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hearing loss-familial salivary gland insensitivity to aldosterone syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:hearing loss-familial salivary gland insensitivity to aldosterone syndrome
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Accession:EFO:MONDO:0017921 term browser browse the term
Definition:Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive.
Synonyms:exact_synonym: Orphanet:3225;   Tungland-Bellman syndrome;   http://identifiers.org/medgen/419395;   http://identifiers.org/mesh/C536927;   http://identifiers.org/snomedct/716239006;   http://linkedlifedata.com/resource/umls/id/C2931369
 related_synonym: Tunglang savage Bellman syndrome;   hearing loss and familial salivary gland insensitivity to aldosterone;   hearing loss insensitivity to aldosterone
 alt_id: MONDO:0017921
 xref: GARD:18788;   MEDGEN:419395;   MESH:C536927;   ORDO:3225;   SCTID:716239006;   UMLS:C2931369

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