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: Chromosome Deletion (D002872)
Parent Node: Hearing Loss, Sensorineural (D006319)
Parent Node: Hyperinsulinism (D006946)
Parent Node: Intestinal Diseases (D007410)
..Starting node ..Homozygous 11p15-p14 Deletion Syndrome (C564701)
Child Nodes:
Sister Nodes:
..4-hydroxyphenylacetic aciduria (C535315)
..Cecal Diseases (D002429) 4
..Colonic Diseases (D003108) 78
..Duodenal Diseases (D004378) 20
..Dysentery (D004403) 3
..Enteritis (D004751) 4
..Enterocolitis (D004760) 3
..HIV Enteropathy (D019053)
..Homozygous 11p15-p14 Deletion Syndrome (C564701)
..Ileal Diseases (D007077) 3
..Inflammatory Bowel Diseases (D015212) 31
..Intestinal Atresia (D007409) 11
..Intestinal Diseases, Parasitic (D007411) 10
..Intestinal Fistula (D007412) 2
..Intestinal Neoplasms (D007414) 43
..Intestinal Obstruction (D007415) 31
..Intestinal Perforation (D007416)
..Intestinal Polyposis (D044483) 14
..Jejunal Diseases (D007579) 1
..Malabsorption Syndromes (D008286) 29
..Mesenteric Ischemia (D065666)
..Mesenteric Vascular Occlusion (D008641)
..Neuronal intestinal pseudoobstruction (C537394)
..Pneumatosis Cystoides Intestinalis (D011006)
..Protein-Losing Enteropathies (D011504) 1
..Rectal Diseases (D012002) 48
..Sitosterolemia (C537345)
..Vascular Hyalinosis (C564750)
..Zollinger-Ellison Syndrome (D015043)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5259

Name:

Homozygous 11p15-p14 Deletion Syndrome

Definition:

Alternative IDs:

OMIM:606528

ParentIDs:

MESH:D002872|MESH:D006319|MESH:D006946|MESH:D007410

TreeNumbers:

C06.405.469/C564701 |C09.218.458.341.887/C564701 |C10.597.751.418.341.887/C564701 |C18.452.394.968/C564701 |C23.550.210.050.500.500/C564701 |C23.888.592.763.393.341.887/C564701

Synonyms:

Hyperinsulinism, Infantile, with Enteropathy and Deafness

Slim Mappings:

Reference:

MedGen: C564701
MeSH: C564701
OMIM: 606528;

Genes: AF8T;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002242	Abnormal intestine morphology
3	HP:0008527	Congenital sensorineural hearing impairment
4	HP:0002014	Diarrhea
5	HP:0001508	Failure to thrive
6	HP:0008872	Feeding difficulties in infancy
7	HP:0002909	Generalized aminoaciduria
8	HP:0000842	Hyperinsulinemia
9	HP:0001943	Hypoglycemia
10	HP:0000124	Renal tubular dysfunction
11	HP:0002013	Vomiting

Disease Causing ClinVar Variants