Statements (36)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
syndrome
|
| gptkbp:affects |
females
|
| gptkbp:alsoKnownAs |
Müllerian agenesis
Müllerian duct aplasia |
| gptkbp:associatedWith |
renal anomalies
skeletal anomalies |
| gptkbp:characterizedBy |
congenital absence of the upper two-thirds of the vagina
congenital absence of the uterus |
| gptkbp:diagnosedBy |
clinical examination
imaging (ultrasound, MRI) |
| gptkbp:fertility |
affected individuals cannot carry a pregnancy
ovaries are usually functional |
| gptkbp:fertilityOption |
adoption
gestational surrogacy |
| gptkbp:fieldOfStudy |
reproductive medicine
gynecology |
| gptkbp:firstDescribed |
gptkb:Carl_von_Rokitansky
Hermann Küster August Franz Joseph Karl Mayer Georges André Hauser |
| gptkbp:fullName |
Mayer-Rokitansky-Küster-Hauser syndrome
|
| gptkbp:geneticStudies |
possible autosomal dominant inheritance with incomplete penetrance
|
| gptkbp:hasOrphanetID |
ORPHA:144
|
| gptkbp:hasType |
Type I (isolated)
Type II (with associated malformations) |
| https://www.w3.org/2000/01/rdf-schema#label |
MRKH
|
| gptkbp:ICD-10_code |
Q51.0
|
| gptkbp:OMIM |
277000
|
| gptkbp:prevalence |
1 in 4,500 female births
|
| gptkbp:symptom |
primary amenorrhea
normal ovarian function normal development of secondary sexual characteristics |
| gptkbp:treatment |
vaginal dilation
surgical creation of a neovagina |
| gptkbp:bfsParent |
gptkb:MRSK_Holding
|
| gptkbp:bfsLayer |
7
|