Details of Disease

General Information of Disease (ID: DISRYHZA)

Disease Name Frontonasal dysplasia with alopecia and genital anomaly
Synonyms FND2; frontonasal dysplasia 2; ALX4-related FNDAG; frontonasal dysplasia with alopecia and genital abnomality; craniofrontonasal dysplasia with alopecia and hypogonadism; frontonasal dysplasia type 2
Definition Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.
Disease Hierarchy
DISTXWNT: Integumentary system disorder
DISXV4YX: Frontonasal dysplasia
DISRYHZA: Frontonasal dysplasia with alopecia and genital anomaly
Disease Identifiers
MONDO ID
MONDO_0013268
UMLS CUI
C3150703
OMIM ID
613451
MedGen ID
462053
Orphanet ID
228390

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
ALX4 OTNS9A29 Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

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.