Details of Disease

General Information of Disease (ID: DISH4NN3)

Disease Name Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
Synonyms FND3; frontonasal dysplasia 3; ALX1-related frontonasal dysplasia; frontonasal dysplasia type 3
Disease Hierarchy
DISXV4YX: Frontonasal dysplasia
DISH4NN3: Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
Disease Identifiers
MONDO ID
MONDO_0013271
UMLS CUI
C3150706
OMIM ID
613456
MedGen ID
462056
Orphanet ID
306542

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
ALX1 OTZVARA5 Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.