FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

stiff skin syndrome
Synonyms
Definitions

A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in FBN1 on chromosome 15q21.1.

ID

http://purl.obolibrary.org/obo/DOID_0111561

definition

A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in FBN1 on chromosome 15q21.1.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

stiff skin syndrome

prefixIRI

DOID:0111561

prefLabel

stiff skin syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_37

http://purl.obolibrary.org/obo/DOID_0050736

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http://purl.obolibrary.org/obo/DOID_0111561 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0111561 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0111561 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0111561 NIFSTD SAME_URI
http://purl.bioontology.org/ontology/OMIM/184900 OMIM LOOM
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