Human Phenotype Ontology

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 cerebrospinal fluid morphology (HP:0002921)

Parent Node:
Abnormal CSF protein concentration (HP:0025456)

..Starting node
..Abnormal CSF amyloid concentration (HP:0030860)

Term ID:

30860

Name:

Abnormal CSF amyloid concentration

Synonym:

Abnormal CSF A[beta]42 level; Abnormal CSF amyloid level

Definition:

Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).

Comments:

Reference:

HP:0030860

Genes and Diseases:

Child Nodes:

........

Decreased CSF amyloid level (HP:0030861)

........

Elevated CSF amyloid level (HP:0030862)

Sister Nodes:

Decreased CSF albumin concentration (HP:0025458)

Decreased CSF protein concentration (HP:0025457)

Increased CSF protein concentration (HP:0002922)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030860	HP:0030860	Abnormal CSF amyloid concentration	0	CL E G H
HP:0030860	HP:0030862	Elevated CSF amyloid concentration	1	CL E G H
HP:0030860	HP:0030861	Decreased CSF amyloid concentration	1	CL E G H

Genes (0) :

Diseases (0) :

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