Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal myeloid leukocyte morphology (HP:0010974)

Parent Node:
Abnormal granulocyte morphology (HP:0001911)

..Starting node
..Abnormal basophil morphology (HP:0001912)

Term ID:

1912

Name:

Abnormal basophil morphology

Synonym:

Abnormality of basophils

Definition:

Any structural abnormality or abnormal count of basophils.

Comments:

Reference:

HP:0001912

Genes and Diseases:

Child Nodes:

........

Abnormal basophil count (HP:0031806)

................... HP:0031807 Increased basophil count
................... HP:0031808 Decreased basophil count

Sister Nodes:

Abnormal eosinophil morphology (HP:0001879)

Abnormality of neutrophils (HP:0001874)

Granulocytopenia (HP:0001913)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001912	HP:0001912	Abnormal basophil morphology	0	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	51
HP:0001912	HP:0001912	Abnormal basophil morphology	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001912	HP:0001912	Abnormal basophil morphology	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001912	HP:0001912	Abnormal basophil morphology	0	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	5
HP:0001912	HP:0001912	Abnormal basophil morphology	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001912	HP:0001912	Abnormal basophil morphology	0	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent	181
HP:0001912	HP:0001912	Abnormal basophil morphology	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001912	HP:0001912	Abnormal basophil morphology	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001912	HP:0031806	Abnormal basophil count	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0001912	HP:0031806	Abnormal basophil count	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001912	HP:0031806	Abnormal basophil count	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0001912	HP:0031806	Abnormal basophil count	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0001912	HP:0031806	Abnormal basophil count	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0001912	HP:0031807	Increased basophil count	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0001912	HP:0031808	Decreased basophil count	2	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0001912	HP:0031807	Increased basophil count	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0001912	HP:0031807	Increased basophil count	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0001912	HP:0031807	Increased basophil count	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3

Genes (8) :ABL1 ASXL1 BACH2 BCR KIT RUNX1 SRSF2 TET2

Diseases (3) :ORPHA:521 ORPHA:98849 OMIM:618394

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

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