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: Abnormalities, Multiple (D000015)
Parent Node: Chromosome Deletion (D002872)
Parent Node: Chromosome Disorders (D025063)
..Starting node ..Chromosome 19q13.11 Deletion Syndrome (C567810)
Child Nodes:
Sister Nodes:
..10p Deletion Syndrome (Partial) (C538288)
..13q deletion syndrome (C535484) 1
..15q24 Microdeletion (C579849)
..16p11.2 Deletion Syndrome (C579850)
..22q11 Deletion Syndrome (D058165) 5
..6q+ Syndrome, Partial (C537810)
..7p2 monosomy syndrome (C537818)
..9q22.3 Microdeletion (C579873)
..Angelman Syndrome (D017204) 1
..Beckwith-Wiedemann Syndrome (D001506) 1
..Branchio-Oto-Renal Syndrome (D019280) 5
..Chromosome 10q duplication syndrome (C537804)
..Chromosome 13q-mosaicism (C535486)
..Chromosome 15q13.3 Microdeletion Syndrome (C567439)
..Chromosome 17p13.3 Duplication Syndrome (C567705)
..Chromosome 18 deletion syndrome (C536580)
..Chromosome 18p deletion syndrome (C538309)
..Chromosome 19q13.11 Deletion Syndrome (C567810)
..Chromosome 1p36 Deletion Syndrome (C535362)
..Chromosome 22, monosome mosaic (C536798)
..Chromosome 3 duplication syndrome (C536803)
..Chromosome 3q29 Duplication Syndrome (C567626)
..Chromosome 4, 4q Terminal Deletion Syndrome (C537641)
..Chromosome 4q- Syndrome (C537639)
..Chromosome 5p13 Duplication Syndrome (C567717)
..Chromosome 6 ring syndrome (C537763)
..Chromosome 7 ring syndrome (C537813)
..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..Contiguous Abcd1/Dxs1375e Deletion Syndrome (C564508)
..Cri-du-Chat Syndrome (D003410) 6
..De Lange Syndrome (D003635) 1
..Delayed Cranial Ossification due to CBFB Haploinsufficiency (C565160)
..Deletion 13q syndrome, partial (C535449)
..Distal Trisomy 10q Syndrome (C538087)
..Down Syndrome (D004314) 6
..Duplication 4p Syndrome (C537643)
..Edinburgh Malformation Syndrome (C563051)
..Emanuel syndrome (C535733)
..Fragile Site 16p12 (C565001)
..Holoprosencephaly (D016142) 22
..Isodicentric Chromosome 15 Syndrome (C580205)
..Jacobsen Distal 11q Deletion Syndrome (D054868) 1
..Mental Retardation, Fra12a Type (C566980)
..Monosomy 7 of Bone Marrow (C565370)
..Mosaic variegated aneuploidy syndrome (C536987)
..NF1 Microduplication Syndrome (C567173)
..Otodental Dysplasia (C563482)
..Pallister Killian syndrome (C538105)
..Partial Duplication 15q Syndrome (C538036)
..Partial Trisomy 3q Syndrome (C537635)
..Patau syndrome (C536305)
..Potocki-Shaffer syndrome (C538356)
..Prader-Willi Syndrome (D011218) 2
..Recombinant chromosome 8 syndrome (C535296)
..Ring chromosome 4 syndrome (C537636)
..Rubinstein-Taybi Syndrome (D012415) 2
..Schmid-Fraccaro syndrome (C535918)
..Sex Chromosome Disorders (D025064) 32
..Silver-Russell Syndrome (D056730) 1
..Smith-Magenis Syndrome (D058496) 1
..Sotos Syndrome (D058495) 1
..Telomeric 22q13 Monosomy Syndrome (C536801)
..Thrombocytopenia chromosome breakage (C536519)
..Trisomy 18-Like Syndrome (C563382)
..Trisomy 22 mosaicism syndrome (C536796)
..WAGR Syndrome (D017624) 2
..Warburton Anyane Yeboa syndrome (C536682)
..Williams Syndrome (D018980) 1
..Wolf-Hirschhorn Syndrome (D054877)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2239

Name:

Chromosome 19q13.11 Deletion Syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D000015|MESH:D002872|MESH:D025063

TreeNumbers:

C16.131.077/C567810 |C16.131.260/C567810 |C16.320.180/C567810 |C23.550.210.050.500.500/C567810

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Pathology (process)

Reference:

MedGen: C567810
MeSH: C567810
OMIM: 613026;

Genes: AF8T;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001671	Abnormal cardiac septum morphology
3	HP:0000463	Anteverted nares
4	HP:0000483	Astigmatism
5	HP:0000048	Bifid scrotum
6	HP:0000581	Blepharophimosis
7	HP:0000670	Carious teeth
8	HP:0004209	Clinodactyly of the 5th finger
9	HP:0000028	Cryptorchidism
10	HP:0010554	Cutaneous finger syndactyly
11	HP:0000958	Dry skin
12	HP:0001508	Failure to thrive
13	HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	HP:0040283
14	HP:0008872	Feeding difficulties in infancy
15	HP:0001263	Global developmental delay
16	HP:0000348	High forehead
17	HP:0000668	Hypodontia
18	HP:0000047	Hypospadias
19	HP:0000023	Inguinal hernia
20	HP:0001249	Intellectual disability
21	HP:0001511	Intrauterine growth retardation
22	HP:0000276	Long face
23	HP:0000637	Long palpebral fissure
24	HP:0000369	Low-set ears
25	HP:0000400	Macrotia
26	HP:0000252	Microcephaly
27	HP:0000347	Micrognathia
28	HP:0002164	Nail dysplasia
29	HP:0001845	Overlapping toe
30	HP:0008897	Postnatal growth retardation
31	HP:0000508	Ptosis
32	HP:0002719	Recurrent infections
33	HP:0003758	Reduced subcutaneous adipose tissue
34	HP:0000278	Retrognathia
35	HP:0003196	Short nose
36	HP:0012745	Short palpebral fissure
37	HP:0000322	Short philtrum
38	HP:0004322	Short stature
39	HP:0001195	Single umbilical artery
40	HP:0000535	Sparse and thin eyebrow
41	HP:0000653	Sparse eyelashes
42	HP:0003745	Sporadic
43	HP:0000233	Thin vermilion border
44	HP:0000430	Underdeveloped nasal alae
45	HP:0006610	Wide intermamillary distance
46	HP:0000431	Wide nasal bridge

Disease Causing ClinVar Variants