hydrocephalus

Summary
Synonym
  • hydrocephalus, X-linked
  • hydrocephalus, nonsyndromic, autosomal recessive
Definition
A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
Super Class
cerebral degeneration
Related Genes
Displaying entries 51 - 60 of 81 in total
Gene ID Gene Symbol Description Source
22854 NTNG1 netrin G1
23483 TGDS TDP-glucose 4,6-dehydratase
23556 PIGN phosphatidylinositol glycan anchor biosynthesis class N
26229 B3GAT3 beta-1,3-glucuronyltransferase 3
26275 HIBCH 3-hydroxyisobutyryl-CoA hydrolase
26503 SLC17A5 solute carrier family 17 member 5
27255 CNTN6 contactin 6
29925 GMPPB GDP-mannose pyrophosphorylase B
29954 POMT2 protein O-mannosyltransferase 2
53942 CNTN5 contactin 5
Displaying all 3 entries
Gene ID Gene Symbol Description Source
15289 Hmgb1 high mobility group box 1
19013 Ppara peroxisome proliferator activated receptor alpha
74653 Pomk protein-O-mannose kinase
Displaying all 3 entries
Gene ID Gene Symbol Description Source
25459 Hmgb1 high mobility group box 1
25747 Ppara peroxisome proliferator activated receptor alpha
306549 Pomk protein-O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
492773 pomk protein O-mannose kinase
The Human Phenotype Ontology
Displaying entries 11 - 20 of 21 in total
HPO ID HPO Term
HP:0001181 Adducted thumb
HP:0010864 Intellectual disability, severe
HP:0001257 Spasticity
HP:0000486 Strabismus
HP:0001387 Joint stiffness
HP:0001249 Intellectual disability
HP:0009600 Thumb contracture
HP:0000256 Macrocephaly
HP:0001258 Spastic paraplegia
HP:0001419 X-linked recessive inheritance
Displaying 1 entry
Gene ID Gene Symbol Description
3897 L1CAM L1 cell adhesion molecule

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Last updated: August 19, 2024