Disease browser and phenotype portal

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MSeqDR-LSDB
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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Epidermolysis Bullosa (D004820)
Parent Node: Hernias, Diaphragmatic, Congenital (D065630)
..Starting node ..Epidermolysis Bullosa With Diaphragmatic Hernia (C565588)
Child Nodes:
Sister Nodes:
..Donnai-Barrow syndrome (C536390)
..Epidermolysis Bullosa With Diaphragmatic Hernia (C565588)
..Hernia, Anterior Diaphragmatic (C564413)
..Kennerknecht Sorgo Oberhoffer syndrome (C537018)
..Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia (C538340)
..Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects (C563701)
..Saal Bulas syndrome (C537193)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3842

Name:

Epidermolysis Bullosa With Diaphragmatic Hernia

Definition:

Alternative IDs:

ParentIDs:

MESH:D004820|MESH:D065630

TreeNumbers:

C16.131.433/C565588 |C16.131.831.493/C565588 |C16.320.850.275/C565588 |C17.800.804.493/C565588 |C17.800.827.275/C565588 |C17.800.865.410/C565588 |C23.300.707.500.116/C565588

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Pathology (anatomical condition)|Skin disease

Reference:

MedGen: C565588
MeSH: C565588
OMIM: 226735;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008066	Abnormal blistering of the skin
3	HP:0000776	Congenital diaphragmatic hernia
4	HP:0003811	Neonatal death
5	HP:0007446	Palmoplantar blistering

Disease Causing ClinVar Variants