Diaphragmatic hernia 5, X-linked

Preferred Label : Diaphragmatic hernia 5, X-linked;

Symbol : DIH5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hernia, anterior diaphragmatic;

Inheritance : X-linked vs. multifactorial with high male:female sex ratio;

Prefixed ID : #306950;

Details

Origin ID

306950;

UMLS CUI

C1844025;

Automatic exact mappings (from CISMeF team)
- Anterior diaphragmatic hernia [PASCAL descriptor]
Broader ORDO disease(s)
- Congenital diaphragmatic hernia [ORDO Disease]
Currated CISMeF NLP mapping
- hernia, anterior diaphragmatic [MeSH concept]
- hernia, anterior diaphragmatic [MeSH Supplementary Concept]
Genes related to phenotype
- Plastin 3 [OMIM gene]
HPO term(s)
- Congenital diaphragmatic hernia [HPO term]
- Neonatal death [HPO term]
- Neonatal death frequent [HPO term]
ORDO concept(s)
- Congenital diaphragmatic hernia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- hernia, anterior diaphragmatic [MeSH Supplementary Concept]
- hernia, anterior diaphragmatic [MeSH concept]
Validated automatic mappings to NTBT
- Congenital diaphragmatic hernia [ORDO Disease]

Keyword's position in hierarchy(ies) :

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