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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

Disease Browser
Parent Node: Calcinosis (D002114)
Parent Node: Intracranial Aneurysm (D002532)
Parent Node: Pulmonary Emphysema (D011656)
..Starting node ..Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification (C565905)
Child Nodes:
Sister Nodes:
..Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification (C565905)
..Congenital lobar emphysema (C535735)
..Emphysema, Hereditary Pulmonary (C565057)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1229

Name:

Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification

Definition:

Alternative IDs:

ParentIDs:

MESH:D002114|MESH:D002532|MESH:D011656

TreeNumbers:

C08.381.495.389.750/C565905 |C10.228.140.300.510.600/C565905 |C14.907.055.635/C565905 |C14.907.253.560.300/C565905 |C18.452.174.130/C565905

Synonyms:

Cerebral Aneurysm-Cirrhosis Syndrome

Slim Mappings:

Cardiovascular disease|Metabolic disease|Nervous system disease|Respiratory tract disease

Reference:

MedGen: C565905
MeSH: C565905
OMIM: 210050;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007029	Cerebral berry aneurysm
3	HP:0001394	Cirrhosis
4	HP:0002097	Emphysema
5	HP:0001263	Global developmental delay
6	HP:0001399	Hepatic failure
7	HP:0007238	Nonarteriosclerotic cerebral calcification
8	HP:0001409	Portal hypertension
9	HP:0001250	Seizure
10	HP:0004322	Short stature

Disease Causing ClinVar Variants