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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/142340
http://purl.bioontology.org/ontology/OMIM/142340
|
|---|---|
| Preferred Name | DIAPHRAGMATIC HERNIA, CONGENITAL |
| Synonyms |
DIAPHRAGM, UNILATERAL AGENESIS OF
DIH1
DIAPHRAGMATIC HERNIA 1
DIH
CDH
HEMIDIAPHRAGM, AGENESIS OF
DIAPHRAGM, COMPLETE AGENESIS OF
DIAPHRAGMATIC DEFECT, CONGENITAL
HERNIA, CONGENITAL DIAPHRAGMATIC
HCD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
DIAPHRAGM, UNILATERAL AGENESIS OF
DIH1
DIAPHRAGMATIC HERNIA 1
DIH
CDH
HEMIDIAPHRAGM, AGENESIS OF
DIAPHRAGM, COMPLETE AGENESIS OF
DIAPHRAGMATIC DEFECT, CONGENITAL
HERNIA, CONGENITAL DIAPHRAGMATIC
HCD
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|
|---|---|
| prefLabel |
DIAPHRAGMATIC HERNIA, CONGENITAL
|
| Gene Symbol |
DIH1
HCD
|
| notation |
142340
|
| OMIM MimType Value |
perc
|
| Semantic type UMLS property | |
| OMIM Entry Type |
5
|
| type | |
| MIMTYPEMEANING |
Mendelian phenotype or locus, molecular basis unknown.
|
| Gene Locus |
15q26.1
|
| tui |
T019
T190
|
| cui |
C0235833
C1840643
C1840644
|
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