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 granulocyte morphology (HP:0001911)

Parent Node:
Abnormal basophil morphology (HP:0001912)

..Starting node
..Abnormal basophil count (HP:0031806)

Term ID:

31806

Name:

Abnormal basophil count

Synonym:

Definition:

Any deviation from the normal number of basophils per volume in the blood circulation.

Comments:

Reference:

HP:0031806

Genes and Diseases:

Child Nodes:

........

Increased basophil count (HP:0031807)

........

Decreased basophil count (HP:0031808)

Sister Nodes:

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:0031806	HP:0031806	Abnormal basophil count	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0031806	HP:0031806	Abnormal basophil count	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0031806	HP:0031806	Abnormal basophil count	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0031806	HP:0031806	Abnormal basophil count	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0031806	HP:0031806	Abnormal basophil count	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0031806	HP:0031807	Increased basophil count	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0031806	HP:0031808	Decreased basophil count	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0031806	HP:0031807	Increased basophil count	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0031806	HP:0031807	Increased basophil count	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0031806	HP:0031807	Increased basophil count	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3

Genes (5) :ASXL1 BACH2 KIT SRSF2 TET2

Diseases (2) :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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