Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 162 | 13666 | 605378 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 174 | 13666 | 605378 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AARS CL E G H | 16 | 442835 | | | | ORPHA | 1 | | | 20 | 601065 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AASS CL E G H | 10157 | 238700 | Hyperlysinemia | 238700 | C0268553 | OMIM | 1 | | 97 | 17366 | 605113 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AASS CL E G H | 10157 | 238700 | Hyperlysinemia | 238700 | C0268553 | OMIM | 1 | | 108 | 17366 | 605113 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AASS CL E G H | 10157 | 268700 | Saccharopinuria | 268700 | C0268556 | OMIM | 1 | | 97 | 17366 | 605113 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AASS CL E G H | 10157 | 268700 | Saccharopinuria | 268700 | C0268556 | OMIM | 1 | | 108 | 17366 | 605113 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ABCA4 CL E G H | 24 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 2128 | 34 | 601691 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ABCA4 CL E G H | 24 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 2534 | 34 | 601691 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ABCC8 CL E G H | 6833 | 99886 | | | | ORPHA | 1 | | 1125 | 59 | 600509 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ABCC8 CL E G H | 6833 | 99886 | | | | ORPHA | 1 | | 1253 | 59 | 600509 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ABCC8 CL E G H | 6833 | 240800 | Leucine-induced hypoglycemia | 240800 | C0271714 | OMIM | 1 | | 1125 | 59 | 600509 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ABCC8 CL E G H | 6833 | 240800 | Leucine-induced hypoglycemia | 240800 | C0271714 | OMIM | 1 | | 1253 | 59 | 600509 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ABCC8 CL E G H | 6833 | 256450 | Persistent hyperinsulinemic hypoglycemia of infancy | 256450 | C2931832 | OMIM | 1 | | 1125 | 59 | 600509 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ABCC8 CL E G H | 6833 | 256450 | Persistent hyperinsulinemic hypoglycemia of infancy | 256450 | C2931832 | OMIM | 1 | | 1253 | 59 | 600509 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ABHD5 CL E G H | 51099 | 275630 | Triglyceride storage disease with ichthyosis | 275630 | C0268238 | OMIM | 1 | | 173 | 21396 | 604780 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ABHD5 CL E G H | 51099 | 275630 | Triglyceride storage disease with ichthyosis | 275630 | C0268238 | OMIM | 1 | | 184 | 21396 | 604780 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACAT1 CL E G H | 38 | 203750 | Deficiency of acetyl-CoA acetyltransferase | 203750 | C1536500 | OMIM | 1 | | 366 | 93 | 607809 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACAT1 CL E G H | 38 | 203750 | Deficiency of acetyl-CoA acetyltransferase | 203750 | C1536500 | OMIM | 1 | | 412 | 93 | 607809 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 1 | | 229 | 25070 | 609377 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACD CL E G H | 65057 | 3322 | | | | ORPHA | 1 | | 321 | 25070 | 609377 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 27 | 16066 | 617036 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 38 | 16066 | 617036 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACSL4 CL E G H | 2182 | 777 | Arthrogryposis multiplex congenita | | C0003886 | ORPHA | 1 | | 233 | 3571 | 300157 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACSL4 CL E G H | 2182 | 777 | Arthrogryposis multiplex congenita | | C0003886 | ORPHA | 1 | | 239 | 3571 | 300157 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACSL4 CL E G H | 2182 | 300387 | Mental retardation 63, X-linked | 300387 | C1845672 | OMIM | 1 | | 233 | 3571 | 300157 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACSL4 CL E G H | 2182 | 300387 | Mental retardation 63, X-linked | 300387 | C1845672 | OMIM | 1 | | 239 | 3571 | 300157 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACTA2 CL E G H | 59 | 2573 | Growth retardation alopecia pseudoanodontia optic | | | ORPHA | 1 | | 362 | 130 | 102620 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACTA2 CL E G H | 59 | 2573 | Growth retardation alopecia pseudoanodontia optic | | | ORPHA | 1 | | 387 | 130 | 102620 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 322 | 132 | 102630 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 349 | 132 | 102630 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACTB CL E G H | 60 | 243310 | Baraitser-Winter syndrome 1 | 243310 | C1855722 | OMIM | 1 | | 322 | 132 | 102630 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACTB CL E G H | 60 | 243310 | Baraitser-Winter syndrome 1 | 243310 | C1855722 | OMIM | 1 | | 349 | 132 | 102630 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 322 | 132 | 102630 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACTB CL E G H | 60 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 349 | 132 | 102630 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 347 | 144 | 102560 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ACTG1 CL E G H | 71 | 2995 | Infant epilepsy with migrant focal crisis | | | ORPHA | 1 | | 370 | 144 | 102560 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ADAMTS3 CL E G H | 9508 | 2136 | Epidermal nevus vitamin D resistant rickets | | | ORPHA | 1 | | 43 | 219 | 605011 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ADAMTS3 CL E G H | 9508 | 2136 | Epidermal nevus vitamin D resistant rickets | | | ORPHA | 1 | | 45 | 219 | 605011 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ADAT3 CL E G H | 113179 | 615286 | Mental retardation, autosomal recessive 36 | 615286 | C3809039 | OMIM | 1 | | 76 | 25151 | 615302 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ADAT3 CL E G H | 113179 | 615286 | Mental retardation, autosomal recessive 36 | 615286 | C3809039 | OMIM | 1 | | 85 | 25151 | 615302 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ADGRG1 CL E G H | 9289 | 615752 | Polymicrogyria, bilateral perisylvian, autosomal recessive | 615752 | C3810405 | OMIM | 1 | | 494 | 4512 | 604110 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ADGRG1 CL E G H | 9289 | 615752 | Polymicrogyria, bilateral perisylvian, autosomal recessive | 615752 | C3810405 | OMIM | 1 | | 536 | 4512 | 604110 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 251 | 15766 | 611386 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ADNP CL E G H | 23394 | 615873 | Helsmoortel-van der aa syndrome | 615873 | C4014538 | OMIM | 1 | | 268 | 15766 | 611386 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ADSL CL E G H | 158 | 46 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 368 | 291 | 608222 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ADSL CL E G H | 158 | 46 | 46,XX testicular disorder of sex development | | C2936420 | ORPHA | 1 | | 582 | 291 | 608222 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AFF2 CL E G H | 2334 | 309548 | FRAXE | 309548 | C0751157 | OMIM | 1 | | 341 | 3776 | 300806 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AFF2 CL E G H | 2334 | 309548 | FRAXE | 309548 | C0751157 | OMIM | 1 | | 349 | 3776 | 300806 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AFF4 CL E G H | 27125 | 616368 | Chops syndrome | 616368 | C4085597 | OMIM | 1 | | 112 | 17869 | 604417 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AFF4 CL E G H | 27125 | 616368 | Chops syndrome | 616368 | C4085597 | OMIM | 1 | | 157 | 17869 | 604417 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AGA CL E G H | 175 | 93 | | | | ORPHA | 1 | | 330 | 318 | 613228 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AGA CL E G H | 175 | 93 | | | | ORPHA | 1 | | 355 | 318 | 613228 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 330 | 318 | 613228 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 355 | 318 | 613228 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AGBL5 CL E G H | 60509 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 265 | 26147 | 615900 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AGBL5 CL E G H | 60509 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 377 | 26147 | 615900 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 203 | 325 | 603100 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AGPAT2 CL E G H | 10555 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 205 | 325 | 603100 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 1 | | 1309 | 329 | 103320 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 1 | | 1579 | 329 | 103320 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AGTR2 CL E G H | 186 | 777 | Arthrogryposis multiplex congenita | | C0003886 | ORPHA | 1 | | 181 | 338 | 300034 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AGTR2 CL E G H | 186 | 777 | Arthrogryposis multiplex congenita | | C0003886 | ORPHA | 1 | | 183 | 338 | 300034 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AHCY CL E G H | 191 | 613752 | Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency | 613752 | C3151058 | OMIM | 1 | | 113 | 343 | 180960 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AHCY CL E G H | 191 | 613752 | Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency | 613752 | C3151058 | OMIM | 1 | | 126 | 343 | 180960 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AHDC1 CL E G H | 27245 | 615829 | Xia-Gibbs syndrome | 615829 | C4014419 | OMIM | 1 | | 312 | 25230 | 615790 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AHDC1 CL E G H | 27245 | 615829 | Xia-Gibbs syndrome | 615829 | C4014419 | OMIM | 1 | | 373 | 25230 | 615790 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AHI1 CL E G H | 54806 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AHI1 CL E G H | 54806 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 650 | 21575 | 608894 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 827 | 21575 | 608894 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AHR CL E G H | 196 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 204 | 348 | 600253 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AHR CL E G H | 196 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 300 | 348 | 600253 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AHSG CL E G H | 197 | 2850 | | | | ORPHA | 1 | | 61 | 349 | 138680 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 413 | 8768 | 300169 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 450 | 8768 | 300169 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AIFM1 CL E G H | 9131 | 310490 | Cowchock syndrome | 310490 | C0795910 | OMIM | 1 | | 413 | 8768 | 300169 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AIFM1 CL E G H | 9131 | 310490 | Cowchock syndrome | 310490 | C0795910 | OMIM | 1 | | 450 | 8768 | 300169 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 1 | | 380 | 391 | 164730 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 1 | | 417 | 391 | 164730 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AKT3 CL E G H | 10000 | 615937 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 615937 | C4014738 | OMIM | 1 | | 228 | 393 | 611223 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AKT3 CL E G H | 10000 | 615937 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 615937 | C4014738 | OMIM | 1 | | 249 | 393 | 611223 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH18A1 CL E G H | 5832 | 35664 | | | | ORPHA | 1 | | 346 | 9722 | 138250 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH18A1 CL E G H | 5832 | 35664 | | | | ORPHA | 1 | | 392 | 9722 | 138250 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH18A1 CL E G H | 5832 | 219150 | Cutis laxa-corneal clouding-oligophrenia syndrome | 219150 | C0268354 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH18A1 CL E G H | 5832 | 219150 | Cutis laxa-corneal clouding-oligophrenia syndrome | 219150 | C0268354 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH18A1 CL E G H | 5832 | 616586 | Spastic paraplegia 9b, autosomal recessive | 616586 | C4225272 | OMIM | 1 | | 346 | 9722 | 138250 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH18A1 CL E G H | 5832 | 616586 | Spastic paraplegia 9b, autosomal recessive | 616586 | C4225272 | OMIM | 1 | | 392 | 9722 | 138250 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 437 | 403 | 609523 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 475 | 403 | 609523 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH3A2 CL E G H | 224 | 270200 | Sjögren-Larsson syndrome | 270200 | C0037231 | OMIM | 1 | | 437 | 403 | 609523 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH3A2 CL E G H | 224 | 270200 | Sjögren-Larsson syndrome | 270200 | C0037231 | OMIM | 1 | | 475 | 403 | 609523 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH4A1 CL E G H | 8659 | 239510 | Deficiency of pyrroline-5-carboxylate reductase | 239510 | C2931835 | OMIM | 1 | | 197 | 406 | 606811 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH4A1 CL E G H | 8659 | 239510 | Deficiency of pyrroline-5-carboxylate reductase | 239510 | C2931835 | OMIM | 1 | | 220 | 406 | 606811 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH5A1 CL E G H | 7915 | 22 | AFib amyloidosis | | CN244920 | ORPHA | 1 | | 472 | 408 | 610045 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH5A1 CL E G H | 7915 | 22 | AFib amyloidosis | | CN244920 | ORPHA | 1 | | 537 | 408 | 610045 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH7A1 CL E G H | 501 | 3006 | | | | ORPHA | 1 | | 619 | 877 | 107323 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH7A1 CL E G H | 501 | 3006 | | | | ORPHA | 1 | | 696 | 877 | 107323 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH7A1 CL E G H | 501 | 266100 | Pyridoxine-dependent epilepsy | 266100 | C1849508 | OMIM | 1 | | 619 | 877 | 107323 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDH7A1 CL E G H | 501 | 266100 | Pyridoxine-dependent epilepsy | 266100 | C1849508 | OMIM | 1 | | 696 | 877 | 107323 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 316 | 417 | 612724 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALDOB CL E G H | 229 | 229600 | Hereditary fructosuria | 229600 | C0016751 | OMIM | 1 | | 330 | 417 | 612724 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALG13 CL E G H | 79868 | 777 | Arthrogryposis multiplex congenita | | C0003886 | ORPHA | 1 | | 633 | 30881 | 300776 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALG13 CL E G H | 79868 | 777 | Arthrogryposis multiplex congenita | | C0003886 | ORPHA | 1 | | 710 | 30881 | 300776 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALG2 CL E G H | 85365 | 607906 | Congenital disorder of glycosylation type 1I | 607906 | C1842836 | OMIM | 1 | | 193 | 23159 | 607905 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALG2 CL E G H | 85365 | 607906 | Congenital disorder of glycosylation type 1I | 607906 | C1842836 | OMIM | 1 | | 241 | 23159 | 607905 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALG9 CL E G H | 79796 | 608776 | ALG9 congenital disorder of glycosylation | 608776 | C2931006 | OMIM | 1 | | 212 | 15672 | 606941 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALG9 CL E G H | 79796 | 608776 | ALG9 congenital disorder of glycosylation | 608776 | C2931006 | OMIM | 1 | | 222 | 15672 | 606941 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 285 | 430 | 603741 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALOX12B CL E G H | 242 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 291 | 430 | 603741 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 202 | 13743 | 607206 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALOXE3 CL E G H | 59344 | 242100 | Autosomal recessive congenital ichthyosis 2 | 242100 | C1855792 | OMIM | 1 | | 209 | 13743 | 607206 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALX1 CL E G H | 8092 | 613456 | Frontonasal dysplasia 3 | 613456 | C3150706 | OMIM | 1 | | 31 | 1494 | 601527 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALX3 CL E G H | 257 | 136760 | Frontonasal dysplasia 1 | 136760 | C1876203 | OMIM | 1 | | 42 | 449 | 606014 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ALX3 CL E G H | 257 | 136760 | Frontonasal dysplasia 1 | 136760 | C1876203 | OMIM | 1 | | 43 | 449 | 606014 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AMMECR1 CL E G H | 9949 | 300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 300990 | C4310810 | OMIM | 1 | | 192 | 467 | 300195 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AMMECR1 CL E G H | 9949 | 300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 300990 | C4310810 | OMIM | 1 | | 196 | 467 | 300195 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 321 | 473 | 238310 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 382 | 473 | 238310 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ANK1 CL E G H | 286 | 251066 | | | | ORPHA | 1 | | 567 | 492 | 612641 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ANK1 CL E G H | 286 | 251066 | | | | ORPHA | 1 | | 604 | 492 | 612641 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ANKRD11 CL E G H | 29123 | 148050 | KBG syndrome | 148050 | C0220687 | OMIM | 1 | | 1101 | 21316 | 611192 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ANKRD11 CL E G H | 29123 | 148050 | KBG syndrome | 148050 | C0220687 | OMIM | 1 | | 1184 | 21316 | 611192 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AP1S1 CL E G H | 1174 | 171851 | | | | ORPHA | 1 | | 53 | 559 | 603531 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AP1S1 CL E G H | 1174 | 171851 | | | | ORPHA | 1 | | 55 | 559 | 603531 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 53 | 559 | 603531 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 55 | 559 | 603531 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 117 | 567 | 602166 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AP3B2 CL E G H | 8120 | 442835 | | | | ORPHA | 1 | | 288 | 567 | 602166 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 713 | 22197 | 613653 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 780 | 22197 | 613653 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 713 | 22197 | 613653 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AP5Z1 CL E G H | 9907 | 613647 | Spastic paraplegia 48, autosomal recessive | 613647 | C3150901 | OMIM | 1 | | 780 | 22197 | 613653 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | APC2 CL E G H | 10297 | 821 | | | | ORPHA | 1 | | 179 | 24036 | 612034 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | APC2 CL E G H | 10297 | 821 | | | | ORPHA | 1 | | 194 | 24036 | 612034 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | APC2 CL E G H | 10297 | 617169 | Sotos syndrome 3 | 617169 | C4310684 | OMIM | 1 | | 179 | 24036 | 612034 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | APC2 CL E G H | 10297 | 617169 | Sotos syndrome 3 | 617169 | C4310684 | OMIM | 1 | | 194 | 24036 | 612034 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 125 | 20492 | 616003 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 129 | 20492 | 616003 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 125 | 20492 | 616003 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 129 | 20492 | 616003 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | APP CL E G H | 351 | 324703 | | | | ORPHA | 1 | | 320 | 620 | 104760 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | APP CL E G H | 351 | 324703 | | | | ORPHA | 1 | | 364 | 620 | 104760 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AQP2 CL E G H | 359 | 125800 | Nephrogenic diabetes insipidus, autosomal | 125800 | C1563706 | OMIM | 1 | | 239 | 634 | 107777 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AQP2 CL E G H | 359 | 125800 | Nephrogenic diabetes insipidus, autosomal | 125800 | C1563706 | OMIM | 1 | | 247 | 634 | 107777 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 69 | 649 | 600820 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 95 | 649 | 600820 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARG1 CL E G H | 383 | 207800 | Arginase deficiency | 207800 | C0268548 | OMIM | 1 | | 234 | 663 | 608313 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARG1 CL E G H | 383 | 207800 | Arginase deficiency | 207800 | C0268548 | OMIM | 1 | | 295 | 663 | 608313 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 174 | 29216 | 610911 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 210 | 29216 | 610911 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARHGDIA CL E G H | 396 | 615244 | Nephrotic syndrome, type 8 | 615244 | C3808953 | OMIM | 1 | | 41 | 678 | 601925 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARHGEF18 CL E G H | 23370 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 376 | 17090 | 616432 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARHGEF18 CL E G H | 23370 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 519 | 17090 | 616432 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARHGEF2 CL E G H | 9181 | 617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | 617523 | C4479613 | OMIM | 1 | | 37 | 682 | 607560 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARHGEF2 CL E G H | 9181 | 617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | 617523 | C4479613 | OMIM | 1 | | 41 | 682 | 607560 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARHGEF6 CL E G H | 9459 | 777 | Arthrogryposis multiplex congenita | | C0003886 | ORPHA | 1 | | 238 | 685 | 300267 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARHGEF6 CL E G H | 9459 | 777 | Arthrogryposis multiplex congenita | | C0003886 | ORPHA | 1 | | 243 | 685 | 300267 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARID1A CL E G H | 8289 | 1465 | | | | ORPHA | 1 | | 383 | 11110 | 603024 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARID1A CL E G H | 8289 | 1465 | | | | ORPHA | 1 | | 442 | 11110 | 603024 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 383 | 11110 | 603024 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARID1A CL E G H | 8289 | 614607 | Mental retardation, autosomal dominant 14 | 614607 | C3553247 | OMIM | 1 | | 442 | 11110 | 603024 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARID1B CL E G H | 57492 | 1465 | | | | ORPHA | 1 | | 866 | 18040 | 614556 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARID1B CL E G H | 57492 | 1465 | | | | ORPHA | 1 | | 958 | 18040 | 614556 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 866 | 18040 | 614556 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 958 | 18040 | 614556 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARID2 CL E G H | 196528 | 1465 | | | | ORPHA | 1 | | 179 | 18037 | 609539 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARID2 CL E G H | 196528 | 1465 | | | | ORPHA | 1 | | 186 | 18037 | 609539 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARID2 CL E G H | 196528 | 617808 | COFFIN-SIRIS SYNDROME 6 | 617808 | C4540499 | OMIM | 1 | | 179 | 18037 | 609539 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARID2 CL E G H | 196528 | 617808 | COFFIN-SIRIS SYNDROME 6 | 617808 | C4540499 | OMIM | 1 | | 186 | 18037 | 609539 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 184 | 25419 | 608922 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 222 | 25419 | 608922 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARL13B CL E G H | 200894 | 612291 | Joubert syndrome 8 | 612291 | C2676771 | OMIM | 1 | | 184 | 25419 | 608922 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARL13B CL E G H | 200894 | 612291 | Joubert syndrome 8 | 612291 | C2676771 | OMIM | 1 | | 222 | 25419 | 608922 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARL2BP CL E G H | 23568 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 51 | 17146 | 615407 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARL2BP CL E G H | 23568 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 74 | 17146 | 615407 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 64 | 694 | 604695 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 90 | 694 | 604695 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARL3 CL E G H | 403 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 64 | 694 | 604695 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARL3 CL E G H | 403 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 90 | 694 | 604695 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARL6 CL E G H | 84100 | 110 | | | | ORPHA | 1 | | 113 | 13210 | 608845 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARL6 CL E G H | 84100 | 110 | | | | ORPHA | 1 | | 143 | 13210 | 608845 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARL6 CL E G H | 84100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 113 | 13210 | 608845 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARL6 CL E G H | 84100 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 143 | 13210 | 608845 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 251 | 20730 | 617612 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 380 | 20730 | 617612 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 732 | 713 | 607574 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 841 | 713 | 607574 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARSI CL E G H | 340075 | 401815 | | | | ORPHA | 1 | | 84 | 32521 | 610009 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARSI CL E G H | 340075 | 401815 | | | | ORPHA | 1 | | 96 | 32521 | 610009 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 62 | 29561 | 611647 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARV1 CL E G H | 64801 | 442835 | | | | ORPHA | 1 | | 65 | 29561 | 611647 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARX CL E G H | 170302 | 452 | | | | ORPHA | 1 | | 565 | 18060 | 300382 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARX CL E G H | 170302 | 452 | | | | ORPHA | 1 | | 624 | 18060 | 300382 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARX CL E G H | 170302 | 3175 | | | | ORPHA | 1 | | 565 | 18060 | 300382 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARX CL E G H | 170302 | 3175 | | | | ORPHA | 1 | | 624 | 18060 | 300382 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARX CL E G H | 170302 | 777 | Arthrogryposis multiplex congenita | | C0003886 | ORPHA | 1 | | 565 | 18060 | 300382 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARX CL E G H | 170302 | 777 | Arthrogryposis multiplex congenita | | C0003886 | ORPHA | 1 | | 624 | 18060 | 300382 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 565 | 18060 | 300382 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 624 | 18060 | 300382 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARX CL E G H | 170302 | 300419 | Mental retardation, with or without seizures, ARX-related, X-linked | 300419 | C0796244 | OMIM | 1 | | 565 | 18060 | 300382 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARX CL E G H | 170302 | 300419 | Mental retardation, with or without seizures, ARX-related, X-linked | 300419 | C0796244 | OMIM | 1 | | 624 | 18060 | 300382 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARX CL E G H | 170302 | 309510 | Partington X-linked mental retardation syndrome | 309510 | C0796250 | OMIM | 1 | | 565 | 18060 | 300382 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ARX CL E G H | 170302 | 309510 | Partington X-linked mental retardation syndrome | 309510 | C0796250 | OMIM | 1 | | 624 | 18060 | 300382 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASAH1 CL E G H | 427 | 228000 | Farber disease | 228000 | C0268255 | OMIM | 1 | | 420 | 735 | 613468 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASAH1 CL E G H | 427 | 228000 | Farber disease | 228000 | C0268255 | OMIM | 1 | | 593 | 735 | 613468 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASCL1 CL E G H | 429 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 32 | 738 | 100790 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASH1L CL E G H | 55870 | 617796 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | 617796 | C4540478 | OMIM | 1 | | 156 | 19088 | 607999 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASH1L CL E G H | 55870 | 617796 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 | 617796 | C4540478 | OMIM | 1 | | 173 | 19088 | 607999 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASL CL E G H | 435 | 207900 | Argininosuccinate lyase deficiency | 207900 | C0268547 | OMIM | 1 | | 423 | 746 | 608310 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASL CL E G H | 435 | 207900 | Argininosuccinate lyase deficiency | 207900 | C0268547 | OMIM | 1 | | 469 | 746 | 608310 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASL CL E G H | 435 | 23 | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 | | C2931135 | ORPHA | 1 | | 423 | 746 | 608310 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASL CL E G H | 435 | 23 | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 | | C2931135 | ORPHA | 1 | | 469 | 746 | 608310 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 245 | 756 | 608034 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 281 | 756 | 608034 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASPM CL E G H | 259266 | 608716 | Primary autosomal recessive microcephaly 5 | 608716 | C1837501 | OMIM | 1 | | 920 | 19048 | 605481 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASPM CL E G H | 259266 | 608716 | Primary autosomal recessive microcephaly 5 | 608716 | C1837501 | OMIM | 1 | | 1103 | 19048 | 605481 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASS1 CL E G H | 445 | 215700 | Citrullinemia type I | 215700 | C0175683 | OMIM | 1 | | 481 | 758 | 603470 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASS1 CL E G H | 445 | 215700 | Citrullinemia type I | 215700 | C0175683 | OMIM | 1 | | 517 | 758 | 603470 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASXL2 CL E G H | 55252 | 617190 | Shashi-Pena syndrome | 617190 | C4310672 | OMIM | 1 | | 111 | 23805 | 612991 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASXL2 CL E G H | 55252 | 617190 | Shashi-Pena syndrome | 617190 | C4310672 | OMIM | 1 | | 170 | 23805 | 612991 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 411 | 29357 | 615115 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 432 | 29357 | 615115 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATAD3A CL E G H | 55210 | 496790 | | | | ORPHA | 1 | | 250 | 25567 | 612316 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATAD3A CL E G H | 55210 | 496790 | | | | ORPHA | 1 | | 264 | 25567 | 612316 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 250 | 25567 | 612316 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 264 | 25567 | 612316 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 726 | 800 | 182340 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 801 | 800 | 182340 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP1A2 CL E G H | 477 | 602481 | Familial hemiplegic migraine type 2 | 602481 | C1865322 | OMIM | 1 | | 726 | 800 | 182340 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP1A2 CL E G H | 477 | 602481 | Familial hemiplegic migraine type 2 | 602481 | C1865322 | OMIM | 1 | | 801 | 800 | 182340 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 625 | 801 | 182350 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 687 | 801 | 182350 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP5F1E CL E G H | 514 | 614053 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 | 614053 | C3279708 | OMIM | 1 | | 36 | 838 | 606153 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP5F1E CL E G H | 514 | 614053 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3 | 614053 | C3279708 | OMIM | 1 | | 37 | 838 | 606153 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 263 | 18305 | 300556 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP6AP2 CL E G H | 10159 | 300423 | Mental retardation, X-linked, syndromic, Hedera type | 300423 | C1845543 | OMIM | 1 | | 286 | 18305 | 300556 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP6V0A2 CL E G H | 23545 | 219200 | Cutis laxa with osteodystrophy | 219200 | C0268355 | OMIM | 1 | | 417 | 18481 | 611716 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP6V0A2 CL E G H | 23545 | 219200 | Cutis laxa with osteodystrophy | 219200 | C0268355 | OMIM | 1 | | 458 | 18481 | 611716 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP6V0A2 CL E G H | 23545 | 278250 | Wrinkly skin syndrome | 278250 | C0406587 | OMIM | 1 | | 417 | 18481 | 611716 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP6V0A2 CL E G H | 23545 | 278250 | Wrinkly skin syndrome | 278250 | C0406587 | OMIM | 1 | | 458 | 18481 | 611716 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 79 | 851 | 607027 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP6V1A CL E G H | 523 | 442835 | | | | ORPHA | 1 | | 93 | 851 | 607027 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP6V1A CL E G H | 523 | 618012 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 | 618012 | CN248521 | OMIM | 1 | | 79 | 851 | 607027 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP6V1A CL E G H | 523 | 618012 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 | 618012 | CN248521 | OMIM | 1 | | 93 | 851 | 607027 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP6V1B2 CL E G H | 526 | 3473 | Meningoencephalocele | | | ORPHA | 1 | | 115 | 854 | 606939 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP6V1B2 CL E G H | 526 | 3473 | Meningoencephalocele | | | ORPHA | 1 | | 118 | 854 | 606939 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 897 | 869 | 300011 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1003 | 869 | 300011 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 1 | | 897 | 869 | 300011 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 1 | | 1003 | 869 | 300011 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 897 | 869 | 300011 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP7A CL E G H | 538 | 309400 | Menkes kinky-hair syndrome | 309400 | C0022716 | OMIM | 1 | | 1003 | 869 | 300011 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 1389 | 870 | 606882 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP7B CL E G H | 540 | 905 | | | | ORPHA | 1 | | 1579 | 870 | 606882 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP8A2 CL E G H | 51761 | 1766 | | | | ORPHA | 1 | | 126 | 13533 | 605870 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP8A2 CL E G H | 51761 | 1766 | | | | ORPHA | 1 | | 193 | 13533 | 605870 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 126 | 13533 | 605870 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 193 | 13533 | 605870 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 755 | 882 | 601215 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATR CL E G H | 545 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 1007 | 882 | 601215 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATR CL E G H | 545 | 210600 | Seckel syndrome 1 | 210600 | CN033164 | OMIM | 1 | | 755 | 882 | 601215 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATR CL E G H | 545 | 210600 | Seckel syndrome 1 | 210600 | CN033164 | OMIM | 1 | | 1007 | 882 | 601215 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 239 | 33499 | 606605 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATRIP CL E G H | 84126 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 333 | 33499 | 606605 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATRX CL E G H | 546 | 847 | | | | ORPHA | 1 | | 1103 | 886 | 300032 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATRX CL E G H | 546 | 847 | | | | ORPHA | 1 | | 1217 | 886 | 300032 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1103 | 886 | 300032 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1217 | 886 | 300032 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 439 | 14262 | 607270 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 454 | 14262 | 607270 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AVPR2 CL E G H | 554 | 304800 | Nephrogenic diabetes insipidus, X-linked | 304800 | C1563705 | OMIM | 1 | | 371 | 897 | 300538 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | AVPR2 CL E G H | 554 | 304800 | Nephrogenic diabetes insipidus, X-linked | 304800 | C1563705 | OMIM | 1 | | 382 | 897 | 300538 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 343 | 28596 | 610194 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 411 | 28596 | 610194 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | B3GLCT CL E G H | 145173 | 709 | | | | ORPHA | 1 | | 226 | 20207 | 610308 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | B3GLCT CL E G H | 145173 | 709 | | | | ORPHA | 1 | | 248 | 20207 | 610308 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | B4GALNT1 CL E G H | 2583 | 101006 | | | | ORPHA | 1 | | 148 | 4117 | 601873 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | B4GALNT1 CL E G H | 2583 | 101006 | | | | ORPHA | 1 | | 169 | 4117 | 601873 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 122 | 15685 | 605517 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 151 | 15685 | 605517 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 196 | 24123 | 614144 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 230 | 24123 | 614144 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | B9D1 CL E G H | 27077 | 617120 | Joubert syndrome 27 | 617120 | C4310706 | OMIM | 1 | | 196 | 24123 | 614144 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | B9D1 CL E G H | 27077 | 617120 | Joubert syndrome 27 | 617120 | C4310706 | OMIM | 1 | | 230 | 24123 | 614144 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 191 | 961 | 605681 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 192 | 961 | 605681 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBIP1 CL E G H | 92482 | 110 | | | | ORPHA | 1 | | 59 | 28093 | 613605 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBIP1 CL E G H | 92482 | 110 | | | | ORPHA | 1 | | 71 | 28093 | 613605 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS1 CL E G H | 582 | 110 | | | | ORPHA | 1 | | 491 | 966 | 209901 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS1 CL E G H | 582 | 110 | | | | ORPHA | 1 | | 582 | 966 | 209901 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 491 | 966 | 209901 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 582 | 966 | 209901 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS10 CL E G H | 79738 | 110 | | | | ORPHA | 1 | | 438 | 26291 | 610148 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS10 CL E G H | 79738 | 110 | | | | ORPHA | 1 | | 528 | 26291 | 610148 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS12 CL E G H | 166379 | 110 | | | | ORPHA | 1 | | 355 | 26648 | 610683 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS12 CL E G H | 166379 | 110 | | | | ORPHA | 1 | | 439 | 26648 | 610683 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS2 CL E G H | 583 | 110 | | | | ORPHA | 1 | | 482 | 967 | 606151 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS2 CL E G H | 583 | 110 | | | | ORPHA | 1 | | 585 | 967 | 606151 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS2 CL E G H | 583 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 482 | 967 | 606151 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS2 CL E G H | 583 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 585 | 967 | 606151 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 482 | 967 | 606151 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS2 CL E G H | 583 | 615981 | Bardet-Biedl syndrome 2 | 615981 | C2936863 | OMIM | 1 | | 585 | 967 | 606151 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS4 CL E G H | 585 | 110 | | | | ORPHA | 1 | | 299 | 969 | 600374 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS4 CL E G H | 585 | 110 | | | | ORPHA | 1 | | 378 | 969 | 600374 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS5 CL E G H | 129880 | 110 | | | | ORPHA | 1 | | 147 | 970 | 603650 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS5 CL E G H | 129880 | 110 | | | | ORPHA | 1 | | 199 | 970 | 603650 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS7 CL E G H | 55212 | 110 | | | | ORPHA | 1 | | 254 | 18758 | 607590 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS7 CL E G H | 55212 | 110 | | | | ORPHA | 1 | | 326 | 18758 | 607590 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS7 CL E G H | 55212 | 615984 | Bardet-Biedl syndrome 7 | 615984 | C1859565 | OMIM | 1 | | 254 | 18758 | 607590 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS7 CL E G H | 55212 | 615984 | Bardet-Biedl syndrome 7 | 615984 | C1859565 | OMIM | 1 | | 326 | 18758 | 607590 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS9 CL E G H | 27241 | 110 | | | | ORPHA | 1 | | 426 | 30000 | 607968 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS9 CL E G H | 27241 | 110 | | | | ORPHA | 1 | | 512 | 30000 | 607968 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS9 CL E G H | 27241 | 615986 | Bardet-Biedl syndrome 9 | 615986 | C1859567 | OMIM | 1 | | 426 | 30000 | 607968 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BBS9 CL E G H | 27241 | 615986 | Bardet-Biedl syndrome 9 | 615986 | C1859567 | OMIM | 1 | | 512 | 30000 | 607968 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 384 | 986 | 608348 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 413 | 986 | 608348 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 448 | 987 | 248611 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 478 | 987 | 248611 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCKDK CL E G H | 10295 | 614923 | Branched-chain keto acid dehydrogenase kinase deficiency | 614923 | C3554078 | OMIM | 1 | | 93 | 16902 | 614901 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCKDK CL E G H | 10295 | 614923 | Branched-chain keto acid dehydrogenase kinase deficiency | 614923 | C3554078 | OMIM | 1 | | 101 | 16902 | 614901 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCL11A CL E G H | 53335 | 617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | 617101 | C4310833 | OMIM | 1 | | 125 | 13221 | 606557 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCL11A CL E G H | 53335 | 617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | 617101 | C4310833 | OMIM | 1 | | 129 | 13221 | 606557 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 118 | 13222 | 606558 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCL11B CL E G H | 64919 | 617237 | Immunodeficiency 49 | 617237 | C4310656 | OMIM | 1 | | 197 | 13222 | 606558 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCL11B CL E G H | 64919 | 618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | 618092 | CN253429 | OMIM | 1 | | 118 | 13222 | 606558 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCL11B CL E G H | 64919 | 618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | 618092 | CN253429 | OMIM | 1 | | 197 | 13222 | 606558 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCOR CL E G H | 54880 | 568 | Aggressive fibromatosis | | | ORPHA | 1 | | 502 | 20893 | 300485 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCOR CL E G H | 54880 | 568 | Aggressive fibromatosis | | | ORPHA | 1 | | 536 | 20893 | 300485 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCOR CL E G H | 54880 | 309800 | Lenz microphthalmia syndrome | 309800 | C0796016 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCR CL E G H | 613 | 261330 | | | | ORPHA | 1 | | 214 | 1014 | 151410 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCR CL E G H | 613 | 261330 | | | | ORPHA | 1 | | 217 | 1014 | 151410 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 249 | 1020 | 603647 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 279 | 1020 | 603647 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 249 | 1020 | 603647 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 279 | 1020 | 603647 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BDNF CL E G H | 627 | 893 | | | | ORPHA | 1 | | 56 | 1033 | 113505 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BEST1 CL E G H | 7439 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 499 | 12703 | 607854 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BEST1 CL E G H | 7439 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 595 | 12703 | 607854 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BPTF CL E G H | 2186 | 617755 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES | 617755 | C4540327 | OMIM | 1 | | 129 | 3581 | 601819 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BPTF CL E G H | 2186 | 617755 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES | 617755 | C4540327 | OMIM | 1 | | 139 | 3581 | 601819 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 618 | 1097 | 164757 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 680 | 1097 | 164757 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRAF CL E G H | 673 | 613707 | LEOPARD syndrome 3 | 613707 | C3150971 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRAF CL E G H | 673 | 613707 | LEOPARD syndrome 3 | 613707 | C3150971 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 618 | 1097 | 164757 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRAF CL E G H | 673 | 613706 | Noonan syndrome 7 | 613706 | C3150970 | OMIM | 1 | | 680 | 1097 | 164757 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 725 | 21701 | 614506 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 847 | 21701 | 614506 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 1 | | 12207 | 1100 | 113705 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRCA1 CL E G H | 672 | 84 | | | | ORPHA | 1 | | 12586 | 1100 | 113705 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRCA1 CL E G H | 672 | 617883 | FANCONI ANEMIA, COMPLEMENTATION GROUP S | 617883 | CN850168 | OMIM | 1 | | 12207 | 1100 | 113705 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRCA1 CL E G H | 672 | 617883 | FANCONI ANEMIA, COMPLEMENTATION GROUP S | 617883 | CN850168 | OMIM | 1 | | 12586 | 1100 | 113705 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 1 | | 13912 | 1101 | 600185 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRCA2 CL E G H | 675 | 84 | | | | ORPHA | 1 | | 14742 | 1101 | 600185 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRF1 CL E G H | 2972 | 616202 | Cerebellofaciodental syndrome | 616202 | C4015495 | OMIM | 1 | | 142 | 11551 | 604902 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRF1 CL E G H | 2972 | 616202 | Cerebellofaciodental syndrome | 616202 | C4015495 | OMIM | 1 | | 158 | 11551 | 604902 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 1 | | 3464 | 20473 | 605882 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRIP1 CL E G H | 83990 | 84 | | | | ORPHA | 1 | | 3778 | 20473 | 605882 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRPF1 CL E G H | 7862 | 617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | 617333 | C4310617 | OMIM | 1 | | 160 | 14255 | 602410 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BRPF1 CL E G H | 7862 | 617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | 617333 | C4310617 | OMIM | 1 | | 173 | 14255 | 602410 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 330 | 15832 | 606158 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BSCL2 CL E G H | 26580 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 373 | 15832 | 606158 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BSND CL E G H | 7809 | 602522 | Bartter syndrome type 4 | 602522 | C1865270 | OMIM | 1 | | 198 | 16512 | 606412 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BSND CL E G H | 7809 | 602522 | Bartter syndrome type 4 | 602522 | C1865270 | OMIM | 1 | | 209 | 16512 | 606412 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 86 | 1148 | 602452 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BUB1 CL E G H | 699 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 88 | 1148 | 602452 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 511 | 1149 | 602860 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BUB1B CL E G H | 701 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 617 | 1149 | 602860 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | BUB3 CL E G H | 9184 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 51 | 1151 | 603719 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | C12orf57 CL E G H | 113246 | 1777 | | | | ORPHA | 1 | | 199 | 29521 | 615140 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | C12orf57 CL E G H | 113246 | 1777 | | | | ORPHA | 1 | | 208 | 29521 | 615140 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | C8orf37 CL E G H | 157657 | 110 | | | | ORPHA | 1 | | | 27232 | 614477 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | C8orf37 CL E G H | 157657 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | | 27232 | 614477 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 104 | 1373 | 611492 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CA2 CL E G H | 760 | 2785 | | | | ORPHA | 1 | | 119 | 1373 | 611492 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 104 | 1373 | 611492 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 119 | 1373 | 611492 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CA4 CL E G H | 762 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 142 | 1375 | 114760 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CA4 CL E G H | 762 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 188 | 1375 | 114760 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CA8 CL E G H | 767 | 1766 | | | | ORPHA | 1 | | 77 | 1382 | 114815 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CA8 CL E G H | 767 | 1766 | | | | ORPHA | 1 | | 83 | 1382 | 114815 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 2047 | 1388 | 601011 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CACNA1A CL E G H | 773 | 442835 | | | | ORPHA | 1 | | 2326 | 1388 | 601011 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2047 | 1388 | 601011 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2326 | 1388 | 601011 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 357 | 1394 | 604065 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 374 | 1394 | 604065 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CAMK2A CL E G H | 815 | 617798 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 | 617798 | C4540481 | OMIM | 1 | | 56 | 1460 | 114078 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CAMK2A CL E G H | 815 | 617798 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 | 617798 | C4540481 | OMIM | 1 | | 62 | 1460 | 114078 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 88 | 1461 | 607707 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 169 | 1461 | 607707 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 185 | 19721 | 613165 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CANT1 CL E G H | 124583 | 1425 | Cole-Carpenter syndrome | | C1862178 | ORPHA | 1 | | 218 | 19721 | 613165 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CANT1 CL E G H | 124583 | 251450 | Desbuquois dysplasia 1 | 251450 | C4012146 | OMIM | 1 | | 185 | 19721 | 613165 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CANT1 CL E G H | 124583 | 251450 | Desbuquois dysplasia 1 | 251450 | C4012146 | OMIM | 1 | | 218 | 19721 | 613165 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CASK CL E G H | 8573 | 300422 | FG syndrome 4 | 300422 | CN033933 | OMIM | 1 | | 583 | 1497 | 300172 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CASK CL E G H | 8573 | 300422 | FG syndrome 4 | 300422 | CN033933 | OMIM | 1 | | 633 | 1497 | 300172 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 81 | 1527 | 601047 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CAV1 CL E G H | 857 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 85 | 1527 | 601047 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 109 | 9688 | 603198 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CAVIN1 CL E G H | 284119 | 528 | Acute myeloblastic leukemia type 3 | | | ORPHA | 1 | | 110 | 9688 | 603198 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CBS CL E G H | 875 | 394 | | | | ORPHA | 1 | | 792 | 1550 | 613381 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CBS CL E G H | 875 | 394 | | | | ORPHA | 1 | | 856 | 1550 | 613381 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CBS CL E G H | 875 | 236200 | Homocystinuria due to CBS deficiency | 236200 | C3150344 | OMIM | 1 | | 792 | 1550 | 613381 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CBS CL E G H | 875 | 236200 | Homocystinuria due to CBS deficiency | 236200 | C3150344 | OMIM | 1 | | 856 | 1550 | 613381 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 1 | | 881 | 29253 | 612013 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 1 | | 1064 | 29253 | 612013 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CC2D2A CL E G H | 57545 | 612285 | Joubert syndrome 9 | 612285 | C2676788 | OMIM | 1 | | 881 | 29253 | 612013 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CC2D2A CL E G H | 57545 | 612285 | Joubert syndrome 9 | 612285 | C2676788 | OMIM | 1 | | 1064 | 29253 | 612013 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CCBE1 CL E G H | 147372 | 2136 | Epidermal nevus vitamin D resistant rickets | | | ORPHA | 1 | | 349 | 29426 | 612753 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CCBE1 CL E G H | 147372 | 2136 | Epidermal nevus vitamin D resistant rickets | | | ORPHA | 1 | | 413 | 29426 | 612753 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 349 | 29426 | 612753 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CCBE1 CL E G H | 147372 | 235510 | Hennekam lymphangiectasia-lymphedema syndrome | 235510 | C0340834 | OMIM | 1 | | 413 | 29426 | 612753 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 242 | 28909 | 300859 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 250 | 28909 | 300859 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CCDC88C CL E G H | 440193 | 236600 | Congenital hydrocephalus 1 | 236600 | C3887608 | OMIM | 1 | | 258 | 19967 | 611204 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CCDC88C CL E G H | 440193 | 236600 | Congenital hydrocephalus 1 | 236600 | C3887608 | OMIM | 1 | | 265 | 19967 | 611204 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CD96 CL E G H | 10225 | 1308 | Chorioretinopathy dominant form microcephaly | | | ORPHA | 1 | | 56 | 16892 | 606037 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CD96 CL E G H | 10225 | 1308 | Chorioretinopathy dominant form microcephaly | | | ORPHA | 1 | | 62 | 16892 | 606037 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CDC42 CL E G H | 998 | 616737 | Takenouchi-Kosaki syndrome | 616737 | C4225222 | OMIM | 1 | | 44 | 1736 | 116952 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CDC42 CL E G H | 998 | 616737 | Takenouchi-Kosaki syndrome | 616737 | C4225222 | OMIM | 1 | | 48 | 1736 | 116952 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CDCA7 CL E G H | 83879 | 2268 | | | | ORPHA | 1 | | 56 | 14628 | 609937 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CDCA7 CL E G H | 83879 | 2268 | | | | ORPHA | 1 | | 103 | 14628 | 609937 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CDH11 CL E G H | 1009 | 211380 | Brachioskeletogenital syndrome | 211380 | C0809936 | OMIM | 1 | | 52 | 1750 | 600023 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CDH11 CL E G H | 1009 | 211380 | Brachioskeletogenital syndrome | 211380 | C0809936 | OMIM | 1 | | 59 | 1750 | 600023 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CDH23 CL E G H | 64072 | 231169 | | | | ORPHA | 1 | | 2612 | 13733 | 605516 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CDH23 CL E G H | 64072 | 231169 | | | | ORPHA | 1 | | 3075 | 13733 | 605516 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CDHR1 CL E G H | 92211 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 496 | 14550 | 609502 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CDHR1 CL E G H | 92211 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 623 | 14550 | 609502 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CDK13 CL E G H | 8621 | 617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 617360 | C4479246 | OMIM | 1 | | 191 | 1733 | 603309 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CDK13 CL E G H | 8621 | 617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 617360 | C4479246 | OMIM | 1 | | 210 | 1733 | 603309 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CDKL5 CL E G H | 6792 | 3095 | | | | ORPHA | 1 | | 1270 | 11411 | 300203 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CDKL5 CL E G H | 6792 | 3095 | | | | ORPHA | 1 | | 1399 | 11411 | 300203 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CDON CL E G H | 50937 | 280200 | | | | ORPHA | 1 | | 489 | 17104 | 608707 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CDON CL E G H | 50937 | 280200 | | | | ORPHA | 1 | | 518 | 17104 | 608707 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CENPE CL E G H | 1062 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 252 | 1856 | 117143 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CENPE CL E G H | 1062 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 262 | 1856 | 117143 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CENPJ CL E G H | 55835 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 347 | 17272 | 609279 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CENPJ CL E G H | 55835 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 399 | 17272 | 609279 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 354 | 24866 | 616690 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 384 | 24866 | 616690 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 1 | | 210 | 26690 | 613446 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 1 | | 250 | 26690 | 613446 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 210 | 26690 | 613446 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 250 | 26690 | 613446 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP152 CL E G H | 22995 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 334 | 29298 | 613529 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP152 CL E G H | 22995 | 808 | Baker Vinters syndrome | | | ORPHA | 1 | | 404 | 29298 | 613529 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP152 CL E G H | 22995 | 613823 | Seckel syndrome 5 | 613823 | C3151187 | OMIM | 1 | | 334 | 29298 | 613529 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP152 CL E G H | 22995 | 613823 | Seckel syndrome 5 | 613823 | C3151187 | OMIM | 1 | | 404 | 29298 | 613529 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP290 CL E G H | 80184 | 110 | | | | ORPHA | 1 | | 1535 | 29021 | 610142 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP290 CL E G H | 80184 | 110 | | | | ORPHA | 1 | | 1902 | 29021 | 610142 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 1 | | 1535 | 29021 | 610142 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 1 | | 1902 | 29021 | 610142 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP290 CL E G H | 80184 | 615991 | Bardet-Biedl syndrome 14 | 615991 | C2673874 | OMIM | 1 | | 1535 | 29021 | 610142 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP290 CL E G H | 80184 | 615991 | Bardet-Biedl syndrome 14 | 615991 | C2673874 | OMIM | 1 | | 1902 | 29021 | 610142 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP290 CL E G H | 80184 | 610188 | Joubert syndrome 5 | 610188 | C1857780 | OMIM | 1 | | 1535 | 29021 | 610142 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP290 CL E G H | 80184 | 610188 | Joubert syndrome 5 | 610188 | C1857780 | OMIM | 1 | | 1902 | 29021 | 610142 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 1 | | 297 | 12370 | 610523 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 1 | | 347 | 12370 | 610523 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 297 | 12370 | 610523 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 347 | 12370 | 610523 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP41 CL E G H | 95681 | 614464 | Joubert syndrome 15 | 614464 | C3280897 | OMIM | 1 | | 297 | 12370 | 610523 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP41 CL E G H | 95681 | 614464 | Joubert syndrome 15 | 614464 | C3280897 | OMIM | 1 | | 347 | 12370 | 610523 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 212 | 30794 | 607951 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP57 CL E G H | 9702 | 1052 | Mosaic variegated aneuploidy syndrome | | C1850343 | ORPHA | 1 | | 275 | 30794 | 607951 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP63 CL E G H | 80254 | 614728 | Seckel syndrome 6 | 614728 | C3553582 | OMIM | 1 | | 167 | 25815 | 614724 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CEP63 CL E G H | 80254 | 614728 | Seckel syndrome 6 | 614728 | C3553582 | OMIM | 1 | | 200 | 25815 | 614724 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CERKL CL E G H | 375298 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 427 | 21699 | 608381 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CERKL CL E G H | 375298 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 502 | 21699 | 608381 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 223 | 14253 | 606919 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CERS1 CL E G H | 10715 | 616230 | Epilepsy, progressive myoclonic 8 | 616230 | C4015619 | OMIM | 1 | | 289 | 14253 | 606919 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 191 | 20311 | 616327 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 202 | 20311 | 616327 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 1 | | 511 | 1912 | 118490 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 1 | | 652 | 1912 | 118490 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHD1 CL E G H | 1105 | 529965 | | | | ORPHA | 1 | | 67 | 1915 | 602118 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHD1 CL E G H | 1105 | 529965 | | | | ORPHA | 1 | | 74 | 1915 | 602118 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHD1 CL E G H | 1105 | 617682 | PILAROWSKI-BJORNSSON SYNDROME | 617682 | C4540131 | OMIM | 1 | | 67 | 1915 | 602118 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHD1 CL E G H | 1105 | 617682 | PILAROWSKI-BJORNSSON SYNDROME | 617682 | C4540131 | OMIM | 1 | | 74 | 1915 | 602118 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1163 | 1917 | 602119 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHD2 CL E G H | 1106 | 2382 | | | | ORPHA | 1 | | 1326 | 1917 | 602119 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHD2 CL E G H | 1106 | 615369 | Epileptic encephalopathy, childhood-onset | 615369 | C3809278 | OMIM | 1 | | 1163 | 1917 | 602119 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHD2 CL E G H | 1106 | 615369 | Epileptic encephalopathy, childhood-onset | 615369 | C3809278 | OMIM | 1 | | 1326 | 1917 | 602119 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHD4 CL E G H | 1108 | 617159 | Sifrim-Hitz-Weiss syndrome | 617159 | C4310688 | OMIM | 1 | | 190 | 1919 | 603277 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHD4 CL E G H | 1108 | 617159 | Sifrim-Hitz-Weiss syndrome | 617159 | C4310688 | OMIM | 1 | | 217 | 1919 | 603277 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 1752 | 20626 | 608892 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 1980 | 20626 | 608892 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHKB CL E G H | 1120 | 602541 | Muscular dystrophy, congenital, megaconial type | 602541 | C1865233 | OMIM | 1 | | 335 | 1938 | 612395 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHKB CL E G H | 1120 | 602541 | Muscular dystrophy, congenital, megaconial type | 602541 | C1865233 | OMIM | 1 | | 382 | 1938 | 612395 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHMP1A CL E G H | 5119 | 614961 | Pontocerebellar hypoplasia type 8 | 614961 | C3554209 | OMIM | 1 | | 172 | 8740 | 164010 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHMP1A CL E G H | 5119 | 614961 | Pontocerebellar hypoplasia type 8 | 614961 | C3554209 | OMIM | 1 | | 183 | 8740 | 164010 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHRNA7 CL E G H | 1139 | 199318 | | | | ORPHA | 1 | | 340 | 1960 | 118511 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CHRNA7 CL E G H | 1139 | 199318 | | | | ORPHA | 1 | | 346 | 1960 | 118511 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CIB2 CL E G H | 10518 | 231169 | | | | ORPHA | 1 | | 137 | 24579 | 605564 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CIB2 CL E G H | 10518 | 231169 | | | | ORPHA | 1 | | 163 | 24579 | 605564 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CIC CL E G H | 23152 | 617600 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 | 617600 | C4539848 | OMIM | 1 | | 191 | 14214 | 612082 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CIC CL E G H | 23152 | 617600 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 | 617600 | C4539848 | OMIM | 1 | | 212 | 14214 | 612082 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CIT CL E G H | 11113 | 617090 | Microcephaly 17, primary, autosomal recessive | 617090 | C4310723 | OMIM | 1 | | 319 | 1985 | 605629 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CIT CL E G H | 11113 | 617090 | Microcephaly 17, primary, autosomal recessive | 617090 | C4310723 | OMIM | 1 | | 329 | 1985 | 605629 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CKAP2L CL E G H | 150468 | 272440 | Filippi syndrome | 272440 | C0795940 | OMIM | 1 | | 78 | 26877 | 616174 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CKAP2L CL E G H | 150468 | 272440 | Filippi syndrome | 272440 | C0795940 | OMIM | 1 | | 94 | 26877 | 616174 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 78 | 26877 | 616174 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 94 | 26877 | 616174 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLCN4 CL E G H | 1183 | 777 | Arthrogryposis multiplex congenita | | C0003886 | ORPHA | 1 | | 479 | 2022 | 302910 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLCN4 CL E G H | 1183 | 777 | Arthrogryposis multiplex congenita | | C0003886 | ORPHA | 1 | | 512 | 2022 | 302910 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLCNKA CL E G H | 1187 | 613090 | Bartter syndrome, type 4b | 613090 | C2751312 | OMIM | 1 | | 186 | 2026 | 602024 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLCNKA CL E G H | 1187 | 613090 | Bartter syndrome, type 4b | 613090 | C2751312 | OMIM | 1 | | 187 | 2026 | 602024 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLCNKB CL E G H | 1188 | 613090 | Bartter syndrome, type 4b | 613090 | C2751312 | OMIM | 1 | | 304 | 2027 | 602023 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLCNKB CL E G H | 1188 | 613090 | Bartter syndrome, type 4b | 613090 | C2751312 | OMIM | 1 | | 338 | 2027 | 602023 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 176 | 2586 | 603432 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 177 | 2586 | 603432 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 682 | 2074 | 607042 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLN3 CL E G H | 1201 | 204200 | Juvenile neuronal ceroid lipofuscinosis | 204200 | C0751383 | OMIM | 1 | | 766 | 2074 | 607042 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 449 | 2076 | 608102 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 509 | 2076 | 608102 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 431 | 2079 | 607837 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLN8 CL E G H | 2055 | 1947 | | | | ORPHA | 1 | | 483 | 2079 | 607837 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 431 | 2079 | 607837 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLN8 CL E G H | 2055 | 610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | 610003 | C1864923 | OMIM | 1 | | 483 | 2079 | 607837 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 40 | 16999 | 608757 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLP1 CL E G H | 10978 | 411493 | | | | ORPHA | 1 | | 49 | 16999 | 608757 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 337 | 30664 | 616254 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 404 | 30664 | 616254 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLRN1 CL E G H | 7401 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 242 | 12605 | 606397 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLRN1 CL E G H | 7401 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 272 | 12605 | 606397 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 102 | 2092 | 118955 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLTC CL E G H | 1213 | 442835 | | | | ORPHA | 1 | | 202 | 2092 | 118955 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLTC CL E G H | 1213 | 617854 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 | 617854 | CN787270 | OMIM | 1 | | 102 | 2092 | 118955 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CLTC CL E G H | 1213 | 617854 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 | 617854 | CN787270 | OMIM | 1 | | 202 | 2092 | 118955 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CNGA1 CL E G H | 1259 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 243 | 2148 | 123825 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CNGA1 CL E G H | 1259 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 304 | 2148 | 123825 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CNGB1 CL E G H | 1258 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 642 | 2151 | 600724 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CNGB1 CL E G H | 1258 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 799 | 2151 | 600724 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 249 | 19701 | 300724 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CNKSR2 CL E G H | 22866 | 442835 | | | | ORPHA | 1 | | 256 | 19701 | 300724 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CNKSR2 CL E G H | 22866 | 777 | Arthrogryposis multiplex congenita | | C0003886 | ORPHA | 1 | | 249 | 19701 | 300724 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CNKSR2 CL E G H | 22866 | 777 | Arthrogryposis multiplex congenita | | C0003886 | ORPHA | 1 | | 256 | 19701 | 300724 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CNNM2 CL E G H | 54805 | 616418 | Hypomagnesemia, seizures, and mental retardation | 616418 | C4225333 | OMIM | 1 | | 176 | 103 | 607803 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CNNM2 CL E G H | 54805 | 616418 | Hypomagnesemia, seizures, and mental retardation | 616418 | C4225333 | OMIM | 1 | | 191 | 103 | 607803 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1339 | 13830 | 604569 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1505 | 13830 | 604569 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 27 | 25716 | 615623 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 31 | 25716 | 615623 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COG5 CL E G H | 10466 | 613612 | Congenital disorder of glycosylation type 2i | 613612 | C3150876 | OMIM | 1 | | 311 | 14857 | 606821 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COG5 CL E G H | 10466 | 613612 | Congenital disorder of glycosylation type 2i | 613612 | C3150876 | OMIM | 1 | | 490 | 14857 | 606821 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COG6 CL E G H | 57511 | 614576 | Congenital disorder of glycosylation type 2L | 614576 | C3553230 | OMIM | 1 | | 281 | 18621 | 606977 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COG6 CL E G H | 57511 | 614576 | Congenital disorder of glycosylation type 2L | 614576 | C3553230 | OMIM | 1 | | 297 | 18621 | 606977 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COG6 CL E G H | 57511 | 615328 | Shaheen syndrome | 615328 | C3809160 | OMIM | 1 | | 281 | 18621 | 606977 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COG6 CL E G H | 57511 | 615328 | Shaheen syndrome | 615328 | C3809160 | OMIM | 1 | | 297 | 18621 | 606977 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 156 | 18623 | 606979 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 177 | 18623 | 606979 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 1 | | 179 | 2190 | 120350 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 1 | | 294 | 2190 | 120350 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COL3A1 CL E G H | 1281 | 2500 | Glucocorticoid sensitive hypertension | | | ORPHA | 1 | | 1935 | 2201 | 120180 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COL3A1 CL E G H | 1281 | 2500 | Glucocorticoid sensitive hypertension | | | ORPHA | 1 | | 2083 | 2201 | 120180 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 837 | 2202 | 120130 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1010 | 2202 | 120130 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COL4A1 CL E G H | 1282 | 175780 | Porencephaly 1 | 175780 | CN032791 | OMIM | 1 | | 837 | 2202 | 120130 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COL4A1 CL E G H | 1282 | 175780 | Porencephaly 1 | 175780 | CN032791 | OMIM | 1 | | 1010 | 2202 | 120130 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COL4A3BP CL E G H | 10087 | 616351 | Mental retardation, autosomal dominant 34 | 616351 | C4225156 | OMIM | 1 | | | 2205 | 604677 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COLEC10 CL E G H | 10584 | 293843 | | | | ORPHA | 1 | | 54 | 2220 | 607620 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COLEC10 CL E G H | 10584 | 293843 | | | | ORPHA | 1 | | 55 | 2220 | 607620 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 54 | 2220 | 607620 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COLEC10 CL E G H | 10584 | 248340 | Malpuech facial clefting syndrome | 248340 | C0796032 | OMIM | 1 | | 55 | 2220 | 607620 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COLEC11 CL E G H | 78989 | 293843 | | | | ORPHA | 1 | | 62 | 17213 | 612502 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COLEC11 CL E G H | 78989 | 293843 | | | | ORPHA | 1 | | 65 | 17213 | 612502 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 137 | 25223 | 609825 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 171 | 25223 | 609825 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 247 | 2260 | 602125 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 263 | 2260 | 602125 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 247 | 2260 | 602125 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 263 | 2260 | 602125 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 24 | 28216 | 614478 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 28 | 28216 | 614478 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 216 | 2263 | 603646 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 233 | 2263 | 603646 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 139 | 26970 | 614698 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 155 | 26970 | 614698 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 44 | 2280 | 124089 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 52 | 2280 | 124089 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 18 | 2294 | 123870 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CPLANE1 CL E G H | 65250 | 2754 | | | | ORPHA | 1 | | 824 | 25801 | 614571 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CPLANE1 CL E G H | 65250 | 2754 | | | | ORPHA | 1 | | 1239 | 25801 | 614571 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 824 | 25801 | 614571 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 1239 | 25801 | 614571 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CPLANE1 CL E G H | 65250 | 277170 | Orofaciodigital syndrome 6 | 277170 | C2745997 | OMIM | 1 | | 824 | 25801 | 614571 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CPLANE1 CL E G H | 65250 | 277170 | Orofaciodigital syndrome 6 | 277170 | C2745997 | OMIM | 1 | | 1239 | 25801 | 614571 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CPLX1 CL E G H | 10815 | 617976 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 | 617976 | CN244926 | OMIM | 1 | | 151 | 2309 | 605032 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CPLX1 CL E G H | 10815 | 617976 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 | 617976 | CN244926 | OMIM | 1 | | 163 | 2309 | 605032 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CPS1 CL E G H | 1373 | 237300 | Congenital hyperammonemia, type I | 237300 | C0751753 | OMIM | 1 | | 814 | 2323 | 608307 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CPS1 CL E G H | 1373 | 237300 | Congenital hyperammonemia, type I | 237300 | C0751753 | OMIM | 1 | | 910 | 2323 | 608307 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CRADD CL E G H | 8738 | 614499 | Mental retardation, autosomal recessive 34 | 614499 | C3281044 | OMIM | 1 | | 44 | 2340 | 603454 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CRADD CL E G H | 8738 | 614499 | Mental retardation, autosomal recessive 34 | 614499 | C3281044 | OMIM | 1 | | 46 | 2340 | 603454 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CRB1 CL E G H | 23418 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 894 | 2343 | 604210 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CRB1 CL E G H | 23418 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 1085 | 2343 | 604210 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1012 | 2348 | 600140 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1071 | 2348 | 600140 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CRKL CL E G H | 1399 | 261330 | | | | ORPHA | 1 | | 398 | 2363 | 602007 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CRKL CL E G H | 1399 | 261330 | | | | ORPHA | 1 | | 406 | 2363 | 602007 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CRX CL E G H | 1406 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 361 | 2383 | 602225 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CRX CL E G H | 1406 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 419 | 2383 | 602225 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CSNK2A1 CL E G H | 1457 | 617062 | Okur-chung neurodevelopmental syndrome | 617062 | C4310739 | OMIM | 1 | | 177 | 2457 | 115440 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CSNK2A1 CL E G H | 1457 | 617062 | Okur-chung neurodevelopmental syndrome | 617062 | C4310739 | OMIM | 1 | | 182 | 2457 | 115440 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 476 | 26193 | 611654 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 687 | 26193 | 611654 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 476 | 26193 | 611654 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 687 | 26193 | 611654 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CTCF CL E G H | 10664 | 615502 | Mental retardation, autosomal dominant 21 | 615502 | C3809686 | OMIM | 1 | | 190 | 13723 | 604167 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CTCF CL E G H | 10664 | 615502 | Mental retardation, autosomal dominant 21 | 615502 | C3809686 | OMIM | 1 | | 201 | 13723 | 604167 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 323 | 2498 | 604927 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 348 | 2498 | 604927 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CTNNB1 CL E G H | 1499 | 615075 | Mental retardation, autosomal dominant 19 | 615075 | C3554449 | OMIM | 1 | | 269 | 2514 | 116806 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CTNNB1 CL E G H | 1499 | 615075 | Mental retardation, autosomal dominant 19 | 615075 | C3554449 | OMIM | 1 | | 364 | 2514 | 116806 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CTSA CL E G H | 5476 | 351 | | | | ORPHA | 1 | | 149 | 9251 | 613111 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CTSA CL E G H | 5476 | 351 | | | | ORPHA | 1 | | 210 | 9251 | 613111 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 310 | 2555 | 300304 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 322 | 2555 | 300304 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 68 | 19347 | 610648 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CUX2 CL E G H | 23316 | 2382 | | | | ORPHA | 1 | | 75 | 19347 | 610648 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 1 | | 135 | 10664 | 617170 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CWC27 CL E G H | 10283 | 250410 | Retinitis pigmentosa with or without skeletal anomalies | 250410 | C1855188 | OMIM | 1 | | 196 | 10664 | 617170 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CWF19L1 CL E G H | 55280 | 616127 | Spinocerebellar ataxia, autosomal recessive 17 | 616127 | C4015301 | OMIM | 1 | | 59 | 25613 | 616120 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CXorf56 CL E G H | 63932 | 777 | Arthrogryposis multiplex congenita | | C0003886 | ORPHA | 1 | | | 26239 | 301012 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CXorf56 CL E G H | 63932 | 301013 | MENTAL RETARDATION, X-LINKED 107 | 301013 | CN244560 | OMIM | 1 | | | 26239 | 301012 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 134 | 2873 | 613213 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CYB5R3 CL E G H | 1727 | 250800 | Deficiency of cytochrome-b5 reductase | 250800 | C0268193 | OMIM | 1 | | 144 | 2873 | 613213 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 84 | 13760 | 606323 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CYFIP2 CL E G H | 26999 | 442835 | | | | ORPHA | 1 | | 175 | 13760 | 606323 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CYP24A1 CL E G H | 1591 | 143880 | Idiopathic hypercalcemia of infancy | 143880 | C0268080 | OMIM | 1 | | 201 | 2602 | 126065 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CYP24A1 CL E G H | 1591 | 143880 | Idiopathic hypercalcemia of infancy | 143880 | C0268080 | OMIM | 1 | | 220 | 2602 | 126065 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 439 | 2605 | 606530 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 599 | 2605 | 606530 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CYP27A1 CL E G H | 1593 | 213700 | Cholestanol storage disease | 213700 | C0238052 | OMIM | 1 | | 439 | 2605 | 606530 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | CYP27A1 CL E G H | 1593 | 213700 | Cholestanol storage disease | 213700 | C0238052 | OMIM | 1 | | 599 | 2605 | 606530 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | D2HGDH CL E G H | 728294 | 600721 | D-2-hydroxyglutaric aciduria 1 | 600721 | C3152055 | OMIM | 1 | | 331 | 28358 | 609186 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | D2HGDH CL E G H | 728294 | 600721 | D-2-hydroxyglutaric aciduria 1 | 600721 | C3152055 | OMIM | 1 | | 357 | 28358 | 609186 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 376 | 2666 | 128239 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 467 | 2666 | 128239 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DAG1 CL E G H | 1605 | 613818 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 | 613818 | C3151184 | OMIM | 1 | | 376 | 2666 | 128239 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DAG1 CL E G H | 1605 | 613818 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 | 613818 | C3151184 | OMIM | 1 | | 467 | 2666 | 128239 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 467 | 2698 | 248610 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 511 | 2698 | 248610 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 229 | 25784 | 612515 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 251 | 25784 | 612515 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 229 | 25784 | 612515 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 251 | 25784 | 612515 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DCC CL E G H | 1630 | 617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2 | 617542 | C4479640 | OMIM | 1 | | 160 | 2701 | 120470 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DCC CL E G H | 1630 | 617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2 | 617542 | C4479640 | OMIM | 1 | | 162 | 2701 | 120470 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 347 | 13681 | 603057 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DCHS1 CL E G H | 8642 | 601390 | 601390 | 601390 | | OMIM | 1 | | 502 | 13681 | 603057 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DCX CL E G H | 1641 | 300067 | Lissencephaly, X-linked | 300067 | C1848199 | OMIM | 1 | | 357 | 2714 | 300121 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DCX CL E G H | 1641 | 300067 | Lissencephaly, X-linked | 300067 | C1848199 | OMIM | 1 | | 368 | 2714 | 300121 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DDHD2 CL E G H | 23259 | 320380 | | | | ORPHA | 1 | | 192 | 29106 | 615003 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DDHD2 CL E G H | 23259 | 320380 | | | | ORPHA | 1 | | 230 | 29106 | 615003 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 192 | 29106 | 615003 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DDHD2 CL E G H | 23259 | 615033 | Spastic paraplegia 54, autosomal recessive | 615033 | C3539495 | OMIM | 1 | | 230 | 29106 | 615003 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DDX11 CL E G H | 1663 | 613398 | Warsaw breakage syndrome | 613398 | C3150658 | OMIM | 1 | | 123 | 2736 | 601150 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DDX11 CL E G H | 1663 | 613398 | Warsaw breakage syndrome | 613398 | C3150658 | OMIM | 1 | | 126 | 2736 | 601150 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DDX3X CL E G H | 1654 | 457260 | | | | ORPHA | 1 | | 461 | 2745 | 300160 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DDX3X CL E G H | 1654 | 457260 | | | | ORPHA | 1 | | 496 | 2745 | 300160 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DDX3X CL E G H | 1654 | 300958 | Mental retardation, X-linked 102 | 300958 | C4085582 | OMIM | 1 | | 461 | 2745 | 300160 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DDX3X CL E G H | 1654 | 300958 | Mental retardation, X-linked 102 | 300958 | C4085582 | OMIM | 1 | | 496 | 2745 | 300160 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DDX59 CL E G H | 83479 | 2919 | | | | ORPHA | 1 | | 48 | 25360 | 615464 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DDX59 CL E G H | 83479 | 2919 | | | | ORPHA | 1 | | 56 | 25360 | 615464 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DDX59 CL E G H | 83479 | 174300 | Orofaciodigital syndrome 5 | 174300 | C1868118 | OMIM | 1 | | 48 | 25360 | 615464 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DDX59 CL E G H | 83479 | 174300 | Orofaciodigital syndrome 5 | 174300 | C1868118 | OMIM | 1 | | 56 | 25360 | 615464 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 179 | 14677 | 602635 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 311 | 14677 | 602635 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 179 | 14677 | 602635 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DEAF1 CL E G H | 10522 | 617171 | Dyskinesia, seizures, and intellectual developmental disorder | 617171 | C4310683 | OMIM | 1 | | 311 | 14677 | 602635 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DEAF1 CL E G H | 10522 | 615828 | Mental retardation, autosomal dominant 24 | 615828 | C4014414 | OMIM | 1 | | 179 | 14677 | 602635 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DEAF1 CL E G H | 10522 | 615828 | Mental retardation, autosomal dominant 24 | 615828 | C4014414 | OMIM | 1 | | 311 | 14677 | 602635 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 180 | 2859 | 606418 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DHCR24 CL E G H | 1718 | 35107 | | | | ORPHA | 1 | | 198 | 2859 | 606418 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DHCR7 CL E G H | 1717 | 818 | | | | ORPHA | 1 | | 511 | 2860 | 602858 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DHCR7 CL E G H | 1717 | 818 | | | | ORPHA | 1 | | 546 | 2860 | 602858 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 511 | 2860 | 602858 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DHCR7 CL E G H | 1717 | 270400 | Smith-Lemli-Opitz syndrome | 270400 | C0175694 | OMIM | 1 | | 546 | 2860 | 602858 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 199 | 20603 | 608172 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DHDDS CL E G H | 79947 | 442835 | | | | ORPHA | 1 | | 256 | 20603 | 608172 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DHDDS CL E G H | 79947 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 199 | 20603 | 608172 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DHDDS CL E G H | 79947 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 256 | 20603 | 608172 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 199 | 20603 | 608172 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 256 | 20603 | 608172 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 49 | 16716 | 616423 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 58 | 16716 | 616423 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DHX38 CL E G H | 9785 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 328 | 17211 | 605584 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DHX38 CL E G H | 9785 | 791 | Arthrogryposis multiplex congenita pulmonary hypoplasia | | | ORPHA | 1 | | 470 | 17211 | 605584 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DIP2B CL E G H | 57609 | 136630 | Mental retardation, fra12a type | 136630 | C1969893 | OMIM | 1 | | 42 | 29284 | 611379 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DIP2B CL E G H | 57609 | 136630 | Mental retardation, fra12a type | 136630 | C1969893 | OMIM | 1 | | 44 | 29284 | 611379 |
HP:0001249 | HP:0001249 | Intellectual disability | 0 | DIS3L2 CL E G H | 129563 | 2849 | | | | ORPHA | 1 | | 1249 | 28648 | 614184 |
|