Rokitansky-Küster-Hauser syndrome
GPTKB entity
Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:syndrome
gptkb:genetic_disorder |
| gptkbp:affects |
female reproductive system
|
| gptkbp:alsoKnownAs |
MRKH syndrome
Müllerian agenesis |
| gptkbp:associatedWith |
normal ovarian function
normal secondary sexual characteristics |
| gptkbp:category |
gptkb:gynecological_disorder
gptkb:rare_disease |
| gptkbp:cause |
primary amenorrhea
|
| gptkbp:characterizedBy |
absence of uterus
underdeveloped or absent vagina |
| gptkbp:diagnosedBy |
MRI
pelvic ultrasound |
| gptkbp:firstDescribed |
gptkb:Carl_von_Rokitansky
Georg Hauser Hermann Küster |
| gptkbp:geneticStudies |
possible
|
| gptkbp:ICD-10_code |
Q51.0
|
| gptkbp:namedAfter |
gptkb:Carl_von_Rokitansky
Georg Hauser Hermann Küster |
| gptkbp:OMIM |
277000
|
| gptkbp:onset |
puberty
|
| gptkbp:prevalence |
1 in 4,500 female births
|
| gptkbp:symptom |
infertility
absent menstruation |
| gptkbp:treatment |
surgical creation of neovagina
vaginal dilation |
| gptkbp:bfsParent |
gptkb:Carl_Rokitansky
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
Rokitansky-Küster-Hauser syndrome
|