Disease: Nephronophthisis-Like Nephropathy 1

Name Nephronophthisis-Like Nephropathy 1

Synonyms -

Classification genetic, renal

Phenotypes Arachnoid cyst; Autosomal recessive inheritance; Chronic pancreatitis; Hypertension; Intellectual disability; Kinetic tremor; Nephronophthisis; Pancreatic cysts; Renal corticomedullary cysts; Renal tubular atrophy; Seizure; Sensorineural hearing impairment; Stage 5 chronic kidney disease; Tubular basement membrane disintegration

Associated Genes XPNPEP3 (Withdrawn symbols: APP3, ICP55, NPHPL1 )

Mouse Orthologs Xpnpep3 (Withdrawn symbols: E430012M05Rik )

Source OMIM:613159 (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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