Mend syndrome - CISMeF

Preferred Label : Mend syndrome;

Symbol : MEND;

CISMeF acronym : MEND;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Male ebp disorder with neurologic defects;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the emopamil-binding protein gene (EBP, 300205.0013);

Laboratory abnormalities : Increased plasma 8-dihydrocholesterol and 8(9)-cholestenol;

Prefixed ID : #300960;

Details

Origin ID

300960;

UMLS CUI

C4085243;

Automatic exact mappings (from CISMeF team)
- 2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity [GO term]
- EBP wt Allele [NCIt concept]
- MEND [MeSH concept]
- MEND [MeSH Supplementary Concept]
- MEND syndrome [DO Concept]
- Mende Language [NCIt concept]
- Mende language (qualifier value) [SNOMED CT concept]
- van der hoeve halbertsma waardenburg gualdi syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- MEND syndrome [ORDO Disease]
DO Cross reference
- MEND syndrome [DO Concept]
Genes related to phenotype
- Emopamil-binding protein [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Aortic valve stenosis [HPO term]
- Cataract [HPO term]
- Cryptorchidism [HPO term]
- Dandy-Walker malformation [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hydrocephalus [HPO term]
- Hyperactivity [HPO term]
- Hypertonia [HPO term]
- Hypotonia [HPO term]
- Ichthyosis [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Long fingers [HPO term]
- Low-set ears [HPO term]
- Microretrognathia [HPO term]
- Midface retrusion [HPO term]
- Overlapping fingers [HPO term]
- Overlapping toe [HPO term]
- Polydactyly [HPO term]
- Prominent nasal bridge [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- MEND syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- MEND syndrome [ORDO Disease]
- MEND syndrome [DO Concept]

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