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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:
Nivelon-Nivelon-Mabille syndrome,
SNOMEDCT_US_2023_03_01:720851007,
ORDO:1422,
chondrodysplasia-disorder of sex development syndrome,
UMLS_CUI:C1838654,
OMIM:600092,
MESH:C536123,
600092

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

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