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: metabolic disease with corneal opacity (MONDO:0020279)
Parent Node: recessive X-linked ichthyosis (MONDO:0010622)
Parent Node: syndromic corneal dystrophy (MONDO:0020215)
Parent Node: syndromic dyslipidemia (MONDO:0015905)
Parent Node: X-linked ichthyosis syndrome (MONDO:0017269)
..Starting node ..syndromic recessive X-linked ichthyosis ()
Child Nodes:
Sister Nodes:
..child syndrome ()
..ichthyosis follicularis-alopecia-photophobia syndrome ()
..syndromic recessive X-linked ichthyosis ()
..X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	17264
Name:	syndromic recessive X-linked ichthyosis
Definition:	Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	recessive X-linked ichthyosis with extracutaneous manifestations; syndrome associated with recessive X-linked ichthyosis; syndrome associated with recessive X-linked ichthyosis; syndromic recessive X-linked ichthyosis; syndromic RXLI; syndromic X-linked ichthyosis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal