Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
primary autosomal recessive microcephaly 1 (DOID:0070285)
Annotations: Rat: (5) Mouse: (5) Human: (14) Chinchilla: (5) Bonobo: (5) Dog: (5) Squirrel: (5) Pig: (5) Naked Mole-rat: (5) Green Monkey: (5)
Parent Terms Term With Siblings Child Terms
primary autosomal recessive microcephaly 1  
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23. (DO)
primary autosomal recessive microcephaly 10  
primary autosomal recessive microcephaly 11  
primary autosomal recessive microcephaly 12  
primary autosomal recessive microcephaly 13  
primary autosomal recessive microcephaly 14  
primary autosomal recessive microcephaly 15  
primary autosomal recessive microcephaly 16  
primary autosomal recessive microcephaly 17  
primary autosomal recessive microcephaly 19  
primary autosomal recessive microcephaly 2 with or without cortical malformations  
Primary Autosomal Recessive Microcephaly 20  
Primary Autosomal Recessive Microcephaly 21  
Primary Autosomal Recessive Microcephaly 22  
Primary Autosomal Recessive Microcephaly 23  
Primary Autosomal Recessive Microcephaly 24  
Primary Autosomal Recessive Microcephaly 25  
Primary Autosomal Recessive Microcephaly 26  
Primary Autosomal Recessive Microcephaly 27  
Primary Autosomal Recessive Microcephaly 28  
Primary Autosomal Recessive Microcephaly 29  
primary autosomal recessive microcephaly 3  
Primary Autosomal Recessive Microcephaly 30  
primary autosomal recessive microcephaly 4  
primary autosomal recessive microcephaly 5  
primary autosomal recessive microcephaly 6  
primary autosomal recessive microcephaly 7  
primary autosomal recessive microcephaly 8  
primary autosomal recessive microcephaly 9  

Synonyms
Exact Synonyms: MCPH1 ;   PCC syndrome ;   premature chromosome condensation syndrome ;   premature chromosome condensation with microcephaly and mental retardation
Primary IDs: MESH:C565384
Alternate IDs: OMIM:251200
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/12046007 "DO" "DO"

paths to the root