Online Mendelian Inheritance in Man - WEILL-MARCHESANI SYNDROME 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	WEILL-MARCHESANI SYNDROME 2
Synonyms	MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL GEMSS SPHEROPHAKIA-BRACHYMORPHIA SYNDROME WMS2 WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME
ID	http://purl.bioontology.org/ontology/OMIM/608328
altLabel	MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL GEMSS SPHEROPHAKIA-BRACHYMORPHIA SYNDROME WMS2 WEILL-MARCHESANI SYNDROME, AUTOSOMAL DOMINANT GLAUCOMA-LENS ECTOPIA-MICROSPHEROPHAKIA-STIFFNESS-SHORTNESS SYNDROME
cui	C1869115
Gene Locus	15q21.1
Gene Symbol	FBN1 SSKS ECTOL1 MFS1 GPHYSD2 MFLS ACMICD WMS2
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU030601 http://purl.bioontology.org/ontology/OMIM/MTHU002327 http://purl.bioontology.org/ontology/OMIM/MTHU002332 http://purl.bioontology.org/ontology/OMIM/MTHU002325 http://purl.bioontology.org/ontology/OMIM/MTHU000504 http://purl.bioontology.org/ontology/OMIM/MTHU004637 http://purl.bioontology.org/ontology/OMIM/MTHU002319 http://purl.bioontology.org/ontology/OMIM/MTHU004639 http://purl.bioontology.org/ontology/OMIM/MTHU000587 http://purl.bioontology.org/ontology/OMIM/MTHU002342 http://purl.bioontology.org/ontology/OMIM/MTHU001370 http://purl.bioontology.org/ontology/OMIM/MTHU001061 http://purl.bioontology.org/ontology/OMIM/MTHU002333 http://purl.bioontology.org/ontology/OMIM/MTHU002317 http://purl.bioontology.org/ontology/OMIM/MTHU001627 http://purl.bioontology.org/ontology/OMIM/MTHU002337 http://purl.bioontology.org/ontology/OMIM/MTHU033032 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU000088 http://purl.bioontology.org/ontology/OMIM/MTHU002329 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU002331 http://purl.bioontology.org/ontology/OMIM/MTHU002338 http://purl.bioontology.org/ontology/OMIM/MTHU002334 http://purl.bioontology.org/ontology/OMIM/MTHU002341 http://purl.bioontology.org/ontology/OMIM/MTHU004673 http://purl.bioontology.org/ontology/OMIM/MTHU036382 http://purl.bioontology.org/ontology/OMIM/MTHU067946 http://purl.bioontology.org/ontology/OMIM/MTHU002335 http://purl.bioontology.org/ontology/OMIM/MTHU036338 http://purl.bioontology.org/ontology/OMIM/MTHU002330 http://purl.bioontology.org/ontology/OMIM/MTHU002328 http://purl.bioontology.org/ontology/OMIM/MTHU002343 http://purl.bioontology.org/ontology/OMIM/MTHU002344 http://purl.bioontology.org/ontology/OMIM/MTHU002321 http://purl.bioontology.org/ontology/OMIM/MTHU002320 http://purl.bioontology.org/ontology/OMIM/MTHU002336 http://purl.bioontology.org/ontology/OMIM/MTHU036356 http://purl.bioontology.org/ontology/OMIM/MTHU002318
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	137765
notation	608328
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	WEILL-MARCHESANI SYNDROME 2
Scope Statement	See (277600) for a phenotypically similar autosomal recessive form [MISCELLANEOUS] Caused by mutation in the fibrillin-1 gene (FBN1, 134797.0040) [MOLECULAR BASIS]
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MSHFRE/D056846	MSHFRE	CUI
	http://purl.bioontology.org/ontology/MESH/D056846	MESH	CUI
	http://identifiers.org/omim/608328	REXO	LOOM
	http://identifiers.org/omim/608328	GEXO	LOOM
	http://identifiers.org/omim/608328	RETO	LOOM
	http://purl.obolibrary.org/obo/OMIM_608328	CCO	LOOM