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DO Term : Van Maldergem syndrome [DOID:0060238] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.
  • synonyms:
  • GARD:5456,
  • MESH:C536530,
  • UMLS_CUI:C1832390,
  • SNOMEDCT_US_2023_03_01:763353000,
  • PS601390,
  • OMIM:PS601390,
  • cerebro-facio-articular syndrome,
  • ORDO:314679
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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