Human Disease Ontology

Last uploaded: November 1, 2024
Preferred Name

osteochondrodysplasia
Synonyms

skeletal dysplasia

chondrodystrophy

Osteochondrodysplasia syndrome

Congenital anomaly of cartilage

Cartilage Development disorder

Definitions

A bone development disease that results_in defective development of cartilage or bone.

ID

http://purl.obolibrary.org/obo/DOID_2256

database_cross_reference

SNOMEDCT_US_2023_03_01:205510001

ICD10CM:Q78.9

SNOMEDCT_US_2023_03_01:67988000

MESH:D010009

ICD9CM:756.4

UMLS_CUI:C0008449

UMLS_CUI:C0029422

NCI:C34466

NCI:C84978

definition

A bone development disease that results_in defective development of cartilage or bone.

disease has location

http://purl.obolibrary.org/obo/UBERON_0001474

http://purl.obolibrary.org/obo/UBERON_0002418

has exact synonym

skeletal dysplasia

chondrodystrophy

Osteochondrodysplasia syndrome

Congenital anomaly of cartilage

Cartilage Development disorder

has_alternative_id

DOID:1764

has_obo_namespace

disease_ontology

id

DOID:2256

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

osteochondrodysplasia

notation

DOID:2256

prefLabel

osteochondrodysplasia

subClassOf

http://purl.obolibrary.org/obo/DOID_4

http://purl.obolibrary.org/obo/DOID_1222

http://purl.obolibrary.org/obo/DOID_0080006

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2256 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_2256 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_2256 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_2256 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_2256 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_2256 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_2256 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_2256 FNS-H SAME_URI
http://purl.bioontology.org/ontology/OMIM/MTHU041797 OMIM LOOM
http://purl.obolibrary.org/obo/DOID_2256 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2256 DTO LOOM
http://purl.obolibrary.org/obo/DOID_2256 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2256 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2256 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2256 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2256 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_2256 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Osteochondrodysplasia CSEO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84978 NCIT LOOM
http://purl.obolibrary.org/obo/NCIT_C84978 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10087151 MEDDRA LOOM
http://www.ebi.ac.uk/efo/EFO_0005571 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_0005571 EFO LOOM
http://www.ebi.ac.uk/efo/EFO_0005571 EFO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2256 NATPRO LOOM
http://purl.obolibrary.org/obo/MONDO_0005516 GCBO LOOM
http://purl.obolibrary.org/obo/MONDO_0005516 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0005516 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0005516 KTAO LOOM
http://purl.jp/bio/4/id/200906092645029532 IOBC LOOM
rgo:31439 GAMUTS LOOM
http://www.gamuts.net/entity#osteochondrodysplasia GAMUTS REST
http://www.gamuts.net/entity#chondrodystrophy GAMUTS REST