Details of Disease

General Information of Disease (ID: DISKPIOJ)

Disease Name Telecanthus
Synonyms telecanthus
Disease Hierarchy
DIS3Q4UE: Eyelid disorder
DISKPIOJ: Telecanthus
Disease Identifiers
MONDO ID
MONDO_0008537
MESH ID
C562941
UMLS CUI
C0423113
OMIM ID
187350
MedGen ID
140836
HPO ID
HP:0000506
Orphanet ID
98575
SNOMED CT ID
246803005

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
BPTF OTD1RZAD Strong CausalMutation [1]
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References

1 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21.