Disease: Gorlin-Chaudhry-Moss Syndrome

Name Gorlin-Chaudhry-Moss Syndrome

Synonyms -

Classification developmental, genetic, skin

Phenotypes Abnormal foot morphology; Abnormality of the metacarpal bones; Abnormality of vision; Aplasia/Hypoplasia of the nasal bone; Astigmatism; Brachycephaly; Coarse hair; Conductive hearing impairment; Congenital craniofacial dysostosis; Coronal craniosynostosis; Generalized hirsutism; Hypertelorism; Hypoplasia of the maxilla; Intellectual disability, mild; Low anterior hairline; Nystagmus; Oligodontia; Patent ductus arteriosus; Sclerocornea; Short distal phalanx of finger; Short stature; Umbilical hernia; Underdeveloped supraorbital ridges; Upper eyelid coloboma

Associated Genes SLC25A24 (Withdrawn symbols: APC1, DKFZp586G0123 )

Mouse Orthologs Slc25a24 (Withdrawn symbols: 2610016M12Rik )

Source ORPHA:2095 (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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