Disease browser and phenotype 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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Ectodermal Dysplasia (D004476)
Parent Node: Myopia (D009216)
Parent Node: Nystagmus, Congenital (D020417)
Parent Node: Vision Disorders (D014786)
..Starting node ..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
Child Nodes:
Sister Nodes:
..Alice in Wonderland Syndrome (D062026)
..Amblyopia (D000550) 2
..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..Blindness (D001766) 39
..Color Vision Defects (D003117) 11
..Creutzfeldt-Jakob Disease, Heidenhain Variant (C566981)
..Diplopia (D004172)
..Enhanced S-Cone Syndrome (C564835)
..Hemianopsia (D006423)
..Night Blindness (D009755) 14
..Photophobia (D020795) 2
..Scotoma (D012607) 1
..Siegler Brewer Carey syndrome (C537335)
..SPATIAL VISUALIZATION, APTITUDE FOR (OMIM:313000)
..Susac Syndrome (D055955)
..Vision, Low (D015354)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

817

Name:

Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction

Definition:

Alternative IDs:

ParentIDs:

MESH:D004476|MESH:D009216|MESH:D014786|MESH:D020417

TreeNumbers:

C10.292.562.675.300/C563394 |C10.597.751.941/C563394 |C11.590.400.300/C563394 |C11.744.636/C563394 |C11.966/C563394 |C16.131.077.350/C563394 |C16.131.831.350/C563394 |C16.320.850.250/C563394 |C16.614.643/C563394 |C17.800.804.350/C563394 |C17.800.827.250/C563394 |C2

Synonyms:

Slim Mappings:

Reference:

MedGen: C563394
MeSH: C563394
OMIM: 601075;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007536	Aplasia cutis congenita of midline scalp vertex
3	HP:0006934	Congenital nystagmus
4	HP:0011003	High myopia

Disease Causing ClinVar Variants