Overview
Mayer Rokitansky Küster Hauser syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absent vagina
Always present (100%)HP:0003250
Hypoplastic vagina
Very frequent (80-99%)HP:0008726
Primary amenorrhea
Very frequent (80-99%)HP:0000786
uterus absent
Very frequent (80-99%)HP:0000151
Aplasia of the upper vagina
Frequent (30-79%)HP:0012673
Depressive episode
Frequent (30-79%)HP:0000716
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Dyspareunia
Frequent (30-79%)HP:0030016
Excessive, persistent worry and fear
Frequent (30-79%)HP:0000739
Gastro pain
Frequent (30-79%)HP:0002027
Haematocolpos
Frequent (30-79%)HP:0031923
Laterally sparse eyebrows
Frequent (30-79%)HP:0005338
Multicystic kidney dysplasia
Frequent (30-79%)HP:0000003
Reduced renal corticomedullary differentiation
Frequent (30-79%)HP:0005565
Renal anomalies
Frequent (30-79%)HP:0000077
Renal cyst
Frequent (30-79%)HP:0000107
Renal medullary hyperechogenicity
Frequent (30-79%)HP:0033131
Sclerocystic ovaries
Frequent (30-79%)HP:0000147
Unicornuate uterus
Frequent (30-79%)HP:0031909
Abnormal ear morphology
Occasional (5-29%)HP:0031703
Abnormal spinal segmentation
Occasional (5-29%)HP:0003422
Abnormal vertebral bodies
Occasional (5-29%)HP:0003312
Abnormality of the sacrum
Occasional (5-29%)HP:0005107
Bilateral absent ovaries
Occasional (5-29%)HP:0010463
Bipolar disorder
Occasional (5-29%)HP:0007302
Drug addiction
Occasional (5-29%)HP:0033511
Ectopic kidney
Occasional (5-29%)HP:0000086
Endometriosis
Occasional (5-29%)HP:0030127
Fused kidneys
Occasional (5-29%)HP:0000085
Single kidney
Occasional (5-29%)HP:0000122
Quick Facts
- SNOMED CT
- 1354648006
- UMLS CUI
- C0431648
- Fully Specified Name
- Mayer Rokitansky Küster Hauser syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.