Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Mayer-Rokitansky-Kuster-Hauser syndrome type 2 (DOID:0112179)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
Mayer-Rokitansky-Kuster-Hauser syndrome type 1  
Mayer-Rokitansky-Kuster-Hauser syndrome type 2  
A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. (DO)

Synonyms
Exact Synonyms: Klippel-Feil deformity, conductive deafness, and absent vagina ;   MRKH syndrome type 2 ;   MRKH, Type II ;   MURCS ;   MURCS association ;   Mayer-Rokitansky-Kuster-Hauser Syndrome, Type II ;   Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies ;   atypical MRKH syndrome ;   mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia ;   mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
Primary IDs: OMIM:601076
Xrefs: ORDO:2578
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/469663/ "DO" "DO"

paths to the root