This website is for informational and educational purposes only. Please do not self-medicate; contact a medical professional for advice before administration. This website is for informational and educational purposes only. Please do not self-medicate; contact a medical professional for advice before administration.

Autosomal Domit Intellectual Developmental Disorder 40

Disease ID: disease_node_16487

Connections displayed (default: 10).
Loading graph...

DbxrefMIM:616579
SubclassofDOID_0060307
Data SourceDOID
SynonymsMRD40, autosomal dominant mental retardation 40, autosomal dominant non-syndromic intellectual disability 40
Doid Labelautosomal domit intellectual developmental disorder 40
Doid DescriptionAn autosomal domit intellectual developmental disorder that has_material_basis_in an autosomal domit de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34.
Disease Node Iddisease_node_16487
Doid IdDOID_0070070
LabelAutosomal Domit Intellectual Developmental Disorder 40