FNS-Harmony

Last uploaded: November 2, 2023
Jump to:
loading...
Preferred Name

McCune Albright syndrome
Synonyms
Definitions

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
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.
imported from

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

McCune Albright syndrome
prefixIRI

DOID:1858
prefLabel

McCune Albright syndrome
subClassOf

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

http://purl.obolibrary.org/obo/DOID_225
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

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 BAO 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/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.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