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: Facies (D019066)
Parent Node: Intellectual Disability (D008607)
Parent Node: Upper Extremity Deformities, Congenital (D038062)
..Starting node ..Cubitus Valgus with Mental Retardation and Unusual Facies (C564510)
Child Nodes:
Sister Nodes:
..Absent radii and thrombocytopenia (C536940)
..Cubitus Valgus with Mental Retardation and Unusual Facies (C564510)
..Fryns Hofkens Fabry syndrome (C538069)
..Hand Deformities, Congenital (D006228) 134
..Holt-Oram syndrome (C535326)
..Hypomelia mullerian duct anomalies (C537155)
..Ophthalmomandibulomelic Dysplasia (C563501)
..Radio renal syndrome (C536267)
..Tamari Goodman syndrome (C536896)
..Terminal Transverse Defects of Arm (C565681)
..Ulnar hypoplasia lobster claw deformity of feet (C536936)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2887

Name:

Cubitus Valgus with Mental Retardation and Unusual Facies

Definition:

Alternative IDs:

OMIM:300471

ParentIDs:

MESH:D008607|MESH:D019066|MESH:D038062

TreeNumbers:

C05.660.585.988/C564510 |C10.597.606.643/C564510 |C16.131.621.585.988/C564510 |C23.550.291.812/C564510 |C23.888.592.604.646/C564510 |F03.550.600/C564510

Synonyms:

Slim Mappings:

Reference:

MedGen: C564510
MeSH: C564510
OMIM: 300471;

Genes:

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0001999	Abnormal facial shape
3	HP:0002967	Cubitus valgus
4	HP:0000490	Deeply set eye
5	HP:0000494	Downslanted palpebral fissures
6	HP:0002342	Intellectual disability, moderate
7	HP:0000995	Melanocytic nevus
8	HP:0000252	Microcephaly
9	HP:0001250	Seizure
10	HP:0000322	Short philtrum
11	HP:0001956	Truncal obesity

Disease Causing ClinVar Variants