Human Phenotype
Ontology
Grandparent Node: Abnormal leukocyte morphology (HP:0001881) Parent Node: Abnormal myeloid leukocyte morphology (HP:0010974) ..Starting node Abnormal phagocytosis (HP:0010977)
Term ID: 10977
Name: Abnormal phagocytosis
Synonym:
Definition: An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation.
Comments:
Reference: HP:0010977
Genes and Diseases: Child Nodes: ........Absence of bactericidal oxidative respiratory burst in phagocytes (HP:0002723) Sister Nodes: ..Abnormal granulocyte morphology (HP:0001911) ..Abnormal macrophage morphology (HP:0004311) ..Abnormal mast cell morphology (HP:0100494) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0010977 HP:0010977 Abnormal phagocytosis 0 CYBA CL E G H 1535 2577 OMIM:233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE 27 HP:0010977 HP:0010977 Abnormal phagocytosis 0 CYBB CL E G H 1536 2578 OMIM:306400 Chronic granulomatous disease, X-linked 111 HP:0010977 HP:0010977 Abnormal phagocytosis 0 NCF1 CL E G H 653361 7660 OMIM:233700 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I 13 HP:0010977 HP:0010977 Abnormal phagocytosis 0 NCF2 CL E G H 4688 7661 OMIM:233710 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II 67 HP:0010977 HP:0002723 Absence of bactericidal oxidative respiratory burst in phagocytes 1 CYBA CL E G H 1535 2577 OMIM:233690 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE . 27 HP:0010977 HP:0002723 Absence of bactericidal oxidative respiratory burst in phagocytes 1 CYBB CL E G H 1536 2578 OMIM:306400 Chronic granulomatous disease, X-linked . 111 HP:0010977 HP:0002723 Absence of bactericidal oxidative respiratory burst in phagocytes 1 NCF1 CL E G H 653361 7660 OMIM:233700 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I . 13 HP:0010977 HP:0002723 Absence of bactericidal oxidative respiratory burst in phagocytes 1 NCF2 CL E G H 4688 7661 OMIM:233710 Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II . 67
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
