Spondylometaphyseal dysplasia, sedaghatian type

Preferred Label : Spondylometaphyseal dysplasia, sedaghatian type;

Symbol : SMDS;

CISMeF acronym : SMDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Metaphyseal chondrodysplasia, congenital lethal; Sedaghatian chondrodysplasia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glutathione peroxidase-4 gene (GPX4, 138322.0001);

Prefixed ID : #250220;

Details

Origin ID

250220;

UMLS CUI

C1855229;

Currated CISMeF NLP mapping
- Spondylometaphyseal dysplasia, Sedaghatian type [ICD-11 More detail]
- Spondylometaphyseal dysplasia, Sedaghatian type [MeSH concept]
- Spondylometaphyseal dysplasia, Sedaghatian type [ORDO Disease]
- spondylometaphyseal dysplasia, sedaghatian type [MeSH Supplementary Concept]
Genes related to phenotype
- Glutathione peroxidase 4 [OMIM gene]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Abnormality of cardiac conduction [HPO term]
- Arrhythmia [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Cone-shaped metacarpal epiphyses [HPO term]
- Cupped ribs [HPO term]
- Delayed epiphyseal ossification [HPO term]
- Depressed nasal bridge [HPO term]
- Disproportionate short stature [HPO term]
- Flared iliac wing [HPO term]
- Flat acetabular roof [HPO term]
- Flattened nasal bridge [HPO term]
- Focal lissencephaly [HPO term]
- Generalized hypotonia [HPO term]
- Horizontal acetabular roof [HPO term]
- Horizontal inferior border of scapula [HPO term]
- Hypotonia [HPO term]
- Iliac crest serration [HPO term]
- Irregular tarsal bones [HPO term]
- Large posterior fontanelle [HPO term]
- Long fibula [HPO term]
- Metaphyseal cupping [HPO term]
- Metaphyseal irregularity [HPO term]
- Myocarditis [HPO term]
- Narrow chest [HPO term]
- Narrow greater sciatic notch [HPO term]
- Platyspondyly [HPO term]
- Porencephalic cyst [HPO term]
- Posteriorly rotated ears [HPO term]
- Redundant skin [HPO term]
- Redundant skin folds [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Short finger [HPO term]
- Short long bone [HPO term]
- Short metacarpal [HPO term]
- Short neck [HPO term]
- Short phalanx of finger [HPO term]
- Short ribs [HPO term]
- Short toe [HPO term]
- Spondylometaphyseal dysplasia [HPO term]
- Talipes equinovarus [HPO term]
- Turricephaly [HPO term]
- Widened greater sciatic notch [HPO term]
ORDO concept(s)
- Spondylometaphyseal dysplasia, Sedaghatian type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylometaphyseal dysplasia, Sedaghatian type [ORDO Disease]
- Spondylometaphyseal dysplasia, Sedaghatian type [MeSH concept]
- Spondylometaphyseal dysplasia, Sedaghatian type [ICD-11 More detail]
- spondylometaphyseal dysplasia Sedaghatian type [DO Concept]
- spondylometaphyseal dysplasia, sedaghatian type [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients