Details of Disease

General Information of Disease (ID: DISHQP40)

Disease Name Immunoskeletal dysplasia with neurodevelopmental abnormalities
Synonyms IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities; ISDNA
Disease Hierarchy
DIS1JG9A: Spondyloepiphyseal dysplasia
DISHQP40: Immunoskeletal dysplasia with neurodevelopmental abnormalities
Disease Identifiers
MONDO ID
MONDO_0044312
UMLS CUI
C4479452
OMIM ID
617425
MedGen ID
1381460

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
EXTL3 OT2BRUBN Strong Autosomal recessive [1]
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References

1 Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. Am J Hum Genet. 2017 Feb 2;100(2):281-296. doi: 10.1016/j.ajhg.2017.01.013. Epub 2017 Jan 26.