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Last uploaded:
January 16, 2025
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Id | http://purl.bioontology.org/ontology/MESH/D003394
http://purl.bioontology.org/ontology/MESH/D003394
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Preferred Name | Craniofacial Dysostosis |
Definitions |
Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.
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Synonyms |
Crouzon's Disease
Dysarthroses, Craniofacial
Craniofacial Dysostosis Syndrome
Dysarthrosis, Craniofacial
Craniofacial Dysostosis Type 1
Craniofacial Dysostosis, Crouzon
Dysostosis, Craniofacial
Crouzon Syndrome
Craniofacial Dysarthroses
Craniofacial Dysostosis, Type I
Craniofacial Dysarthrosis
Craniofacial Dysostosis Syndromes
Crouzons Disease
Crouzon Disease
Crouzon Craniofacial Dysostosis
Craniofacial Dysostoses
Dysostoses, Craniofacial
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia. |
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altLabel |
Crouzon's Disease
Dysarthroses, Craniofacial
Craniofacial Dysostosis Syndrome
Dysarthrosis, Craniofacial
Craniofacial Dysostosis Type 1
Craniofacial Dysostosis, Crouzon
Dysostosis, Craniofacial
Crouzon Syndrome
Craniofacial Dysarthroses
Craniofacial Dysostosis, Type I
Craniofacial Dysarthrosis
Craniofacial Dysostosis Syndromes
Crouzons Disease
Crouzon Disease
Crouzon Craniofacial Dysostosis
Craniofacial Dysostoses
Dysostoses, Craniofacial
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prefLabel |
Craniofacial Dysostosis
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TH |
OMIM (2013)
NLM (1966)
NLM (2012)
UNK (19XX)
GHR (2014)
NLM (2014)
ORD (2010)
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notation |
D003394
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DX |
19660101
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MN |
C05.660.207.231
C16.131.621.207.231
C05.116.099.370.231
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FX |
D051497
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MMR |
20160119
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Mapped from |
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AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
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subClassOf | |
Semantic type UMLS property | |
DC |
1
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MDA |
19990101
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Inverse of RO | |
type | |
tui |
T047
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cui |
C0010273
C2931196
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AN |
"craniofacial dysmorphism" does not go here: index under FACIAL BONES / abnorm + SKULL / abnorm but not also ABNORMALITIES, MULTIPLE
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Inverse of AQ |
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TERMUI |
T782668
T841220
T841219
T009882
T009881
T009880
T782666
T009879
T811308
T782667
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