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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

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Disease Browser
Parent Node: Eye Diseases, Hereditary (D015785)
Parent Node: Retinal Diseases (D012164)
..Starting node ..Leber Congenital Amaurosis (D057130)
Child Nodes:
........Amaurosis congenita of Leber, type 1 (C536600)
........Amaurosis congenita of Leber, type 2 (C536601)
........Amaurosis congenita of Leber, type 5 (C536602)
........Amaurosis congenita of Leber, type 9 (C536603)
........Amaurosis hypertrichosis (C536604)
........Leber Congenital Amaurosis 10 (C565720)
........Leber Congenital Amaurosis 11 (C564140)
........Leber Congenital Amaurosis 12 (C565697)
........Leber Congenital Amaurosis 13 (C567197)
........Leber Congenital Amaurosis 14 (C567636)
........LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
........Leber Congenital Amaurosis 3 (C565814)
........Leber Congenital Amaurosis 4 (C565778)
........Leber Congenital Amaurosis 6 (C565327)
........Leber congenital amaurosis type 3 (C536998)
........Leber congenital amaurosis, type 4 (C536999)
........Senior Loken Syndrome (C537580)
........Senior-Loken Syndrome 3 (C564637)
........Senior-Loken Syndrome 5 (C563763)
........Senior-Loken Syndrome 6 (C565708)
Sister Nodes:
..Al Gazali Sabrinathan Nair syndrome (C535617)
..Angioid Streaks (D000793)
..Ausems Wittebol-Post Hennekam syndrome (C538272)
..Bestrophinopathy (C567518)
..BESTROPHINOPATHY, AUTOSOMAL RECESSIVE (OMIM:611809)
..Bietti Crystalline Dystrophy (C535440)
..Bothnia Retinal Dystrophy (C564392)
..Central Serous Chorioretinopathy (D056833)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Diabetic Retinopathy (D003930) 1
..Epiretinal Membrane (D019773)
..Exudative Vitreoretinopathy 4 (C566619)
..Exudative Vitreoretinopathy 5 (C567648)
..Familial Exudative Vitreoretinopathy (C580083)
..Fleck Retina, Familial Benign (C565564)
..FLOTCH syndrome (C537065)
..Fundus Albipunctatus (C562733)
..Grouped Pigmentation of the Macula (C565530)
..Hypertensive Retinopathy (D058437)
..Iris hypoplasia and glaucoma (C535538)
..Leber Congenital Amaurosis (D057130) 20
..Microcephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..MICROPHTHALMIA, ISOLATED 5 (OMIM:611040)
..Oculomelic amyoplasia (C537737)
..Rambaud Galian syndrome (C535283)
..Ramos Arroyo Clark syndrome (C535286)
..Retinal Aplasia (C566720)
..Retinal Artery Occlusion (D015356) 1
..Retinal Degeneration (D012162) 195
..Retinal Detachment (D012163) 9
..Retinal Dysplasia (D015792) 2
..RETINAL DYSPLASIA, PRIMARY (OMIM:312550)
..Retinal Hemorrhage (D012166) 2
..Retinal Neoplasms (D019572) 3
..Retinal Neovascularization (D015861)
..Retinal Nonattachment, Nonsyndromic Congenital (C565633)
..Retinal Perforations (D012167)
..Retinal Telangiectasis (D058456) 1
..Retinal Vasculitis (D031300) 1
..Retinal Vein Occlusion (D012170)
..Retinitis (D012173) 4
..Retinopathy of Prematurity (D012178)
..Roifman syndrome (C535866)
..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..Vitreoretinopathy, Proliferative (D018630) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6249
Name:	Leber Congenital Amaurosis
Definition:	A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.
Alternative IDs:
ParentIDs:	MESH:D012164\|MESH:D015785
TreeNumbers:	C11.270.516 \|C11.768.364
Synonyms:	Abiotrophies, Leber \|Abiotrophy, Leber \|Amauroses, Leber Congenital \|Amauroses, Leber's \|Amaurosis, Leber Congenital \|Amaurosis, Leber's \|Blindness, Congenital Retinal \|Blindnesses, Congenital Retinal \|Congenital Amauroses, Leber \|Congenital Amaurosis, Leber \|Cong
Slim Mappings:	Eye disease
Reference:	MedGen: D057130 MeSH: D057130 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants