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: autosomal recessive congenital cerebellar ataxia (MONDO:0020043)
..Starting node ..Joubert syndrome and related disorders ()
Child Nodes:
........Joubert syndrome ()
........Joubert syndrome with hepatic defect ()
........Joubert syndrome with Jeune asphyxiating thoracic dystrophy ()
........Joubert syndrome with ocular defect ()
........Joubert syndrome with oculorenal defect ()
Sister Nodes:
..autosomal recessive spinocerebellar ataxia 17 ()
..autosomal recessive spinocerebellar ataxia 2 ()
..CAMOS syndrome ()
..Cayman type cerebellar ataxia ()
..dysequilibrium syndrome ()
..Joubert syndrome and related disorders ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15369
Name:	Joubert syndrome and related disorders
Definition:	Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	JSRD
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal