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DO Term : Catel Manzke syndrome [DOID:0081122] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32.
  • synonyms:
  • OMIM:616145,
  • ORDO:1388,
  • 616145,
  • Micrognathia digital syndrome,
  • MESH:C535347,
  • GARD:28,
  • Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
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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