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:0007281 | HP:0007281 | Developmental stagnation | 0 | ACAN CL E G H | 176 | 319 | ORPHA:435804 | Short stature-advanced bone age-early-onset osteoarthritis syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | . | | | | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 405 | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | . | | | 120 | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:617235 | Myoclonus, intractable, neonatal | . | | | 93 | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | MCOLN1 CL E G H | 57192 | 13356 | OMIM:252650 | Mucolipidosis IV | . | | | 78 | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | MCOLN1 CL E G H | 57192 | 13356 | ORPHA:578 | Mucolipidosis type IV | HP:0040281 - Very frequent | | | 78 | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | NUP62 CL E G H | 23636 | 8066 | OMIM:271930 | Striatonigral degeneration, infantile | . | | | 7 | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040282 - Frequent | | | 37 | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | POLR2A CL E G H | 5430 | 9187 | OMIM:618603 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB | | | | | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | PTPN23 CL E G H | 25930 | 14406 | OMIM:618890 | NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS | | | | 3 | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | SCN1B CL E G H | 6324 | 10586 | OMIM:617350 | Epileptic encephalopathy, early infantile, 52 | . | | | 126 | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | ST3GAL5 CL E G H | 8869 | 10872 | OMIM:609056 | Salt and pepper developmental regression syndrome | | | | 47 | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | VPS11 CL E G H | 55823 | 14583 | OMIM:616683 | Leukodystrophy, hypomyelinating, 12 | | | | 1 | | |
HP:0007281 | HP:0007281 | Developmental stagnation | 0 | ZNHIT3 CL E G H | 9326 | 12309 | OMIM:260565 | Peho syndrome | | | | 1 | | |
HP:0007281 | HP:0006834 | Developmental stagnation at onset of seizures | 1 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0007281 | HP:0006834 | Developmental stagnation at onset of seizures | 1 | ST3GAL5 CL E G H | 8869 | 10872 | OMIM:609056 | Salt and pepper developmental regression syndrome | . | | | 47 | | |