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.

Geleophysic Dysplasia 2

Disease ID: disease_node_15706

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

DbxrefMIM:614185
SubclassofDOID_0050736, DOID_0111724
Data SourceDOID
SynonymsGPHYSD2
Doid Labelgeleophysic dysplasia 2
Doid DescriptionA geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_15706
Doid IdDOID_0111726
LabelGeleophysic Dysplasia 2