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:0011342 | HP:0011342 | Mild global developmental delay | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | ABCA2 CL E G H | 20 | 32 | OMIM:618808 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA | | | | | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:79134 | DEND syndrome | HP:0040282 - Frequent | | | 245 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | ACAD8 CL E G H | 27034 | 87 | ORPHA:79159 | Isobutyryl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 58 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | . | | | 72 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | ALB CL E G H | 213 | 399 | ORPHA:86816 | Congenital analbuminemia | HP:0040283 - Occasional | | | 104 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040283 - Occasional | | | 74 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | ASPA CL E G H | 443 | 756 | ORPHA:314918 | Mild Canavan disease | HP:0040282 - Frequent | | | 48 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | ATR CL E G H | 545 | 882 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 168 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | ATRIP CL E G H | 84126 | 33499 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | CDC6 CL E G H | 990 | 1744 | OMIM:613805 | Meier-Gorlin syndrome 5 | . | | | 31 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:619957 | | | | | | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | CENPE CL E G H | 1062 | 1856 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | CENPJ CL E G H | 55835 | 17272 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 161 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | CEP152 CL E G H | 22995 | 29298 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 146 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040283 - Occasional | | | 52 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | . | | | 52 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 88 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | DBR1 CL E G H | 51163 | 15594 | OMIM:619441 | ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11 | | | | | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | DHTKD1 CL E G H | 55526 | 23537 | OMIM:204750 | 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD | | | | 12 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | DOLK CL E G H | 22845 | 23406 | ORPHA:91131 | DK1-CDG | | | | 55 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | FTCD CL E G H | 10841 | 3974 | ORPHA:51208 | Formiminoglutamic aciduria | HP:0040283 - Occasional | | | 65 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 109 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | IARS1 CL E G H | 3376 | 5330 | ORPHA:541423 | Growth delay-intellectual disability-hepatopathy syndrome | HP:0040283 - Occasional | | | | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79134 | DEND syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 70 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 62 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 125 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:178377 | Osteosclerosis-developmental delay-craniosynostosis syndrome | HP:0040283 - Occasional | | | 125 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | | | | 69 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | NARS2 CL E G H | 79731 | 26274 | ORPHA:79134 | DEND syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 39 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | | | | 88 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 531 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | PDP1 CL E G H | 54704 | 9279 | ORPHA:79246 | Pyruvate dehydrogenase phosphatase deficiency | HP:0040282 - Frequent | | | 52 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | PLK4 CL E G H | 10733 | 11397 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280229 | Pelizaeus-Merzbacher disease in female carriers | HP:0040283 - Occasional | | | 60 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | RBBP8 CL E G H | 5932 | 9891 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 68 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:606744 | Seckel syndrome 2 | | | | 68 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | RNF168 CL E G H | 165918 | 26661 | OMIM:611943 | Riddle syndrome | | | | 7 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | HP:0040283 - Occasional | | | 24 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | TCF12 CL E G H | 6938 | 11623 | OMIM:615314 | Craniosynostosis 3 | | | | 28 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | TOP3A CL E G H | 7156 | 11992 | OMIM:618097 | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | | | | | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | TRAIP CL E G H | 10293 | 30764 | ORPHA:808 | Seckel syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | HP:0040281 - Very frequent | | | | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | TSPAN12 CL E G H | 23554 | 21641 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 39 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 14 | | |
HP:0011342 | HP:0011342 | Mild global developmental delay | 0 | ZNF462 CL E G H | 58499 | 21684 | OMIM:618619 | WEISS-KRUSZKA SYNDROME; WSKA | | | | 4 | | |