All diseases

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05532 MRD mental retardation, autosomal dominant (MRD, intellectual disability (IDD)) - - 12 12 CAMK2A, CIC, CTCF, KCNQ5, NUS1 - autosomal dominant
03971 MRD21 mental retardation, autosomal dominant, type 21 (MRD-21) 615502 AD 4 4 CTCF - microcephaly; thin vermilion border; abnormality of the dentition; hypermetropia, strabismus, delayed dentition; feeding difficulties; congenital cardiopathies; cryptorchidism; hypotonia; global developmental delay, intellectual disability; growth delay; short stature
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.