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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: Chromosome Deletion (D002872)
Parent Node: Chromosome Disorders (D025063)
Parent Node: Leukemia, Myeloid, Acute (D015470)
Parent Node: Myelodysplastic Syndromes (D009190)
..Starting node ..Monosomy 7 of Bone Marrow (C565370)
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:

7382

Name:

Monosomy 7 of Bone Marrow

Definition:

Alternative IDs:

ParentIDs:

MESH:D002872|MESH:D009190|MESH:D015470|MESH:D025063

TreeNumbers:

C04.557.337.539.275/C565370 |C15.378.190.625/C565370 |C16.131.260/C565370 |C16.320.180/C565370 |C23.550.210.050.500.500/C565370

Synonyms:

Myelodysplasia and Leukemia Syndrome with Monosomy 7

Slim Mappings:

Blood disease|Cancer|Congenital abnormality|Genetic disease (inborn)|Pathology (process)

Reference:

MedGen: C565370
MeSH: C565370
OMIM: 252270;

Genes: AF8T;

Phenotypes

1	HP:0004808	Acute myeloid leukemia
2	HP:0005518	Increased mean corpuscular volume
3	HP:0002863	Myelodysplasia
4	HP:0001873	Thrombocytopenia

Disease Causing ClinVar Variants