Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/267750
http://purl.bioontology.org/ontology/OMIM/267750
Preferred Name

KNOBLOCH SYNDROME 1
Synonyms
RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE
KNO
KNO1
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
RETINAL DETACHMENT AND OCCIPITAL ENCEPHALOCELE
KNO
KNO1
prefLabel
KNOBLOCH SYNDROME 1
Gene Symbol
GLCC
COL18A1
KNO1
Scope Statement
Inter- and intrafamilial phenotypic variability [MISCELLANEOUS]
Caused by mutation in the collagen XVIII, alpha-1 polypeptide gene (COL18A1, 120328.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU002188
http://purl.bioontology.org/ontology/OMIM/MTHU037026
http://purl.bioontology.org/ontology/OMIM/MTHU001605
http://purl.bioontology.org/ontology/OMIM/MTHU032600
http://purl.bioontology.org/ontology/OMIM/MTHU067861
http://purl.bioontology.org/ontology/OMIM/MTHU037029
http://purl.bioontology.org/ontology/OMIM/MTHU067865
http://purl.bioontology.org/ontology/OMIM/MTHU009671
http://purl.bioontology.org/ontology/OMIM/MTHU067859
http://purl.bioontology.org/ontology/OMIM/MTHU009674
http://purl.bioontology.org/ontology/OMIM/MTHU032602
http://purl.bioontology.org/ontology/OMIM/MTHU001476
http://purl.bioontology.org/ontology/OMIM/MTHU000136
http://purl.bioontology.org/ontology/OMIM/MTHU067867
http://purl.bioontology.org/ontology/OMIM/MTHU005792
http://purl.bioontology.org/ontology/OMIM/MTHU013743
http://purl.bioontology.org/ontology/OMIM/MTHU009675
http://purl.bioontology.org/ontology/OMIM/MTHU067863
http://purl.bioontology.org/ontology/OMIM/MTHU067853
http://purl.bioontology.org/ontology/OMIM/MTHU032601
http://purl.bioontology.org/ontology/OMIM/MTHU004473
http://purl.bioontology.org/ontology/OMIM/MTHU058175
http://purl.bioontology.org/ontology/OMIM/MTHU067856
http://purl.bioontology.org/ontology/OMIM/MTHU067868
http://purl.bioontology.org/ontology/OMIM/MTHU032597
http://purl.bioontology.org/ontology/OMIM/MTHU067864
http://purl.bioontology.org/ontology/OMIM/MTHU002187
http://purl.bioontology.org/ontology/OMIM/MTHU004894
http://purl.bioontology.org/ontology/OMIM/MTHU030431
http://purl.bioontology.org/ontology/OMIM/MTHU032599
http://purl.bioontology.org/ontology/OMIM/MTHU067858
http://purl.bioontology.org/ontology/OMIM/MTHU067854
http://purl.bioontology.org/ontology/OMIM/MTHU032603
http://purl.bioontology.org/ontology/OMIM/MTHU045568
http://purl.bioontology.org/ontology/OMIM/MTHU067862
http://purl.bioontology.org/ontology/OMIM/MTHU067866
http://purl.bioontology.org/ontology/OMIM/MTHU067855
http://purl.bioontology.org/ontology/OMIM/MTHU067860
http://purl.bioontology.org/ontology/OMIM/MTHU000199
http://purl.bioontology.org/ontology/OMIM/MTHU037383
http://purl.bioontology.org/ontology/OMIM/MTHU009672
http://purl.bioontology.org/ontology/OMIM/MTHU067857
http://purl.bioontology.org/ontology/OMIM/MTHU032598
http://purl.bioontology.org/ontology/OMIM/MTHU000842
http://purl.bioontology.org/ontology/OMIM/MTHU036530
http://purl.bioontology.org/ontology/OMIM/MTHU000235
http://purl.bioontology.org/ontology/OMIM/MTHU000242
http://purl.bioontology.org/ontology/OMIM/MTHU042979
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tui
T047
Gene Locus
21q22.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
267750
Semantic type UMLS property
Has inheritance type
cui
C4551775
C1849409
Moved from
611948
608454
OMIM Entry Type
3
OMIM MimType Value
pound
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