MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: congenital anemia (MONDO:0000577)
Parent Node: developmental anomaly of metabolic origin (MONDO:0015327)
Parent Node: inborn disorder of purine metabolism (MONDO:0019236)
Parent Node: inherited aplastic anemia (MONDO:0001713)
Parent Node: orofacial clefting syndrome (MONDO:0015335)
Parent Node: polymalformative genetic syndrome with increased risk of developing cancer (MONDO:0015945)
Parent Node: pure red-cell aplasia (MONDO:0001705)
..Starting node ..Diamond-Blackfan anemia ()
Child Nodes:
........Diamond-Blackfan anemia 1 ()
........Diamond-Blackfan anemia 10 ()
........Diamond-Blackfan anemia 11 ()
........Diamond-Blackfan anemia 12 ()
........Diamond-Blackfan anemia 13 ()
........Diamond-Blackfan anemia 14 with mandibulofacial dysostosis ()
........Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ()
........diamond-blackfan anemia 16 ()
........diamond-blackfan anemia 17 ()
........Diamond-Blackfan anemia 2 ()
........Diamond-Blackfan anemia 3 ()
........Diamond-Blackfan anemia 4 ()
........Diamond-Blackfan anemia 5 ()
........Diamond-Blackfan anemia 6 ()
........Diamond-Blackfan anemia 7 ()
........Diamond-Blackfan anemia 8 ()
........Diamond-Blackfan anemia 9 ()
Sister Nodes:
..adult pure red cell aplasia ()
..Diamond-Blackfan anemia ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15253
Name:	Diamond-Blackfan anemia
Definition:	Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Aase syndrome; Aase-Smith II syndrome; anemia congenital erythroid hypoplastic; anemia Diamond Blackfan type; aregenerative anemia chronic congenital; BDS; Blackfan - Diamond syndrome; Blackfan Diamond syndrome; Blackfan-Diamond anemia; chronic constitutional pure red cell anaemia; congenital hypopl
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal