Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
female reproductive system
|
| gptkbp:alsoKnownAs |
MRKH syndrome
Mayer-Rokitansky-Küster-Hauser syndrome |
| gptkbp:associatedWith |
normal ovarian function
normal external genitalia |
| gptkbp:cause |
primary amenorrhea
|
| gptkbp:characterizedBy |
absence of uterus
absence of upper part of vagina |
| gptkbp:diagnosedBy |
clinical examination
imaging studies |
| gptkbp:firstDescribed |
gptkb:Carl_von_Rokitansky
Georg Hauser Hermann Küster August Franz Joseph Karl Mayer |
| gptkbp:hasGeneticCause |
unknown
|
| https://www.w3.org/2000/01/rdf-schema#label |
Müllerian aplasia
|
| gptkbp:ICD-10_code |
Q51.0
|
| gptkbp:OMIM |
277000
|
| gptkbp:onset |
at birth
|
| gptkbp:prevalence |
1 in 4,500 female births
|
| gptkbp:symptom |
infertility
absent menstruation |
| gptkbp:treatment |
surgical creation of neovagina
vaginal dilation |
| gptkbp:bfsParent |
gptkb:LHX1_(human)
gptkb:Wnt4 |
| gptkbp:bfsLayer |
8
|