Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1

Preferred Label : Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1;

NCIt synonyms : GPIBD3; Glycosylphosphatidylinositol Biosynthesis Defect 3; MCAHS1;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PIGN gene, encoding GPI ethanolamine phosphate transferase 1. Though the phenotype is variable, it may be characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems.;

Details

Origin ID

C176896;

UMLS CUI

C3279775;

Automatic exact mappings (from CISMeF team)
- Developmental and epileptic encephalopathy 80 [OMIM Phenotype]
Currated CISMeF NLP mapping
- Multiple congenital anomalies-hypotonia-seizures syndrome 1 [OMIM Phenotype]
- multiple congenital anomalies-hypotonia-seizures syndrome 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple congenital anomalies-hypotonia-seizures syndrome 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Multiple congenital anomalies-hypotonia-seizures syndrome [ORDO Disease]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PIGN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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