Orofaciodigital syndrome iv

Preferred Label : Orofaciodigital syndrome iv;

Symbol : OFD4;

CISMeF acronym : OFD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ofd syndrome with tibial defects; Oral-facial-digital syndrome, type iv; Mohr-majewski syndrome; Ofd syndrome, baraitser-burn type; Ofds iv; Baraitser-burn syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tectonic family, member 3 gene (TCTN3, 613847.0001);

Prefixed ID : #258860;

Détails

Origin ID

258860;

UMLS CUI

C0406727;

CISMeF manual mappings
- Orofacial-digital syndrome IV (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Oral-facial-digital syndrome type 4 [ICD-11 More detail]
- Orofaciodigital syndrome 4 [MeSH concept]
- Orofaciodigital syndrome type 4 [ORDO Disease]
- orofaciodigital syndrome 4 [MeSH Supplementary Concept]
- orofaciodigital syndrome IV [DO Concept]
DO Cross reference
- orofaciodigital syndrome IV [DO Concept]
Genes related to phenotype
- Tectonic family, member 3 [OMIM gene]
HPO term(s)
- Accessory oral frenulum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Cerebral atrophy [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Epicanthus [HPO term]
- Foot polydactyly [HPO term]
- Hamartoma of tongue [HPO term]
- Hand polydactyly [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Lobulated tongue [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Pectus excavatum [HPO term]
- Porencephalic cyst [HPO term]
- Postaxial polydactyly [HPO term]
- Short finger [HPO term]
- Short stature [HPO term]
- Short tibia [HPO term]
- Toe syndactyly [HPO term]
- Tongue nodules [HPO term]
ORDO concept(s)
- Orofaciodigital syndrome type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Orofacial-digital syndrome IV (disorder) [SNOMED CT concept]
- Orofaciodigital syndrome 4 [MeSH concept]
- Orofaciodigital syndrome type 4 [ORDO Disease]
- orofaciodigital syndrome 4 [MeSH Supplementary Concept]
- orofaciodigital syndrome IV [DO Concept]

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

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