Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

WEILL-MARCHESANI SYNDROME 1
Synonyms

MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL

WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE

SPHEROPHAKIA-BRACHYMORPHIA SYNDROME

WMS1
ID

http://purl.bioontology.org/ontology/OMIM/277600
altLabel

MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL

WEILL-MARCHESANI SYNDROME, AUTOSOMAL RECESSIVE

SPHEROPHAKIA-BRACHYMORPHIA SYNDROME

WMS1
cui

C1869114

C4552002
Gene Locus

19p13.3-p13.2
Gene Symbol

ADAMTS10

WMS1
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.
notation

277600
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

WEILL-MARCHESANI SYNDROME 1
Scope Statement

See (608328) for a phenotypically similar autosomal dominant form [MISCELLANEOUS]

Caused by mutation in the ADAM metallopeptidase domain with thrombospondin type 1 motif, 10 gene (ADAMTS10, 608990.0001) [MOLECULAR BASIS]
tui

T047
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