Epiphyseal chondrodysplasia, miura type

Preferred Label : Epiphyseal chondrodysplasia, miura type;

Symbol : ECDM;

CISMeF acronym : ECDM;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the natriuretic peptide receptor 2 gene (NPR2, 108961);

Laboratory abnormalities : Increased urinary cross-linked N-telopetide of type I collagen; Increased osteocalcin; Increased cross-linked C-terminal telopeptide of type I collagen; Increased bone-specific alkaline phosphatase;

Prefixed ID : #615923;

Details

Origin ID

615923;

UMLS CUI

C4014690;

Automatic exact mappings (from CISMeF team)
- NPR2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Miura type epiphyseal chondrodysplasia [DO Concept]
- Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) [SNOMED CT concept]
- Tall stature-long halluces-multiple extra-epiphyses syndrome [ORDO Disease]
DO Cross reference
- Miura type epiphyseal chondrodysplasia [DO Concept]
Genes related to phenotype
- Natriuretic peptide receptor 2 [OMIM gene]
HPO term(s)
- Arachnodactyly [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad hallux [HPO term]
- Epiphyseal dysplasia [HPO term]
- Finger clinodactyly [HPO term]
- Long hallux [HPO term]
- Osteopenia [HPO term]
- Scoliosis [HPO term]
- Tall stature [HPO term]
ORDO concept(s)
- Tall stature-long halluces-multiple extra-epiphyses syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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