Disease: Geleophysic Dysplasia 2

Name Geleophysic Dysplasia 2

Synonyms -

Classification bone, developmental, genetic

Phenotypes Aortic valve stenosis; Autosomal dominant inheritance; Cone-shaped epiphysis; Delayed skeletal maturation; Full cheeks; Hepatomegaly; Hypertelorism; Joint stiffness; Long philtrum; Mitral regurgitation; Mitral stenosis; Mitral valve prolapse; Ovoid vertebral bodies; Pulmonary arterial hypertension; Respiratory insufficiency; Short foot; Short nose; Short palm; Short stature; Smooth philtrum; Thickened skin; Thin upper lip vermilion; Toe walking; Tricuspid stenosis

Associated Genes FBN1 (Withdrawn symbols: FBN, MASS, MFS1, OCTD, SGS, WMS )

Mouse Orthologs Fbn1 (Withdrawn symbols: AI536462, Tsk )

Source OMIM:614185 (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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