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Zellweger-like syndrome without peroxisomal anomalies
Disease Summary
Associated Targets ()
Mondo Description Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0018861: Zellweger-like syndrome without peroxisomal anomalies
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:50812
SCTID:718880003
UMLS:C4305104
UMLS:CN205183
MONDO:0018861
High level summary of knowledge for a disease, including descriptions and datasource references.