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Amish lethal microcephaly

^ http://purl.obolibrary.org/obo/MONDO_0011790

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year. [ Orphanet:99742 ]

Term info

database cross reference
  • OMIM:607196 (Orphanet:99742/e)
  • SCTID:702437000 (MONDO:equivalentTo)
  • UMLS:C1846648 (Orphanet:99742)
  • Orphanet:99742 (OMIM:607196)
  • MESH:C538247 (Orphanet:99742/e)
  • GARD:0008606 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
MCPHA [ MONDO:Lexical OMIM:607196 ]

definition

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

exactMatch

http://identifiers.org/snomedct/702437000, http://purl.obolibrary.org/obo/Orphanet_99742, https://omim.org/entry/607196, http://linkedlifedata.com/resource/umls/id/C1846648, http://identifiers.org/mesh/C538247

has exact synonym

Amish lethal microcephaly

has related synonym

microcephaly, Amish type, thiamine metabolism dysfunction syndrome 3 (microcephaly type), MCPHA

id

MONDO:0011790

seeAlso

https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly