Disease: Atelosteogenesis, Type I

Name Atelosteogenesis, Type I

Synonyms AOI , GIANT CELL CHONDRODYSPLASIA , SPONDYLOHUMEROFEMORAL HYPOPLASIA

Classification bone, developmental, genetic, otorhinolaryngological, sucking/swallowing, surgical maxillo-facial

Phenotypes 11 pairs of ribs; Aplasia/Hypoplasia of the ulna; Autosomal dominant inheritance; Brachydactyly; Cleft palate; Club-shaped proximal femur; Clubbing; Coronal cleft vertebrae; Cryptorchidism; Depressed nasal bridge; Distal tapering femur; Elbow dislocation; Encephalocele; Fibular aplasia; Frontal bossing; Fused cervical vertebrae; Laryngeal stenosis; Malar flattening; Micrognathia; Midface retrusion; Multinucleated giant chondrocytes in epiphyseal cartilage; Narrow chest; Neonatal death; Polyhydramnios; Premature birth; Proptosis; Radial bowing; Rhizomelia; Short femur; Short humerus; Short metacarpal; Short metatarsal; Short neck; Short nose; Sporadic; Stillbirth; Talipes equinovarus; Thoracic platyspondyly; Tibial bowing

Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP )

Mouse Orthologs Flnb (Withdrawn symbols: AL024016 )

Source OMIM:108720 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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