Brachyolmia type 3

Preferred Label : Brachyolmia type 3;

Symbol : BCYM3;

CISMeF acronym : BCYM3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Brachyolmia, autosomal dominant; BRACHYRACHIA;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, 605427.0001).;

Prefixed ID : #113500;

Details

Origin ID

113500;

UMLS CUI

C0432227;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant brachyolmia [MedDRA LLT]
- Brachyrachia [MedDRA LLT]
- TRPV4 wt Allele [NCIt concept]
- brachyolmia [DO Concept]
CISMeF manual mappings
- Autosomal dominant brachyolmia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Autosomal dominant brachyolmia [ORDO Disease]
- Brachyolmia type 3 [ICD-11 More detail]
- brachyolmia type 3 [Disease (Nov.)]
- brachyolmia type 3 [MeSH concept]
- brachyolmia type 3 [MeSH Supplementary Concept]
DO Cross reference
- brachyolmia [DO Concept]
Genes related to phenotype
- Transient receptor potential cation channel, subfamily V, member 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Childhood-onset short-trunk short stature [HPO term]
- Clinodactyly [HPO term]
- Disproportionate short stature (short trunk), identifiable in childhood [HPO term]
- Hypermetropia [HPO term]
- Kyphosis [HPO term]
- Platyspondyly [HPO term]
- Proximal femoral metaphyseal irregularity [HPO term]
- Radial deviation of finger [HPO term]
- Scoliosis [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short neck [HPO term]
- Short trunk [HPO term]
- Spinal cord compression [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Autosomal dominant brachyolmia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant brachyolmia [ORDO Disease]
- Autosomal dominant brachyolmia [MedDRA LLT]
- Autosomal dominant brachyolmia (disorder) [SNOMED CT concept]
- Brachyolmia type 3 [ICD-11 More detail]
- Brachyrachia [MedDRA LLT]
- Brachyrachia (short spine dysplasia) (disorder) [SNOMED CT concept]
- brachyolmia type 3 [MeSH Supplementary Concept]
- brachyolmia type 3 [MeSH concept]
- brachyolmia type 3 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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