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autosomal recessive primary microcephaly

^ http://purl.obolibrary.org/obo/MONDO_0016660

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. [ Orphanet:2512 ]

Term info

database cross reference
  • OMIMPS:251200 (MONDO:equivalentTo)
  • Orphanet:2512 (MONDO:equivalentTo)
  • DOID:0070296 (MONDO:equivalentTo)
  • MESH:C579935 (MONDO:equivalentTo)
  • SCTID:715981004 (MONDO:equivalentTo)
  • GARD:0012117 (MONDO:equivalentTo)
  • UMLS:C3711387 (Orphanet:2512)
Subsets

gard_rare, clingen, ordo_etiological_subtype

abbreviation
MCPH [ Orphanet:2512 ]

definition

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

exactMatch

https://omim.org/phenotypicSeries/PS251200, http://identifiers.org/snomedct/715981004, http://purl.obolibrary.org/obo/Orphanet_2512, http://linkedlifedata.com/resource/umls/id/C3711387, http://identifiers.org/mesh/C579935, http://purl.obolibrary.org/obo/DOID_0070296

has broad synonym

true microcephaly

has exact synonym

microcephaly vera, MCPH, microcephaly, primary autosomal recessive, microcephalia vera, microcephaly, primary, autosomal recessive

id

MONDO:0016660

seeAlso

https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly