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Human Health Exposure Analysis Resource
| Preferred Name | Leydig cell hypoplasia type I | |
| Synonyms |
46,XY DSD due to complete LH resistance 46,XY disorder of sex development due to complete luteinizing hormone resistance 46,XY DSD due to complete luteinizing hormone resistance Leydig cell hypoplasia due to complete LH receptor inactivation 46,XY DSD due to complete luteinizing hormone receptor inactivation 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone resistance 46,XY disorder of sex development due to complete LH receptor inactivation 46,XY DSD due to complete LH receptor inactivation 46,XY disorder of sex development due to complete LH resistance Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation |
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| 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 the LHCGR gene on chromosome 2p16.3. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0112260 |
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| alternative label |
46,XY DSD due to complete LH resistance 46,XY disorder of sex development due to complete luteinizing hormone resistance 46,XY DSD due to complete luteinizing hormone resistance Leydig cell hypoplasia due to complete LH receptor inactivation 46,XY DSD due to complete luteinizing hormone receptor inactivation 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone resistance 46,XY disorder of sex development due to complete LH receptor inactivation 46,XY DSD due to complete LH receptor inactivation 46,XY disorder of sex development due to complete LH resistance Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation
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| database_cross_reference |
MIM:238320 ORDO:96265
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| 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.
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| has exact synonym |
46,XY DSD due to complete LH resistance 46,XY disorder of sex development due to complete luteinizing hormone resistance 46,XY DSD due to complete luteinizing hormone resistance Leydig cell hypoplasia due to complete LH receptor inactivation 46,XY DSD due to complete luteinizing hormone receptor inactivation 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation Leydig cell hypoplasia due to complete luteinizing hormone resistance 46,XY disorder of sex development due to complete LH receptor inactivation 46,XY DSD due to complete LH receptor inactivation 46,XY disorder of sex development due to complete LH resistance Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation
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| has material basis in | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:0112260
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| in_subset | ||
| label |
Leydig cell hypoplasia type I
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| notation |
DOID:0112260
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| note |
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.
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| preferred label |
Leydig cell hypoplasia type I
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| prefLabel |
Leydig cell hypoplasia type I
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| subClassOf |
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