Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620978 http://purl.bioontology.org/ontology/OMIM/620978
Preferred Name	LEUKODYSTROPHY, HYPOMYELINATING, 28
Synonyms	HLD28
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HLD28
prefLabel	LEUKODYSTROPHY, HYPOMYELINATING, 28
Gene Symbol	HLD28 MAL
Scope Statement	Based on a report of 2 Pakistani brothers (last curated October 2024) [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Caused by mutation in the myelin and lymphocyte protein gene (MAL, 188860.0001) [MOLECULAR BASIS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU008526 http://purl.bioontology.org/ontology/OMIM/MTHU003335 http://purl.bioontology.org/ontology/OMIM/MTHU036543 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU079230 http://purl.bioontology.org/ontology/OMIM/MTHU079229 http://purl.bioontology.org/ontology/OMIM/MTHU000282 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	2cen-q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620978
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5975460
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display