About: split hand-foot malformation 1 with sensorineural hearing loss

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease split hand-foot malformation nodeID://b50942088 nodeID://b50942089
label	split hand-foot malformation 1 with sensorineural hearing loss
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090024
database_cross_reference	ICD10CM:Q87.2 OMIM:220600 ORDO:71271
has_exact_synonym	SHFM1D (en) congenital deafness with split hands and feet (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942093

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