Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

PSEUDO-TORCH SYNDROME 1
Synonyms

BLCPMG

PSEUDO-TORCH SYNDROME

PTORCH1

BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA
ID

http://purl.bioontology.org/ontology/OMIM/251290
altLabel

BLCPMG

PSEUDO-TORCH SYNDROME

PTORCH1

BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA
cui

C3489725

C4552078
Gene Locus

5q13.1
Gene Symbol

PTORCH1

OCLN

BLCPMG
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU067739

http://purl.bioontology.org/ontology/OMIM/MTHU000269

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU001605

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU037613

http://purl.bioontology.org/ontology/OMIM/MTHU036336

http://purl.bioontology.org/ontology/OMIM/MTHU009985

http://purl.bioontology.org/ontology/OMIM/MTHU010506

http://purl.bioontology.org/ontology/OMIM/MTHU042045

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU001601

http://purl.bioontology.org/ontology/OMIM/MTHU024399

http://purl.bioontology.org/ontology/OMIM/MTHU009220

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU042041

http://purl.bioontology.org/ontology/OMIM/MTHU036919

http://purl.bioontology.org/ontology/OMIM/MTHU026045

http://purl.bioontology.org/ontology/OMIM/MTHU026041

http://purl.bioontology.org/ontology/OMIM/MTHU001896

http://purl.bioontology.org/ontology/OMIM/MTHU010474

http://purl.bioontology.org/ontology/OMIM/MTHU000265

http://purl.bioontology.org/ontology/OMIM/MTHU007070

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU000090

http://purl.bioontology.org/ontology/OMIM/MTHU042040

http://purl.bioontology.org/ontology/OMIM/MTHU000155

http://purl.bioontology.org/ontology/OMIM/MTHU002997

http://purl.bioontology.org/ontology/OMIM/MTHU026042

http://purl.bioontology.org/ontology/OMIM/MTHU022503

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU039330

http://purl.bioontology.org/ontology/OMIM/MTHU013529

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU001613

http://purl.bioontology.org/ontology/OMIM/MTHU000235
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

600158
notation

251290
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

PSEUDO-TORCH SYNDROME 1
Scope Statement

Early death may occur [MISCELLANEOUS]

Resembles intrauterine TORCH infection but without intrauterine infection [MISCELLANEOUS]

Caused by mutation in the occludin gene (OCLN, 602876.0001) [MOLECULAR BASIS]
tui

T047
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