|  Help  |  About  |  Contact Us

DO Term : Ehlers-Danlos syndrome classic-like 2 [DOID:0080732] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations.
  • synonyms:
  • OMIM:618000,
  • 618000
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents