Chondrodysplasia, blomstrand type

Preferred Label : Chondrodysplasia, blomstrand type;

Symbol : BOCD;

CISMeF acronym : BOCD;

Type : Phenotype, molecular basis known;

Description : Blomstrand chondrodysplasia is an autosomal recessive disorder characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation (summary by Loshkajian et al., 1997).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the parathyroid hormone receptor 1 gene (PTHR1, 168468.0003);

Prefixed ID : #215045;

Details

Origin ID

215045;

UMLS CUI

C1859148;

Currated CISMeF NLP mapping
- Blomstrand Type Chondrodysplasia [NCIt concept]
- Blomstrand lethal chondrodysplasia [ICD-11 More detail]
- Blomstrand lethal chondrodysplasia [ORDO Disease]
- Blomstrand osteochondrodysplasia [Disease (Nov.)]
- Chondrodysplasia, blomstrand type [MeSH concept]
- chondrodysplasia Blomstrand type [DO Concept]
- chondrodysplasia, blomstrand type [MeSH Supplementary Concept]
DO Cross reference
- chondrodysplasia Blomstrand type [DO Concept]
Genes related to phenotype
- Parathyroid hormone 1 receptor [OMIM gene]
HPO term(s)
- Accelerated skeletal maturation [HPO term]
- Advanced ossification of carpal bones [HPO term]
- Advanced tarsal ossification [HPO term]
- Autosomal recessive inheritance [HPO term]
- Flared metaphysis [HPO term]
- Generalized osteosclerosis [HPO term]
- Hydrops fetalis [HPO term]
- Laryngeal calcification [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Micromelia [HPO term]
- Polyhydramnios [HPO term]
- Premature birth [HPO term]
- Short ribs [HPO term]
- Squared iliac bones [HPO term]
- Stillbirth [HPO term]
- Stillborn or death shortly after birth [HPO term]
Not associated HPO term(s)
- Abnormal vertebral morphology [HPO term]
- Abnormality of the vertebral column [HPO term]
ORDO concept(s)
- Blomstrand lethal chondrodysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blomstrand Type Chondrodysplasia [NCIt concept]
- Blomstrand lethal chondrodysplasia [ORDO Disease]
- Blomstrand lethal chondrodysplasia [ICD-11 More detail]
- Blomstrand osteochondrodysplasia [Disease (Nov.)]
- Chondrodysplasia, blomstrand type [MeSH concept]
- chondrodysplasia Blomstrand type [DO Concept]
- chondrodysplasia, blomstrand type [MeSH Supplementary Concept]

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