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ermine phenotype - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:ermine phenotype
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Accession:EFO:MONDO:0009196 term browser browse the term
Definition:A rare deafness characterized by the association of bilateral sensorineural hearing loss and white hair with scattered black tufts, as well as skin areas of hyper- and hypopigmentation. Additional reported features include global developmental delay and moderate intellectual disability, growth retardation, microcephaly, hypotonia, mild dysmorphic facial features (deeply set eyes, broad nasal bridge, slight bowing of the upper lip), retinal depigmentation, anomalies of the fingers and toes, and white matter abnormalities on brain imaging.
Synonyms:exact_synonym: O'Doherty syndrome;   Orphanet:999;   http://identifiers.org/medgen/346466;   http://identifiers.org/mesh/C535508;   http://identifiers.org/mesh/C562663;   http://identifiers.org/snomedct/10170007;   http://linkedlifedata.com/resource/umls/id/C1856899;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/2048725507;   https://omim.org/entry/227010;   pigmentary disorder with hearing loss
 related_synonym: BADS;   BADS syndrome;   black locks with albinism and deafness syndrome;   black locks, oculocutaneous albinism, and deafness of the sensorineural type
 alt_id: MONDO:0009196
 xref: GARD:407;   ICD10CM:E70.3;   ICD9:270.2;   MEDGEN:346466;   MESH:C535508;   MESH:C562663;   MIM:227010;   ORDO:999;   SCTID:10170007;   UMLS:C1856899;   icd11.foundation:2048725507
 see_also: https://rarediseases.info.nih.gov/diseases/407/ermine-phenotype" xsd:anyURI {source="GARD:0000407

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