BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

McCune Albright syndrome

Synonyms

polyostotic fibrous dysplasia

Definitions

OMIM mapping confirmed by DO. [SN]. A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.

ID

http://purl.obolibrary.org/obo/DOID_1858

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

ICD10CM:Q78.1

UMLS_CUI:C0016065

SNOMEDCT_US_2020_03_01:726029005

OMIM:174800

ICD9CM:756.54

GARD:6995

NCI:C34610

has exact match

MESH:D005359

has exact synonym

polyostotic fibrous dysplasia

osteitis fibrosa disseminata

fibrous dysplasia of bone

has_alternative_id

DOID:11345

has_obo_namespace

disease_ontology

id

DOID:1858

imported from

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

in_subset

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

label

McCune Albright syndrome

notation

DOID:1858

prefLabel

McCune Albright syndrome

textual definition

A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis.

subClassOf

http://purl.obolibrary.org/obo/DOID_0050739

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

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_1858 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_1858 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_1858 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_1858 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_1858 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_1858 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_1858 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_1858 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018919 EFO LOOM
rgo:23336 GAMUTS LOOM
rgo:23336 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_1858 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0018919 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_1858 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2200412 NANDO LOOM
http://purl.obolibrary.org/obo/OMIM_174800 CCO LOOM
http://purl.obolibrary.org/obo/MONDO_0018919 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#McCune-Albright_Syndrome CSEO LOOM
http://purl.obolibrary.org/obo/NCIT_C48627 BERO LOOM
http://purl.obolibrary.org/obo/DOID_1858 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1858 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1858 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1858 FNS-H LOOM
http://purl.bioontology.org/ontology/MEDDRA/10051698 MEDDRA LOOM
http://purl.bioontology.org/ontology/OMIM/174800 OMIM LOOM
http://identifiers.org/omim/174800 REXO LOOM
http://identifiers.org/omim/174800 GEXO LOOM
http://identifiers.org/omim/174800 RETO LOOM
http://purl.org/skeletome/bonedysplasia#McCune-Albright_syndrome BDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#24765 OCHV LOOM
http://www.gamuts.net/entity#McCune_Albright_syndrome GAMUTS LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0242292 OCHV LOOM
http://purl.obolibrary.org/obo/DERMO_0000365 DERMO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_279 HRDO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-01021 SNMI LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15302 DERMLEX LOOM
http://www.orpha.net/ORDO/Orphanet_562 ORDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48627 NCIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/726029005 SNOMEDCT LOOM

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