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: Nervous System Malformations (D009421)
..Starting node ..Neural Tube Defects (D009436)
Child Nodes:
........Acalvaria (C535570)
........Anencephaly (D000757) 4
........Arnold-Chiari Malformation (D001139) 1
........Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
........Encephalocele (D004677) 24
........Meningocele (D008588) 5
........Meningomyelocele (D008591) 3
........Midline Defects, X-Linked (C564054)
........Neural tube defects X-linked (C536410)
........Pentalogy of Cantrell (D058502)
........Spinal Dysraphism (D016135) 10
Sister Nodes:
..Agenesis of Corpus Callosum (D061085) 59
..Aicardi-Goutieres syndrome (C535607) 1
..Aicardi-Goutieres Syndrome 3 (C563683)
..Aicardi-Goutieres Syndrome 4 (C563681)
..Aicardi-Goutieres syndrome 5 (C535608)
..Athabaskan brainstem dysgenesis (C535397)
..Central Nervous System Cysts (D020863) 11
..Central Nervous System Vascular Malformations (D020785) 10
..Cerebellar Hypoplasia (C562568)
..Chromosome 17p13.3 Duplication Syndrome (C567705)
..Dandy-Walker Syndrome (D003616) 13
..Drachtman Weinblatt Sitarz syndrome (C535603)
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Hereditary Sensory and Motor Neuropathy (D015417) 164
..Hydranencephaly (D006832) 3
..Malformations of Cortical Development (D054220) 226
..Median-Ulnar Nerve Communications (C563598)
..Microphthalmia, Syndromic 3 (C565948)
..Microphthalmia, Syndromic 6 (C566440)
..Neural Tube Defects (D009436) 55
..Schisis association (C536633)
..Septo-Optic Dysplasia (D025962) 6
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7922

Name:

Neural Tube Defects

Definition:

Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41)

Alternative IDs:

OMIM:182940

ParentIDs:

MESH:D009421

TreeNumbers:

C10.500.680 |C16.131.666.680

Synonyms:

Slim Mappings:

Congenital abnormality|Nervous system disease

Reference:

MedGen: D009436
MeSH: D009436
OMIM: 182940;

Genes: CCL2; FUZ; VANGL1; VANGL2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002323	Anencephaly
3	HP:0008482	Asymmetry of spinal facet joints
4	HP:0000238	Hydrocephalus
5	HP:0001012	Multiple lipomas
6	HP:0002475	Myelomeningocele
7	HP:0003298	Spina bifida occulta
8	HP:0000020	Urinary incontinence

Disease Causing ClinVar Variants