Bowen-conradi syndrome

Preferred Label : Bowen-conradi syndrome;

Symbol : BWCNS;

CISMeF acronym : BWCNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bowen hutterite syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the EMG1 N1-specific pseudouridine methyltransferase gene (EMG1, 611531.0001);

Prefixed ID : #211180;

Details

Origin ID

211180;

UMLS CUI

C1859405;

Automatic exact mappings (from CISMeF team)
- Bowen-Conradi syndrome [ICD-11 More detail]
CISMeF manual mappings
- Bowen-Conradi syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Bowen Conradi syndrome [Disease (Nov.)]
- Bowen-Conradi syndrome [DO Concept]
- Bowen-Conradi syndrome [MeSH concept]
- Bowen-Conradi syndrome [MeSH Supplementary Concept]
- Bowen-Conradi syndrome [ORDO Disease]
DO Cross reference
- Bowen-Conradi syndrome [DO Concept]
Genes related to phenotype
- Emg1 n1-specific pseudouridine methyltransferase [OMIM gene]
HPO term(s)
- Abnormal joint morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Congenital vertical talus [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Prominent nose [HPO term]
- Rocker bottom foot [HPO term]
- Small for gestational age [HPO term]
ORDO concept(s)
- Bowen-Conradi syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bowen Conradi syndrome [Disease (Nov.)]
- Bowen-Conradi syndrome [ORDO Disease]
- Bowen-Conradi syndrome [MeSH Supplementary Concept]
- Bowen-Conradi syndrome [MeSH concept]
- Bowen-Conradi syndrome [DO Concept]
- Bowen-Conradi syndrome (disorder) [SNOMED CT concept]

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