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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:autosomal dominant deafness - onychodystrophy syndrome
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Accession:EFO:MONDO:0007420 term browser browse the term
Definition:Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.
Synonyms:exact_synonym: DOID:0080720;   Orphanet:79499;   http://identifiers.org/medgen/382676;   http://linkedlifedata.com/resource/umls/id/C2675730;   https://omim.org/entry/124480
 related_synonym: DDOD;   Ddod syndrome;   Robinson Miller Bensimon syndrome;   deafness and onychodystrophy, dominant form;   deafness, congenital, and onychodystrophy, autosomal dominant;   deafness, congenital, with onychodystrophy, autosomal dominant;   familial ectodermal dysplasia with sensori-neural deafness and other anomalies
 alt_id: MONDO:0007420
 xref: DOID:0080720;   GARD:4732;   MEDGEN:382676;   MIM:124480;   ORDO:79499;   UMLS:C2675730
 see_also: https://rarediseases.info.nih.gov/diseases/4732/autosomal-dominant-deafness-onychodystrophy-syndrome" xsd:anyURI {source="GARD:0004732


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