Mondo Disease Ontology / Mondo疾病本体 - SchC6pf-Schulz-Passarge syndrome - Classes | BMICC MedPortal Appliance

Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023

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Preferred Name	SchC6pf-Schulz-Passarge syndrome
Synonyms	SChöPF-Schulz-Passarge syndrome keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis eccrine tumors with ectodermal dysplasia keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome SCHOPF-Schulz-Passarge syndrome eccrine tumors-ectodermal dysplasia palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome SSPS palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
Definitions	A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.
ID	http://purl.obolibrary.org/obo/MONDO_0009145
database_cross_reference	Orphanet:50944 OMIM:224750 SCTID:700062000 DOID:0111647 UMLS:C1857069 MESH:C565607 ICD9:758.89
definition	A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.
exactMatch	http://purl.obolibrary.org/obo/DOID_0111647 https://omim.org/entry/224750 http://purl.obolibrary.org/obo/Orphanet_50944 http://identifiers.org/snomedct/700062000 http://identifiers.org/mesh/C565607 http://linkedlifedata.com/resource/umls/id/C1857069
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_related_synonym	SChöPF-Schulz-Passarge syndrome keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis eccrine tumors with ectodermal dysplasia SCHOPF-Schulz-Passarge syndrome
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/3293
id	MONDO:0009145
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disease
label	SchC6pf-Schulz-Passarge syndrome
notation	MONDO:0009145
prefLabel	SchC6pf-Schulz-Passarge syndrome
treeView	http://purl.obolibrary.org/obo/MONDO_0100358 http://purl.obolibrary.org/obo/MONDO_0006025 http://purl.obolibrary.org/obo/MONDO_0017666
subClassOf	http://purl.obolibrary.org/obo/MONDO_0100358 http://purl.obolibrary.org/obo/MONDO_0006025 http://purl.obolibrary.org/obo/MONDO_0017666

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0009145	Experimental Factor Ontology / 实验性因素本体	LOOM
	http://purl.obolibrary.org/obo/MONDO_0009145	Experimental Factor Ontology / 实验性因素本体	SAME_URI