Atelosteogenesis, type I

Preferred Label : Atelosteogenesis, type I;

Symbol : AO1;

CISMeF acronym : AOI; AO1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Giant cell chondrodysplasia; Spondylohumerofemoral hypoplasia; AOI;

Inheritance : Autosomal dominant;

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

Laboratory abnormalities : Giant cells (degenerating chondrocytes) in resting zone of epiphyseal cartilage;

Prefixed ID : #108720;

Details

Origin ID

108720;

UMLS CUI

C0265283;

Automatic exact mappings (from CISMeF team)
- Infantile apnea [ORDO Disease]
- X-linked recessive ocular albinism [ORDO Disease]
- indole-3-acetaldehyde oxidase activity [GO term]
Currated CISMeF NLP mapping
- Atelosteogenesis (disorder) [SNOMED CT concept]
- Atelosteogenesis type 1 (disorder) [SNOMED CT concept]
- Atelosteogenesis type I [ICD-11 More detail]
- Atelosteogenesis type I [ORDO Disease]
- Atelosteogenesis, type 1 [MeSH concept]
- atelosteogenesis, type 1 [MeSH Supplementary Concept]
DO Cross reference
- atelosteogenesis [DO Concept]
Genes related to phenotype
- Filamin b [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Aplasia/Hypoplasia of the ulna [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bell-shaped thorax [HPO term]
- Brachydactyly [HPO term]
- Cleft palate [HPO term]
- Club-shaped proximal femur [HPO term]
- Clubbing [HPO term]
- Congenital onset [HPO term]
- Coronal cleft vertebrae [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Distal tapering femur [HPO term]
- Elbow dislocation [HPO term]
- Encephalocele [HPO term]
- Fibular aplasia [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Fused cervical vertebrae [HPO term]
- Genu varus [HPO term]
- Hypertelorism [HPO term]
- Isolated cases [HPO term]
- Knee dislocation [HPO term]
- Laryngeal stenosis [HPO term]
- Limb undergrowth [HPO term]
- Long clavicles [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Multinucleated giant chondrocytes in epiphyseal cartilage [HPO term]
- Narrow chest [HPO term]
- Neonatal death [HPO term]
- Polyhydramnios [HPO term]
- Premature birth [HPO term]
- Prominent globes [HPO term]
- Proptosis [HPO term]
- Protuberant abdomen [HPO term]
- Radial bowing [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Short femur [HPO term]
- Short finger [HPO term]
- Short humeri [HPO term]
- Short humerus [HPO term]
- Short limb dwarfism [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Sporadic [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Talipes [HPO term]
- Talipes equinovarus [HPO term]
- Thoracic hypoplasia [HPO term]
- Thoracic platyspondyly [HPO term]
- Tibial bowing [HPO term]
- Vertebral hypoplasia [HPO term]
ORDO concept(s)
- Atelosteogenesis type I [ORDO Disease]
See also inter- (CISMeF)
- atelosteogenesis type 3 [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Atelosteogenesis (disorder) [SNOMED CT concept]
- Atelosteogenesis type 1 (disorder) [SNOMED CT concept]
- Atelosteogenesis type I [ORDO Disease]
- Atelosteogenesis, type 1 [MeSH concept]
- atelosteogenesis [SNOMED Notion]
- atelosteogenesis [DO Concept]
- atelosteogenesis [Disease (Nov.)]
- atelosteogenesis type 1 [Disease (Nov.)]
- atelosteogenesis, type 1 [MeSH Supplementary Concept]

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