Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

orofaciodigital syndrome

Synonyms

oral-facial-digital syndrome

Definitions

A syndrome that is characterized by malformations of the face, oral cavity, and digits. Xref MGI. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_4501

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

MESH:D009958

ICD10CM:Q87.0

SNOMEDCT_US_2022_09_01:52868006

UMLS_CUI:C0029294

definition

A syndrome that is characterized by malformations of the face, oral cavity, and digits.

has exact synonym

oral-facial-digital syndrome

has_obo_namespace

disease_ontology

id

DOID:4501

label

orofaciodigital syndrome

notation

DOID:4501

prefLabel

orofaciodigital syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_225

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http://purl.obolibrary.org/obo/MONDO_0015375 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0015375 Experimental Factor Ontology / 实验性因素本体 LOOM
http://www.orpha.net/ORDO/Orphanet_140997 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/DOID_4501 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_4501 BioAssay Ontology / 生物活性分析本体 SAME_URI