WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060359 Sakati-Nyhan syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.

1 Ontology

Name
Disease Ontology

10 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: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:0080006 bone development disease A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
DOID:11971 synostosis A dysostosis that results_in abnormal fusing of adjacent bones.
DOID:1934 dysostosis A bone development disease that results in defective ossification of bone.
DOID:12960 acrocephalosyndactylia A synostosis that results_in craniosynostosis and syndactyly.
DOID:0060359 Sakati-Nyhan syndrome An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.

9 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:12960 DOID:0060359
is_a DOID:65 DOID:0060359
is_a DOID:1934 DOID:0060359
is_a DOID:0080006 DOID:0060359
is_a DOID:0080001 DOID:0060359
is_a DOID:11971 DOID:0060359
is_a DOID:7 DOID:0060359
is_a DOID:17 DOID:0060359
is_a DOID:4 DOID:0060359

5 Synonyms

Name Type
ACPS with leg hypoplasia synonym
acrocephalopolysyndactyly type 3 synonym
acrocephalopolysyndactyly Type III synonym
Sakati syndrome synonym
Sakati-Nyhan-Tisdale syndrome synonym