syndromic disease
developmental anomaly of metabolic origin
CADDS
https://github.com/monarch-initiative/mondo/issues/5809
CADDS
Zellweger-like contiguous gene deletion syndrome
MONDO:0018247
Orphanet:369942
UMLS:CN180200
GARD:12472
contiguous ABCD1 DXS1357E deletion syndrome
leukodystrophy
peroxisomal disease