WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0080954 arthrogryposis multiplex congenita Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth.

1 Ontology

Name
Disease Ontology

9 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:863 nervous system disease A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
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:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:0080015 physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
DOID:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
DOID:0080954 arthrogryposis multiplex congenita A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth.

14 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0080954 DOID:0070336
is_a DOID:0050737 DOID:0080954
is_a DOID:0080015 DOID:0080954
is_a DOID:863 DOID:0080954
is_a DOID:0050739 DOID:0080954
is_a DOID:0050177 DOID:0080954
is_a DOID:7 DOID:0080954
is_a DOID:630 DOID:0080954
is_a DOID:4 DOID:0080954
is_a DOID:0080954 DOID:0080978
is_a DOID:0080954 DOID:0080979
is_a DOID:0080954 DOID:0080980
is_a DOID:0080954 DOID:0080981
is_a DOID:0080954 DOID:0090124

0 Synonyms