Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Schopf-Schulz-Passarge syndrome
Synonyms	keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
Definitions	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 the WNT10A gene on chromosome 2q35.
ID	http://purl.obolibrary.org/obo/DOID_0111647
database_cross_reference	OMIM:224750 SNOMEDCT_US_2022_09_01:700062000 MESH:C565607 ORDO:50944 UMLS_CUI:C1857069
definition	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 the WNT10A gene on chromosome 2q35.
has exact synonym	keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome eccrine tumors-ectodermal dysplasia palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome SSPS palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0111647
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Schopf-Schulz-Passarge syndrome
notation	DOID:0111647
prefLabel	Schopf-Schulz-Passarge syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_2121

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C565607	Medical Subject Headings	LOOM
	http://purl.bioontology.org/ontology/OMIM/224750	Online Mendelian Inheritance in Man	LOOM