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

Ontology Browser

Term:
Three M Syndrome 2 (DOID:9006598)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
3-M syndrome +     
Three M Syndrome 1  
Three M Syndrome 2  
3M syndrome-2 (3M2) is characterized by low birth weight and short stature, relative macrocephaly, lumbar hyperlordosis, and prominent heels. Dysmorphic facial features include triangular face with frontal bossing and midface hypoplasia, anteverted nares with fleshy nasal tip, and full fleshy lips. 3M2 is caused by homozygous or compound heterozygous mutation in the OBSL1 gene on chromosome 2q35. (OMIM)
Three M Syndrome 3  

Synonyms
Exact Synonyms: 3M SYNDROME 2 ;   3M2
Primary IDs: MESH:C567862
Alternate IDs: OMIM:612921 ;   RDO:0012070

paths to the root