Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

transient bullous dermolysis of the newborn

Synonyms

DEB-BDN

Definitions

An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31.

ID

http://purl.obolibrary.org/obo/DOID_0111345

database_cross_reference

SNOMEDCT_US_2022_09_01:723553000

GARD:10010

MESH:C536979

ORDO:79411

UMLS_CUI:C1851573

OMIM:131705

definition

An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31.

has exact synonym

DEB-BDN

DEB, bullous dermolysis of the newborn

has material basis in

http://purl.obolibrary.org/obo/GENO_0000148

has_obo_namespace

disease_ontology

id

DOID:0111345

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

transient bullous dermolysis of the newborn

notation

DOID:0111345

prefLabel

transient bullous dermolysis of the newborn

subClassOf

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_4959

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http://purl.bioontology.org/ontology/OMIM/131705 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/C536979 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/MONDO_0007548 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0007548 Experimental Factor Ontology / 实验性因素本体 LOOM