meckel syndrome type 2

Preferred Label : meckel syndrome type 2;

MeSH note : mutation in TMEM216;

MeSH synonym : Meckel-Gruber syndrome, type 2; meckel syndrome, type 2;

Details

Origin ID

C536131;

UMLS CUI

C1864148;

Currated CISMeF NLP mapping
- Meckel Gruber syndrome type 2 [Disease (Nov.)]
- Meckel syndrome 2 [DO Concept]
- Meckel syndrome, type 2 [OMIM Phenotype]
MeSH term(s) associated for indexing
- ciliary motility disorders [MeSH Descriptor]
- encephalocele [MeSH Descriptor]
- polycystic kidney diseases [MeSH Descriptor]
Record concept(s)
- Meckel syndrome type 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Meckel Gruber syndrome type 2 [Disease (Nov.)]
- Meckel syndrome 2 [DO Concept]
- Meckel syndrome, type 2 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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