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:
Clinical course (HP:0031797)

Parent Node:
Pace of progression (HP:0003679)

..Starting node
..Rapidly progressive (HP:0003678)

Term ID:

3678

Name:

Rapidly progressive

Synonym:

Rapid progression; Rapidly progressive disorder; Worsening quickly

Definition:

Applies to a disease manifestation that quickly increases in scope or severity over the course of time.

Comments:

Reference:

HP:0003678

Genes and Diseases:

Child Nodes:

Sister Nodes:

Nonprogressive (HP:0003680)

Progressive (HP:0003676)

Slowly progressive (HP:0003677)

Variable progression rate (HP:0003682)

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:0003678	HP:0003678	Rapidly progressive	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.	39
HP:0003678	HP:0003678	Rapidly progressive	0	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.	3
HP:0003678	HP:0003678	Rapidly progressive	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.	100
HP:0003678	HP:0003678	Rapidly progressive	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0003678	HP:0003678	Rapidly progressive	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0003678	HP:0003678	Rapidly progressive	0	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6	.	39
HP:0003678	HP:0003678	Rapidly progressive	0	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	.	46
HP:0003678	HP:0003678	Rapidly progressive	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.	149
HP:0003678	HP:0003678	Rapidly progressive	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.	86
HP:0003678	HP:0003678	Rapidly progressive	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.	155
HP:0003678	HP:0003678	Rapidly progressive	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset	.	6
HP:0003678	HP:0003678	Rapidly progressive	0	DYSF CL E G H	8291	3097	OMIM:606768	Myopathy, distal, with anterior tibial onset	.	600
HP:0003678	HP:0003678	Rapidly progressive	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.	83
HP:0003678	HP:0003678	Rapidly progressive	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.	68
HP:0003678	HP:0003678	Rapidly progressive	0	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.	68
HP:0003678	HP:0003678	Rapidly progressive	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.	108
HP:0003678	HP:0003678	Rapidly progressive	0	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11	.	126
HP:0003678	HP:0003678	Rapidly progressive	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0003678	HP:0003678	Rapidly progressive	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.	10
HP:0003678	HP:0003678	Rapidly progressive	0	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.	120
HP:0003678	HP:0003678	Rapidly progressive	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.	9
HP:0003678	HP:0003678	Rapidly progressive	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.	77
HP:0003678	HP:0003678	Rapidly progressive	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.	241
HP:0003678	HP:0003678	Rapidly progressive	0	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2	.	69
HP:0003678	HP:0003678	Rapidly progressive	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0003678	HP:0003678	Rapidly progressive	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0003678	HP:0003678	Rapidly progressive	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.	75
HP:0003678	HP:0003678	Rapidly progressive	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.	133
HP:0003678	HP:0003678	Rapidly progressive	0	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q	.	759
HP:0003678	HP:0003678	Rapidly progressive	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.	186
HP:0003678	HP:0003678	Rapidly progressive	0	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4	.	244
HP:0003678	HP:0003678	Rapidly progressive	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0003678	HP:0003678	Rapidly progressive	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.	69
HP:0003678	HP:0003678	Rapidly progressive	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0003678	HP:0003678	Rapidly progressive	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.	241
HP:0003678	HP:0003678	Rapidly progressive	0	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.	77
HP:0003678	HP:0003678	Rapidly progressive	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C	.	83
HP:0003678	HP:0003678	Rapidly progressive	0	SNCA CL E G H	6622	11138	OMIM:605543	Parkinson disease 4	.	65
HP:0003678	HP:0003678	Rapidly progressive	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.	65

Genes (37) :APOE ARHGDIA ATP13A2 BAG3 C9ORF72 COQ6 CRYAB CSF1R DCTN1 DNAJC5 DNAJC6 DYSF EPM2A FHL1 GDAP1 GRN HLA-DQB1 LYRM7 MFSD8 NAXE NHLRC1 NPHS1 NPHS2 NR1H4 PANK2 PEX10 PLA2G6 PLEC PLEKHG5 PNKP POLG PRNP PSEN1 SCARB2 SGCG SNCA TARDBP

Diseases (36) :OMIM:607822 OMIM:615244 OMIM:606693 OMIM:612954 OMIM:105550 OMIM:614650 OMIM:613869 OMIM:221820 OMIM:168605 OMIM:162350 OMIM:615528 OMIM:606768 OMIM:254780 OMIM:300718 OMIM:300717 OMIM:214400 OMIM:614706 OMIM:123400 OMIM:615838 OMIM:610951 OMIM:617186 OMIM:256300 OMIM:600995 OMIM:617049 OMIM:234200 OMIM:614870 OMIM:612953 OMIM:613723 OMIM:611067 OMIM:616267 OMIM:203700 OMIM:137440 OMIM:254900 OMIM:253700 OMIM:605543 OMIM:612069

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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