FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term primary autosomal recessive microcephaly ID (Ontology) DOID:0070296 (Human Disease)
Definition A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation.
Also Known As "MCPH"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
No relevant statements available
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
microcephaly                     |
 |__primary microcephaly_________|
                                 primary autosomal recessive microcephaly  68 rec.
                                  |__primary autosomal recessive microcephaly 1 2 rec.
                                  |__primary autosomal recessive microcephaly 2 with or without cortical malformations 6 rec.
                                  |__primary autosomal recessive microcephaly 3 2 rec.
                                  |__primary autosomal recessive microcephaly 4
                                  |__primary autosomal recessive microcephaly 5 14 rec.
                                  |__primary autosomal recessive microcephaly 6 4 rec.
                                  |__primary autosomal recessive microcephaly 7
                                  |__primary autosomal recessive microcephaly 8 1 rec.
                                  |__primary autosomal recessive microcephaly 9
                                  |__primary autosomal recessive microcephaly 10 4 rec.
                                  |__primary autosomal recessive microcephaly 11 2 rec.
                                  |__primary autosomal recessive microcephaly 12 1 rec.
                                  |__primary autosomal recessive microcephaly 13 2 rec.
                                  |__primary autosomal recessive microcephaly 14 1 rec.
                                  |__primary autosomal recessive microcephaly 15
                                  |__primary autosomal recessive microcephaly 16 18 rec.
                                  |__primary autosomal recessive microcephaly 17 2 rec.
                                  |__primary autosomal recessive microcephaly 19 1 rec.
                                  |__primary autosomal recessive microcephaly 20 1 rec.
                                  |__primary autosomal recessive microcephaly 21 1 rec.
                                  |__primary autosomal recessive microcephaly 22 1 rec.
                                  |__primary autosomal recessive microcephaly 23 1 rec.
                                  |__primary autosomal recessive microcephaly 24 1 rec.
                                  |__primary autosomal recessive microcephaly 25
                                  |__primary autosomal recessive microcephaly 28 1 rec.
                                  |__primary autosomal recessive microcephaly 29 1 rec.
                                  |__primary autosomal recessive microcephaly 30 2 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
primary microcephaly
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "MCPH" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
GARD:12117
MIM:PS251200
ORDO:2512