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DO Term : schneckenbecken dysplasia [DOID:0050775] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31.
  • synonyms:
  • MESH:C536637,
  • 269250,
  • GARD:169,
  • OMIM:269250
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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