Preferred Label : Mullerian-Renal-Cervical Spine Syndrome;
NCIt related terms : MRKH Type 2; Unilateral Renal Dysplasia and Cervicothoracic Somite Anomalies; Mullerian Duct Aplasia; MURCS Syndrome;
Alternative definition : NICHD: A condition characterized by Mullerian duct aplasia, unilateral renal dysplasia,
and cervicothoracic anomalies. Other associated findings may include skeletal abnormalities
(scoliosis, vertebral anomalies, rib malformations, spina bifida), and face and limb
malformations (brachymesophalangy, ectrodactyly). Heart malformations may include
valvular pulmonary stenosis, aortopulmonary window, atrial septal defect, and/or tetralogy
of Fallot. Putative candidate genes such as HNF1B (17q12), LHX1 (17q12), SHOX (Xp22.33
and Yp11.32), TBX6 ( 16p11.2), and ITIH5 (10p14) may be implicated.;
NCI Metathesaurus CUI : CL514176;
Origin ID : C131010;
UMLS CUI : C4330718;
Automatic exact mappings (from CISMeF team)
- Semantic type(s)
- concept_is_in_subset
