King-denborough syndrome

Preferred Label : King-denborough syndrome;

Symbol : KDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : King syndrome;

Prefixed ID : #619542;

Details

Origin ID

619542;

UMLS CUI

C1840365;

Automatic exact mappings (from CISMeF team)
- King-Denborough syndrome [ORDO Disease]
Genes related to phenotype
- Ryanodine receptor 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral cryptorchidism [HPO term]
- Bilateral ptosis [HPO term]
- Breech presentation [HPO term]
- Broad nasal tip [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Childhood onset [HPO term]
- Cryptorchidism [HPO term]
- Decreased fetal movement [HPO term]
- Deep philtrum [HPO term]
- Delayed ability to walk [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise-induced myalgia [HPO term]
- Failure to thrive [HPO term]
- Fetal onset [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Joint hypermobility [HPO term]
- Juvenile onset [HPO term]
- Kyphoscoliosis [HPO term]
- Low hanging columella [HPO term]
- Low-set ears [HPO term]
- Lumbar hyperlordosis [HPO term]
- Malignant hyperthermia [HPO term]
- Midface retrusion [HPO term]
- Minicore myopathy [HPO term]
- Motor delay [HPO term]
- Muscle fiber atrophy [HPO term]
- Myopathic facies [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Scaphocephaly [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Short stature [HPO term]
- Thoracic kyphosis [HPO term]
- Type 1 muscle fiber predominance [HPO term]
- Ventricular septal defect [HPO term]
- Weakness of facial musculature [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- King-Denborough syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- King Denborough syndrome [MeSH concept]
- King Denborough syndrome [ICD-11 More detail]
- King Denborough syndrome (disorder) [SNOMED CT concept]
- King-Denborough syndrome [ORDO Disease]
- king denborough syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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