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: Aortic Coarctation (D001017)
Parent Node: Eye Abnormalities (D005124)
Parent Node: Neurocutaneous Syndromes (D020752)
..Starting node ..PHACE association (C537892)
Child Nodes:
Sister Nodes:
..Angioma hereditary neurocutaneous (C536364)
..Ataxia Telangiectasia (D001260) 6
..Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (C537943)
..Elejalde Disease (C536203)
..Encephalocraniocutaneous lipomatosis (C535736)
..Gomez Lopez Hernandez syndrome (C537285)
..Johnson neuroectodermal syndrome (C535882)
..Neurocutaneous melanosis (C537387)
..Neurofibromatoses (D017253) 13
..Nevus, Sebaceous of Jadassohn (D054000) 1
..PHACE association (C537892)
..Phacomatosis pigmentovascularis (C537894)
..Sturge-Weber Syndrome (D013341) 1
..Tuberous Sclerosis (D014402) 4
..von Hippel-Lindau Disease (D006623)
..Wyburn Mason's syndrome (C536752)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8879

Name:

PHACE association

Definition:

Alternative IDs:

ParentIDs:

MESH:D001017|MESH:D005124|MESH:D020752

TreeNumbers:

C10.562/C537892 |C11.250/C537892 |C14.240.400.090/C537892 |C14.280.400.090/C537892 |C16.131.077.350.712/C537892 |C16.131.240.400.090/C537892 |C16.131.384/C537892 |C16.131.831.350.712/C537892 |C16.320.850.250.712/C537892 |C17.800.804.350.712/C537892 |C17.800.827.25

Synonyms:

PHACES association

Slim Mappings:

Reference:

MedGen: C537892
MeSH: C537892
OMIM: 606519;

Genes:

Phenotypes

1	HP:0001423	X-linked dominant inheritance
2	HP:0005314	Anomalous branches of internal carotid artery
3	HP:0004942	Aortic aneurysm
4	HP:0100545	Arterial stenosis
5	HP:0007486	Cavernous hemangioma of the face
6	HP:0001321	Cerebellar hypoplasia
7	HP:0001680	Coarctation of aorta
8	HP:0000851	Congenital hypothyroidism
9	HP:0001305	Dandy-Walker malformation
10	HP:0000519	Developmental cataract
11	HP:0001263	Global developmental delay
12	HP:0002277	Horner syndrome
13	HP:0007986	Increased retinal vascularity
14	HP:0100029	Lingual thyroid
15	HP:0000568	Microphthalmia
16	HP:0002076	Migraine
17	HP:0000648	Optic atrophy
18	HP:0000609	Optic nerve hypoplasia
19	HP:0001643	Patent ductus arteriosus
20	HP:0007434	Plaque-like facial hemangioma
21	HP:0001250	Seizure
22	HP:0003745	Sporadic
23	HP:0001629	Ventricular septal defect

Disease Causing ClinVar Variants