BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

Ollier disease

Synonyms

Kast's syndrome

Definitions

OMIM mapping confirmed by DO. [SN]. A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet.

ID

http://purl.obolibrary.org/obo/DOID_4624

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

UMLS_CUI:C0024454

ICD10CM:Q78.4

OMIM:166000

MESH:D004687

SNOMEDCT_US_2020_03_01:46041001

GARD:7251

NCI:C3213

ORDO:296

has exact synonym

Kast's syndrome

DYSCHONDROPLASIA

OSTEOCHONDROMATOSIS

ENCHONDROMATOSIS, MULTIPLE

Enchondromatosis with haemangiomata

has_obo_namespace

disease_ontology

id

DOID:4624

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_rare_slim

label

Ollier disease

notation

DOID:4624

prefLabel

Ollier disease

textual definition

A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet.

subClassOf

http://purl.obolibrary.org/obo/DOID_225

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The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

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