Disease: Trichorhinophalangeal Syndrome Type 1 And 3

Name Trichorhinophalangeal Syndrome Type 1 And 3

Synonyms -

Classification bone, developmental, genetic, skin

Phenotypes Avascular necrosis of the capital femoral epiphysis; Bulbous nose; Camptodactyly of finger; Clinodactyly of the 5th finger; Cone-shaped epiphysis; Fragile nails; Frontal bossing; High palate; Hyperlordosis; Increased number of teeth; Leukonychia; Long philtrum; Long upper lip; Macrotia; Micrognathia; Muscular hypotonia; Pectus carinatum; Protruding ear; Scoliosis; Short distal phalanx of finger; Short metacarpal; Short metatarsal; Short stature; Shortening of all phalanges of fingers; Sparse and thin eyebrow; Sparse eyelashes; Triangular face

Associated Genes TRPS1 (Withdrawn symbols: GC79, LGCR )

Mouse Orthologs Trps1 (Withdrawn symbols: AI115454, AI447310, D15Ertd586e )

Source ORPHA:77258 (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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