Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandDiseases (C)
Parent Node:
expandMullerian aplasia (C537371)
..Starting node
..expandMAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME (OMIM:277000)

       Child Nodes:



 Sister Nodes: 
..expandMAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME (OMIM:277000)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6850
Name:MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME
Definition:
Alternative IDs:
ParentIDs:MESH:C537371
TreeNumbers:C12.706.316.064/C537371/277000 |C13.351.875.253.064/C537371/277000 |C16.131.939.316.064/C537371/277000 |C16.131/C537371/277000 |C19.391.119.064/C537371/277000 |F03.800.399.500/C537371/277000
Synonyms:CONGENITAL ABSENCE OF UTERUS AND VAGINA;CAUV UROGENITAL ADYSPLASIA, INCLUDED |MRK ANOMALY |MRKH ANOMALY |MRKH SYNDROME |MULLERIAN APLASIA/DYSGENESIS |UTERUS BIPARTITUS SOLIDUS RUDIMENTARIUS CUM VAGINA SOLIDA |VON MAYER-ROKITANSKY-KUSTER ANOMALY
Slim Mappings:Congenital abnormality|Endocrine system disease|Mental disorder|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: 277000
MeSH: 277000
OMIM: 277000;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0000141Amenorrhea
4 HP:0003250Aplasia of the vagina
5 HP:0000013Hypoplasia of the uterus
Disease Causing ClinVar Variants