Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
Synonyms

PTERYGIUM COLLI SYNDROME

EVMPS

MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE

PTERYGIUM SYNDROME

ESCOBAR SYNDROME

PTERYGIUM UNIVERSALE

MULTIPLE PTERYGIUM SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/265000
altLabel

PTERYGIUM COLLI SYNDROME

EVMPS

MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE

PTERYGIUM SYNDROME

ESCOBAR SYNDROME

PTERYGIUM UNIVERSALE

MULTIPLE PTERYGIUM SYNDROME
cui

C0265261
Gene Locus

2q33-q34
Gene Symbol

ACHRG

CHRNG
Has manifestation

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

http://purl.bioontology.org/ontology/OMIM/MTHU009858

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

http://purl.bioontology.org/ontology/OMIM/MTHU009861

http://purl.bioontology.org/ontology/OMIM/MTHU002079

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

http://purl.bioontology.org/ontology/OMIM/MTHU036370

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

http://purl.bioontology.org/ontology/OMIM/MTHU009872

http://purl.bioontology.org/ontology/OMIM/MTHU037914

http://purl.bioontology.org/ontology/OMIM/MTHU001946

http://purl.bioontology.org/ontology/OMIM/MTHU037915

http://purl.bioontology.org/ontology/OMIM/MTHU004127

http://purl.bioontology.org/ontology/OMIM/MTHU009554

http://purl.bioontology.org/ontology/OMIM/MTHU009864

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU009866

http://purl.bioontology.org/ontology/OMIM/MTHU001151

http://purl.bioontology.org/ontology/OMIM/MTHU036337

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU007150

http://purl.bioontology.org/ontology/OMIM/MTHU009862

http://purl.bioontology.org/ontology/OMIM/MTHU001153

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU009873

http://purl.bioontology.org/ontology/OMIM/MTHU002016

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU004153

http://purl.bioontology.org/ontology/OMIM/MTHU006237

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

http://purl.bioontology.org/ontology/OMIM/MTHU009871

http://purl.bioontology.org/ontology/OMIM/MTHU009867

http://purl.bioontology.org/ontology/OMIM/MTHU037255

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU000710

http://purl.bioontology.org/ontology/OMIM/MTHU009863

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU009868

http://purl.bioontology.org/ontology/OMIM/MTHU005748

http://purl.bioontology.org/ontology/OMIM/MTHU000066

http://purl.bioontology.org/ontology/OMIM/MTHU000189

http://purl.bioontology.org/ontology/OMIM/MTHU009869

http://purl.bioontology.org/ontology/OMIM/MTHU009870

http://purl.bioontology.org/ontology/OMIM/MTHU009865

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU001436

http://purl.bioontology.org/ontology/OMIM/MTHU009596

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

Phenotype description, molecular basis known.
Moved from

609339
notation

265000
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
Scope Statement

Caused by mutation in the cholinergic receptor, nicotinic, gamma polypeptide gene (CHRNG, 100730.0001) [MOLECULAR BASIS]

Majority of patients are ambulatory [MISCELLANEOUS]

Allelic to multiple pterygium syndrome, lethal type (253290) [MISCELLANEOUS]
tui

T019
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