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: Blindness (D001766)
Parent Node: Cataract (D002386)
Parent Node: Polycystic Kidney Diseases (D007690)
..Starting node ..Polycystic Kidney, Cataract, and Congenital Blindness (C564882)
Child Nodes:
Sister Nodes:
..Arima syndrome (C537430)
..Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome (C565867)
..Daneman Davy Mancer syndrome (C535986)
..Meckel syndrome type 1 (C536133)
..Meckel syndrome type 2 (C536131)
..Meckel syndrome type 3 (C536132)
..Meckel Syndrome, Type 4 (C567003)
..Meckel Syndrome, Type 5 (C566915)
..Meckel Syndrome, Type 6 (C567365)
..Meckel-Like Cerebrorenodigital Syndrome (C567004)
..Polycystic kidney disease, type 1 (C536326)
..Polycystic Kidney, Autosomal Dominant (D016891) 3
..Polycystic Kidney, Autosomal Recessive (D017044) 3
..Polycystic Kidney, Cataract, and Congenital Blindness (C564882)
..Potter Type III Polycystic Kidney Disease (C566792)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9059

Name:

Polycystic Kidney, Cataract, and Congenital Blindness

Definition:

Alternative IDs:

ParentIDs:

MESH:D001766|MESH:D002386|MESH:D007690

TreeNumbers:

C10.597.751.941.162/C564882 |C11.510.245/C564882 |C11.966.075/C564882 |C12.777.419.403.875/C564882 |C13.351.968.419.403.875/C564882 |C23.888.592.763.941.162/C564882

Synonyms:

Slim Mappings:

Eye disease|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C564882
MeSH: C564882
OMIM: 263100;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000518	Cataract
3	HP:0007875	Congenital blindness
4	HP:0007770	Hypoplasia of the retina
5	HP:0025492	Microcoria
6	HP:0000113	Polycystic kidney dysplasia
7	HP:0000556	Retinal dystrophy

Disease Causing ClinVar Variants