Stapes ankylosis with broad thumbs and toes

Preferred Label : Stapes ankylosis with broad thumbs and toes;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Stapes ankylosis syndrome without symphalangism; Teunissen-cremers syndrome; Ankylosis of stapes, hyperopia, broad thumbs, broad first toes, and syndactyly;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the homolog of the mouse Noggin gene (NOG, 602991.0013);

Prefixed ID : #184460;

Details

Origin ID

184460;

UMLS CUI

C1866656;

Automatic exact mappings (from CISMeF team)
- Stapes ankylosis with broad thumbs and toes [ICD-11 More detail]
CISMeF manual mappings
- Stapes ankylosis with broad thumb and toe syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Stapes ankylosis with broad thumbs and toes [ORDO Disease]
- stapes ankylosis with broad thumb and toes [MeSH concept]
Genes related to phenotype
- Noggin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Broad hallux [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital stapes ankylosis [HPO term]
- Fused cervical vertebrae [HPO term]
- Hypermetropia [HPO term]
- Limited neck range of motion [HPO term]
- Long nose [HPO term]
- Low hanging columella [HPO term]
- Proximal/middle symphalangism of 5th finger [HPO term]
- Short distal phalanx of finger [HPO term]
- Stapes ankylosis [HPO term]
- Toe syndactyly [HPO term]
- Underdeveloped nasal alae [HPO term]
ORDO concept(s)
- Stapes ankylosis with broad thumbs and toes [ORDO Disease]
See also inter- (CISMeF)
- NOG-Related-Symphalangism spectrum disorder [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stapes ankylosis with broad thumb and toe syndrome (disorder) [SNOMED CT concept]
- Stapes ankylosis with broad thumbs and toes [ORDO Disease]
- stapes ankylosis with broad thumb and toes [MeSH concept]

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