loading...| Preferred Name | epidermolysis bullosa simplex 1A, generalized severe | |
| Synonyms |
Dowling-Meara type epidermolysis bullosa simplex epidermolysis bullosa herpetiformis, Dowling-Meara type epidermolysis bullosa simplex, Dowling-Meara type epidermolysis bullosa simplex, generalized severe epidermolysis bullosa simplex, generalised severe EBS-DM generalized severe epidermolysis bullosa simplex epidermolysis bullosa herpetiformis Dowling-Meara type EBS, generalised severe epidermolysis bullosa simplex 1A, generalized severe epidermolysis bullosa simplex Dowling-Meara type generalised severe epidermolysis bullosa simplex epidermolysis bullosa simplex, herpetiformis EBS, generalized severe EBS-gen sev EBSDM |
|
| Definitions |
A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007550 |
|
| database_cross_reference |
MEDGEN:38194 Orphanet:79396 UMLS:C0079295 DOID:0060735 OMIM:131760 SCTID:254179000 GARD:2141 ICD9:771.2 |
|
| definition |
A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. |
|
| has_exact_synonym |
generalized severe epidermolysis bullosa simplex epidermolysis bullosa herpetiformis Dowling-Meara type EBS, generalised severe epidermolysis bullosa simplex 1A, generalized severe epidermolysis bullosa simplex Dowling-Meara type generalised severe epidermolysis bullosa simplex epidermolysis bullosa simplex, herpetiformis EBS, generalized severe EBS-gen sev EBSDM |
|
| has_related_synonym |
Dowling-Meara type epidermolysis bullosa simplex epidermolysis bullosa herpetiformis, Dowling-Meara type epidermolysis bullosa simplex, Dowling-Meara type epidermolysis bullosa simplex, generalized severe epidermolysis bullosa simplex, generalised severe EBS-DM |
|
| IAO_0000233 | ||
| id |
MONDO:0007550 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
epidermolysis bullosa simplex 1A, generalized severe |
|
| notation |
MONDO:0007550 |
|
| preferred label |
epidermolysis bullosa simplex 1A, generalized severe |
|
| prefLabel |
epidermolysis bullosa simplex 1A, generalized severe |
|
| see also |
https://rarediseases.info.nih.gov/diseases/2141/epidermolysis-bullosa-simplex-dowling-meara-type |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_79396 http://identifiers.org/snomedct/254179000 http://purl.obolibrary.org/obo/DOID_0060735 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0007550 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0007550 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0007550 | DOVES | SAME_URI | |
| http://purl.bioontology.org/ontology/OMIM/131760 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007550 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007550 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007550 | DOVES | LOOM |