Cardiospondylocarpofacial syndrome

Preferred Label : Cardiospondylocarpofacial syndrome;

Symbol : CSCF;

CISMeF acronym : CSCF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mitogen-activated protein kinase kinase kinase-7 gene (MAP3K7, 602614.0005);

Prefixed ID : #157800;

Détails

Origin ID

157800;

UMLS CUI

C2931461;

CISMeF manual mappings
- Cardiospondylocarpofacial syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Cardiospondylocarpofacial Syndrome [NCIt concept]
- Cardiospondylocarpofacial syndrome [ORDO Disease]
- Forney Robinson Pascoe syndrome [MeSH concept]
- forney robinson pascoe syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Mitogen-activated protein kinase kinase kinase 7 [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Abnormality of the eye [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Carpal synostosis [HPO term]
- Conductive deafness [HPO term]
- Conductive hearing impairment [HPO term]
- Cone-shaped epiphysis [HPO term]
- Congenital sensorineural deafness [HPO term]
- Congenital sensorineural hearing impairment [HPO term]
- Decreased testicular size [HPO term]
- Delayed skeletal maturation [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Freckling [HPO term]
- Full cheeks [HPO term]
- Fused cervical vertebrae [HPO term]
- Gastroesophageal reflux [HPO term]
- Horseshoe kidney [HPO term]
- Hypertelorism [HPO term]
- Joint laxity [HPO term]
- Long philtrum [HPO term]
- Mitral regurgitation [HPO term]
- Posteriorly rotated ears [HPO term]
- Pseudoepiphyses [HPO term]
- Recurrent otitis media [HPO term]
- Rib fusion [HPO term]
- Scoliosis [HPO term]
- Short foot [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Synostosis of carpals/tarsals [HPO term]
- Tarsal synostosis [HPO term]
- Telecanthus [HPO term]
- Upslanted palpebral fissure [HPO term]
- Vesicoureteral reflux [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Cardiospondylocarpofacial syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiospondylocarpofacial Syndrome [NCIt concept]
- Cardiospondylocarpofacial syndrome [ORDO Disease]
- Cardiospondylocarpofacial syndrome (disorder) [SNOMED CT concept]
- Forney Robinson Pascoe syndrome [MeSH concept]
- forney robinson pascoe syndrome [MeSH Supplementary Concept]

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

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