Orofaciodigital syndrome XI

Preferred Label : Orofaciodigital syndrome XI;

Symbol : OFD11;

CISMeF acronym : OFD11;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Oral-facial-digital syndrome, type XI; Gabrielli syndrome; Oral-facial-digital syndrome with skeletal anomalies; Ofds XI;

Inheritance : Isolated cases;

Prefixed ID : %612913;

Details

Origin ID

612913;

UMLS CUI

C2752048;

CISMeF manual mappings
- Oro-facial digital syndrome type 11 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Oral-facial-digital syndrome type 11 [ICD-11 More detail]
- Orofaciodigital syndrome type 11 [ORDO Disease]
- orofaciodigital syndrome 11 [MeSH concept]
- orofaciodigital syndrome 11 [MeSH Supplementary Concept]
- orofaciodigital syndrome XI [DO Concept]
DO Cross reference
- orofaciodigital syndrome XI [DO Concept]
HPO term(s)
- Bulbous nose [HPO term]
- Cleft palate [HPO term]
- Downslanted palpebral fissures [HPO term]
- Gastroesophageal reflux [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Kyphoscoliosis [HPO term]
- Postaxial polydactyly [HPO term]
- Seizure [HPO term]
- Sporadic [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Orofaciodigital syndrome type 11 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oro-facial digital syndrome type 11 (disorder) [SNOMED CT concept]
- Orofaciodigital syndrome type 11 [ORDO Disease]
- orofaciodigital syndrome 11 [MeSH Supplementary Concept]
- orofaciodigital syndrome 11 [MeSH concept]
- orofaciodigital syndrome XI [DO Concept]

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