Vertebral, cardiac, tracheoesophageal, renal, and limb defects

Preferred Label : Vertebral, cardiac, tracheoesophageal, renal, and limb defects;

Symbol : VCTERL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vcterl syndrome;

Prefixed ID : #619227;

Détails

Origin ID

619227;

UMLS CUI

C5543189;

Genes related to phenotype
- Ww-binding protein 11 [OMIM gene]
HPO term(s)
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad forehead [HPO term]
- Butterfly vertebrae [HPO term]
- Cafe-au-lait spot [HPO term]
- Choanal atresia [HPO term]
- Duodenal atresia [HPO term]
- Esophageal atresia [HPO term]
- Fused cervical vertebrae [HPO term]
- Global developmental delay [HPO term]
- Hypertrichosis [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Muscular ventricular septal defect [HPO term]
- Pectus excavatum [HPO term]
- Plagiocephaly [HPO term]
- Preauricular pit [HPO term]
- Preauricular skin tag [HPO term]
- Renal agenesis [HPO term]
- Retrognathia [HPO term]
- Short stature [HPO term]
- Spina bifida occulta [HPO term]
- Sprengel anomaly [HPO term]
- Submucous cleft hard palate [HPO term]
- Tracheoesophageal fistula [HPO term]
- Unilateral renal agenesis [HPO term]
- Webbed neck [HPO term]
- Wide nose [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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