Spondyloepimetaphyseal dysplasia, sponastrime type

Preferred Label : Spondyloepimetaphyseal dysplasia, sponastrime type;

Symbol : SEMDSP;

CISMeF acronym : SEMDSP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Short-limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation; Sponastrime dysplasia; Spondylar and nasal alterations with striated metaphyses;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Tonsoku-like DNA repair protein gene (TONSL, 604546.0001);

Prefixed ID : #271510;

Détails

Origin ID

271510;

UMLS CUI

C1300260;

CISMeF manual mappings
- Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome [NCIt concept]
Currated CISMeF NLP mapping
- SPONASTRIME dysplasia [ORDO Disease]
- Sponastrime dysplasia (disorder) [SNOMED CT concept]
- Spondylar and nasal alterations with striated metaphyses dysplasia [ICD-11 More detail]
- Spondyloepimetaphyseal Dysplasia, Sponastrime Type [NCIt concept]
- Spondyloepimetaphyseal dysplasia, sponastrime type [MeSH concept]
- spondyloepimetaphyseal dysplasia, Sponastrime type [DO Concept]
- spondyloepimetaphyseal dysplasia, sponastrime type [MeSH Supplementary Concept]
DO Cross reference
- spondyloepimetaphyseal dysplasia, Sponastrime type [DO Concept]
Genes related to phenotype
- Tonsoku-like dna repair protein [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Anterior beaking of vertebral bodies [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Biconcave vertebral bodies [HPO term]
- Bulbous nose [HPO term]
- Chiari malformation [HPO term]
- Congenital hypothyroidism [HPO term]
- Coxa vara [HPO term]
- Decreased circulating IgG level [HPO term]
- Delayed ossification of carpal bones [HPO term]
- Delayed skeletal maturation [HPO term]
- Depressed nasal bridge [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Flat capital femoral epiphysis [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Genu valgum [HPO term]
- Genu varum [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, progressive [HPO term]
- Kyphoscoliosis [HPO term]
- Laryngotracheomalacia [HPO term]
- Limited elbow extension [HPO term]
- Lumbar hyperlordosis [HPO term]
- Lumbar interpedicular narrowing [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Mesomelia [HPO term]
- Metaphyseal irregularity [HPO term]
- Metaphyseal striations [HPO term]
- Midface retrusion [HPO term]
- Neutropenia [HPO term]
- Osteopenia [HPO term]
- Platyspondyly [HPO term]
- Posterior subcapsular cataract [HPO term]
- Relative macrocephaly [HPO term]
- Short dental root [HPO term]
- Short limb dwarfism [HPO term]
- Short nose [HPO term]
- Short, upturned nose [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
- Subglottic stenosis [HPO term]
- Thoracic kyphosis [HPO term]
ORDO concept(s)
- SPONASTRIME dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- SPONASTRIME dysplasia [ORDO Disease]
- Sponastrime dysplasia (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal Dysplasia, Sponastrime Type [NCIt concept]
- Spondyloepimetaphyseal dysplasia, sponastrime type [MeSH concept]
- spondyloepimetaphyseal dysplasia, sponastrime type [MeSH Supplementary Concept]

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