Disease: Acromesomelic Dysplasia, Maroteaux Type

Name Acromesomelic Dysplasia, Maroteaux Type


Classification bone, developmental, genetic

Phenotypes Acromesomelia; Autosomal recessive inheritance; Beaking of vertebral bodies; Broad finger; Broad metacarpals; Broad metatarsal; Broad phalanx; Cone-shaped epiphyses of the phalanges of the hand; Disproportionate short stature; Flared metaphysis; Frontal bossing; Hypoplasia of the radius; Joint laxity; Limited elbow extension; Long hallux; Lower thoracic kyphosis; Lumbar hyperlordosis; Ovoid vertebral bodies; Prominent forehead; Radial bowing; Redundant skin on fingers; Short metacarpal; Short metatarsal; Short nail; Short nose; Short phalanx of finger; Short toe; Thoracolumbar interpediculate narrowness; Thoracolumbar kyphosis

Associated Genes NPR2 (Withdrawn symbols: AMDM, ANPRB, ANPb, GUCY2B, NPRB )

Mouse Orthologs Npr2 (Withdrawn symbols: cn, pwe )

Source OMIM:602875 (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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