Human Phenotype Ontology 
Grandparent Node:
expandAbnormal erythrocyte morphology (HP:0001877)help
Parent Node:
expandAbnormal hemoglobin (HP:0011902)help
..Starting node
..expandHemoglobin Barts (HP:0005507)help
Term ID: 5507
Name: Hemoglobin Barts
Synonym: Haemoglobin Barts; Hb Barts
Definition: Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.
Comments:
Reference: HP:0005507
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal mean corpuscular hemoglobin concentration (HP:0025546) help
..expandElevated hemoglobin A1c (HP:0040217) help
..expandHbH hemoglobin (HP:0011903) help
..expandHbS hemoglobin (HP:0045047) help
..expandImbalanced hemoglobin synthesis (HP:0005560) help
..expandIncreased HbA2 hemoglobin (HP:0045048) help
..expandMethemoglobinemia (HP:0012119) help
..expandPersistence of hemoglobin F (HP:0011904) help
..expandReduced hemoglobin A (HP:0011905) 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:0005507HP:0005507Hemoglobin Barts0 CL E G H


Genes (0) :

Diseases (0) :
 

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