Disease browser and phenotype portal

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MSeqDR-LSDB
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Hello! Guest! Please Login or Register! Clinician Mode

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: alpha-Thalassemia (D017085)
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Myelodysplastic Syndromes (D009190)
..Starting node ..Alpha-Thalassemia Myelodysplasia Syndrome (C563023)
Child Nodes:
Sister Nodes:
..Alpha-Thalassemia Myelodysplasia Syndrome (C563023)
..Anemia, Refractory (D000753) 2
..Anemia, Sideroblastic (D000756) 8
..Hemoglobinuria, Paroxysmal (D006457) 2
..Monosomy 7 of Bone Marrow (C565370)
..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

477

Name:

Alpha-Thalassemia Myelodysplasia Syndrome

Definition:

Alternative IDs:

OMIM:300448

ParentIDs:

MESH:D009190|MESH:D017085|MESH:D040181

TreeNumbers:

C15.378.071.141.150.875.100/C563023 |C15.378.190.625/C563023 |C15.378.420.826.100/C563023 |C16.320.070.875.100/C563023 |C16.320.322/C563023 |C16.320.365.826.100/C563023

Synonyms:

ATMDS |Hemoglobin H Disease, Acquired

Slim Mappings:

Blood disease|Genetic disease (inborn)

Reference:

MedGen: C563023
MeSH: C563023
OMIM: 300448;

Genes: ATRX;

Phenotypes

1	HP:0011903	HbH hemoglobin
2	HP:0004840	Hypochromic microcytic anemia
3	HP:0002863	Myelodysplasia
4	HP:0011907	Reduced alpha/beta synthesis ratio

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_000489.4(ATRX):c.236C>G (p.Ser79Ter)	546	ATRX	Pathogenic	122445107	RCV000012507;	N	MedGen:C0585216,OMIM:300448,ORPHA:231401,SNOMED CT:307343001	X	76953077	76953077	NM_000489.4:c.236C>G	NP_000480.3:p.Ser79Ter	NC_000023.10:g.76953077G>C	OMIM Allelic Variant:300032.0021	C0585216 300448 Acquired hemoglobin H disease
NM_000489.4(ATRX):c.20+1G>A	546	ATRX	Pathogenic	587776756	RCV000012506;	N	MedGen:C0585216,OMIM:300448,ORPHA:231401,SNOMED CT:307343001	X	77041467	77041467	NM_000489.4:c.20+1G>A		X:g.77041467C>T	OMIM Allelic Variant:300032.0020	C0585216 300448 Acquired hemoglobin H disease