Preferred Name | partial androgen insensitivity syndrome | |
Synonyms |
androgen resistance syndrome, partial incomplete male pseudohermaphroditism type I familial incomplete male pseudohermaphroditism androgen insensitivity syndrome, partial pseudohermaphroditism, incomplete male, type I PAIS androgen insensitivity, partial partial androgen resistance syndrome Reifenstein syndrome, partial Reifenstein syndrome pais androgen insensitivity, partial, with or without breast cancer, X-linked recessive androgen insensitivity, partial, with or without breast cancer familial incomplete Male pseudohermaphroditism, type 1 |
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Definitions |
Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0010720 |
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altLabel |
androgen resistance syndrome, partial incomplete male pseudohermaphroditism type I familial incomplete male pseudohermaphroditism androgen insensitivity syndrome, partial pseudohermaphroditism, incomplete male, type I PAIS androgen insensitivity, partial partial androgen resistance syndrome Reifenstein syndrome, partial Reifenstein syndrome pais androgen insensitivity, partial, with or without breast cancer, X-linked recessive androgen insensitivity, partial, with or without breast cancer familial incomplete Male pseudohermaphroditism, type 1 |
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definition |
Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. |
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has_exact_synonym |
pseudohermaphroditism, incomplete male, type I PAIS androgen insensitivity, partial partial androgen resistance syndrome Reifenstein syndrome, partial Reifenstein syndrome pais androgen insensitivity, partial, with or without breast cancer, X-linked recessive androgen insensitivity, partial, with or without breast cancer familial incomplete Male pseudohermaphroditism, type 1 |
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has_related_synonym |
androgen resistance syndrome, partial incomplete male pseudohermaphroditism type I familial incomplete male pseudohermaphroditism androgen insensitivity syndrome, partial |
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IAO_0000233 | ||
label |
partial androgen insensitivity syndrome |
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prefixIRI |
MONDO:0010720 |
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prefLabel |
partial androgen insensitivity syndrome |
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seeAlso |
https://rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome |
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textual definition |
Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. |
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subClassOf |