Human Phenotype
Ontology
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Grandparent Node: Clinical course (HP:0031797) | Parent Node: Pace of progression (HP:0003679) | ..Starting node ..Nonprogressive (HP:0003680)
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Term ID: |
3680 |
Name: |
Nonprogressive |
Synonym: |
Does not worsen; Non-progressive; Nonprogressive course; Nonprogressive disorder; Stationary |
Definition: |
Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age. |
Comments: |
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Reference: |
HP:0003680 |
Genes and Diseases: | | Child Nodes: | Sister Nodes: | ..Progressive (HP:0003676)
| ..Rapidly progressive (HP:0003678)
| ..Slowly progressive (HP:0003677)
| ..Variable progression rate (HP:0003682)
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0003680 | HP:0003680 | Nonprogressive | 0 | ATG5 CL E G H | 9474 | 589 | OMIM:617584 | Spinocerebellar ataxia, autosomal recessive 25 | . | | | 1 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | . | | | 16 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | ATP2B3 CL E G H | 492 | 816 | OMIM:302500 | Spinocerebellar ataxia, X-linked 1 | . | | | 19 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | CLDN14 CL E G H | 23562 | 2035 | OMIM:614035 | Deafness, autosomal recessive 29 | . | | | 57 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:141200 | Hematuria, benign familial | . | | | 161 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | COL4A4 CL E G H | 1286 | 2206 | OMIM:141200 | Hematuria, benign familial | . | | | 174 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | . | | | 47 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | HOXB1 CL E G H | 3211 | 5111 | OMIM:614744 | Facial paresis, hereditary congenital, 3 | . | | | 2 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | ILDR1 CL E G H | 286676 | 28741 | OMIM:609646 | Deafness, neurosensory, autosomal recessive 42 | . | | | 42 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | KRT12 CL E G H | 3859 | 6414 | OMIM:122100 | Meesmann corneal dystrophy 1 | | | | 22 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | MARCHF6 CL E G H | 10299 | 30550 | OMIM:613608 | Epilepsy, familial adult myoclonic, 3 | . | | | | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | PDE10A CL E G H | 10846 | 8772 | OMIM:616922 | Striatal degeneration, autosomal dominant 2 | . | | | 5 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | PMPCA CL E G H | 23203 | 18667 | OMIM:213200 | Spinocerebellar ataxia, autosomal recessive 2 | . | | | 7 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | SAMD12 CL E G H | 401474 | 31750 | OMIM:601068 | Epilepsy, familial adult myoclonic, 1 | . | | | 2 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:618364 | MYOCLONUS, FAMILIAL, 2; MYOCL2 | | | | 357 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | STARD7 CL E G H | 56910 | 18063 | OMIM:607876 | Epilepsy, familial adult myoclonic, 2 | . | | | | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | . | | | 214 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | TUBB6 CL E G H | 84617 | 20776 | OMIM:617732 | Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | . | | | | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | VLDLR CL E G H | 7436 | 12698 | OMIM:224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | . | | | 111 | | | HP:0003680 | HP:0003680 | Nonprogressive | 0 | YEATS2 CL E G H | 55689 | 25489 | OMIM:615127 | Epilepsy, familial adult myoclonic, 4 | . | | | 1 | | |
Genes (22) :ATG5 ATN1 ATP2B3 CHRNE CLDN14 COL4A3 COL4A4 FGF14 GFPT1 HOXB1 ILDR1 KRT12 MARCHF6 PDE10A PMPCA SAMD12 SCN8A STARD7 TRPV4 TUBB6 VLDLR YEATS2
Diseases (20) :OMIM:617584 OMIM:618494 OMIM:302500 OMIM:608931 OMIM:614035 OMIM:141200 OMIM:193003 OMIM:614744 OMIM:609646 OMIM:122100 OMIM:613608 OMIM:616922 OMIM:213200 OMIM:601068 OMIM:618364 OMIM:607876 OMIM:600175 OMIM:617732 OMIM:224050 OMIM:615127 |
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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