MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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

*: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: syndrome with synostosis or other joint formation defect (MONDO:0019715)
Parent Node: syndromic constitutional thrombocytopenia (MONDO:0018795)
..Starting node ..radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome ()
Child Nodes:
........radioulnar synostosis with amegakaryocytic thrombocytopenia 1 ()
........radioulnar synostosis with amegakaryocytic thrombocytopenia 2 ()
Sister Nodes:
..dense granule disease ()
..diaph1-related sensorineural hearing loss-thrombocytopenia syndrome ()
..GNE myopathy ()
..hereditary thrombocytopenia with early-onset myelofibrosis ()
..Jacobsen syndrome ()
..macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome ()
..marcothrombocytopenia with mitral valve insufficiency ()
..MYH-9 related disease ()
..platelet storage pool deficiency ()
..radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome ()
..Stormorken syndrome ()
..thrombocytopenia-absent radius syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	11555
Name:	radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Definition:	gene (7p15).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	ATRUS syndrome; radioulnar synostosis with amegakaryocytic thrombocytopenia; RUSAT
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal