Disease: Brachyolmia Type 1, Hobaek Type

Name Brachyolmia Type 1, Hobaek Type

Synonyms BRACHYOLMIA, RECESSIVE TYPE OF HOBAEK , SPONDYLODYSPLASIA WITH PURE BRACHYOLMIA

Classification unclassified

Phenotypes Abnormality of the eye; Autosomal recessive inheritance; Back pain; Disproportionate short-trunk short stature; Flat acetabular roof; Flattened proximal radial epiphyses; Intervertebral space narrowing; Kyphosis; Osteopenia; Pectus carinatum; Sclerotic foci of metaphyses of the elbow; Scoliosis; Short femoral neck; Short iliac bones; Short long bone; Short neck; Squared-off platyspondyly

Associated Genes -

Mouse Orthologs -

Source OMIM:271530 (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

No mouse models associated with OMIM:271530 by orthology to a human gene.

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter