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DO Term : Tonne-Kalscheuer syndrome [DOID:0112042] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2.
  • synonyms:
  • intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia,
  • 300978,
  • X-linked mental retardation 61,
  • OMIM:300978,
  • TOKAS,
  • MRX61
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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