Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

Bart-Pumphrey syndrome

Synonyms

knuckle pads, leuconychia and sensorineural deafness

knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Bart-Pumphrey syndrome

knuckle pads, leukonychia, and sensorineural deafness

knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome

ID

http://purl.obolibrary.org/obo/MONDO_0007866

database_cross_reference

ICD9:759.89

Orphanet:2698

OMIM:149200

DOID:0050658

MESH:C537210

SCTID:1271009

GARD:3125

exactMatch

http://purl.obolibrary.org/obo/DOID_0050658

https://omim.org/entry/149200

http://identifiers.org/snomedct/1271009

http://identifiers.org/mesh/C537210

http://purl.obolibrary.org/obo/Orphanet_2698

has_exact_synonym

Bart-Pumphrey syndrome

knuckle pads, leukonychia, and sensorineural deafness

knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome

has_related_synonym

knuckle pads, leuconychia and sensorineural deafness

knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

id

MONDO:0007866

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_disease

label

Bart-Pumphrey syndrome

notation

MONDO:0007866

preferred label

Bart-Pumphrey syndrome

prefLabel

Bart-Pumphrey syndrome

subClassOf

http://purl.obolibrary.org/obo/MONDO_0017666

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