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DO Term : Pitt-Hopkins syndrome [DOID:0060488] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
  • synonyms:
  • UMLS_CUI:C1970431,
  • NCI:C129872,
  • MESH:C537403,
  • GARD:4372,
  • ORDO:2896,
  • 610954,
  • SNOMEDCT_US_2023_03_01:702344008,
  • OMIM:610954
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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