Orofaciodigital syndrome X

Preferred Label : Orofaciodigital syndrome X;

Symbol : OFD10;

CISMeF acronym : OFD10;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Oral-facial-digital syndrome, type X; Ofds X; Oral-facial-digital syndrome with fibular aplasia; Orofaciodigital syndrome with fibular aplasia;

Inheritance : Autosomal dominant;

Prefixed ID : 165590;

Details

Origin ID

165590;

UMLS CUI

C1833796;

CISMeF manual mappings
- Oro-facial digital syndrome type 10 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Oral-facial-digital syndrome type 10 [ICD-11 More detail]
- Orofaciodigital syndrome type 10 [ORDO Disease]
- orofaciodigital syndrome X [DO Concept]
- orofaciodigital syndrome X [MeSH concept]
- orofaciodigital syndrome X [MeSH Supplementary Concept]
DO Cross reference
- orofaciodigital syndrome X [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Coalescence of tarsal bones [HPO term]
- Depressed nasal bridge [HPO term]
- Fibular aplasia [HPO term]
- Flattened nasal bridge [HPO term]
- Hand oligodactyly [HPO term]
- Preaxial hand polydactyly [HPO term]
- Retrognathia [HPO term]
- Telecanthus [HPO term]
ORDO concept(s)
- Orofaciodigital syndrome type 10 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oro-facial digital syndrome type 10 (disorder) [SNOMED CT concept]
- Orofaciodigital syndrome type 10 [ORDO Disease]
- orofaciodigital syndrome X [MeSH Supplementary Concept]
- orofaciodigital syndrome X [MeSH concept]
- orofaciodigital syndrome X [DO Concept]
Validated automatic mappings to NTBT
- Orofaciodigital syndrome [PASCAL descriptor]
- orofaciodigital syndromes [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients