Human Phenotype Ontology

Last uploaded: January 16, 2025
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Id http://purl.obolibrary.org/obo/HP_0000133
http://purl.obolibrary.org/obo/HP_0000133
Preferred Name

Gonadal dysgenesis
Definitions
Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen. Gonadal dysgenesis is a genetic condition due to errors in cell division and or alterations in genetic material, leading to complete or partial loss of gonadal development. The development of gonadal dysgenesis begins early either at fertilization or shortly after in the early stages of the embryo and fetus.
Synonyms
Mixed gonadal dysgenesis
Pure gonadal dysgenesis
Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen.
label
Gonadal dysgenesis
comment
Gonadal dysgenesis is a genetic condition due to errors in cell division and or alterations in genetic material, leading to complete or partial loss of gonadal development. The development of gonadal dysgenesis begins early either at fertilization or shortly after in the early stages of the embryo and fetus.
prefLabel
Gonadal dysgenesis
database_cross_reference
UMLS:C0018051
SNOMEDCT_US:38804009
UMLS:C0687149
SNOMEDCT_US:205681004
SNOMEDCT_US:95219002
UMLS:C0018055
SNOMEDCT_US:83579008
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notation
HP:0000133
id
HP:0000133
has_obo_namespace
human_phenotype
subClassOf
has_alternative_id
HP:0003243
type
has_exact_synonym
Mixed gonadal dysgenesis
Pure gonadal dysgenesis
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