Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
Synonyms

PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
ID

http://purl.bioontology.org/ontology/OMIM/253290
altLabel

PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE

LMPS
cui

C1854678
Gene Locus

2q33-q34
Gene Symbol

ACHRG

CHRNG
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU002159

http://purl.bioontology.org/ontology/OMIM/MTHU007987

http://purl.bioontology.org/ontology/OMIM/MTHU023121

http://purl.bioontology.org/ontology/OMIM/MTHU007831

http://purl.bioontology.org/ontology/OMIM/MTHU015010

http://purl.bioontology.org/ontology/OMIM/MTHU028295

http://purl.bioontology.org/ontology/OMIM/MTHU028293

http://purl.bioontology.org/ontology/OMIM/MTHU028303

http://purl.bioontology.org/ontology/OMIM/MTHU003721

http://purl.bioontology.org/ontology/OMIM/MTHU014835

http://purl.bioontology.org/ontology/OMIM/MTHU028299

http://purl.bioontology.org/ontology/OMIM/MTHU028297

http://purl.bioontology.org/ontology/OMIM/MTHU001305

http://purl.bioontology.org/ontology/OMIM/MTHU002680

http://purl.bioontology.org/ontology/OMIM/MTHU028301

http://purl.bioontology.org/ontology/OMIM/MTHU000091

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

http://purl.bioontology.org/ontology/OMIM/MTHU009434

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU028302

http://purl.bioontology.org/ontology/OMIM/MTHU028298

http://purl.bioontology.org/ontology/OMIM/MTHU028296

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU028294

http://purl.bioontology.org/ontology/OMIM/MTHU005900

http://purl.bioontology.org/ontology/OMIM/MTHU028300

http://purl.bioontology.org/ontology/OMIM/MTHU028304

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU037764

http://purl.bioontology.org/ontology/OMIM/MTHU000094

http://purl.bioontology.org/ontology/OMIM/MTHU036439
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

253290
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C537377 Medical Subject Headings CUI