Otopalatodigital Syndrome Type 1

Preferred Label : Otopalatodigital Syndrome Type 1;

NCIt definition : A rare, X-linked dominant inherited syndrome caused by mutations in the FLNA gene. It is characterized by hearing loss caused by malformations in the ossicles, cleft palate, wide-set eyes, prominent brow ridges, small and flat nose, and skeletal abnormalities in the fingers and toes. Males usually experience more severe symptoms than females.;

Details

Origin ID

C118845;

UMLS CUI

C0265251;

Currated CISMeF NLP mapping
- Oto-Palato-digital syndrome type 1 [MeSH Supplementary Concept]
- Oto-Palato-digital syndrome type 1 [MeSH concept]
- Oto-palato-digital syndrome, type I (disorder) [SNOMED CT concept]
- Otopalatodigital syndrome type 1 [ORDO Disease]
- Otopalatodigital syndrome type 1 [ICD-11 More detail]
- Otopalatodigital syndrome type 1 [MedDRA LLT]
- Otopalatodigital syndrome, type I [OMIM Phenotype]
- oto-palato-digital syndrome, type i [SNOMED Notion]
- otopalatodigital syndrome type 1 [DO Concept]
DO Cross reference
- otopalatodigital syndrome type 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oto-Palato-digital syndrome type 1 [MeSH Supplementary Concept]
- Oto-Palato-digital syndrome type 1 [MeSH concept]
- Oto-palato-digital syndrome, type I (disorder) [SNOMED CT concept]
- Otopalatodigital syndrome type 1 [ORDO Disease]
- Otopalatodigital syndrome type 1 [MedDRA LLT]
- Otopalatodigital syndrome, type I [OMIM Phenotype]
- oto-palato-digital syndrome, type i [SNOMED Notion]
- otopalatodigital syndrome type 1 [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- FLNA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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