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About:
split hand-foot malformation 6
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An Entity of Type :
owl:Class
, within Data Space :
linkeddata.uriburner.com:28898
associated with source
document(s)
New Facet based on Instances of this Class
Attributes
Values
type
Class
subClassOf
autosomal recessive disease
split hand-foot malformation
nodeID://b50942104
nodeID://b50942105
label
split hand-foot malformation 6
described by
https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id
DOID:0090026
database_cross_reference
ICD10CM:Q71.6
ICD9CM:755.58
MESH:C574275
OMIM:225300
ORDO:2440
SNOMEDCT_US_2021_09_01:81208006
UMLS_CUI:C0265554
has_exact_synonym
SHFM6
(en)
has_obo_namespace
disease_ontology
http://purl.obolib...g/obo/IAO_0000115
A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13.
is
topic
of
Human Disease Ontology
is
annotatedSource
of
nodeID://b50942109
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