Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/164180
http://purl.bioontology.org/ontology/OMIM/164180
Preferred Name

OCULOCEREBROCUTANEOUS SYNDROME
Synonyms
ORBITAL CYST WITH CEREBRAL AND FOCAL DERMAL MALFORMATIONS
DELLEMAN SYNDROME
OCCS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
ORBITAL CYST WITH CEREBRAL AND FOCAL DERMAL MALFORMATIONS
DELLEMAN SYNDROME
OCCS
prefLabel
OCULOCEREBROCUTANEOUS SYNDROME
notation
164180
Scope Statement
Features may be bilateral (15/24) or left side (9/24) [MISCELLANEOUS]
All cases sporadic (18 males, 7 females) [MISCELLANEOUS]
OMIM MimType Value
none
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
0
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU037026
http://purl.bioontology.org/ontology/OMIM/MTHU000511
http://purl.bioontology.org/ontology/OMIM/MTHU036611
http://purl.bioontology.org/ontology/OMIM/MTHU000061
http://purl.bioontology.org/ontology/OMIM/MTHU016628
http://purl.bioontology.org/ontology/OMIM/MTHU003988
http://purl.bioontology.org/ontology/OMIM/MTHU010004
http://purl.bioontology.org/ontology/OMIM/MTHU011808
http://purl.bioontology.org/ontology/OMIM/MTHU007660
http://purl.bioontology.org/ontology/OMIM/MTHU016635
http://purl.bioontology.org/ontology/OMIM/MTHU007688
http://purl.bioontology.org/ontology/OMIM/MTHU037027
http://purl.bioontology.org/ontology/OMIM/MTHU036342
http://purl.bioontology.org/ontology/OMIM/MTHU016637
http://purl.bioontology.org/ontology/OMIM/MTHU016636
http://purl.bioontology.org/ontology/OMIM/MTHU016630
http://purl.bioontology.org/ontology/OMIM/MTHU037028
http://purl.bioontology.org/ontology/OMIM/MTHU004136
http://purl.bioontology.org/ontology/OMIM/MTHU001429
http://purl.bioontology.org/ontology/OMIM/MTHU067313
http://purl.bioontology.org/ontology/OMIM/MTHU000133
http://purl.bioontology.org/ontology/OMIM/MTHU000574
http://purl.bioontology.org/ontology/OMIM/MTHU016633
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU000235
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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MIMTYPEMEANING
Other, mainly phenotypes with suspected mendelian basis
tui
T047
cui
C0796092
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