Details of Disease

General Information of Disease (ID: DISFFHOF)

Disease Name Otospondylomegaepiphyseal dysplasia
Synonyms
Insley-Astley syndrome; Nance Sweeney chondrodysplasia; oto-spondylo-mega-epiphyseal dysplasia; OSMED syndrome; Nance-Sweeney chondrodysplasia; otospondylomegaepiphyseal dysplasia; otospondylmegaepiphyseal dysplasia; OSMED; Nance-Insley syndrome; chondrodystrophy with sensorineural deafness
Definition
An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.
Disease Hierarchy
DIS1JG9A: Spondyloepiphyseal dysplasia
DISFFHOF: Otospondylomegaepiphyseal dysplasia
Disease Identifiers
MONDO ID
MONDO_0008975
UMLS CUI
C4520892
MedGen ID
1617409
Orphanet ID
1427
SNOMED CT ID
254060000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL2A1 OT5E59C8 Limited Autosomal recessive [1]
COL11A2 OT3BQUBH Definitive Autosomal dominant [2]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.