WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:10426 Klippel-Feil syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.

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:0060564 spinal disease A bone disease that is located_in the spine.
DOID:17 musculoskeletal system disease A disease of anatomical entity that occurs in the muscular and/or skeletal system.
DOID:0080001 bone disease A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
DOID:65 connective tissue disease A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
DOID:225 syndrome A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
DOID:0080015 physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
DOID:10426 Klippel-Feil syndrome A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra.

12 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:10426 DOID:0080589
is_a DOID:10426 DOID:0080590
is_a DOID:10426 DOID:0080591
is_a DOID:10426 DOID:0080592
is_a DOID:0080015 DOID:10426
is_a DOID:225 DOID:10426
is_a DOID:0060564 DOID:10426
is_a DOID:0080001 DOID:10426
is_a DOID:7 DOID:10426
is_a DOID:4 DOID:10426
is_a DOID:65 DOID:10426
is_a DOID:17 DOID:10426

6 Synonyms

Name Type
Klippel-Feil deformity, deafness and facial asymmetry synonym
DOID:14747 alt_id
autosomal dominant Klippel-Feil syndrome synonym
congenital dystrophia brevicollis synonym
congenital synostosis of cervical vertebrae synonym
Klippel-Feil and Turner syndrome synonym