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 hematological disorder (MONDO:0009332)
Parent Node: dysostosis of genetic origin with limb anomaly as a major feature (MONDO:0018455)
Parent Node: syndrome with limb reduction defects (MONDO:0017432)
Parent Node: thrombotic disorder due to a constitutional platelet anomaly (MONDO:0016636)
..Starting node ..hereditary thrombocytosis with transverse limb defect ()
Child Nodes:
Sister Nodes:
..familial thrombocytosis ()
..hereditary thrombocytosis with transverse limb defect ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18000
Name:	hereditary thrombocytosis with transverse limb defect
Definition:	Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	familial thrombocytosis with transverse limb defect; thrombocythemia with distal limb defects
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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