Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

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

Disease Browser
Parent Node: Hypopigmentation (D017496)
Parent Node: Incontinentia Pigmenti (D007184)
..Starting node ..HYPOMELANOSIS OF ITO (OMIM:300337)
Child Nodes:
Sister Nodes:
..HYPOMELANOSIS OF ITO (OMIM:300337)
..Incontinentia pigmenti, familial male-lethal type (C531716)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5588

Name:

HYPOMELANOSIS OF ITO

Definition:

Alternative IDs:

ParentIDs:

MESH:D007184|MESH:D017496

TreeNumbers:

C16.131.077.445/300337 |C16.131.831.580/300337 |C16.320.850.420/300337 |C17.800.621.440/300337 |C17.800.621.497/300337 |C17.800.804.580/300337 |C17.800.827.420/300337

Synonyms:

HMI |INCONTINENTIA PIGMENTI ACHROMIANS |INCONTINENTIA PIGMENTI, TYPE I, FORMERLY |IP1, FORMERLY |IPA |ITO |ITO HYPOMELANOSIS

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Skin disease

Reference:

MedGen: 300337
MeSH: 300337
OMIM: 300337;

Genes:

Phenotypes

1	HP:0001939	Abnormality of metabolism/homeostasis
2	HP:0001596	Alopecia
3	HP:0000518	Cataract
4	HP:0002059	Cerebral atrophy
5	HP:0030084	Clinodactyly
6	HP:0000280	Coarse facial features
7	HP:0000286	Epicanthus
8	HP:0001161	Hand polydactyly
9	HP:0001425	Heterogeneous
10	HP:0000316	Hypertelorism
11	HP:0001249	Intellectual disability
12	HP:0000612	Iris coloboma
13	HP:0006316	Irregularly spaced teeth
14	HP:0002808	Kyphosis
15	HP:0000256	Macrocephaly
16	HP:0005593	Macular hypopigmented whorls, streaks, and patches
17	HP:0000252	Microcephaly
18	HP:0002281	obsolete Gray matter heterotopias
19	HP:0009466	Radial deviation of finger
20	HP:0002650	Scoliosis
21	HP:0001250	Seizure
22	HP:0001442	Somatic mosaicism
23	HP:0000486	Strabismus
24	HP:0001159	Syndactyly
25	HP:0000179	Thick lower lip vermilion

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_145178.3(ATOH7):c.146A>T (p.Glu49Val)	220202	ATOH7	Pathogenic	587777664	RCV000133577;	N	Gene:54719,MedGen:C1857299,OMIM:221900,ORPHA:300337	10	69991289	69991289	NM_145178.3:c.146A>T	NP_660161.1:p.Glu49Val	10:g.69991289T>A	OMIM Allelic Variant:609875.0002	C0022283 300337 Hypomelanosis of Ito; C1857299 221900 Persistent hyperplastic primary vitreous, autosomal recessive
NM_145178.3(ATOH7):c.136A>C (p.Asn46His)	220202	ATOH7	Pathogenic	587777666	RCV000133579;	N	Gene:54719,MedGen:C1857299,OMIM:221900,ORPHA:300337	10	69991299	69991299	NM_145178.3:c.136A>C	NP_660161.1:p.Asn46His	10:g.69991299T>G	OMIM Allelic Variant:609875.0004	C0022283 300337 Hypomelanosis of Ito; C1857299 221900 Persistent hyperplastic primary vitreous, autosomal recessive
NM_145178.3(ATOH7):c.53delC (p.Pro18Argfs)	220202	ATOH7	Pathogenic	587777665	RCV000133578;	N	Gene:54719,MedGen:C1857299,OMIM:221900,ORPHA:300337	10	69991382	69991382	NM_145178.3:c.53delC	NP_660161.1:p.Pro18Argfs		OMIM Allelic Variant:609875.0003	C0022283 300337 Hypomelanosis of Ito; C1857299 221900 Persistent hyperplastic primary vitreous, autosomal recessive