You are using an outdated browser. Please upgrade your browser to improve your experience.
brachycephaly, trichomegaly, and developmental delay
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}).
Uniprot Description An autosomal dominant developmental disorder characterized by brachycephaly, ciliary trichomegaly, dysmorphic features of the face and hands, hearing loss, and developmental delay with short stature. Intellectual disability and autism spectrum disorder may be present in some patients.
Mondo Term and Equivalent IDs
MONDO:0044311: brachycephaly, trichomegaly, and developmental delay
Download Data for brachycephaly, trichomegaly, and developmental delay
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:617412
UMLS:C4479431
MONDO:0044311
High level summary of knowledge for a disease, including descriptions and datasource references.