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, 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: Pupil Disorders (D011681)
..Starting node ..Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
Child Nodes:
Sister Nodes:
..Anisocoria (D015875)
..Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..Ectopia Lentis with Ectopia of Pupil (C563268)
..Ectopia pupillae (C536185)
..McPherson Robertson Cammarano syndrome (C538161)
..Microcoria, congenital (C537550)
..Microphthalmia, Isolated, With Corectopia (C563581)
..Miosis (D015877) 5
..Mydriasis (D015878) 1
..Pierson syndrome (C537185)
..Ptosis, Strabismus, And Ectopic Pupils (C566736)
..Tonic Pupil (D015845) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2884
Name:	Congenital Corneal Opacities, Cornea Guttata, and Corectopia
Definition:
Alternative IDs:
ParentIDs:	MESH:D003317\|MESH:D011681
TreeNumbers:	C10.597.690/C563921 \|C11.204.236/C563921 \|C11.270.162/C563921 \|C11.710/C563921 \|C16.320.290.162/C563921 \|C23.888.592.708/C563921
Synonyms:	Corneal Opacities, Congenital, with Cornea Guttata and Corectopia
Slim Mappings:	Eye disease\|Genetic disease (inborn)\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C563921 MeSH: C563921 OMIM: MSeqDR : Genes: CD96;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal