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    Disease Ontology Term: Leydig cell hypoplasia type I


    DO ID
    DOID:0112260
    Description
    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.
    Synonyms
    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, 46,XY disorder of sex development due to complete luteinizing hormone resistance, 46,XY DSD due to complete LH receptor inactivation, 46,XY DSD due to complete LH resistance, 46,XY DSD due to complete luteinizing hormone receptor inactivation, 46,XY DSD due to complete luteinizing hormone resistance, Leydig cell hypoplasia due to complete LH receptor inactivation, Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation, Leydig cell hypoplasia due to complete luteinizing hormone resistance
    View DO Annotations for yeast and other model organisms at the Alliance of Genome Resources

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