Details of Disease

General Information of Disease (ID: DISO1D8J)

Disease Name Spondyloepimetaphyseal dysplasia, sponastrime type
Synonyms
Sponastrime dysplasia; short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation; short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation; spondylar and nasal alterations with striated metaphyses; spondyloepimetaphyseal dysplasia Sponastrime type; spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; sponastrime dysplasia; spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia; spondyloepimetaphyseal dysplasia, sponastrime type; spondyloepimetaphyseal dysplasia, Sponastrime type; spondylar and nasal alterations-striated metaphyses syndrome
Definition A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.
Disease Hierarchy
DISO4L5A: Spondyloepimetaphyseal dysplasia
DISO1D8J: Spondyloepimetaphyseal dysplasia, sponastrime type
Disease Identifiers
MONDO ID
MONDO_0010068
MESH ID
C535786
UMLS CUI
C1300260
OMIM ID
271510
MedGen ID
266247
Orphanet ID
93357
SNOMED CT ID
389161008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TONSL OTBWODM9 Strong Autosomal recessive [1]
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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.