Orofaciodigital syndrome ix

Preferred Label : Orofaciodigital syndrome ix;

Symbol : OFD9;

CISMeF acronym : OFD9;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Ofds ix; Oral-facial-digital syndrome, type ix; Oral-facial-digital syndrome with retinal abnormalities; Orofaciodigital syndrome with retinal abnormalities;

Inheritance : Autosomal recessive;

Prefixed ID : %258865;

Détails

Origin ID

258865;

UMLS CUI

C0796102;

CISMeF manual mappings
- Oro-facial digital syndrome type 9 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Oral-facial-digital syndrome type 9 [ICD-11 More detail]
- Orofaciodigital syndrome type 9 [ORDO Disease]
- orofaciodigital syndrome 9 [MeSH concept]
- orofaciodigital syndrome 9 [MeSH Supplementary Concept]
- orofaciodigital syndrome IX [DO Concept]
DO Cross reference
- orofaciodigital syndrome IX [DO Concept]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Accessory oral frenulum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid nasal tip [HPO term]
- Brain atrophy [HPO term]
- Broad nasal tip [HPO term]
- Camptodactyly [HPO term]
- Cleft palate [HPO term]
- Global developmental delay [HPO term]
- Hamartoma [HPO term]
- Hand polydactyly [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the epiglottis [HPO term]
- Median cleft lip [HPO term]
- Microcephaly [HPO term]
- Milia [HPO term]
- Recurrent aspiration pneumonia [HPO term]
- Recurrent aspiration pneumonia [HPO term]
- Retinal coloboma [HPO term]
- Short stature [HPO term]
- Short tibia [HPO term]
- Strabismus [HPO term]
- Telecanthus [HPO term]
- Toe syndactyly [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Orofaciodigital syndrome type 9 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oro-facial digital syndrome type 9 (disorder) [SNOMED CT concept]
- Orofaciodigital syndrome type 9 [ORDO Disease]
- orofaciodigital syndrome 9 [MeSH Supplementary Concept]
- orofaciodigital syndrome 9 [MeSH concept]
- orofaciodigital syndrome IX [DO Concept]

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

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