Disease: Anauxetic Dysplasia 1

Name Anauxetic Dysplasia 1

Synonyms ANAUXETIC DYSPLASIA; ANXD , SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ANAUXETIC TYPE , SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE , SPONDYLOMETAEPIPHYSEAL DYSPLASIA, MENGER TYPE

Classification bone, developmental, genetic

Phenotypes Autosomal recessive inheritance; Brachydactyly; Cervical cord compression; Cervical subluxation; Delayed ossification of carpal bones; Flared metaphysis; Hypertelorism; Hypodontia; Hypoplastic ilia; Intellectual disability; J-shaped sella turcica; Platyspondyly; Rhizomelia; Short finger; Short neck; Short toe; Small epiphyses

Associated Genes RMRP (Withdrawn symbols: CHH, NME1, RMRPR, RRP2 )

Mouse Orthologs Rmrp (Withdrawn symbols: Rmrpr )

Source OMIM:607095 (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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