FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term primary autosomal recessive microcephaly 5 ID (Ontology) DOID:0070280 (Human Disease)
Definition A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31.
Also Known As "MCPH5"
Comment
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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)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       9
Human Disease Models (FBhh)  DOID       1
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Relevant FlyBase reports
 Alleles Genes Human Disease Models
 primary autosomal recessive microcephaly 5       9      4      1
 ameliorates | primary autosomal recessive microcephaly 5       5       --       --
 exacerbates | primary autosomal recessive microcephaly 5       1       --       --
 for disease ribbon | primary autosomal recessive microcephaly 5       --       1       --
 model of | primary autosomal recessive microcephaly 5       3      1       --
Spanning Tree (Parents/Children)
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autosomal recessive disease__
primary microcephaly_________|
                             primary autosomal recessive microcephaly
                              |__primary autosomal recessive microcephaly 5  14 rec.
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Is a primary autosomal recessive microcephaly
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Synonyms
  • "MCPH5" EXACT OMO:0003012
Secondary IDs
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MIM:608716