Human Phenotype Ontology

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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:
Abnormality of the nervous system (HP:0000707)

Parent Node:
Abnormal nervous system physiology (HP:0012638)

..Starting node
..Cataplexy (HP:0002524)

Term ID:

2524

Name:

Cataplexy

Synonym:

Definition:

A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.

Comments:

Reference:

HP:0002524

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal brain positron emission tomography (HP:0012657)

Abnormal central motor function (HP:0011442)

Abnormal central sensory function (HP:0011730)

Abnormal hypothalamus physiology (HP:0012285)

Abnormal metabolic brain imaging by MRS (HP:0012705)

Abnormal nervous system electrophysiology (HP:0001311)

Abnormal synaptic transmission (HP:0012535)

Abnormality of higher mental function (HP:0011446)

Abnormality of intracranial pressure (HP:0012640)

Abnormality of movement (HP:0100022)

Abnormality of pineal physiology (HP:0012688)

Abnormality of taste sensation (HP:0000223)

Abnormality of the sense of smell (HP:0004408)

Behavioral abnormality (HP:0000708)

Bulbar palsy (HP:0001283)

Bulbar signs (HP:0002483)

Dysphagia (HP:0002015)

Easy fatigability (HP:0003388)

Encephalopathy (HP:0001298)

Headache (HP:0002315)

Hypocalcemic tetany (HP:0003472)

Neurodevelopmental abnormality (HP:0012759)

Pseudobulbar signs (HP:0002200)

Seizure (HP:0001250)

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:0002524	HP:0002524	Cataplexy	0	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	1
HP:0002524	HP:0002524	Cataplexy	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.	145
HP:0002524	HP:0002524	Cataplexy	0	HCRT CL E G H	3060	4847	OMIM:161400	Narcolepsy 1	.	1
HP:0002524	HP:0002524	Cataplexy	0	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	1
HP:0002524	HP:0002524	Cataplexy	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent
HP:0002524	HP:0002524	Cataplexy	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	2
HP:0002524	HP:0002524	Cataplexy	0	MOG CL E G H	4340	7197	OMIM:614250	Narcolepsy 7	.	1
HP:0002524	HP:0002524	Cataplexy	0	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	1
HP:0002524	HP:0002524	Cataplexy	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0002524	HP:0002524	Cataplexy	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0002524	HP:0002524	Cataplexy	0	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	2
HP:0002524	HP:0002524	Cataplexy	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040284 - Very rare	16
HP:0002524	HP:0002524	Cataplexy	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0002524	HP:0002524	Cataplexy	0	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent
HP:0002524	HP:0002524	Cataplexy	0	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1	HP:0040281 - Very frequent	3

Genes (12) :CTSH DNMT1 HCRT HLA-DQB1 HLA-DRB1 MOG NPC1 NPC2 P2RY11 TBCD TNFSF4 ZNF365

Diseases (8) :ORPHA:2073 OMIM:604121 OMIM:161400 OMIM:614250 OMIM:257220 OMIM:607625 ORPHA:496641 OMIM:617193

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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