Source:http://linkedlifedata.com/resource/phenotype/id/HP:0000062
| Predicate | Object |
|---|---|
| rdf:type | |
| skos:definition |
"A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4." [HPO:probinson, pmid:15102623]
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| skos:inScheme | |
| skos:prefLabel |
Ambiguous genitalia
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| skos:altLabel |
Ambiguous external genitalia,
Ambiguous external genitalia at birth
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| skos:notation |
UMLS:C0266362 "Ambiguous genitalia"
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| skos:note |
Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome.
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| skos:broader |