WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111761 46,XX sex reversal 1 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome.

1 Ontology

Name
Disease Ontology

12 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:28 endocrine system disease A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body.
DOID:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0080009 X-linked dominant disease A X-linked monogenic disease that has_material_basis_in dominant inheritance.
DOID:0050735 X-linked monogenic disease A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
DOID:2277 gonadal disease An endocrine system disease that is located_in the gonads.
DOID:1923 disorder of sexual development A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex.
DOID:14447 gonadal dysgenesis A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.
DOID:0111760 46,XX sex reversal A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous.
DOID:0111761 46,XX sex reversal 1 A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome.

11 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0080009 DOID:0111761
is_a DOID:0111760 DOID:0111761
is_a DOID:0050177 DOID:0111761
is_a DOID:630 DOID:0111761
is_a DOID:2277 DOID:0111761
is_a DOID:7 DOID:0111761
is_a DOID:4 DOID:0111761
is_a DOID:0050735 DOID:0111761
is_a DOID:28 DOID:0111761
is_a DOID:1923 DOID:0111761
is_a DOID:14447 DOID:0111761

1 Synonyms

Name Type
SRXX1 synonym