Medical Subject Headings

Last uploaded: November 18, 2019
Preferred Name

Muenke Syndrome

Synonyms

Syndrome of coronal craniosynostosis

ID

http://purl.bioontology.org/ontology/MESH/C537369

altLabel

Syndrome of coronal craniosynostosis

Muenke nonsyndromic coronal craniosynostosis

FGFR3-Associated Coronal Synostosis

cui

C1864436

HM

D003398

Inverse of RB

0

Mapped to

http://purl.bioontology.org/ontology/MESH/D003398

MDA

20100825

MeSH Frequency

38

MMR

20150818

notation

C537369

prefLabel

Muenke Syndrome

SC

3

Scope Statement

A hereditary autosomal dominant disorder characterized by uni- or bicoronal synostosis (craniosyostoses), MACROCEPHALY, midfacial hypoplasia, and DEVELOPMENTAL DISABILITIES. Other more variable features include thimble-shaped middle phalanges, BRACHYDACTYLY, carpal/tarsal fusion, and DEAFNESS. The phenotype is variable and can range from no detectable clinical manifestations to complex findings. This disorder is caused by a mutation (P250R) in the FGFR3 gene. OMIM: 602849

TERMUI

T846123

T742361

T742362

T742360

TH

ORD (2010)

OMIM (2013)

GHR (2014)

tui

T047

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http://identifiers.org/omim/602849 RETO LOOM
http://identifiers.org/omim/602849 GEXO LOOM
http://identifiers.org/omim/602849 REXO LOOM
http://purl.obolibrary.org/obo/DOID_0060703 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060703 NIFSTD LOOM
http://www.orpha.net/ORDO/Orphanet_53271 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_53271 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_53271 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_53271 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_53271 ORDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10716 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0011274 MONDO LOOM
http://purl.bioontology.org/ontology/OMIM/134934 OMIM CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Muenke_Syndrome CSEO LOOM
http://purl.bioontology.org/ontology/RCTV2/PG03000 RCTV2 LOOM
http://purl.bioontology.org/ontology/SCTSPA/440350001 SCTSPA CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537369 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/787407003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/787407003 SNOMEDCT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84904 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84904 NCIT LOOM
http://purl.bioontology.org/ontology/OMIM/602849 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/602849 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/440350001 SNOMEDCT CUI