Disease browser and phenotype portal

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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: Leiomyomatosis (D018231)
Parent Node: Nephritis, Hereditary (D009394)
..Starting node ..Leiomyomatosis, esophageal and vulval, with nephropathy (C537113)
Child Nodes:
Sister Nodes:
..Alport syndrome, dominant type (C536586)
..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..Alport syndrome, recessive type (C536587)
..ALPORT SYNDROME, X-LINKED (OMIM:301050)
..Alport Syndrome-Like Hereditary Nephritis (C562890)
..Daentl Towsend Siegel syndrome (C535768)
..Deafness nephritis ano rectal malformation (C535996)
..Leiomyomatosis, esophageal and vulval, with nephropathy (C537113)
..Nephropathy, Progressive, with Deafness (C563713)
..Renal Failure, Progressive, with Hypertension (C562889)
..Salcedo syndrome (C537228)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6291

Name:

Leiomyomatosis, esophageal and vulval, with nephropathy

Definition:

Alternative IDs:

OMIM:308940

ParentIDs:

MESH:D009394|MESH:D018231

TreeNumbers:

C04.557.450.590.450.465/C537113 |C12.706.742/C537113 |C12.777.419.570.620/C537113 |C13.351.875.742/C537113 |C13.351.968.419.570.620/C537113 |C16.131.939.742/C537113 |C17.300.200.517/C537113

Synonyms:

Slim Mappings:

Cancer|Congenital abnormality|Connective tissue disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C537113
MeSH: C537113
OMIM: 308940;

Genes:

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0011501	Anterior lenticonus
3	HP:0000518	Cataract
4	HP:0002019	Constipation
5	HP:0006756	Diffuse leiomyomatosis
6	HP:0002015	Dysphagia
7	HP:0002094	Dyspnea
8	HP:0001508	Failure to thrive
9	HP:0030034	Glomerular basement membrane lamellation
10	HP:0000790	Hematuria
11	HP:0001757	High-frequency sensorineural hearing impairment
12	HP:0001142	Lenticonus
13	HP:0000112	Nephropathy
14	HP:0000093	Proteinuria
15	HP:0003774	Stage 5 chronic kidney disease
16	HP:0004722	Thickened glomerular basement membrane
17	HP:0006524	Tracheobronchial leiomyomatosis
18	HP:0002013	Vomiting

Disease Causing ClinVar Variants