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: chronic primary adrenal insufficiency (MONDO:0015129)
Parent Node: metabolic disease with pigmentary retinitis (MONDO:0020281)
Parent Node: monogenic disease with epilepsy (MONDO:0015653)
Parent Node: peroxisomal disease with epilepsy (MONDO:0016398)
Parent Node: peroxisome biogenesis disorder (MONDO:0019234)
..Starting node ..neonatal adrenoleukodystrophy ()
Child Nodes:
........peroxisome biogenesis disorder 11B ()
........peroxisome biogenesis disorder 14B ()
........peroxisome biogenesis disorder 2B ()
........peroxisome biogenesis disorder 4B ()
........peroxisome biogenesis disorder 5B ()
........peroxisome biogenesis disorder 6B ()
........peroxisome biogenesis disorder 7B ()
........peroxisome biogenesis disorder 8B ()
........peroxisome biogenesis disorder type 3B ()
Sister Nodes:
..Heimler syndrome 1 ()
..Heimler syndrome 2 ()
..infantile Refsum disease ()
..neonatal adrenoleukodystrophy ()
..peroxisome biogenesis disorder 10b ()
..rhizomelic chondrodysplasia punctata type 1 ()
..Zellweger syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18598
Name:	neonatal adrenoleukodystrophy
Definition:	Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adrenoleukodystrophy autosomal neonatal form; NALD
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal