Online Mendelian Inheritance in Man - MECKEL SYNDROME, TYPE 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

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

altLabel	MKS1 MECKEL-GRUBER SYNDROME DYSENCEPHALIA SPLANCHNOCYSTICA MKS GRUBER SYNDROME MES MECKEL SYNDROME MECKEL-GRUBER SYNDROME, TYPE 1 See more See less
prefLabel	MECKEL SYNDROME, TYPE 1
Gene Symbol	MKS1 MKS BBS13 JBTS28
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]
type	http://www.w3.org/2002/07/owl#Class
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 See more See less
tui	T047
Gene Locus	17q23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	249000
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3714506
OMIM Entry Type	3
OMIM MimType Value	pound

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