Keutel syndrome

Preferred Label : Keutel syndrome;

Symbol : KTLS;

CISMeF acronym : KTLS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pulmonic stenosis, brachytelephalangism, and calcification of cartilages;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the matrix Gla protein gene (MGP, 154870.0001);

Prefixed ID : #245150;

Détails

Origin ID

245150;

UMLS CUI

C1855607;

Currated CISMeF NLP mapping
- Keutel syndrome [PASCAL descriptor]
- Keutel syndrome [ICD-11 More detail]
- Keutel syndrome [MeSH concept]
- Keutel syndrome [ORDO Disease]
- Keutel syndrome (disorder) [SNOMED CT concept]
- keutel syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Matrix gamma-carboxyglutamic acid [OMIM gene]
HPO term(s)
- Airway obstruction [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calcification of the auricular cartilage [HPO term]
- Cartilaginous ossification of larynx [HPO term]
- Cartilaginous ossification of nose [HPO term]
- Cartilaginous ossification of rib [HPO term]
- Cerebral calcification [HPO term]
- Chronic sinusitis [HPO term]
- Costal cartilage calcification [HPO term]
- Deep philtrum [HPO term]
- Depressed nasal bridge [HPO term]
- Emphysema [HPO term]
- Epiphyseal stippling [HPO term]
- Flattened nasal bridge [HPO term]
- Growth abnormality [HPO term]
- Hearing impairment [HPO term]
- Hypertension [HPO term]
- Intellectual disability, mild [HPO term]
- Large, prominent ears [HPO term]
- Long face [HPO term]
- Macrotia [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Nasal speech [HPO term]
- Peripheral pulmonary artery stenosis [HPO term]
- Premature fusion of phalangeal epiphyses [HPO term]
- Progressive cartilaginous ossification of pinnae [HPO term]
- Pulmonary artery hypoplasia [HPO term]
- Pulmonic stenosis [HPO term]
- Recurrent bronchitis [HPO term]
- Recurrent bronchitis [HPO term]
- Recurrent otitis media [HPO term]
- Seizure [HPO term]
- Short distal phalanx of finger [HPO term]
- Short hallux [HPO term]
- Short thumb [HPO term]
- Sinusitis [HPO term]
- Ventricular septal defect [HPO term]
- peripheral pulmonary stenosis [HPO term]
ORDO concept(s)
- Keutel syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Keutel syndrome [ORDO Disease]
- Keutel syndrome [MeSH concept]
- Keutel syndrome (disorder) [SNOMED CT concept]
- keutel syndrome [MeSH Supplementary Concept]

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

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