Diastrophic dysplasia

Preferred Label : Diastrophic dysplasia;

Symbol : DTD;

CISMeF acronym : DD; DTD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DD;

Included titles and symbols : Diastrophic dysplasia, broad bone-platyspondylic variant;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2, 606718.0001);

Prefixed ID : #222600;

Details

Origin ID

222600;

UMLS CUI

C0220726;

Automatic exact mappings (from CISMeF team)
- 5'-O-(4,4'-dimethoxytrityl)thymidine-3'-O-(2,4-dinitrophenyl) succinate [MeSH concept]
- 5'-O-(4,4'-dimethoxytrityl)thymidine-3'-O-(2,4-dinitrophenyl) succinate [MeSH Supplementary Concept]
- AKR1C2 wt Allele [NCIt concept]
- ATP2A2 wt Allele [NCIt concept]
- DTD [EDAM data]
- Death Diagnosis Domain [NCIt concept]
- Death diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Dentin dysplasia [ORDO Disease]
- Doctor of Divinity [NCIt concept]
- Document Type Definition [NCIt concept]
- Give of Such Doses [NCIt concept]
- NAD(P)H quinone dehydrogenase 1 [HGNC gene]
- NQO1 wt Allele [NCIt concept]
- aldo-keto reductase family 1 member C2 [ORDO Gene]
- diagnosis, differential [MeSH Descriptor]
- diastrophic dysplasia, broad Bone-Platyspondylic variant [MeSH concept]
- diastrophic dysplasia, broad Bone-Platyspondylic variant [MeSH Supplementary Concept]
- interdigital necrobacillosis [SNOMED Notion]
- supine position [MeSH Descriptor]
- symbol withdrawn DTD [HGNC gene]
Currated CISMeF NLP mapping
- Diastrophic Dysplasia [NCIt concept]
- Diastrophic dwarfism [ACR pathology]
- Diastrophic dwarfism [ACR pathology]
- Diastrophic dysplasia [PASCAL descriptor]
- Diastrophic dysplasia [ICD-10 Sub-category]
- Diastrophic dysplasia [ICD-11 Sub-sub category]
- Diastrophic dysplasia [MedDRA Preferred Term]
- Diastrophic dysplasia [MeSH concept]
- Diastrophic dysplasia [ORDO Disease]
- Diastrophic dysplasia (disorder) [SNOMED CT concept]
- Dystrophic dysplasia [ICD-10 Sub-category (who)]
- diastrophic dysplasia [DO Concept]
- diastrophic dysplasia [MeSH Supplementary Concept]
- diastrophic dysplasia [Radlex concept]
- diastrophic dysplasia [SNOMED Notion]
DO Cross reference
- diastrophic dysplasia [DO Concept]
Genes related to phenotype
- Solute carrier family 26 (sulfate transporter), member 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cervical kyphosis [HPO term]
- Cleft palate [HPO term]
- Costal cartilage calcification [HPO term]
- Cystic lesions of the pinnae [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Flat, irregular epiphyses [HPO term]
- Flattened epiphysis [HPO term]
- Glabellar hemangioma [HPO term]
- Hearing impairment [HPO term]
- Hip contracture [HPO term]
- Hitchhiker thumb [HPO term]
- Hoarse voice [HPO term]
- Hypertrophic auricular cartilage [HPO term]
- Hypoplastic cervical vertebrae [HPO term]
- Irregular epiphyses [HPO term]
- Kyphoscoliosis [HPO term]
- Laryngotracheal stenosis [HPO term]
- Neonatal cystic lesions of the pinnae [HPO term]
- Neonatal short-limb short stature [HPO term]
- Short finger [HPO term]
- Short limb dwarfism [HPO term]
- Short long bone [HPO term]
- Short-limb dwarfism identifiable at birth [HPO term]
- Spinal cord compression [HPO term]
- Talipes equinovarus [HPO term]
- Ulnar deviation of finger [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Diastrophic dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diastrophic Dysplasia [NCIt concept]
- Diastrophic dwarfism [ACR pathology]
- Diastrophic dwarfism [ACR pathology]
- Diastrophic dysplasia [MeSH concept]
- Diastrophic dysplasia [ICD-10 Sub-category]
- Diastrophic dysplasia [ORDO Disease]
- Diastrophic dysplasia [PASCAL descriptor]
- Diastrophic dysplasia [ICD-11 Sub-sub category]
- Diastrophic dysplasia [MedDRA Preferred Term]
- Diastrophic dysplasia (disorder) [SNOMED CT concept]
- diastrophic dysplasia [MeSH Supplementary Concept]
- diastrophic dysplasia [SNOMED Notion]
- diastrophic dysplasia [Radlex concept]
- diastrophic dysplasia [DO Concept]

Keyword's position in hierarchy(ies) :

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