Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	MUENKE SYNDROME
Synonyms	MNKES MUENKE NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS
ID	http://purl.bioontology.org/ontology/OMIM/602849
altLabel	MNKES MUENKE NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS
cui	C1864436
Gene Locus	4p16.3
Gene Symbol	ACH FGFR3
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU007696 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU003706 http://purl.bioontology.org/ontology/OMIM/MTHU020357 http://purl.bioontology.org/ontology/OMIM/MTHU020354 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU002153 http://purl.bioontology.org/ontology/OMIM/MTHU020358 http://purl.bioontology.org/ontology/OMIM/MTHU000259 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU038585 http://purl.bioontology.org/ontology/OMIM/MTHU000560 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU000088 http://purl.bioontology.org/ontology/OMIM/MTHU037442 http://purl.bioontology.org/ontology/OMIM/MTHU000389 http://purl.bioontology.org/ontology/OMIM/MTHU000195 http://purl.bioontology.org/ontology/OMIM/MTHU003702 http://purl.bioontology.org/ontology/OMIM/MTHU020359 http://purl.bioontology.org/ontology/OMIM/MTHU004634 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU020356 http://purl.bioontology.org/ontology/OMIM/MTHU006871
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	602849
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	MUENKE SYNDROME
Scope Statement	Caused by mutation in the fibroblast growth factor receptor 3 gene (FGFR3, 134934.0014) [MOLECULAR BASIS] Females more severely affected than males [MISCELLANEOUS] Birth rate of 7.6 per 1,000,000 [MISCELLANEOUS] Significant phenotypic variability [MISCELLANEOUS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/787407003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/440350001	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/440350001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/C537369	MESH	CUI
http://purl.bioontology.org/ontology/MDRGER/10088781	MDRGER	CUI
http://purl.bioontology.org/ontology/MDRFRE/10088781	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/787407003	SCTSPA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10088781	MEDDRA	CUI
http://purl.obolibrary.org/obo/DOID_0060703	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0011274	MONDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/787407003	SNOMEDCT	LOOM
http://www.orpha.net/ORDO/Orphanet_53271	ORDO	LOOM
http://purl.obolibrary.org/obo/OMIM_602849	CCO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011274	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0011274	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0011274	DOVES	LOOM
http://identifiers.org/omim/602849	REXO	LOOM
http://identifiers.org/omim/602849	GEXO	LOOM
http://identifiers.org/omim/602849	RETO	LOOM
http://purl.bioontology.org/ontology/MESH/C537369	MESH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84904	NCIT	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Muenke_Syndrome	CSEO	LOOM
http://purl.obolibrary.org/obo/DOID_0060703	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0060703	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0060703	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0060703	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0060703	FNS-H	LOOM
http://purl.bioontology.org/ontology/RCTV2/PG03000	RCTV2	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10716	HRDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537369	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10088781	MEDDRA	LOOM
http://purl.obolibrary.org/obo/NCIT_C84904	BERO	LOOM