Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

STIFF SKIN SYNDROME
Synonyms

SSKS
ID

http://purl.bioontology.org/ontology/OMIM/184900
altLabel

SSKS
cui

C1861456
Gene Locus

15q21.1
Gene Symbol

FBN1

SSKS

ECTOL1

MFS1

GPHYSD2

MFLS

ACMICD

WMS2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU067411

http://purl.bioontology.org/ontology/OMIM/MTHU037286

http://purl.bioontology.org/ontology/OMIM/MTHU003721

http://purl.bioontology.org/ontology/OMIM/MTHU004882

http://purl.bioontology.org/ontology/OMIM/MTHU027488

http://purl.bioontology.org/ontology/OMIM/MTHU067409

http://purl.bioontology.org/ontology/OMIM/MTHU067410

http://purl.bioontology.org/ontology/OMIM/MTHU012428
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

184900
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

STIFF SKIN SYNDROME
Scope Statement

Caused by mutation in the fibrillin-1 gene (FBN1, 134797.0050) [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10085085 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10085085 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10085085 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/C566112 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/765187004 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/765187004 SNOMEDCT CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118636 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C566112 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_2833 ORDO LOOM
http://purl.obolibrary.org/obo/OMIM_184900 CCO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14742 DERMLEX LOOM
rgo:29399 GAMUTS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10085085 MEDDRA LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2570 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008492 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008492 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008492 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008492 DOVES LOOM
http://purl.obolibrary.org/obo/DERMO_0001910 DERMO LOOM
http://purl.bioontology.org/ontology/MESH/C566112 MESH LOOM
http://identifiers.org/omim/184900 REXO LOOM
http://identifiers.org/omim/184900 GEXO LOOM
http://identifiers.org/omim/184900 RETO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/765187004 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/NCIT_C118636 BERO LOOM
http://purl.obolibrary.org/obo/DOID_0111561 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0111561 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0111561 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0111561 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0111561 FNS-H LOOM