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FNS-Harmony
Last uploaded:
November 2, 2023
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| Id | http://purl.obolibrary.org/obo/DOID_0112260
http://purl.obolibrary.org/obo/DOID_0112260
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| Preferred Name | Leydig cell hypoplasia type I |
| Definitions |
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 LHCGR on chromosome 2p16.3.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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 LHCGR on chromosome 2p16.3. |
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| label |
Leydig cell hypoplasia type I
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| prefLabel |
Leydig cell hypoplasia type I
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| prefixIRI |
DOID:0112260
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| subClassOf | |
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| type |
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