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

Ontology Browser

Term:
anauxetic dysplasia 1 (DOID:0050640)
Annotations: Rat: (2) Mouse: (3) Human: (3) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
anauxetic dysplasia 1  
A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. (DO)
Anauxetic Dysplasia 2  
Anauxetic Dysplasia 3  

Synonyms
Exact Synonyms: ANXD ;   ANXD1 ;   Spondylometaepiphyseal dysplasia, Anauxetic type ;   Spondylometaepiphyseal dysplasia, Menger type
Primary IDs: MESH:C538256
Alternate IDs: OMIM:607095
Xrefs: GARD:9657
Definition Sources: https://www.ncbi.nlm.nih.gov/books/NBK84550/ "DO"

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.