Kapur-toriello syndrome

Preferred Label : Kapur-toriello syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Long columella with cleft lip/palate and eye, heart, and intestinal anomalies;

Inheritance : Autosomal recessive;

Prefixed ID : %244300;

Details

Origin ID

244300;

UMLS CUI

C0796005;

Currated CISMeF NLP mapping
- Kapur Toriello syndrome [MeSH concept]
- Kapur Toriello syndrome (disorder) [SNOMED CT concept]
- Kapur-Toriello syndrome [ORDO Disease]
- kapur toriello syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the urinary system [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral single transverse palmar creases [HPO term]
- Bulbous nose [HPO term]
- Camptodactyly of finger [HPO term]
- Cataract [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly of the 5th toe [HPO term]
- Conductive hearing impairment [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Hypoplastic labia majora [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Intestinal malrotation [HPO term]
- Intrauterine growth retardation [HPO term]
- Iris coloboma [HPO term]
- Joint contracture of the hand [HPO term]
- Low hanging columella [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Overlapping fingers [HPO term]
- Pachygyria [HPO term]
- Patent ductus arteriosus [HPO term]
- Polymicrogyria [HPO term]
- Preauricular skin tag [HPO term]
- Retinal coloboma [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short thumb [HPO term]
- Single transverse palmar crease [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Kapur-Toriello syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kapur Toriello syndrome [MeSH concept]
- Kapur Toriello syndrome (disorder) [SNOMED CT concept]
- Kapur-Toriello syndrome [ORDO Disease]
- kapur toriello syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients