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:
Abnormality of blood and blood-forming tissues (HP:0001871)

Parent Node:
Abnormality of bone marrow cell morphology (HP:0005561)

..Starting node
..Abnormal granulocytopoietic cell morphology (HP:0012135)

Term ID:

12135

Name:

Abnormal granulocytopoietic cell morphology

Synonym:

Abnormality of cells of the granulocytic lineage

Definition:

An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.

Comments:

Reference:

HP:0012135

Genes and Diseases:

Child Nodes:

........

Dysplastic granulopoesis (HP:0012136)

........

Abnormal number of granulocyte precursors (HP:0012137)

................... HP:0012138 Granulocytic hyperplasia
................... HP:0012139 Granulocytic hypoplasia

........

Myelokathexis (HP:0031160)

Sister Nodes:

Abnormal megakaryocyte morphology (HP:0012143)

Abnormality of bone marrow stromal cells (HP:0012129)

Abnormality of multiple cell lineages in the bone marrow (HP:0012145)

Reduced bone-marrow pro-B cell count (HP:0020048)

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:0012135	HP:0012135	Abnormal granulocytopoietic cell morphology	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0012135	HP:0012135	Abnormal granulocytopoietic cell morphology	0	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0012135	HP:0012135	Abnormal granulocytopoietic cell morphology	0	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome		9
HP:0012135	HP:0012135	Abnormal granulocytopoietic cell morphology	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0012135	HP:0012135	Abnormal granulocytopoietic cell morphology	0	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	HP:0040283 - Occasional	29
HP:0012135	HP:0012135	Abnormal granulocytopoietic cell morphology	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0012135	HP:0012135	Abnormal granulocytopoietic cell morphology	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0012135	HP:0012135	Abnormal granulocytopoietic cell morphology	0	NUMA1 CL E G H	4926	8059	OMIM:612376	Acute promyelocytic leukemia	.
HP:0012135	HP:0012135	Abnormal granulocytopoietic cell morphology	0	RARA CL E G H	5914	9864	OMIM:612376	Acute promyelocytic leukemia	.	2
HP:0012135	HP:0012135	Abnormal granulocytopoietic cell morphology	0	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0012135	HP:0012135	Abnormal granulocytopoietic cell morphology	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia		19
HP:0012135	HP:0012135	Abnormal granulocytopoietic cell morphology	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0012135	HP:0012135	Abnormal granulocytopoietic cell morphology	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia		3
HP:0012135	HP:0012135	Abnormal granulocytopoietic cell morphology	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0012135	HP:0012137	Abnormal number of granulocyte precursors	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		145
HP:0012135	HP:0031160	Myelokathexis	1	CXCR2 CL E G H	3579	6027	OMIM:619407	WHIM SYNDROME 2; WHIMS2		1
HP:0012135	HP:0031160	Myelokathexis	1	CXCR4 CL E G H	7852	2561	OMIM:193670	Whim syndrome	.	9
HP:0012135	HP:0031160	Myelokathexis	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040281 - Very frequent	9
HP:0012135	HP:0012137	Abnormal number of granulocyte precursors	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0012135	HP:0012137	Abnormal number of granulocyte precursors	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		327
HP:0012135	HP:0012137	Abnormal number of granulocyte precursors	1	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0012135	HP:0012137	Abnormal number of granulocyte precursors	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional	19
HP:0012135	HP:0012136	Dysplastic granulopoesis	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional	19
HP:0012135	HP:0012137	Abnormal number of granulocyte precursors	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		1
HP:0012135	HP:0012136	Dysplastic granulopoesis	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional	3
HP:0012135	HP:0012137	Abnormal number of granulocyte precursors	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional	3
HP:0012135	HP:0012137	Abnormal number of granulocyte precursors	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm		3
HP:0012135	HP:0012138	Granulocytic hyperplasia	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0012135	HP:0012138	Granulocytic hyperplasia	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B		5
HP:0012135	HP:0012138	Granulocytic hyperplasia	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0012135	HP:0012139	Granulocytic hypoplasia	2	RPL18 CL E G H	6141	10310	OMIM:618310	DIAMOND-BLACKFAN ANEMIA 18; DBA18
HP:0012135	HP:0012138	Granulocytic hyperplasia	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0012135	HP:0012138	Granulocytic hyperplasia	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3

Genes (12) :ASXL1 CXCR2 CXCR4 GATA1 IRF8 KIT NUMA1 RARA RPL18 SF3B1 SRSF2 TET2

Diseases (9) :ORPHA:98849 OMIM:619407 OMIM:193670 ORPHA:51636 OMIM:300835 OMIM:226990 OMIM:612376 OMIM:618310 ORPHA:75564

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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