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

..Starting node
..Abnormal CSF albumin concentration (HP:0500238)

Term ID:

500238

Name:

Abnormal CSF albumin concentration

Synonym:

Abnormal albumin levels in cerebrospinal fluid

Definition:

Any deviation from the normal concentration of albumin in the cerebrospinal fluid.

Comments:

Reference:

HP:0500238

Genes and Diseases:

Child Nodes:

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:0500238	HP:0500238	Abnormal CSF albumin concentration	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0500238	HP:0500238	Abnormal CSF albumin concentration	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0500238	HP:0500238	Abnormal CSF albumin concentration	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0500238	HP:0025458	Decreased CSF albumin concentration	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent	32
HP:0500238	HP:0025458	Decreased CSF albumin concentration	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0500238	HP:0500239	Increased CSF albumin concentration	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2

Genes (2) :NGLY1 SLC12A2

Diseases (3) :ORPHA:404454 OMIM:615273 OMIM:619080

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