Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/208100 http://purl.bioontology.org/ontology/OMIM/208100
Preferred Name	ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE
Synonyms	AMC2 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE AMCN AMC, NEUROGENIC TYPE
Type	http://www.w3.org/2002/07/owl#Class

altLabel	AMC2 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE AMCN AMC, NEUROGENIC TYPE
prefLabel	ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE
Gene Symbol	ERGIC32 KIAA1181 ERGIC1 AMC2
Scope Statement	Caused by mutation in the endoplasmic reticulum-Golgi intermediate compartment protein 1 gene (ERGIC1, 617946.0001) [MOLECULAR BASIS] Based on studies of one large consanguineous Arab family (last curated April 2018) [MISCELLANEOUS] Onset at birth [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002310 http://purl.bioontology.org/ontology/OMIM/MTHU003217 http://purl.bioontology.org/ontology/OMIM/MTHU060100 http://purl.bioontology.org/ontology/OMIM/MTHU009867 http://purl.bioontology.org/ontology/OMIM/MTHU012364 http://purl.bioontology.org/ontology/OMIM/MTHU000680 See more See less
tui	T047
Gene Locus	5q35.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	208100
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1859721 C5435650
OMIM Entry Type	3
OMIM MimType Value	pound

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