Online Mendelian Inheritance in Man - CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/611890 http://purl.bioontology.org/ontology/OMIM/611890
Preferred Name	CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE
Synonyms	LAAHD, FORMERLY LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE, FORMERLY CAAHD
Type	http://www.w3.org/2002/07/owl#Class

altLabel	LAAHD, FORMERLY LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE, FORMERLY CAAHD
prefLabel	CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE
Gene Symbol	LCCS GLE1L GLE1 LCCS1 CAAHD
Scope Statement	Highly variable severity [MISCELLANEOUS] Death in infancy or early childhood may occur [MISCELLANEOUS] Onset in utero [MISCELLANEOUS] Caused by mutation in the GLE1, RNA export mediator gene (GLE1, 603371.0002) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000379 http://purl.bioontology.org/ontology/OMIM/MTHU036427 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU049614 http://purl.bioontology.org/ontology/OMIM/MTHU010738 http://purl.bioontology.org/ontology/OMIM/MTHU001623 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU033304 http://purl.bioontology.org/ontology/OMIM/MTHU021665 http://purl.bioontology.org/ontology/OMIM/MTHU063760 http://purl.bioontology.org/ontology/OMIM/MTHU003217 http://purl.bioontology.org/ontology/OMIM/MTHU063758 http://purl.bioontology.org/ontology/OMIM/MTHU004214 http://purl.bioontology.org/ontology/OMIM/MTHU000317 http://purl.bioontology.org/ontology/OMIM/MTHU063754 http://purl.bioontology.org/ontology/OMIM/MTHU063757 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU004124 http://purl.bioontology.org/ontology/OMIM/MTHU000579 http://purl.bioontology.org/ontology/OMIM/MTHU001172 http://purl.bioontology.org/ontology/OMIM/MTHU000681 http://purl.bioontology.org/ontology/OMIM/MTHU063756 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU063753 http://purl.bioontology.org/ontology/OMIM/MTHU063759 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU000655 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU038242 http://purl.bioontology.org/ontology/OMIM/MTHU036949 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU005748 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU003214 http://purl.bioontology.org/ontology/OMIM/MTHU000199 http://purl.bioontology.org/ontology/OMIM/MTHU068872 http://purl.bioontology.org/ontology/OMIM/MTHU000669 http://purl.bioontology.org/ontology/OMIM/MTHU007095 http://purl.bioontology.org/ontology/OMIM/MTHU026492 http://purl.bioontology.org/ontology/OMIM/MTHU011174 http://purl.bioontology.org/ontology/OMIM/MTHU003516 http://purl.bioontology.org/ontology/OMIM/MTHU005932 http://purl.bioontology.org/ontology/OMIM/MTHU040091 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU031268 http://purl.bioontology.org/ontology/OMIM/MTHU056249 See more See less
tui	T047
Gene Locus	9q34
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	611890
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5193016
OMIM Entry Type	3
OMIM MimType Value	pound

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