Contiguous Abcd1-Dxs1375e Deletion Syndrome

Preferred Label : Contiguous Abcd1-Dxs1375e Deletion Syndrome;

CISMeF synonym : contiguous Abcd1/Dxs1375e deletion syndrome;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0564808;

UMLS CUI

C1845408;

Automatic exact mappings (from CISMeF team)
- Deafness, dystonia, and cerebral hypomyelination [OMIM Phenotype]
Related record
- Contiguous Abcd1-Dxs1375e Deletion Syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CADDS [ORDO Disease]

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