Warburg-cinotti syndrome

Preferred Label : Warburg-cinotti syndrome;

Symbol : WRCN;

CISMeF acronym : WRCN;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the discoidin domain receptor family member-2 gene (DDR2, 191311.0006);

Prefixed ID : #618175;

Details

Origin ID

618175;

UMLS CUI

C5193019;

Genes related to phenotype
- Discoidin domain receptor family, member 2 [OMIM gene]
HPO term(s)
- Ankle flexion contracture [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Cholesteatoma [HPO term]
- Conductive hearing impairment [HPO term]
- Corneal neovascularization [HPO term]
- Decreased corneal thickness [HPO term]
- Dental crowding [HPO term]
- Elbow flexion contracture [HPO term]
- Epicanthus [HPO term]
- Erythema [HPO term]
- Flexion contracture of finger [HPO term]
- Follicular hyperkeratosis [HPO term]
- Gingival overgrowth [HPO term]
- High palate [HPO term]
- Hypoplasia of the ear cartilage [HPO term]
- Joint swelling [HPO term]
- Limbal stem cell deficiency [HPO term]
- Long face [HPO term]
- Low-set ears [HPO term]
- Midface retrusion [HPO term]
- Narrow nose [HPO term]
- Narrow palpebral fissure [HPO term]
- Osteolytic defects of the phalanges of the hand [HPO term]
- Pneumothorax [HPO term]
- Poor wound healing [HPO term]
- Posteriorly rotated ears [HPO term]
- Retinal dystrophy [HPO term]
- Short chin [HPO term]
- Sterile abscess [HPO term]
- Symblepharon [HPO term]
- Thin skin [HPO term]
- Underdeveloped nasal alae [HPO term]
- Visual impairment [HPO term]
- Wrist flexion contracture [HPO term]
See also inter- (CISMeF)
- DDR2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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