Androgen insensitivity, partial

Preferred Label : Androgen insensitivity, partial;

Symbol : PAIS;

CISMeF acronym : PAIS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Familial incomplete male pseudohermaphroditism, type 1; Reifenstein syndrome; Androgen insensitivity, partial, with or without breast cancer;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the androgen receptor gene (AR, 313700.0008);

Laboratory abnormalities : Normal 46,XY karyotype; Oligospermia or azoospermia;

Prefixed ID : #312300;

Détails

Origin ID

312300;

UMLS CUI

C0268301;

Automatic exact mappings (from CISMeF team)
- GART wt Allele [NCIt concept]
- Partial peripheral androgen resistance syndrome [ICD-11 More detail]
- Plasminogen Activator Inhibitor 1 [NCIt concept]
- Plasminogen Activator Inhibitor 2 [NCIt concept]
- SERPINE1 wt Allele [NCIt concept]
- androgen-insensitivity syndrome [MeSH Descriptor]
Broader ORDO disease(s)
- Androgen insensitivity syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Partial Androgen Insensitivity Syndrome [NCIt concept]
- Partial androgen insensitivity [ICD-9 code]
- Partial androgen insensitivity syndrome [ORDO Disease]
- Partial androgen insensitivity syndrome (disorder) [SNOMED CT concept]
- Reifenstein syndrome [PASCAL descriptor]
- Reifenstein syndrome [Disease (Nov.)]
- Reifenstein syndrome (disorder) [SNOMED CT concept]
- Reifenstein's syndrome [MedDRA LLT]
- lubs syndrome [MeSH Supplementary Concept]
- partial androgen insensitivity syndrome [DO Concept]
- reifenstein syndrome [MeSH concept]
- reifenstein syndrome [SNOMED Notion]
DO Cross reference
- hypogonadism [DO Concept]
- partial androgen insensitivity syndrome [DO Concept]
False automatic mappings
- Pulmonary Artery Intimal Sarcoma [NCIt concept]
Genes related to phenotype
- Androgen receptor [OMIM gene]
HPO term(s)
- Abnormal rib cage morphology [HPO term]
- Absent vas deferens [HPO term]
- Azoospermia [HPO term]
- Bifid scrotum [HPO term]
- Cryptorchidism [HPO term]
- Gynecomastia [HPO term]
- Hypogonadism [HPO term]
- Infertility [HPO term]
- Male pseudohermaphroditism [HPO term]
- Micropenis [HPO term]
- Perineal hypospadias [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Partial androgen insensitivity syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Partial Androgen Insensitivity Syndrome [NCIt concept]
- Partial androgen insensitivity [ICD-9 code]
- Partial androgen insensitivity syndrome [ORDO Disease]
- Partial androgen insensitivity syndrome (disorder) [SNOMED CT concept]
- Reifenstein syndrome [Disease (Nov.)]
- Reifenstein syndrome (disorder) [SNOMED CT concept]
- Reifenstein's syndrome [MedDRA LLT]
- reifenstein syndrome [SNOMED Notion]
- reifenstein syndrome [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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