Orofaciodigital syndrome V

Preferred Label : Orofaciodigital syndrome V;

Symbol : OFD5;

CISMeF acronym : OFD5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Orofaciodigital syndrome, thurston type; Thurston syndrome; Polydactyly, postaxial, with median cleft of upper lip; Ofds V; Oral-facial-digital syndrome, type V;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dead box polypeptide 59 gene (DDX59, 615464.0001);

Prefixed ID : #174300;

Détails

Origin ID

174300;

UMLS CUI

C1868118;

CISMeF manual mappings
- Oro-facial digital syndrome type 5 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Oral-facial-digital syndrome type 5 [ICD-11 More detail]
- Orofaciodigital syndrome type 5 [ORDO Disease]
- orofaciodigital syndrome 5 [MeSH concept]
- orofaciodigital syndrome 5 [MeSH Supplementary Concept]
- orofaciodigital syndrome V [DO Concept]
DO Cross reference
- orofaciodigital syndrome V [DO Concept]
Genes related to phenotype
- Dead-box helicase 59 [OMIM gene]
HPO term(s)
- Aganglionic megacolon [HPO term]
- Agenesis of corpus callosum [HPO term]
- Ankyloglossia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid tongue [HPO term]
- Bifid uvula [HPO term]
- Cleft palate [HPO term]
- Congenital onset [HPO term]
- Downslanted palpebral fissures [HPO term]
- Esodeviation [HPO term]
- Facial asymmetry [HPO term]
- Feeding difficulties [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Hamartoma of tongue [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Horseshoe kidney [HPO term]
- Hypertelorism [HPO term]
- Hypodontia [HPO term]
- Intellectual disability [HPO term]
- Lobulated tongue [HPO term]
- Low-set ears [HPO term]
- Median cleft lip [HPO term]
- Microcephaly [HPO term]
- Optic disc coloboma [HPO term]
- Overfriendliness [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Postaxial polydactyly [HPO term]
- Recurrent respiratory infections [HPO term]
- Sandal gap [HPO term]
- Scoliosis [HPO term]
- Tetralogy of Fallot [HPO term]
- Thin upper lip vermilion [HPO term]
- Unilateral cryptorchidism [HPO term]
- Unilateral ptosis [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Orofaciodigital syndrome type 5 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oro-facial digital syndrome type 5 (disorder) [SNOMED CT concept]
- Orofaciodigital syndrome type 5 [ORDO Disease]
- orofaciodigital syndrome 5 [MeSH Supplementary Concept]
- orofaciodigital syndrome 5 [MeSH concept]
- orofaciodigital syndrome V [DO Concept]
Validated automatic mappings to NTBT
- Orofaciodigital syndrome [PASCAL descriptor]
- orofaciodigital syndromes [MeSH Descriptor]

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

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