Marden-walker syndrome

Preferred Label : Marden-walker syndrome;

Symbol : MWKS;

CISMeF acronym : MWKS; MWS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MWS;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the PIEZO-type mechanosensitive ion channel component 2 gene (PIEZO2, 613629.0004);

Prefixed ID : #248700;

Détails

Origin ID

248700;

UMLS CUI

C0796033;

Automatic exact mappings (from CISMeF team)
- Milliwatt (qualifier value) [SNOMED CT concept]
- Molecular Mass [NCIt concept]
- Muckle-Wells Syndrome [NCIt concept]
- Muckle-Wells syndrome [DO Concept]
- Muckle-Wells syndrome [MeSH concept]
- NLR family pyrin domain containing 3 [ORDO Gene]
- NLRP3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Marden Walker like syndrome [MeSH concept]
- Marden Walker syndrome (disorder) [SNOMED CT concept]
- Marden-Walker syndrome [ICD-11 More detail]
- Marden-Walker syndrome [MeSH concept]
- Marden-Walker syndrome [MeSH Supplementary Concept]
- Marden-Walker syndrome [ORDO Disease]
False automatic mappings
- Malawi [NCIt concept]
Genes related to phenotype
- Piezo-type mechanosensitive ion channel component 2 [OMIM gene]
HPO term(s)
- Abnormal sternum morphology [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anteverted nares [HPO term]
- Arachnodactyly [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blepharophimosis [HPO term]
- Camptodactyly [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cleft palate [HPO term]
- Congenital contracture [HPO term]
- Cryptorchidism [HPO term]
- Dandy-Walker malformation [HPO term]
- Decreased muscle mass [HPO term]
- Dextrocardia [HPO term]
- Epicanthus [HPO term]
- Fixed facial expression [HPO term]
- Generalized hypotonia [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint contracture of the hand [HPO term]
- Kyphosis [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Narrow mouth [HPO term]
- Postnatal growth retardation [HPO term]
- Prenatal growth deficiency [HPO term]
- Primitive reflex [HPO term]
- Ptosis [HPO term]
- Pulmonary hypoplasia [HPO term]
- Pyloric stenosis [HPO term]
- Radioulnar synostosis [HPO term]
- Renal hypoplasia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Upturned nose [HPO term]
- Wide anterior fontanel [HPO term]
- Zollinger-Ellison syndrome [HPO term]
ORDO concept(s)
- Marden-Walker syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Marden Walker syndrome (disorder) [SNOMED CT concept]
- Marden-Walker syndrome [ORDO Disease]
- Marden-Walker syndrome [MeSH Supplementary Concept]
- Marden-Walker syndrome [MeSH concept]

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