Disease: Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Name Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Synonyms SHORT-LIMB DWARFISM WITH SADDLE NOSE, SPINAL ALTERATIONS, AND METAPHYSEAL STRIATION , SPONASTRIME DYSPLASIA , SPONDYLAR AND NASAL ALTERATIONS WITH STRIATED METAPHYSES

Classification bone, developmental, genetic

Phenotypes Abnormality of the dentition; Anteverted nares; Arnold-Chiari malformation; Autosomal recessive inheritance; Biconcave vertebral bodies; Bulbous nose; Congenital hypothyroidism; Coxa vara; Decreased circulating IgG level; Delayed ossification of carpal bones; Delayed skeletal maturation; Depressed nasal bridge; Disproportionate short-limb short stature; Flat capital femoral epiphysis; Frontal bossing; Genu valgum; Genu varum; Hypertelorism; Intellectual disability; Intellectual disability, progressive; Kyphoscoliosis; Laryngotracheomalacia; Limited elbow extension; Lumbar hyperlordosis; Lumbar interpedicular narrowing; Malar flattening; Mandibular prognathia; Mesomelia; Metaphyseal irregularity; Metaphyseal striations; Midface retrusion; Neutropenia; Osteopenia; Platyspondyly; Posterior subcapsular cataract; Relative macrocephaly; Short dental roots; Short nose; Spondyloepimetaphyseal dysplasia; Subglottic stenosis; Thoracic kyphosis

Associated Genes TONSL (Withdrawn symbols: IKBR, NFKBIL2 )

Mouse Orthologs Tonsl (Withdrawn symbols: 2810439M11Rik, Nfkbil2 )

Source OMIM:271510 (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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