Human Phenotype
Ontology
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..Starting node ..Motor regression (HP:0033044)
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Term ID: |
33044 |
Name: |
Motor regression |
Synonym: |
Regression of motor skills |
Definition: |
Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones. |
Comments: |
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Reference: |
HP:0033044 |
Genes and Diseases: | | Child Nodes: | Sister Nodes: | 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:0033044 | HP:0033044 | Motor regression | 0 | ADH5 CL E G H | 128 | 253 | OMIM:619151 | AMED SYNDROME, DIGENIC; AMEDS | | | | | | | HP:0033044 | HP:0033044 | Motor regression | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040282 - Frequent | | | 111 | | | HP:0033044 | HP:0033044 | Motor regression | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | | HP:0033044 | HP:0033044 | Motor regression | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | | | | | | | HP:0033044 | HP:0033044 | Motor regression | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | | | | 120 | | | HP:0033044 | HP:0033044 | Motor regression | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | | HP:0033044 | HP:0033044 | Motor regression | 0 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | | HP:0033044 | HP:0033044 | Motor regression | 0 | NFU1 CL E G H | 27247 | 16287 | OMIM:605711 | Multiple mitochondrial dysfunctions syndrome 1 | | | | 34 | | | HP:0033044 | HP:0033044 | Motor regression | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | | HP:0033044 | HP:0033044 | Motor regression | 0 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | | HP:0033044 | HP:0033044 | Motor regression | 0 | POLR3K CL E G H | 51728 | 14121 | OMIM:619310 | LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21 | | | | | | | HP:0033044 | HP:0033044 | Motor regression | 0 | SELENOI CL E G H | 85465 | 29361 | OMIM:618768 | SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81 | | | | | | | HP:0033044 | HP:0033044 | Motor regression | 0 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | | | | | | |
Genes (13) :ADH5 CLN8 DPH5 EPRS1 GLB1 HSD17B4 NDUFA6 NFU1 NGLY1 POLR3GL POLR3K SELENOI TRAPPC6B
Diseases (13) :OMIM:619151 ORPHA:1947 OMIM:620070 OMIM:617951 OMIM:230600 OMIM:261515 OMIM:618253 OMIM:605711 OMIM:615273 OMIM:619234 OMIM:619310 OMIM:618768 OMIM:617862 |
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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