About: Borjeson-Forssman-Lehmann syndrome

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About: Borjeson-Forssman-Lehmann syndrome Goto Sponge NotDistinct Permalink

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

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	syndromic X-linked intellectual disability X-linked recessive disease nodeID://b50937382
label	Borjeson-Forssman-Lehmann 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:0050681
database_cross_reference	GARD:936 MESH:C536575 NCI:C157122 OMIM:301900 ORDO:127 SNOMEDCT_US_2021_09_01:21634003 UMLS_CUI:C0265339
has_exact_synonym	mental retardation, epilepsy, and endocrine disorder (en) intellectual deficiency-epilepsy-endocrine disorders syndrome (en) syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type (en) BFLS (en) BORJ (en) Borjeson syndrome (en) MRXSBFL (en)
has_obo_namespace	disease_ontology
in_subset	DO_rare_slim
http://purl.obolib...g/obo/IAO_0000115	An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937383

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