Dental anomalies and short stature

Preferred Label : Dental anomalies and short stature;

Symbol : DASS;

CISMeF acronym : DASS; STHAG6; VBS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : STHAG6; Tooth agenesis, selective, 6; Platyspondyly with amelogenesis imperfecta; Verloes-bourguignon syndrome; VBS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the latent transforming growth factor beta binding protein-3 gene (LTBP3, 602090.0001);

Prefixed ID : #601216;

Détails

Origin ID

601216;

UMLS CUI

C1832594;

Automatic exact mappings (from CISMeF team)
- tooth agenesis, selective, 6 [MeSH concept]
- tooth agenesis, selective, 6 [MeSH Supplementary Concept]
CISMeF manual mappings
- Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Brachyolmia-amelogenesis imperfecta syndrome [ORDO Disease]
- Platyspondyly - amelogenesis imperfecta [ICD-11 More detail]
- Verloes Bourguignon syndrome [MeSH concept]
- brachyolmia-amelogenesis imperfecta syndrome [DO Concept]
- verloes bourguignon syndrome [MeSH Supplementary Concept]
DO Cross reference
- brachyolmia-amelogenesis imperfecta syndrome [DO Concept]
Genes related to phenotype
- Latent transforming growth factor-beta-binding protein 3 [OMIM gene]
HPO term(s)
- Amelogenesis imperfecta [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed skeletal maturation [HPO term]
- Herniation of intervertebral nuclei [HPO term]
- Hypertrichosis [HPO term]
- Hypoplasia of the maxilla [HPO term]
- Intervertebral space narrowing [HPO term]
- Mandibular prognathia [HPO term]
- Microdontia [HPO term]
- Mitral valve prolapse [HPO term]
- Narrow vertebral interpedicular distance [HPO term]
- Oligodontia [HPO term]
- Platyspondyly [HPO term]
- Short stature [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Brachyolmia-amelogenesis imperfecta syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) [SNOMED CT concept]
- Brachyolmia-amelogenesis imperfecta syndrome [ORDO Disease]
- Brachyolmia-amelogenesis imperfecta syndrome [MedDRA LLT]
- Platyspondyly - amelogenesis imperfecta [ICD-11 More detail]
- Verloes Bourguignon syndrome [MeSH concept]
- brachyolmia-amelogenesis imperfecta syndrome [DO Concept]
- verloes bourguignon syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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