Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Jackson-Weiss syndrome
Synonyms

Craniosynostosis, midfacial hypoplasia, and foot abnormalities
ID

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

Craniosynostosis, midfacial hypoplasia, and foot abnormalities

Acrocephalosyndactyly Jackson Weiss type

Enlarged great toes and craniofacial abnormalities
cui

C0795998
HM

D003398

D005532
Inverse of RB

0
Mapped to

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

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

20100825
MeSH Frequency

1
MMR

20131024
notation

C537559
prefLabel

Jackson-Weiss syndrome
SC

3
TERMUI

T742980

T742982

T742984

T742983
TH

ORD (2010)

OMIM (2013)

GHR (2014)
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/176943 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/123150 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/123150 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/OMIM/136350 Online Mendelian Inheritance in Man CUI
http://purl.obolibrary.org/obo/DOID_0111337 Human Disease Ontology 123 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123814 National Cancer Institute Thesaurus LOOM