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: inherited neurodegenerative disorder (MONDO:0024237)
Parent Node: rare hereditary disease with peripheral neuropathy (MONDO:0016132)
..Starting node ..attenuated ChC)diak-Higashi syndrome ()
Child Nodes:
Sister Nodes:
..attenuated ChC)diak-Higashi syndrome ()
..Chediak-Higashi syndrome ()
..PHARC syndrome ()
..rare hereditary metabolic disease with peripheral neuropathy ()
..rare hereditary neurologic disease with peripheral neuropathy ()
..rare hereditary systemic disease with peripheral neuropathy ()
..triple-A syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18133
Name:	attenuated ChC)diak-Higashi syndrome
Definition:	Attenuated ChC)diak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	attenuated Chediak-Higashi syndrome; atypical Chediak-Higashi syndrome; atypical ChC)diak-Higashi syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal