Medical Subject Headings

Last uploaded: August 28, 2024
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Preferred Name

Jackson-Weiss syndrome
Synonyms

Enlarged great toes and craniofacial abnormalities

Craniosynostosis, midfacial hypoplasia, and foot abnormalities

Acrocephalosyndactyly Jackson Weiss type
ID

http://purl.bioontology.org/ontology/MESH/C537559
altLabel

Enlarged great toes and craniofacial abnormalities

Craniosynostosis, midfacial hypoplasia, and foot abnormalities

Acrocephalosyndactyly Jackson Weiss type
cui

C0795998
HM

D005532

D003398
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D005532

http://purl.bioontology.org/ontology/MESH/D003398
MDA

20100825
MeSH Frequency

3
MMR

20131024
notation

C537559
prefLabel

Jackson-Weiss syndrome
SC

3
TERMUI

T742982

T742983

T742984

T742980
TH

OMIM (2013)

GHR (2014)

ORD (2010)
tui

T047
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/136350 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/709105005 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/123150 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/709105005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/OMIM/176943 OMIM CUI
http://purl.obolibrary.org/obo/DOID_0111337 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0007400 MONDO LOOM
http://purl.obolibrary.org/obo/OMIM_123150 CCO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#48950 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123814 NCIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0795998 OCHV LOOM
rgo:27105 GAMUTS LOOM
http://www.orpha.net/ORDO/Orphanet_1540 ORDO LOOM
http://identifiers.org/omim/123150 REXO LOOM
http://identifiers.org/omim/123150 GEXO LOOM
http://identifiers.org/omim/123150 RETO LOOM
http://purl.obolibrary.org/obo/MONDO_0007400 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0007400 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0007400 DOVES LOOM
http://purl.bioontology.org/ontology/OMIM/123150 OMIM LOOM
http://purl.obolibrary.org/obo/DOID_0111337 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0111337 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0111337 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0111337 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0111337 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537559 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1699 HRDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/709105005 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/NCIT_C123814 BERO LOOM
http://purl.org/skeletome/bonedysplasia#Jackson-Weiss_syndrome BDO LOOM