Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

McCune-Albright syndrome

Synonyms

Gonadotropin-independent female-limited sexual precocity

Definitions

McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).

ID

http://www.orpha.net/ORDO/Orphanet_562

alternative_term

Gonadotropin-independent female-limited sexual precocity

definition

McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562

has_age_of_onset

Childhood

has_inheritance

Not applicable

hasDbXref

ICD-11:FB80.0

UMLS:C0242292

ICD-10:Q78.1

OMIM:174800

label

McCune-Albright syndrome

notation

ORPHA:562

part_of

http://www.orpha.net/ORDO/Orphanet_79375

http://www.orpha.net/ORDO/Orphanet_595216

http://www.orpha.net/ORDO/Orphanet_183422

http://www.orpha.net/ORDO/Orphanet_435564

http://www.orpha.net/ORDO/Orphanet_314749

http://www.orpha.net/ORDO/Orphanet_183466

http://www.orpha.net/ORDO/Orphanet_650187

http://www.orpha.net/ORDO/Orphanet_178040

prefixIRI

ORDO:Orphanet_562

prefLabel

McCune-Albright syndrome

present_in

Europe AND has_point_prevalence_average_value : 0.55 AND has_point_prevalence_range : 1-9 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_79375

http://www.orpha.net/ORDO/Orphanet_595216

http://www.orpha.net/ORDO/Orphanet_183422

http://www.orpha.net/ORDO/Orphanet_435564

http://www.orpha.net/ORDO/Orphanet_314749

http://www.orpha.net/ORDO/Orphanet_183466

http://www.orpha.net/ORDO/Orphanet_650187

http://www.orpha.net/ORDO/Orphanet_178040

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_562 EFO 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 BAO 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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48627 NCIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/726029005 SNOMEDCT LOOM
http://www.gamuts.net/entity#McCune_Albright_syndrome GAMUTS REST
http://www.gamuts.net/entity#McCune_Albright_syndrome GAMUTS REST
http://www.gamuts.net/entity#McCune_Albright_syndrome GAMUTS REST