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DO Term : chondrodysplasia with joint dislocations gPAPP type [DOID:0112224] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12.
  • synonyms:
  • GARD:11009,
  • ORDO:280586,
  • gPAPP deficiency,
  • OMIM:614078,
  • 614078
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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