Atelosteogenesis, type III

Preferred Label : Atelosteogenesis, type III;

Symbol : AO3;

CISMeF acronym : AOIII; AO3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : AOIII;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the filamin B gene (FLNB, 603381.0006);

Prefixed ID : #108721;

Details

Origin ID

108721;

UMLS CUI

C3668942;

Currated CISMeF NLP mapping
- Atelosteogenesis type 3 (disorder) [SNOMED CT concept]
- Atelosteogenesis type III [ICD-11 More detail]
- Atelosteogenesis type III [ORDO Disease]
- atelosteogenesis type 3 [MeSH Supplementary Concept]
- atelosteogenesis type 3 [Disease (Nov.)]
- atelosteogenesis type 3 [MeSH concept]
DO Cross reference
- atelosteogenesis [DO Concept]
Genes related to phenotype
- Filamin b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cervical kyphosis [HPO term]
- Cervical segmentation defect [HPO term]
- Cleft palate [HPO term]
- Depressed nasal bridge [HPO term]
- Elbow dislocation [HPO term]
- Flat acetabular roof [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Hitchhiker thumb [HPO term]
- Horizontal sacrum [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Knee dislocation [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Prominent occiput [HPO term]
- Radial bowing [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Sandal gap [HPO term]
- Scoliosis [HPO term]
- Short neck [HPO term]
- Talipes equinovarus [HPO term]
- Tibial bowing [HPO term]
- Tombstone-shaped proximal phalanges [HPO term]
- Widened distal phalanges [HPO term]
- cervical spine segmentation defects [HPO term]
ORDO concept(s)
- Atelosteogenesis type III [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Atelosteogenesis type 3 (disorder) [SNOMED CT concept]
- Atelosteogenesis type III [ORDO Disease]
- atelosteogenesis type 3 [MeSH concept]
- atelosteogenesis type 3 [MeSH Supplementary Concept]
- atelosteogenesis type 3 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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