FB2025_05 , released December 11, 2025

CV Term Report

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General Information
Term	multiple congenital anomalies-hypotonia-seizures syndrome	ID (Ontology)	DOID:0080503 (Human Disease)
Definition	A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies.
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Links to External Ontologies
	DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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Spanning Tree (Parents/Children)

disease
 |__physical disorder__________
inherited metabolic disorder   |
 |__lipid metabolism disorder__|
                               multiple congenital anomalies-hypotonia-seizures syndrome  15 rec.
                                |__multiple congenital anomalies-hypotonia-seizures syndrome 1 5 rec.
                                |__multiple congenital anomalies-hypotonia-seizures syndrome 2 8 rec.
                                |__multiple congenital anomalies-hypotonia-seizures syndrome 3 1 rec.
                                |__multiple congenital anomalies-hypotonia-seizures syndrome 4 1 rec.

Spanning Tree View Settings
Parents/Children View Depth	Show hierarchy levels: for parents, for children
Relationships
Is a	physical disorder lipid metabolism disorder
Part of
Synonyms & Secondary IDs
Synonyms

Secondary IDs

External Crossreferences & Linkouts
	GARD:12781 MIM:PS614080 ORDO:280633