Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620452 http://purl.bioontology.org/ontology/OMIM/620452
Preferred Name	AMYOTROPHIC LATERAL SCLEROSIS 28
Synonyms	ALS28
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ALS28
prefLabel	AMYOTROPHIC LATERAL SCLEROSIS 28
Gene Symbol	LRP12 MIG13A ALS28
Scope Statement	Slowly progressive [MISCELLANEOUS] Adult onset [MISCELLANEOUS] Lower limbs more affected than upper limbs [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Incomplete penetrance [MISCELLANEOUS] Repeat expansions are less than 100 repeats (60-100) [MISCELLANEOUS] Caused by trinucleotide repeat expansion (CGG) in the low density lipoprotein receptor-related protein 12 gene (LRP12, 618299.0001) [MOLECULAR BASIS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU044450 http://purl.bioontology.org/ontology/OMIM/MTHU077325 http://purl.bioontology.org/ontology/OMIM/MTHU000317 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU000653 http://purl.bioontology.org/ontology/OMIM/MTHU044451 http://purl.bioontology.org/ontology/OMIM/MTHU036949 http://purl.bioontology.org/ontology/OMIM/MTHU077326 http://purl.bioontology.org/ontology/OMIM/MTHU043031 http://purl.bioontology.org/ontology/OMIM/MTHU022723 See more See less
tui	T047
Gene Locus	8q22.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620452
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5830642
OMIM Entry Type	3
OMIM MimType Value	pound

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