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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: Autoimmune Diseases of the Nervous System (D020274)
Parent Node: Nervous System Malformations (D009421)
..Starting node ..Aicardi-Goutieres syndrome 5 (C535608)
Child Nodes:
Sister Nodes:
..Agenesis of Corpus Callosum (D061085) 59
..Aicardi-Goutieres syndrome (C535607) 1
..Aicardi-Goutieres Syndrome 3 (C563683)
..Aicardi-Goutieres Syndrome 4 (C563681)
..Aicardi-Goutieres syndrome 5 (C535608)
..Athabaskan brainstem dysgenesis (C535397)
..Central Nervous System Cysts (D020863) 11
..Central Nervous System Vascular Malformations (D020785) 10
..Cerebellar Hypoplasia (C562568)
..Chromosome 17p13.3 Duplication Syndrome (C567705)
..Dandy-Walker Syndrome (D003616) 13
..Drachtman Weinblatt Sitarz syndrome (C535603)
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Hereditary Sensory and Motor Neuropathy (D015417) 164
..Hydranencephaly (D006832) 3
..Malformations of Cortical Development (D054220) 226
..Median-Ulnar Nerve Communications (C563598)
..Microphthalmia, Syndromic 3 (C565948)
..Microphthalmia, Syndromic 6 (C566440)
..Neural Tube Defects (D009436) 55
..Schisis association (C536633)
..Septo-Optic Dysplasia (D025962) 6
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

374

Name:

Aicardi-Goutieres syndrome 5

Definition:

Alternative IDs:

OMIM:612952

ParentIDs:

MESH:D009421|MESH:D020274

TreeNumbers:

C10.114/C535608 |C10.500/C535608 |C16.131.666/C535608 |C20.111.258/C535608

Synonyms:

AGS5 |Aicardi-Goutieres syndrome, autosomal dominant

Slim Mappings:

Congenital abnormality|Immune system disease|Nervous system disease

Reference:

MedGen: C535608
MeSH: C535608
OMIM: 612952;

Genes: SAMHD1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003040	Arthropathy
3	HP:0002135	Basal ganglia calcification
4	HP:0009710	Chilblains
5	HP:0200149	CSF lymphocytic pleiocytosis	HP:0040283
6	HP:0007321	Deep white matter hypodensities
7	HP:0000958	Dry skin
8	HP:0008872	Feeding difficulties in infancy
9	HP:0001371	Flexion contracture
10	HP:0001263	Global developmental delay
11	HP:0000737	Irritability
12	HP:0002415	Leukodystrophy
13	HP:0002352	Leukoencephalopathy
14	HP:0000252	Microcephaly	HP:0040283
15	HP:0008936	Muscular hypotonia of the trunk
16	HP:0040189	Scaling skin
17	HP:0001257	Spasticity
18	HP:0001873	Thrombocytopenia
19	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants