Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 macrophage morphology (HP:0004311)

..Starting node
..Sea-blue histiocytosis (HP:0001982)

Term ID:

1982

Name:

Sea-blue histiocytosis

Synonym:

Sea-blue histiocyte

Definition:

An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.

Comments:

Reference:

HP:0001982

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal macrophage count (HP:0030326)

Bone-marrow foam cells (HP:0004333)

Granulomatosis (HP:0002955)

Hemophagocytosis (HP:0012156)

Histiocytosis (HP:0100727)

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:0001982	HP:0001982	Sea-blue histiocytosis	0	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease	.	39
HP:0001982	HP:0001982	Sea-blue histiocytosis	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent	39
HP:0001982	HP:0001982	Sea-blue histiocytosis	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.	120
HP:0001982	HP:0001982	Sea-blue histiocytosis	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0001982	HP:0001982	Sea-blue histiocytosis	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0001982	HP:0001982	Sea-blue histiocytosis	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0001982	HP:0001982	Sea-blue histiocytosis	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164

Genes (5) :APOE GLB1 NPC1 NPC2 SMPD1

Diseases (7) :OMIM:269600 ORPHA:158029 OMIM:230600 OMIM:257220 OMIM:607625 OMIM:257200 OMIM:607616

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen