Cell Cycle Ontology

Last uploaded: June 26, 2014
Preferred Name

Periventricular nodular heterotopia 1
Synonyms
Definitions

(PVNH1): A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period.

ID

http://purl.obolibrary.org/obo/OMIM_300049

definition

(PVNH1): A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period.

has_obo_namespace

cell_cycle_ontology

id

OMIM:300049

label

Periventricular nodular heterotopia 1

notation

OMIM:300049

prefLabel

Periventricular nodular heterotopia 1

treeView

http://purl.obolibrary.org/obo/OGMS_0000031

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

Delete Subject Author Type Created
No notes to display