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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/249000
http://purl.bioontology.org/ontology/OMIM/249000
Preferred Name

MECKEL SYNDROME, TYPE 1
Synonyms
MKS1
MECKEL-GRUBER SYNDROME
DYSENCEPHALIA SPLANCHNOCYSTICA
MKS
GRUBER SYNDROME
MES
MECKEL SYNDROME
MECKEL-GRUBER SYNDROME, TYPE 1
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MKS1
MECKEL-GRUBER SYNDROME
DYSENCEPHALIA SPLANCHNOCYSTICA
MKS
GRUBER SYNDROME
MES
MECKEL SYNDROME
MECKEL-GRUBER SYNDROME, TYPE 1
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prefLabel
MECKEL SYNDROME, TYPE 1
Gene Symbol
MKS1
MKS
BBS13
JBTS28
notation
249000
Scope Statement
Perinatal death [MISCELLANEOUS]
Prenatal diagnosis by ultrasound [MISCELLANEOUS]
Caused by mutation in the MKS1 transition zone complex subunit 1 gene (MKS1, 609883.0001) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU011715
http://purl.bioontology.org/ontology/OMIM/MTHU000269
http://purl.bioontology.org/ontology/OMIM/MTHU001744
http://purl.bioontology.org/ontology/OMIM/MTHU011717
http://purl.bioontology.org/ontology/OMIM/MTHU000511
http://purl.bioontology.org/ontology/OMIM/MTHU011732
http://purl.bioontology.org/ontology/OMIM/MTHU007485
http://purl.bioontology.org/ontology/OMIM/MTHU037029
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU003988
http://purl.bioontology.org/ontology/OMIM/MTHU000028
http://purl.bioontology.org/ontology/OMIM/MTHU011728
http://purl.bioontology.org/ontology/OMIM/MTHU037190
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU011724
http://purl.bioontology.org/ontology/OMIM/MTHU011718
http://purl.bioontology.org/ontology/OMIM/MTHU009634
http://purl.bioontology.org/ontology/OMIM/MTHU011726
http://purl.bioontology.org/ontology/OMIM/MTHU001158
http://purl.bioontology.org/ontology/OMIM/MTHU001447
http://purl.bioontology.org/ontology/OMIM/MTHU005345
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU002499
http://purl.bioontology.org/ontology/OMIM/MTHU004127
http://purl.bioontology.org/ontology/OMIM/MTHU010425
http://purl.bioontology.org/ontology/OMIM/MTHU036446
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU003455
http://purl.bioontology.org/ontology/OMIM/MTHU011716
http://purl.bioontology.org/ontology/OMIM/MTHU009436
http://purl.bioontology.org/ontology/OMIM/MTHU005631
http://purl.bioontology.org/ontology/OMIM/MTHU000560
http://purl.bioontology.org/ontology/OMIM/MTHU007063
http://purl.bioontology.org/ontology/OMIM/MTHU036342
http://purl.bioontology.org/ontology/OMIM/MTHU011733
http://purl.bioontology.org/ontology/OMIM/MTHU036403
http://purl.bioontology.org/ontology/OMIM/MTHU007642
http://purl.bioontology.org/ontology/OMIM/MTHU036337
http://purl.bioontology.org/ontology/OMIM/MTHU006867
http://purl.bioontology.org/ontology/OMIM/MTHU036343
http://purl.bioontology.org/ontology/OMIM/MTHU011721
http://purl.bioontology.org/ontology/OMIM/MTHU004501
http://purl.bioontology.org/ontology/OMIM/MTHU000090
http://purl.bioontology.org/ontology/OMIM/MTHU011730
http://purl.bioontology.org/ontology/OMIM/MTHU011719
http://purl.bioontology.org/ontology/OMIM/MTHU011729
http://purl.bioontology.org/ontology/OMIM/MTHU037208
http://purl.bioontology.org/ontology/OMIM/MTHU011722
http://purl.bioontology.org/ontology/OMIM/MTHU011720
http://purl.bioontology.org/ontology/OMIM/MTHU000066
http://purl.bioontology.org/ontology/OMIM/MTHU002571
http://purl.bioontology.org/ontology/OMIM/MTHU011725
http://purl.bioontology.org/ontology/OMIM/MTHU005778
http://purl.bioontology.org/ontology/OMIM/MTHU011727
http://purl.bioontology.org/ontology/OMIM/MTHU036334
http://purl.bioontology.org/ontology/OMIM/MTHU007674
http://purl.bioontology.org/ontology/OMIM/MTHU009007
http://purl.bioontology.org/ontology/OMIM/MTHU011731
http://purl.bioontology.org/ontology/OMIM/MTHU011723
http://purl.bioontology.org/ontology/OMIM/MTHU011714
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
17q23
tui
T047
cui
C3714506
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