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DO Term : chondrodysplasia-pseudohermaphroditism syndrome [DOID:0060644] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:720851007,
  • 600092,
  • UMLS_CUI:C1838654,
  • chondrodysplasia-disorder of sex development syndrome,
  • OMIM:600092,
  • MESH:C536123,
  • ORDO:1422,
  • Nivelon-Nivelon-Mabille syndrome
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Disease

Diseases --> Human genes

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Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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