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:
Abnormal cerebrospinal fluid morphology (HP:0002921)

Parent Node:
Abnormal CSF metabolite concentration (HP:0025454)

..Starting node
..Increased CSF interferon alpha (HP:0009709)

Term ID:

9709

Name:

Increased CSF interferon alpha

Synonym:

Definition:

Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).

Comments:

Reference:

HP:0009709

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal CSF biopterin concentration (HP:0040207)

Abnormal CSF dopamine concentration (HP:0012654)

Abnormal CSF glucose concentration (HP:0031884)

Abnormal CSF lactate concentration (HP:0030085)

Abnormal CSF neopterin concentration (HP:0040203)

Decreased CSF 5-hydroxyindolacetic acid concentration (HP:0025455)

Decreased CSF 5-methyltetrahydrofolate concentration (HP:0012446)

Decreased CSF erythritol concentration (HP:0410056)

Decreased CSF homovanillic acid concentration (HP:0003785)

Increased level of D-threitol in CSF (HP:0410058)

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:0009709	HP:0009709	Increased CSF interferon alpha	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	116
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6		116
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	28
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	33
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	34
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	60
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	55
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	56
HP:0009709	HP:0009709	Increased CSF interferon alpha	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56

Genes (9) :ADAR IFIH1 LSM11 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 TREX1

Diseases (3) :ORPHA:51 OMIM:615010 OMIM:225750

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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