IVIC Syndrome
IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss
Facts
7 properties- Instance of
- rare disease, class of disease[6]
- Subclass of
- syndrome with limb reduction defects, dysostosis of genetic origin with limb anomaly as a major feature, autosomal dominant disease, syndrome, developmental defect during embryogenesis, genetic disease[7][8]
- Has phenotype
- joint stiffness, Hypoplasia of the radius, dwarfism, radioulnar synostosis, congenital malformations of the dermatoglyphs, polydactyly of a biphalangeal thumb, leukocytosis, heart arrhythmia[13][14][15][16][17][18][19][20]
- P14914
- D02307[21]
- Prevalence
- +0.000001[9]
🏷️ Also known as
en Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, and Thrombocytopenia
en Instituto Venezolano de Investigaciones Cientificas syndrome
en IVIC Syndrome
en Oculo-oto-radial syndrome
en Oculootoradial Syndrome
en OORS
de IVIC-Syndrom
fr syndrome IVIC
fr Syndrome oculo-oto-radial
🔖 Identifiers · 11
- Disease Ontology ID
- DOID:0111381
- Exact match
- purl.obolibrary.org, identifiers.org
- GARD rare disease ID
- 269
- ICD-10-CM
- Q71.8
- KEGG ID
- H02283
- MeSH descriptor ID
- C535544
- Mondo ID
- MONDO_0007836
- OMIM ID
- 147750
- Orphanet ID
- 2307
- UMLS CUI
- C1327918
- UniProt disease ID
- DI-01846
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