Disease browser and phenotype portal

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

Disease Browser
Parent Node: Angiomatosis (D000798)
Parent Node: Brain Neoplasms (D001932)
..Starting node ..Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert (C536367)
Child Nodes:
Sister Nodes:
..Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert (C536367)
..Cerebral astrocytoma, adult (C535354)
..Cerebral sarcoma (C537946)
..Cerebral Ventricle Neoplasms (D002551) 3
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Desmoplastic cerebral astrocytoma of infancy (C535945)
..Familial capillaro-venous leptomeningeal angiomatosis (C536609)
..Glioma of Brain, Familial (C564230)
..Infratentorial Neoplasms (D015192) 2
..Neurocytoma (D018306)
..Pascual Castroviejo syndrome (C536302)
..Pinealoma (D010871) 1
..PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (OMIM:603688)
..Rhabdoid Tumor Predisposition Syndrome 1 (C563738)
..Supratentorial Neoplasms (D015173) 8
..Turcot syndrome (C536928)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

696

Name:

Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert

Definition:

Alternative IDs:

ParentIDs:

MESH:D000798|MESH:D001932

TreeNumbers:

C04.588.614.250.195/C536367 |C10.228.140.211/C536367 |C10.551.240.250/C536367 |C14.907.077/C536367

Synonyms:

Slim Mappings:

Cancer|Cardiovascular disease|Nervous system disease

Reference:

MedGen: C536367
MeSH: C536367
OMIM: 206570;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002977	Aplasia/Hypoplasia involving the central nervous system
3	HP:0001251	Ataxia
4	HP:0012444	Brain atrophy
5	HP:0002136	Broad-based gait
6	HP:0000965	Cutis marmorata
7	HP:0000726	Dementia
8	HP:0001260	Dysarthria
9	HP:0000712	Emotional lability
10	HP:0012377	Hemianopia
11	HP:0000822	Hypertension	HP:0040283
12	HP:0002076	Migraine
13	HP:0002200	Pseudobulbar signs
14	HP:0001250	Seizure
15	HP:0003745	Sporadic
16	HP:0007586	Telangiectases producing 'marbled' skin
17	HP:0002119	Ventriculomegaly
18	HP:0001123	Visual field defect

Disease Causing ClinVar Variants