About: X-linked monogenic disease

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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	monogenic disease
equivalentClass	nodeID://b50937488
label	X-linked monogenic disease
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050735
created_by	lschriml
creation_date	2012-07-24T12:47:31Z
has_obo_namespace	disease_ontology
in_subset	DO_MGI_slim
http://purl.obolib...g/obo/IAO_0000115	A monogenic disease that has_material_basis_in muations in genes on the X chromosome.
is subClassOf of	X-linked nonsyndromic deafness non-syndromic X-linked intellectual disability Ogden syndrome X-linked hereditary ataxia syndromic X-linked intellectual disability X-linked cleft palate with or without ankyloglossia X-linked dominant disease X-linked recessive disease ovarian dysgenesis 2 reducing body myopathy 1B primary ovarian insufficiency 1 primary ovarian insufficiency 4 split hand-foot malformation 2 cataract 40 retinitis pigmentosa 2 retinitis pigmentosa 24 X-linked dilated cardiomyopathy X-linked hypoparathyroidism X-linked exudative vitreoretinopathy 2 X-linked cardiac valvular dysplasia 46,XY sex reversal 2 X-linked panhypopituitarism TARP syndrome Melnick-Needles syndrome syndromic microphthalmia 1 syndromic microphthalmia 13 Abruzzo-Erickson syndrome X-linked reticulate pigmentary disorder Meester-Loeys syndrome congenital bilateral absence of vas deferens X-linked thrombophilia due to factor IX defect McLeod syndrome X-linked epilepsy with variable learning disabilities and behavior disorders X-linked retinitis pigmentosa and sinorespiratory infections corpus callosum agenesis-abnormal genitalia syndrome X-linked lissencephaly 2 X-linked lissencephaly 1 »more»
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937492

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