WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0080724 Kenny-Caffey syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia.

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:225 syndrome A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality.
DOID:0080006 bone development disease A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
DOID:2256 osteochondrodysplasia A bone development disease that results_in defective development of cartilage or bone.
DOID:1222 cartilage disease A connective tissue disease that is located_in cartilage.
DOID:0080724 Kenny-Caffey syndrome A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia.

11 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0080724 DOID:0080722
is_a DOID:0080724 DOID:0080723
is_a DOID:225 DOID:0080724
is_a DOID:2256 DOID:0080724
is_a DOID:0080001 DOID:0080724
is_a DOID:1222 DOID:0080724
is_a DOID:7 DOID:0080724
is_a DOID:0080006 DOID:0080724
is_a DOID:65 DOID:0080724
is_a DOID:4 DOID:0080724
is_a DOID:17 DOID:0080724

0 Synonyms