Bart-pumphrey syndrome

Preferred Label : Bart-pumphrey syndrome;

Symbol : BAPS;

CISMeF acronym : BAPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Knuckle pads, leukonychia, and sensorineural deafness;

Inheritance : Autosomal dominant;

Prefixed ID : #149200;

Details

Origin ID

149200;

UMLS CUI

C0266004;

Automatic exact mappings (from CISMeF team)
- 4,4-Thiodianiline [NCIt concept]
- Bart-Pumphrey syndrome [DO Concept]
- Knuckle pads – leukonychia – sensorineural deafness [ICD-11 More detail]
- Knuckle pads, leuconychia and sensorineural deafness [MeSH concept]
Currated CISMeF NLP mapping
- Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) [SNOMED CT concept]
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome [ORDO Disease]
- knuckle pads, leuconychia and sensorineural deafness [MeSH Supplementary Concept]
DO Cross reference
- Bart-Pumphrey syndrome [DO Concept]
Genes related to phenotype
- Gap junction protein, beta-2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Deafness [HPO term]
- Hearing impairment [HPO term]
- Leukonychia [HPO term]
ORDO concept(s)
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Knuckle pads, leuconychia and sensorineural deafness [MeSH concept]
- Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) [SNOMED CT concept]
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome [ORDO Disease]
- knuckle pads, deafness and leukonychia syndrome [SNOMED Notion]
- knuckle pads, leuconychia and sensorineural deafness [MeSH Supplementary Concept]

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