Spondylometaphyseal dysplasia, axial

Preferred Label : Spondylometaphyseal dysplasia, axial;

Symbol : SMDAX;

CISMeF acronym : SMDAX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Smd, axial; Axial smd;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the chromosome 21 open reading frame-2 gene (C21orf2, 603191.0001);

Prefixed ID : #602271;

Details

Origin ID

602271;

UMLS CUI

C1865695;

Automatic exact mappings (from CISMeF team)
- CRY2 Gene [NCIt concept]
Currated CISMeF NLP mapping
- Axial spondylometaphyseal dysplasia [ICD-11 More detail]
- Axial spondylometaphyseal dysplasia [ORDO Disease]
- Axial spondylometaphyseal dysplasia (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, axial [MeSH concept]
- axial spondylometaphyseal dysplasia [DO Concept]
- spondylometaphyseal dysplasia, axial [MeSH Supplementary Concept]
False automatic mappings
- Cryptochrome-2 [NCIt concept]
Genes related to phenotype
- Cilia- and flagella-associated protein 410 [OMIM gene]
HPO term(s)
- Anterior rib cupping [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coxa vara [HPO term]
- Mild platyspondyly [HPO term]
- Narrow greater sciatic notch [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Platyspondyly [HPO term]
- Proximal femoral metaphyseal irregularity [HPO term]
- Recurrent pneumonia [HPO term]
- Reduced sperm motility [HPO term]
- Retinal degeneration [HPO term]
- Rhizomelia [HPO term]
- Rod-cone dystrophy [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
- Spondylometaphyseal dysplasia [HPO term]
- Thoracic hypoplasia [HPO term]
ORDO concept(s)
- Axial spondylometaphyseal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Axial spondylometaphyseal dysplasia [ORDO Disease]
- Axial spondylometaphyseal dysplasia [ICD-11 More detail]
- Axial spondylometaphyseal dysplasia (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, axial [MeSH concept]
- axial spondylometaphyseal dysplasia [DO Concept]
- spondylometaphyseal dysplasia, axial [MeSH Supplementary Concept]

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