Details of Disease

General Information of Disease (ID: DIS071X0)

Disease Name Anauxetic dysplasia 2
Synonyms ANXD2; anauxetic dysplasia 2
Disease Hierarchy
DISFIUUO: Anauxetic dysplasia
DIS071X0: Anauxetic dysplasia 2
Disease Identifiers
MONDO ID
MONDO_0054561
UMLS CUI
C4479357
OMIM ID
617396
MedGen ID
1384439

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
POP1 OTBIYMJ0 Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. PLoS Genet. 2011 Mar;7(3):e1002027. doi: 10.1371/journal.pgen.1002027. Epub 2011 Mar 24.