Human Phenotype Ontology 
Grandparent Node:
expandAbnormal metencephalon morphology (HP:0011283)help
Parent Node:
expandAbnormal cerebellum morphology (HP:0001317)help
..Starting node
..expandRecurrent subcortical infarcts (HP:0007236)help
Term ID: 7236
Name: Recurrent subcortical infarcts
Synonym:
Definition:
Comments:
Reference: HP:0007236
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal cerebellar cortex morphology (HP:0031422) help
..expandAbnormal dentate nucleus morphology (HP:0100321) help
..expandAplasia/Hypoplasia of the cerebellum (HP:0007360) help
..expandAtaxia (HP:0001251) help
..expandCerebellar atrophy (HP:0001272) help
..expandCerebellar calcifications (HP:0007352) help
..expandCerebellar dysplasia (HP:0007033) help
..expandCerebellar edema (HP:0030915) help
..expandCerebellar gliosis (HP:0012698) help
..expandCerebellar hemangioblastoma (HP:0006880) help
..expandCerebellar malformation (HP:0002438) help
..expandDysplastic gangliocytoma of the cerebellum (HP:0500009) help
..expandEnlarged cerebellum (HP:0012081) help
..expandFusion of the cerebellar hemispheres (HP:0006899) help
..expandOlivopontocerebellar atrophy (HP:0002542) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007236HP:0007236Recurrent subcortical infarcts0HTRA1 CL E G H56549476OMIM:616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 234
HP:0007236HP:0007236Recurrent subcortical infarcts0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0007236HP:0007236Recurrent subcortical infarcts0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy.144
HP:0007236HP:0007236Recurrent subcortical infarcts0NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040283 - Occasional144


Genes (3) :HTRA1 NF1 NOTCH3

Diseases (4) :OMIM:616779 ORPHA:97685 OMIM:125310 ORPHA:136
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.