Keratitis-ichthyosis-deafness syndrome, autosomal dominant

Preferred Label : Keratitis-ichthyosis-deafness syndrome, autosomal dominant;

Symbol : KIDAD;

CISMeF acronym : KIDAD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Kid syndrome, autosomal dominant; KID;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gap junction protein, beta 2 gene (GJB2, 121011.0020);

Neoplasia : Squamous cell carcinoma (skin and tongue);

Prefixed ID : #148210;

Détails

Origin ID

148210;

UMLS CUI

C0265336;

Currated CISMeF NLP mapping
- KID syndrome [PASCAL descriptor]
- KID syndrome [ORDO Disease]
- Keratitis ichthyosis and deafness syndrome (disorder) [SNOMED CT concept]
- Keratitis – ichthyosis – deafness syndrome [ICD-11 More detail]
- Keratitis, Ichthyosis, and Deafness (KID) Syndrome [MeSH concept]
- Keratitis-Ichthyosis-Deafness syndrome [MeSH concept]
- Keratitis-Ichthyosis-Deafness syndrome [MeSH Supplementary Concept]
- Keratitis-ichthyosis-deafness syndrome [MedDRA Preferred Term]
- Senter syndrome (disorder) [SNOMED CT concept]
- autosomal dominant keratitis-ichthyosis-deafness syndrome [DO Concept]
- keratitis ichthyosis deafness syndrome [Disease (Nov.)]
- keratitis, ichthyosis, and deafness (KID) syndrome [MeSH Supplementary Concept]
- senter syndrome [SNOMED Notion]
DO Cross reference
- autosomal dominant keratitis-ichthyosis-deafness syndrome [DO Concept]
Genes related to phenotype
- Gap junction protein, beta-2 [OMIM gene]
HPO term(s)
- Abnormality of corneal stroma [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Corneal scarring [HPO term]
- Corneal ulceration [HPO term]
- Deafness [HPO term]
- Elbow flexion contracture [HPO term]
- Furrowed tongue [HPO term]
- Hyperkeratosis [HPO term]
- Hypohidrosis [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Keratoconjunctivitis sicca [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Oral leukoplakia [HPO term]
- Pes cavus [HPO term]
- Photophobia [HPO term]
- Recurrent bacterial skin infections [HPO term]
- Recurrent corneal erosions [HPO term]
- Scant eyelashes [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Squamous cell carcinoma [HPO term]
- Trichiasis [HPO term]
ORDO concept(s)
- KID syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- KID syndrome [ORDO Disease]
- Keratitis, Ichthyosis, and Deafness (KID) Syndrome [MeSH concept]
- Senter syndrome (disorder) [SNOMED CT concept]
- keratitis, ichthyosis, and deafness (KID) syndrome [MeSH Supplementary Concept]
- senter syndrome [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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