Human Phenotype Ontology 
Grandparent Node:
expandAbnormal carotid artery morphology (HP:0005344)help
Grandparent Node:
expandAbnormal head blood vessel morphology (HP:3000036)help
Parent Node:
expandAbnormal internal carotid artery morphology (HP:3000062)help
..Starting node
..expandInternal carotid artery hypoplasia (HP:0005290)help
Term ID: 5290
Name: Internal carotid artery hypoplasia
Synonym: Aplasia of internal carotid artery; Decreased size of internal carotid artery; Deficiency of internal carotid artery; Hypotrophic internal carotid artery; Small internal carotid artery
Definition:
Comments:
Reference: HP:0005290
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of ophthalmic artery (HP:0410006) 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:0005290HP:0005290Internal carotid artery hypoplasia0HOXA1 CL E G H31985099OMIM:601536ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS34
HP:0005290HP:0005290Internal carotid artery hypoplasia0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040284 - Very rare165


Genes (2) :HOXA1 LMX1B

Diseases (2) :OMIM:601536 ORPHA:2614
 

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