Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
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- mtDNA Tool:
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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: Anodontia (D000848)
Parent Node: Ataxia (D001259)
Parent Node: Hypogonadism (D007006)
Parent Node: Leukoencephalopathies (D056784)
..Starting node ..Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism (C567313)
Child Nodes:
Sister Nodes:
..Ataxia, Spastic, 3, Autosomal Recessive (C566956)
..Brain Small Vessel Disease with Hemorrhage (C564372)
..Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (C563990)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Dementia, Vascular (D015140) 3
..Demyelinating Autoimmune Diseases, CNS (D020278) 15
..Gliosis, Familial Progressive Subcortical (C565634)
..Hereditary Central Nervous System Demyelinating Diseases (D020279) 29
..Hereditary Diffuse Leukoencephalopathy with Spheroids (C580150)
..Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism (C567313)
..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)
..LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema (C563852)
..Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (C535888)
..Leukoencephalopathy, Cystic, Without Megalencephaly (C567845)
..Leukoencephalopathy, Progressive Multifocal (D007968)
..Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
..Posterior Leukoencephalopathy Syndrome (D054038)
..Ribose 5-Phosphate Isomerase Deficiency (C563212)
..Telencephalic leukoencephalopathy (C536954)
..Vanishing White Matter Leukodystrophy with Ovarian Failure (C565836)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6386
Name:	Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
Definition:
Alternative IDs:
ParentIDs:	MESH:D000848\|MESH:D001259\|MESH:D007006\|MESH:D056784
TreeNumbers:	C07.650.800.100/C567313 \|C07.793.700.100/C567313 \|C10.228.140.695/C567313 \|C10.597.350.090/C567313 \|C16.131.850.800.100/C567313 \|C19.391.482/C567313 \|C23.888.592.350.090/C567313
Synonyms:	Ataxia, Delayed Dentition, and Hypomyelination \|Leukodystrophy, Hypomyelinating, 7 \|Leukoencephalopathy, Hypomyelinating, with Ataxia and Delayed Dentition
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Mouth disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C567313 MeSH: C567313 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants