About: Schopf-Schulz-Passarge syndrome

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About: Schopf-Schulz-Passarge 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 dominant disease ectodermal dysplasia nodeID://b50945202
label	Schopf-Schulz-Passarge syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111647
database_cross_reference	MESH:C565607 OMIM:224750 ORDO:50944 SNOMEDCT_US_2021_09_01:700062000 UMLS_CUI:C1857069
has_exact_synonym	SSPS (en) eccrine tumors-ectodermal dysplasia (en) keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome (en) palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome (en) palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in WNT10A on chromosome 2q35.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945203

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