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: Acro-Osteolysis (D030981)
Parent Node: Blepharoptosis (D001763)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Decalcification, Pathologic (D003649)
Parent Node: Intellectual Disability (D008607)
Parent Node: Strabismus (D013285)
..Starting node ..Van Bogaert-Hozay syndrome (C536526)
Child Nodes:
Sister Nodes:
..Carnevale syndrome (C535586)
..Esotropia (D004948) 1
..Exotropia (D005099)
..Hemifacial Hyperplasia With Strabismus (C564199)
..Krauss Herman Holmes syndrome (C537618)
..McPherson Robertson Cammarano syndrome (C538161)
..Mehes syndrome (C536146)
..MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS (OMIM:613671)
..Ptosis, Strabismus, And Ectopic Pupils (C566736)
..Singh Chhaparwal Dhanda syndrome (C537341)
..Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease (C566677)
..Van Bogaert-Hozay syndrome (C536526)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11511

Name:

Van Bogaert-Hozay syndrome

Definition:

Alternative IDs:

ParentIDs:

TreeNumbers:

C05.116.099.052/C536526 |C05.116.198.247.400/C536526 |C05.116.264.579.052/C536526 |C05.660.207/C536526 |C10.292.562.887/C536526 |C10.597.606.643/C536526 |C11.338.204/C536526 |C11.590.810/C536526 |C16.131.621.207/C536526 |C18.452.174.289/C536526 |C23.888.592.604.64

Synonyms:

Acro-osteolysis-facial dysplasia syndrome |Hozay's syndrome

Slim Mappings:

Reference:

MedGen: C536526
MeSH: C536526
OMIM: 277150;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001595	Abnormal hair morphology
3	HP:0000377	Abnormality of the pinna
4	HP:0000483	Astigmatism
5	HP:0005280	Depressed nasal bridge
6	HP:0005033	Distal ulnar hypoplasia
7	HP:0001256	Intellectual disability, mild
8	HP:0000347	Micrognathia
9	HP:0000545	Myopia
10	HP:0009771	Osteolytic defects of the phalanges of the hand
11	HP:0000692	Tooth malposition

Disease Causing ClinVar Variants