About: temtamy preaxial brachydactyly syndrome

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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 syndrome nodeID://b50937641
label	temtamy preaxial brachydactyly syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050814
created_by	lschriml
creation_date	2013-12-05T12:12:10Z
database_cross_reference	GARD:9679 MESH:C536958 OMIM:605282 ORDO:363417 SNOMEDCT_US_2021_09_01:777998000 UMLS_CUI:C1854466
has_exact_synonym	PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937642

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