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 neutrophils (HP:0001874)

Parent Node:
Abnormality of neutrophil morphology (HP:0011992)

..Starting node
..Absent neutrophil specific granules (HP:0012551)

Term ID:

12551

Name:

Absent neutrophil specific granules

Synonym:

Definition:

Lack of specific granules in neutrophils.

Comments:

Reference:

HP:0012551

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypersegmentation of neutrophil nuclei (HP:0004821)

Hyposegmentation of neutrophil nuclei (HP:0011447)

Increased neutrophil nuclear projections (HP:0012552)

Neutrophil inclusion bodies (HP:0008264)

Pyknotic bone marrow neutrophils (HP:0031019)

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:0012551	HP:0012551	Absent neutrophil specific granules	0	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency	.	3
HP:0012551	HP:0012551	Absent neutrophil specific granules	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0012551	HP:0041042	Absent neutrophil lactoferrin	1	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency	.	3

Genes (2) :CEBPE SMARCD2

Diseases (2) :OMIM:245480 OMIM:617475

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