Disease: Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy

Name Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy

Synonyms GROLL-HIRSCHOWITZ SYNDROME

Classification developmental, genetic, otorhinolaryngological

Phenotypes Autosomal recessive inheritance; Fat malabsorption; Hypoproteinemia; Jejunoileal ulceration; Peripheral neuropathy; Sensorineural hearing impairment; Small bowel diverticula; Tachycardia

Associated Genes -

Mouse Orthologs -

Source OMIM:221400 (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

No mouse models associated with OMIM:221400 by orthology to a human gene.

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter