Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	orofaciodigital syndrome I
Synonyms	Papillon-Leage-Psaume syndrome
Definitions	An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.
ID	http://purl.obolibrary.org/obo/DOID_0060316
created_by	emitraka
creation_date	2015-03-09T17:15:07Z
database_cross_reference	ORDO:2750 SNOMEDCT_US_2022_09_01:1779005 OMIM:311200 MESH:D009958 ICD10CM:Q87.0 UMLS_CUI:C1510460 SNOMEDCT_US_2022_09_01:403773005 NCI:C75481 UMLS_CUI:C0026363 SNOMEDCT_US_2022_09_01:52868006 UMLS_CUI:C0029294
definition	An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.
has exact synonym	Papillon-Leage-Psaume syndrome orofaciodigital syndrome type I orofaciodigital syndrome 1
has material basis in	http://purl.obolibrary.org/obo/GENO_0000146
has_obo_namespace	disease_ontology
id	DOID:0060316
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	orofaciodigital syndrome I
notation	DOID:0060316
prefLabel	orofaciodigital syndrome I
subClassOf	http://purl.obolibrary.org/obo/DOID_0080009 http://purl.obolibrary.org/obo/DOID_4501

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/311200	Online Mendelian Inheritance in Man	LOOM