About: T-cell immunodeficiency, congenital alopecia, and nail dystrophy

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About: T-cell immunodeficiency, congenital alopecia, and nail dystrophy 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 physical disorder severe combined immunodeficiency nodeID://b50939348 nodeID://b50939349
label	T-cell immunodeficiency, congenital alopecia, and nail dystrophy
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060769
database_cross_reference	ICD10CM:D82.8 OMIM:601705 ORDO:169095
has_exact_synonym	alymphoid cystic thymic dysgenesis (en) winged helix deficiency (en) severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939350

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