MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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MSeqDR-LSDB
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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Corneal Dystrophies, Hereditary (D003317)
Parent Node: Facial Dermatoses (D005148)
Parent Node: Keratoderma, Palmoplantar (D007645)
Parent Node: Nail Diseases (D009260)
..Starting node ..Judge Misch Wright syndrome (C537692)
Child Nodes:
Sister Nodes:
..Al Gazali Hirschsprung syndrome (C535615)
..Basaran Yilmaz syndrome (C537660)
..Brachydactyly type A5 nail dysplasia (C537091)
..Candidiasis, Familial, 3 (C564361)
..Dermatopathia pigmentosa reticularis (C535374)
..Double Nail for Fifth Toe (C565090)
..ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
..Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY (OMIM:616487)
..Epidermolysis bullosa, late-onset localized junctional, with mental retardation (C535492)
..FLOTCH syndrome (C537065)
..Hooft disease (C535329)
..Judge Misch Wright syndrome (C537692)
..Keratoderma palmoplantar spastic paralysis (C536153)
..Leukonychia totalis (C535889)
..Nail dysplasia, isolated congenital (C538333)
..Nail-Patella Syndrome (D009261) 1
..Nails, Ingrown (D009263)
..Odontomicronychial dysplasia (C537741)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Onycholysis (D054039) 3
..Onychomycosis (D014009)
..Pachyonychia Congenita (D053549) 5
..Paronychia (D010304)
..Patel Bixler syndrome (C536306)
..Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
..Subungual exostoses (C535723)
..T-cell immunodeficiency, congenital alopecia and nail dystrophy (C536781)
..Toenail Dystrophy, Isolated (C564384)
..Trichoodontoonychial Dysplasia (C564760)
..TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
..Twenty-Nail Dystrophy (C562907)
..Yellow Nail Syndrome (D056684) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6571
Name:	Judge Misch Wright syndrome
Definition:
Alternative IDs: