Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/620368
http://purl.bioontology.org/ontology/OMIM/620368
Preferred Name

CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3
Synonyms
CRMCC3
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CRMCC3
prefLabel
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3
Gene Symbol
PFBMFT8
POT1
CRMCC3
TPDS3
Scope Statement
Early death (1 of 2 sibs) [MISCELLANEOUS]
Caused by mutation in the protection of telomeres 1 gene (POT1, 606478.0013) [MOLECULAR BASIS]
Rapid progression [MISCELLANEOUS]
Onset in utero [MISCELLANEOUS]
Two sisters have been reported (last curated May 2023) [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU019082
http://purl.bioontology.org/ontology/OMIM/MTHU033483
http://purl.bioontology.org/ontology/OMIM/MTHU007831
http://purl.bioontology.org/ontology/OMIM/MTHU002047
http://purl.bioontology.org/ontology/OMIM/MTHU077176
http://purl.bioontology.org/ontology/OMIM/MTHU005719
http://purl.bioontology.org/ontology/OMIM/MTHU077177
http://purl.bioontology.org/ontology/OMIM/MTHU000031
http://purl.bioontology.org/ontology/OMIM/MTHU077178
http://purl.bioontology.org/ontology/OMIM/MTHU001673
http://purl.bioontology.org/ontology/OMIM/MTHU012538
http://purl.bioontology.org/ontology/OMIM/MTHU001305
http://purl.bioontology.org/ontology/OMIM/MTHU000655
http://purl.bioontology.org/ontology/OMIM/MTHU001721
http://purl.bioontology.org/ontology/OMIM/MTHU037874
http://purl.bioontology.org/ontology/OMIM/MTHU015980
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tui
T047
Gene Locus
7q31.33
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
620368
Semantic type UMLS property
Has inheritance type
cui
C5830497
OMIM Entry Type
3
OMIM MimType Value
pound
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