Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
Synonyms

SEMD, X-LINKED

SEMDX
ID

http://purl.bioontology.org/ontology/OMIM/300106
altLabel

SEMD, X-LINKED

SEMDX
cui

C1848097
Gene Locus

Xq28
Gene Symbol

SEMDX

BGN

MRLS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU003491

http://purl.bioontology.org/ontology/OMIM/MTHU008588

http://purl.bioontology.org/ontology/OMIM/MTHU008585

http://purl.bioontology.org/ontology/OMIM/MTHU008589

http://purl.bioontology.org/ontology/OMIM/MTHU007313

http://purl.bioontology.org/ontology/OMIM/MTHU005067

http://purl.bioontology.org/ontology/OMIM/MTHU001358

http://purl.bioontology.org/ontology/OMIM/MTHU001361

http://purl.bioontology.org/ontology/OMIM/MTHU001946

http://purl.bioontology.org/ontology/OMIM/MTHU001506

http://purl.bioontology.org/ontology/OMIM/MTHU053793

http://purl.bioontology.org/ontology/OMIM/MTHU003449

http://purl.bioontology.org/ontology/OMIM/MTHU001106

http://purl.bioontology.org/ontology/OMIM/MTHU008582

http://purl.bioontology.org/ontology/OMIM/MTHU002800

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU000921

http://purl.bioontology.org/ontology/OMIM/MTHU001795

http://purl.bioontology.org/ontology/OMIM/MTHU008576

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU000602

http://purl.bioontology.org/ontology/OMIM/MTHU008581

http://purl.bioontology.org/ontology/OMIM/MTHU008578

http://purl.bioontology.org/ontology/OMIM/MTHU008580

http://purl.bioontology.org/ontology/OMIM/MTHU008583

http://purl.bioontology.org/ontology/OMIM/MTHU008586

http://purl.bioontology.org/ontology/OMIM/MTHU008591

http://purl.bioontology.org/ontology/OMIM/MTHU008584

http://purl.bioontology.org/ontology/OMIM/MTHU005544

http://purl.bioontology.org/ontology/OMIM/MTHU008592

http://purl.bioontology.org/ontology/OMIM/MTHU002799

http://purl.bioontology.org/ontology/OMIM/MTHU008590

http://purl.bioontology.org/ontology/OMIM/MTHU008587

http://purl.bioontology.org/ontology/OMIM/MTHU008579

http://purl.bioontology.org/ontology/OMIM/MTHU008577

http://purl.bioontology.org/ontology/OMIM/MTHU000585

http://purl.bioontology.org/ontology/OMIM/MTHU008593
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

600097
notation

300106
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
Scope Statement

Pectus carinatum present in obligate carrier mothers [MISCELLANEOUS]

Dwarfism not detectable at birth [MISCELLANEOUS]
tui

T047
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