 1 |
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Relationships