Odontochondrodysplasia 1

Preferred Label : Odontochondrodysplasia 1;

Symbol : ODCD1;

CISMeF acronym : ODCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Goldblatt syndrome; Spondylometaphyseal dysplasia with dentinogenesis imperfecta; ODCD;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the thyroid hormone receptor interactor 11 gene (TRIP11, 604505.0001);

Laboratory abnormalities : Abnormal electrophoretic mobility of type II collagen;

Prefixed ID : #184260;

Détails

Origin ID

184260;

UMLS CUI

C5542277;

Automatic exact mappings (from CISMeF team)
- hypertension, renovascular [MeSH Descriptor]
Currated CISMeF NLP mapping
- Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia with dentinogenesis imperfecta [MeSH concept]
- spondylometaphyseal dysplasia with dentinogenesis imperfecta [MeSH Supplementary Concept]
Genes related to phenotype
- Thyroid hormone receptor interactor 11 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Biconvex vertebral bodies [HPO term]
- Brachydactyly [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Coronal cleft vertebrae [HPO term]
- Death in infancy [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed ossification of carpal bones [HPO term]
- Dentinogenesis imperfecta [HPO term]
- Flared iliac wing [HPO term]
- Flat acetabular roof [HPO term]
- Genu recurvatum [HPO term]
- Genu varum [HPO term]
- Horizontal acetabular roof [HPO term]
- Irregular epiphyses [HPO term]
- Joint hypermobility [HPO term]
- Long philtrum [HPO term]
- Macrocephaly [HPO term]
- Mesomelia [HPO term]
- Mesomelic short stature [HPO term]
- Metaphyseal cupping [HPO term]
- Metaphyseal widening [HPO term]
- Micromelia [HPO term]
- Mild brachydactyly [HPO term]
- Motor delay [HPO term]
- Narrow chest [HPO term]
- Narrow face [HPO term]
- Nephronophthisis [HPO term]
- Osteoporosis [HPO term]
- Pectus carinatum [HPO term]
- Platyspondyly [HPO term]
- Polycystic kidney dysplasia [HPO term]
- Prominent forehead [HPO term]
- Pulmonary hypoplasia [HPO term]
- Recurrent respiratory infections [HPO term]
- Relative macrocephaly [HPO term]
- Respiratory distress [HPO term]
- Scoliosis [HPO term]
- Short long bone [HPO term]
- Short metacarpal [HPO term]
- Short phalanx of finger [HPO term]
- Short stature [HPO term]
- Small epiphyses [HPO term]
- Small, irregular epiphyses [HPO term]
- Spondylometaphyseal dysplasia [HPO term]
ORDO concept(s)
- Odontochondrodysplasia [ORDO Disease]
See also inter- (CISMeF)
- Goldblatt hypertension [Disease (Nov.)]
- Odontochondrodysplasia [ORDO Disease]
- hypertension, goldblatt [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) [SNOMED CT concept]
- Odontochondrodysplasia [ORDO Disease]
- Spondylometaphyseal dysplasia with dentinogenesis imperfecta [MeSH concept]
- spondylometaphyseal dysplasia with dentinogenesis imperfecta [MeSH Supplementary Concept]

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

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