Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous

Preferred Label : Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous;

Symbol : JEB2C;

CISMeF acronym : LOCS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Logic syndrome; LOCS; Laryngoonychocutaneous syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : #245660;

Details

Origin ID

245660;

UMLS CUI

C1328355;

Automatic exact mappings (from CISMeF team)
- Junctional epidermolysis bullosa, LOC [ICD-11 More detail]
- LAMA3 wt Allele [NCIt concept]
- lateral occipital sulcus [UBERON concept]
Currated CISMeF NLP mapping
- Laryngo onycho cutaneous syndrome [MeSH concept]
- Laryngo-onycho-cutaneous syndrome [ORDO Disease]
- Laryngo-onycho-cutaneous syndrome [MedDRA Preferred Term]
- Laryngo-onycho-cutaneous syndrome (disorder) [SNOMED CT concept]
- Laryngo-onychocutaneous syndrome (disorder) [Inactive SNOMED CT concept]
- laryngo onycho cutaneous syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Laminin, alpha-3 [OMIM gene]
HPO term(s)
- Abnormality of the eye [HPO term]
- Amelogenesis imperfecta [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hoarse cry [HPO term]
- Infantile onset [HPO term]
- Recurrent loss of toenails and fingernails [HPO term]
- Skin ulcer [HPO term]
- Weak cry [HPO term]
ORDO concept(s)
- Laryngo-onycho-cutaneous syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Laryngo onycho cutaneous syndrome [MeSH concept]
- Laryngo onycho cutaneous syndrome [PASCAL descriptor]
- Laryngo-onycho-cutaneous syndrome [MedDRA Preferred Term]
- Laryngo-onycho-cutaneous syndrome [ORDO Disease]
- Laryngo-onycho-cutaneous syndrome (disorder) [SNOMED CT concept]
- laryngo onycho cutaneous syndrome [MeSH Supplementary Concept]

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