Contiguous Abcd1-Dxs1375e Deletion Syndrome

Preferred Label : Contiguous Abcd1-Dxs1375e Deletion Syndrome;

MeSH note : contiguous gene microdeletion syndrome involving ABCD1and BCAP31;

CISMeF synonym : contiguous Abcd1/Dxs1375e deletion syndrome;

Détails

Origin ID

C564508;

UMLS CUI

C3806634;

MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- chromosome disorders [MeSH Descriptor]
- gene deletion [MeSH Descriptor]
Record concept(s)
- Contiguous Abcd1-Dxs1375e Deletion Syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CADDS [ORDO Disease]
- Contiguous ABCD1 DXS1357E deletion syndrome (disorder) [SNOMED CT concept]
- Deafness, dystonia, and cerebral hypomyelination [OMIM Phenotype]
Validated automatic mappings to BTNT
- Deafness, dystonia, and cerebral hypomyelination [OMIM Phenotype]

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