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

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

Disease Browser
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Liver Cirrhosis (D008103)
..Starting node ..Cirrhosis, Familial (C566123)
Child Nodes:
Sister Nodes:
..Banti's syndrome (C537903)
..Cirrhosis, Cryptogenic (C562577)
..Cirrhosis, Familial (C566123)
..Cirrhosis, Familial, with Pulmonary Hypertension (C562580)
..Copper Toxicosis, Idiopathic (C565846)
..Hepatic Fibrosis, Congenital (C562378)
..HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA MANSONI INFECTION (OMIM:604201)
..Liver Cirrhosis, Alcoholic (D008104)
..Liver Cirrhosis, Biliary (D008105) 5
..Liver Cirrhosis, Experimental (D008106)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2408

Name:

Cirrhosis, Familial

Definition:

Alternative IDs:

OMIM:215600

ParentIDs:

MESH:D008103|MESH:D030342

TreeNumbers:

C06.552.630/C566123 |C16.320/C566123

Synonyms:

CIRRHOSIS, CRYPTOGENIC, INCLUDED |CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION, INCLUDED |CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO, INCLUDED |COPPER-OVERLOAD CIRRHOSIS, INCLUDED |COPPER TOXICOSIS, IDIOPATHIC, INCLUDED |ENDEMIC TYROLEAN INFANTILE CIRRH

Slim Mappings:

Digestive system disease|Genetic disease (inborn)

Reference:

MedGen: C566123
MeSH: C566123
OMIM: 215600;

Genes: KRT18; KRT8;

Phenotypes

1	HP:0003270	Abdominal distention
2	HP:0002040	Esophageal varix
3	HP:0001945	Fever
4	HP:0410067	Increased level of L-fucose in urine
5	HP:0410069	Increased level of propylene glycol in blood
6	HP:0000952	Jaundice
7	HP:0001254	Lethargy
8	HP:0001413	Micronodular cirrhosis
9	HP:0002092	Pulmonary arterial hypertension

Disease Causing ClinVar Variants