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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

Disease Browser
Parent Node: Chromosome Disorders (D025063)
Parent Node: Chromosome Duplication (D058674)
..Starting node ..Chromosome 3q29 Duplication Syndrome (C567626)
Child Nodes:
Sister Nodes:
..Chromosome 17p13.3 Duplication Syndrome (C567705)
..Chromosome 22q11.2 Microduplication Syndrome (C567224)
..Chromosome 3q29 Duplication Syndrome (C567626)
..Chromosome 5p13 Duplication Syndrome (C567717)
..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..Chromosome Xq28 Duplication Syndrome (C567580)
..NF1 Microduplication Syndrome (C567173)
..Tetrasomy (D058670)
..Trisomy (D014314) 88
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2300

Name:

Chromosome 3q29 Duplication Syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D025063|MESH:D058674

TreeNumbers:

C16.131.260/C567626 |C16.320.180/C567626 |C23.550.210.182/C567626

Synonyms:

Microduplication 3q29 Syndrome

Slim Mappings:

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

Reference:

MedGen: C567626
MeSH: C567626
OMIM: 611936;

Genes: AF8T;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001090	Abnormally large globe
3	HP:0000581	Blepharophimosis	HP:0040284
4	HP:0000414	Bulbous nose	HP:0040284
5	HP:0000494	Downslanted palpebral fissures	HP:0040284
6	HP:0001263	Global developmental delay
7	HP:0001249	Intellectual disability	HP:0040284
8	HP:0000276	Long face	HP:0040284
9	HP:0002162	Low posterior hairline	HP:0040284
10	HP:0000256	Macrocephaly	HP:0040284
11	HP:0000252	Microcephaly	HP:0040284
12	HP:0006114	Multiple palmar creases	HP:0040284
13	HP:0001513	Obesity	HP:0040284
14	HP:0001763	Pes planus	HP:0040284
15	HP:0000311	Round face	HP:0040284
16	HP:0003196	Short nose	HP:0040284
17	HP:0012745	Short palpebral fissure
18	HP:0000431	Wide nasal bridge	HP:0040284

Disease Causing ClinVar Variants