Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	MLS syndrome
Synonyms	linear skin defects with multiple congenital anomalies
Definitions	A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities.
ID	http://purl.obolibrary.org/obo/DOID_0111875
database_cross_reference	OMIM:PS309801
definition	A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities.
has exact synonym	linear skin defects with multiple congenital anomalies
has_obo_namespace	disease_ontology
id	DOID:0111875
label	MLS syndrome
notation	DOID:0111875
prefLabel	MLS syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_225

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