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:0011343 | HP:0011343 | Moderate global developmental delay | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | HP:0040281 - Very frequent | | | 60 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | HP:0040282 - Frequent | | | 405 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | HAL CL E G H | 3034 | 4806 | ORPHA:2157 | Histidinemia | HP:0040284 - Very rare | | | 73 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040282 - Frequent | | | 19 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | . | | | 4 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | KDM5B CL E G H | 10765 | 18039 | OMIM:618109 | Mental retardation, autosomal recessive 65 | | | | 2 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:193520 | Watson syndrome | | | | 1952 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040282 - Frequent | | | 15 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 37 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280229 | Pelizaeus-Merzbacher disease in female carriers | HP:0040283 - Occasional | | | 60 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | PSMC3 CL E G H | 5702 | 9549 | OMIM:619354 | DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP | | | | | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 304 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 16 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 237 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 129 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | TET2 CL E G H | 54790 | 25941 | OMIM:619126 | IMMUNODEFICIENCY 75; IMD75 | | | | 3 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | HP:0040281 - Very frequent | | | 63 | | |
HP:0011343 | HP:0011343 | Moderate global developmental delay | 0 | TPP2 CL E G H | 7174 | 12016 | ORPHA:444463 | Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome | HP:0040281 - Very frequent | | | | | |