Disease browser and phenotype portal

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MSeqDR-LSDB
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Hello! Guest! Please Login or Register! Clinician Mode

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: Intellectual Disability (D008607)
Parent Node: Lipidoses (D008064)
..Starting node ..Cephalin Lipidosis (C565872)
Child Nodes:
Sister Nodes:
..Cardiac Lipidosis, Familial (C565884)
..Cephalin Lipidosis (C565872)
..Cholesterol Ester Storage Disease (D015217) 3
..Neuronal Ceroid-Lipofuscinoses (D009472) 9
..Neurovisceral Storage Disease with Curvilinear Bodies (C564944)
..Sjogren-Larsson Syndrome (D016111) 1
..Sphingolipidoses (D013106) 50
..Tremor of Intention, Ataxia, and Lipofuscinosis (C566038)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1911

Name:

Cephalin Lipidosis

Definition:

Alternative IDs:

ParentIDs:

MESH:D008064|MESH:D008607

TreeNumbers:

C10.597.606.643/C565872 |C16.320.565.398.641/C565872 |C18.452.584.687/C565872 |C18.452.648.398.641/C565872 |C23.888.592.604.646/C565872 |F03.550.600/C565872

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C565872
MeSH: C565872
OMIM: 212800;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0001743	Abnormality of the spleen
4	HP:0001249	Intellectual disability

Disease Causing ClinVar Variants