BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

achondrogenesis

Synonyms
Definitions

An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.

ID

http://purl.obolibrary.org/obo/DOID_0080043

database_cross_reference

OMIM:PS200600

GARD:2882

has_obo_namespace

disease_ontology

id

DOID:0080043

imported from

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

label

achondrogenesis

notation

DOID:0080043

prefLabel

achondrogenesis

textual definition

An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disaprportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period.

subClassOf

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

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0080043 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0080043 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0080043 GAMUTS SAME_URI
http://purl.obolibrary.org/obo/DOID_0080043 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0080043 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0080043 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0080043 FNS-H SAME_URI
http://purl.obolibrary.org/obo/DOID_0080043 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0019648 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0019648 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0080043 DOID LOOM
http://purl.bioontology.org/ontology/MESH/C579878 MESH LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.0 ICD10 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84527 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0001079 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C579878 RH-MESH LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.0 ICD10CM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Achondrogenesis CSEO LOOM
http://purl.bioontology.org/ontology/RCTV2/PG4B000 RCTV2 LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/2391001 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/RCD/PG4B0 RCD LOOM
http://purl.obolibrary.org/obo/MONDO_0019648 DOVES LOOM
http://www.gamuts.net/entity#achondrogenesis GAMUTS LOOM
http://www.orpha.net/ORDO/Orphanet_932 ORDO LOOM
http://purl.obolibrary.org/obo/DOID_0080043 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0080043 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0080043 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0080043 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C84527 BERO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10066122 MEDDRA LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1256 HRDO LOOM

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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Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format

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A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format

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Provide any additional information about the requested term here.

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