Orofaciodigital syndrome III

Preferred Label : Orofaciodigital syndrome III;

Symbol : OFD3;

CISMeF acronym : OFD3;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Ofds III; Sugarman syndrome; Oral-facial-digital syndrome, type III;

Inheritance : Autosomal recessive;

Prefixed ID : %258850;

Détails

Origin ID

258850;

UMLS CUI

C0406726;

CISMeF manual mappings
- Orofacial-digital syndrome III (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Oral-facial-digital syndrome type 3 [ICD-11 More detail]
- Orofaciodigital syndrome type 3 [ORDO Disease]
- orofaciodigital syndrome 3 [MeSH concept]
- orofaciodigital syndrome 3 [MeSH Supplementary Concept]
- orofaciodigital syndrome III [DO Concept]
DO Cross reference
- orofaciodigital syndrome III [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bifid tongue [HPO term]
- Bifid uvula [HPO term]
- Bulbous nose [HPO term]
- Hyperconvex nail [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Low-set ears [HPO term]
- Microdontia [HPO term]
- Myoclonus [HPO term]
- Pectus excavatum [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Short sternum [HPO term]
- Supernumerary tooth [HPO term]
- Tongue nodules [HPO term]
ORDO concept(s)
- Orofaciodigital syndrome type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Orofacial-digital syndrome III (disorder) [SNOMED CT concept]
- Orofaciodigital syndrome type 3 [ORDO Disease]
- Sugarman brachydactyly [ORDO Disease]
- Sugarman brachydactyly [DO Concept]
- orofaciodigital syndrome 3 [MeSH Supplementary Concept]
- orofaciodigital syndrome 3 [MeSH concept]
- orofaciodigital syndrome III [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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