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: rare disorder with ptosis (MONDO:0020169)
Parent Node: syndrome with synostosis or other joint formation defect (MONDO:0019715)
..Starting node ..blepharophimosis-radioulnar synostosis syndrome ()
Child Nodes:
Sister Nodes:
..acrocephalosyndactyly ()
..Al-Gazali syndrome ()
..Banki syndrome ()
..blepharophimosis-radioulnar synostosis syndrome ()
..Leri pleonosteosis ()
..multiple synostoses syndrome ()
..OSLAM syndrome ()
..proximal symphalangism (disease) ()
..radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome ()
..radioulnar synostosis-developmental delay-hypotonia syndrome ()
..radioulnar synostosis-microcephaly-scoliosis syndrome ()
..symphalangism with multiple anomalies of hands and feet ()
..tarsal-carpal coalition syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15255
Name:	blepharophimosis-radioulnar synostosis syndrome
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	blepharophimosis radioulnar synostosis; Jorgenson Lenz syndrome; Jorgenson-Lenz syndrome; mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis; ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal