Disease: Dyssegmental Dysplasia, Rolland-Desbuquois Type

Name Dyssegmental Dysplasia, Rolland-Desbuquois Type


Classification bone, developmental, genetic

Phenotypes Adducted thumb; Advanced ossification of carpal bones; Autosomal recessive inheritance; Bowing of the long bones; Broad long bones; Camptodactyly; Cleft palate; Encephalocele; Equinovarus deformity; Flat face; Glaucoma; Hirsutism; Hydrocephalus; Joint contracture of the hand; Lens luxation; Limitation of joint mobility; Malar flattening; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Narrow chest; Narrow greater sacrosciatic notches; Neonatal short-limb short stature; Round face; Severe short stature; Shallow orbits; Short long bone; Short neck; Short ribs

Associated Genes -

Mouse Orthologs -

Source OMIM:224400 (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:224400 by orthology to a human gene.

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