Details of Disease

General Information of Disease (ID: DISQDMZW)

Disease Name Cranioectodermal dysplasia 4
Synonyms CED4; cranioectodermal dysplasia type 4; cranioectodermal dysplasia 4
Disease Hierarchy
DISW7Y64: Cranioectodermal dysplasia
DISQDMZW: Cranioectodermal dysplasia 4
Disease Identifiers
MONDO ID
MONDO_0013719
UMLS CUI
C3280616
OMIM ID
614378
MedGen ID
482246

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WDR19 OTP5X5WA Definitive Autosomal recessive [1]
ANKH OTCN25R5 Definitive Biomarker [2]
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References

1 Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20.
2 Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia.J Bone Miner Res. 2009 Jul;24(7):1206-15. doi: 10.1359/jbmr.090218.