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multiple congenital anomalies-hypotonia-seizures syndrome 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0013563

Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene. [ MONDO:design_pattern ]

Synonyms: inherited GPI anchor-deficiency multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability PIGN-CDG multiple congenital anomalies-hypotonia-seizures syndrome type 1 congenital disorder of glycosylation due to PIGN deficiency multiple congenital anomalies-hypotonia-seizures syndrome 1

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:614080 (Orphanet:280633/e)
  • Orphanet:280633 (OMIM:614080)
  • GARD:12781 (Orphanet:280633)
  • UMLS:C3279775 (OMIM:614080)
  • NCIT:C176896 (MONDO:equivalentTo)
  • DOID:0080138 (MONDO:equivalentTo)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4804

https://github.com/monarch-initiative/mondo/issues/5996

https://github.com/monarch-initiative/mondo/issues/5965

exactMatch

http://www.orpha.net/ORDO/Orphanet_280633

http://purl.obolibrary.org/obo/NCIT_C176896

http://linkedlifedata.com/resource/umls/id/C3279775

http://purl.obolibrary.org/obo/DOID_0080138

https://omim.org/entry/614080

has narrow synonym

PIGN-related inherited GPI deficiency

has related synonym

glycosylphosphatidylinositol biosynthesis defect 3

multiple congenital anomalies - hypotonia - seizures syndrome

MCAHS1

multiple congenital anomalies-hypotonia-seizures syndrome

id

MONDO:0013563

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013563