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Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome

MedGen UID:: 452798
•Concept ID:: C0920349
•: Disease or Syndrome

Definition

A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVShort Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome

Disease
- Non-Neoplastic Disorder
  - Non-Neoplastic Disorder by Special Category
    - Metabolic disease
      - DNA Repair-Deficiency Disorders
        Fanconi anemia
        Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome

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Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome

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