Orofaciodigital syndrome II

Preferred Label : Orofaciodigital syndrome II;

Symbol : OFD2;

CISMeF acronym : OFD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Oral-facial-digital syndrome, type II; Ofds II; Mohr syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : #252100;

Details

Origin ID

252100;

UMLS CUI

C0026363;

Automatic exact mappings (from CISMeF team)
- Mohr syndrome [MedDRA LLT]
- Oral-facial-digital syndrome type II [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Mohr syndrome [PASCAL descriptor]
- Mohr syndrome (disorder) [SNOMED CT concept]
- Oral-facial-digital syndrome type 2 [ICD-11 More detail]
- Oral-facial-digital syndrome, type 2 [MeSH concept]
- Orofaciodigital syndrome type 2 [ORDO Disease]
- mohr syndrome [MeSH concept]
- mohr syndrome [SNOMED Notion]
- oral-facial-digital syndrome, type 2 [MeSH Supplementary Concept]
Genes related to phenotype
- Nima-related kinase 1 [OMIM gene]
HPO term(s)
- Accessory oral frenulum [HPO term]
- Agenesis of central incisor [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid nasal tip [HPO term]
- Bifid tongue [HPO term]
- Bilateral postaxial polydactyly [HPO term]
- Brachydactyly [HPO term]
- Broad nasal tip [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Conductive hearing impairment [HPO term]
- Depressed nasal bridge [HPO term]
- Flared metaphysis [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hydrocephalus [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Lobulated tongue [HPO term]
- Low nasal bridge [HPO term]
- Malar flattening [HPO term]
- Median cleft lip [HPO term]
- Metaphyseal irregularity [HPO term]
- Micrognathia [HPO term]
- Partial duplication of the phalanges of the hallux [HPO term]
- Pectus excavatum [HPO term]
- Porencephalic cyst [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Preaxial foot polydactyly [HPO term]
- Preaxial hand polydactyly [HPO term]
- Scoliosis [HPO term]
- Short palm [HPO term]
- Short stature [HPO term]
- Syndactyly [HPO term]
- Telecanthus [HPO term]
- Tongue nodules [HPO term]
- Wormian bones [HPO term]
ORDO concept(s)
- Orofaciodigital syndrome type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mohr syndrome [PASCAL descriptor]
- Mohr syndrome [MedDRA LLT]
- Mohr syndrome (disorder) [SNOMED CT concept]
- Oral-facial-digital syndrome type II [MedDRA Preferred Term]
- mohr syndrome [SNOMED Notion]
- mohr syndrome [MeSH concept]
Validated automatic mappings to NTBT
- Orofaciodigital syndrome [PASCAL descriptor]
- orofaciodigital syndromes [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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