About: Frank-Ter Haar syndrome

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About: Frank-Ter Haar syndrome Goto Sponge NotDistinct Permalink

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 otopalatodigital syndrome spectrum disorder nodeID://b50945468
label	Frank-Ter Haar syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111789
database_cross_reference	GARD:5138 MESH:C537274 OMIM:249420 ORDO:137834 SNOMEDCT_US_2021_09_01:720958002 UMLS_CUI:C1855305
has_exact_synonym	megalocornea, multiple skeletal anomalies, and developmental delay Borrone dermatocardioskeletal syndrome FTHS Ter Haar syndrome autosomal recessive Melnick-Needles syndrome
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in SH3PXD2B on chromosome 5q35.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945469

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