BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

Menkes disease

Synonyms

steely hair syndrome

Definitions

OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_1838

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

SNOMEDCT_US_2020_03_01:59178007

UMLS_CUI:C0022716

MESH:D007706

OMIM:309400

GARD:1521

NCI:C75486

has exact synonym

steely hair syndrome

COPPER TRANSPORT DISEASE

Menkes kinky-hair syndrome

has_obo_namespace

disease_ontology

id

DOID:1838

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_FlyBase_slim

label

Menkes disease

notation

DOID:1838

prefLabel

Menkes disease

subClassOf

http://purl.obolibrary.org/obo/DOID_896

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_1838 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_1838 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_1838 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_1838 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_1838 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_1838 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010651 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010651 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_1838 DOID LOOM
http://purl.obolibrary.org/obo/NCIT_C75486 BERO LOOM
http://identifiers.org/omim/309400 REXO LOOM
http://identifiers.org/omim/309400 GEXO LOOM
http://identifiers.org/omim/309400 RETO LOOM
http://purl.obolibrary.org/obo/DERMO_0002746 DERMO LOOM
http://purl.obolibrary.org/obo/MONDO_0010651 DOVES LOOM
http://www.gamuts.net/entity#Menkes_disease GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0022716 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Menkes_Disease CSEO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Menkes'_Disease ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Menkes'_Disease EPISEM LOOM
http://purl.bioontology.org/ontology/OMIM/309400 OMIM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_278 HRDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75486 NCIT LOOM
http://purl.obolibrary.org/obo/OMIM_309400 CCO LOOM
http://purl.obolibrary.org/obo/DOID_1838 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1838 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1838 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1838 FNS-H LOOM
http://www.orpha.net/ORDO/Orphanet_565 ORDO 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.

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

Term description (required)
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

References (optional)
Provide evidence for the existence of the requested term such as PMIDs of papers or links to other resources that describe the term.

Justification (optional)
Provide any additional information about the requested term here.

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