Details of Disease

General Information of Disease (ID: DISBBAGE)

Disease Name Spondylo-megaepiphyseal-metaphyseal dysplasia
Synonyms SMMD; spondylo-megaepiphyseal-metaphyseal dysplasia
Disease Hierarchy
DIS1JG9A: Spondyloepiphyseal dysplasia
DISBBAGE: Spondylo-megaepiphyseal-metaphyseal dysplasia
Disease Identifiers
MONDO ID
MONDO_0013228
MESH ID
C567639
UMLS CUI
C2750066
OMIM ID
613330
MedGen ID
412869
Orphanet ID
228387
SNOMED CT ID
773693005

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
NKX3-2 OTH4NRH7 Definitive Autosomal recessive [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.