developmental malformations-deafness-dystonia syndrome
Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome
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developmental malformations-deafness-dystonia syndrome
Summary
developmental malformations-deafness-dystonia syndrome is a head and neck disease[1].
Key Facts
- developmental malformations-deafness-dystonia syndrome's instance of is recorded as head and neck disease[2].
- developmental malformations-deafness-dystonia syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- developmental malformations-deafness-dystonia syndrome's instance of is recorded as rare disease[4].
- developmental malformations-deafness-dystonia syndrome's instance of is recorded as class of disease[5].
- developmental malformations-deafness-dystonia syndrome's subclass of is recorded as syndromic genetic deafness[6].
- developmental malformations-deafness-dystonia syndrome's subclass of is recorded as rare disorder with dystonia and other neurologic or systemic manifestation[7].
- developmental malformations-deafness-dystonia syndrome's subclass of is recorded as multiple congenital anomalies/dysmorphic syndrome without intellectual disability[8].
- developmental malformations-deafness-dystonia syndrome's MeSH descriptor ID is recorded as C537704[9].
- developmental malformations-deafness-dystonia syndrome's OMIM ID is recorded as 607371[10].
- developmental malformations-deafness-dystonia syndrome's KEGG ID is recorded as H01255[11].
- developmental malformations-deafness-dystonia syndrome's Orphanet ID is recorded as 79107[12].
- developmental malformations-deafness-dystonia syndrome's genetic association is recorded as ACTB[13].
- developmental malformations-deafness-dystonia syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79107[14].
- developmental malformations-deafness-dystonia syndrome's UMLS CUI is recorded as C1846331[15].
- developmental malformations-deafness-dystonia syndrome's UMLS CUI is recorded as C4303590[16].
- developmental malformations-deafness-dystonia syndrome's ICD-10-CM is recorded as Q87.8[17].
- developmental malformations-deafness-dystonia syndrome's GARD rare disease ID is recorded as 9818[18].
- developmental malformations-deafness-dystonia syndrome's Mondo ID is recorded as MONDO_0011823[19].
- developmental malformations-deafness-dystonia syndrome's UniProt disease ID is recorded as DI-00412[20].