Disease browser and phenotype portal

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MSeqDR-LSDB
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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Chromosome 17 deletion (C538045)
Parent Node: Diseases (C)
Parent Node: Intellectual Disability (D008607)
Parent Node: Microcephaly (D008831)
Parent Node: Speech Disorders (D013064)
..Starting node ..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
Child Nodes:
Sister Nodes:
..Aphasia (D001037) 6
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Articulation Disorders (D001184) 7
..Atonic-Astatic Syndrome of Foerster (C565926)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..Echolalia (D004454)
..Maxillofacial Dysostosis (C563599)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..Mutism (D009155)
..Non-lissencephalic cortical dysplasia (C536243)
..Opticocochleodentate Degeneration (C563002)
..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..Speech disturbance - use of faulty phrasing and unrelated words (C538446)
..Stuttering (D013342) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2222

Name:

CHROMOSOME 17p13.1 DELETION SYNDROME

Definition:

Alternative IDs:

ParentIDs:

MESH:C538045|MESH:D008607|MESH:D008831|MESH:D013064

TreeNumbers:

C05.660.207.620/613776 |C10.500.507.400.500/613776 |C10.597.606.150.500.800/613776 |C10.597.606.643/613776 |C16.131.621.207.620/613776 |C16.131.666.507.400.500/613776 |C23.550.210.050.500.500/C538045/613776 |C23.888.592.604.150.500.800/613776 |C23.888.592.604.64

Synonyms:

Slim Mappings:

Reference:

MedGen: 613776
MeSH: 613776
OMIM: 613776;

Genes: AF8T;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0011448	Ankle clonus
3	HP:0000463	Anteverted nares
4	HP:0010055	Broad hallux
5	HP:0001466	Contiguous gene syndrome
6	HP:0000494	Downslanted palpebral fissures
7	HP:0002987	Elbow flexion contracture
8	HP:0000286	Epicanthus
9	HP:0011968	Feeding difficulties
10	HP:0001290	Generalized hypotonia
11	HP:0001263	Global developmental delay
12	HP:0000348	High forehead
13	HP:0000218	High palate
14	HP:0002553	Highly arched eyebrow
15	HP:0000238	Hydrocephalus
16	HP:0006801	Hyperactive deep tendon reflexes
17	HP:0003186	Inverted nipples
18	HP:0001388	Joint laxity
19	HP:0006380	Knee flexion contracture
20	HP:0001847	Long hallux
21	HP:0000426	Prominent nasal bridge
22	HP:0009623	Proximal placement of thumb
23	HP:0000331	Short chin
24	HP:0001773	Short foot
25	HP:0000470	Short neck
26	HP:0004279	Short palm
27	HP:0002360	Sleep disturbance
28	HP:0000486	Strabismus
29	HP:0000465	Webbed neck	HP:0040283

Disease Causing ClinVar Variants