Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/OMIM/256710 http://purl.bioontology.org/ontology/OMIM/256710
Preferred Name	ELEJALDE NEUROECTODERMAL MELANOLYSOSOMAL SYNDROME
Synonyms	ELEJALDE SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ELEJALDE SYNDROME
prefLabel	ELEJALDE NEUROECTODERMAL MELANOLYSOSOMAL SYNDROME
notation	256710
Scope Statement	May be same entity as Griscelli syndrome type I (214450) caused by mutation in the myosin Va gene (160777) [MISCELLANEOUS] Caused by mutation in the myosin Va gene (MYO5A, 160777) [MOLECULAR BASIS] Onset in infancy or early childhood [MISCELLANEOUS] Death in childhood [MISCELLANEOUS]
OMIM MimType Value	none
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
OMIM Entry Type	0
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU003037 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU003039 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU010634 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU003038 http://purl.bioontology.org/ontology/OMIM/MTHU036896 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
MIMTYPEMEANING	Other, mainly phenotypes with suspected mendelian basis
tui	T047
cui	C3495588

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