About: Ellis-Van Creveld syndrome

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About: Ellis-Van Creveld syndrome Goto Sponge Distinct Permalink

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

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal recessive disease syndrome nodeID://b50948553
label	Ellis-Van Creveld syndrome
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:12714
database_cross_reference	GARD:1301 ICD10CM:Q77.6 ICD9CM:756.55 MESH:D004613 NCI:C84684 OMIM:225500 SNOMEDCT_US_2021_09_01:62501005 UMLS_CUI:C0013903
has_exact_synonym	Chondroectodermal dysplasia (en) Ellis-van Creveld syndrome (en) mesoectodermal dysplasia (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either EVC or EVC2 on chromosome 4p16.2.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50948554

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