Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ABCB11 CL E G H | 8647 | 42 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | | | | 146 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | | | | 111 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | | | | 91 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ADGRL1 CL E G H | 22859 | 20973 | OMIM:620065 | | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ADH1C CL E G H | 126 | 251 | OMIM:168600 | Parkinson disease, late-onset | . | | | 4 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | | | | 6 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040283 - Occasional | | | 76 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | | | | 36 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | | | | 36 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:101078 | X-linked Charcot-Marie-Tooth disease type 4 | HP:0040283 - Occasional | | | 60 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040282 - Frequent | | | 74 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | | | | 96 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040284 - Very rare | | | 404 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ANK3 CL E G H | 288 | 494 | ORPHA:356996 | ANK3-related intellectual disability-sleep disturbance syndrome | HP:0040282 - Frequent | | | 176 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ANK3 CL E G H | 288 | 494 | OMIM:615493 | Mental retardation, autosomal recessive 37 | . | | | 176 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | AP3B2 CL E G H | 8120 | 567 | OMIM:617276 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48 | | | | 7 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | APOE CL E G H | 348 | 613 | OMIM:606889 | Alzheimer disease 4 | | | | 39 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | | | | 120 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 166 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ASCL1 CL E G H | 429 | 738 | ORPHA:99803 | Haddad syndrome | | | | 15 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ASPA CL E G H | 443 | 756 | ORPHA:314911 | Severe Canavan disease | HP:0040282 - Frequent | | | 48 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ATAD1 CL E G H | 84896 | 25903 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040282 - Frequent | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ATAD3A CL E G H | 55210 | 25567 | ORPHA:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | | | | 16 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 4 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:619605 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98 | | | | 239 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ATP8B1 CL E G H | 5205 | 3706 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | | | | 144 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ATXN10 CL E G H | 25814 | 10549 | ORPHA:98761 | Spinocerebellar ataxia type 10 | HP:0040283 - Occasional | | | 9 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:168600 | Parkinson disease, late-onset | . | | | 11 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | HP:0040283 - Occasional | | | 14 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | HP:0040283 - Occasional | | | 14 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | HP:0040283 - Occasional | | | 14 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ATXN7 CL E G H | 6314 | 10560 | ORPHA:94147 | Spinocerebellar ataxia type 7 | | | | 8 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 276 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | HP:0040282 - Frequent | | | 105 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CABP4 CL E G H | 57010 | 1386 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 94 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CARS1 CL E G H | 833 | 1493 | OMIM:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 118 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 405 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | | | | 405 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 405 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | | | | 200 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | | | | 200 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 200 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 200 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CHD8 CL E G H | 57680 | 20153 | OMIM:615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | | | | 72 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CHKA CL E G H | 1119 | 1937 | OMIM:620023 | | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CHRNA2 CL E G H | 1135 | 1956 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 188 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CHRNA4 CL E G H | 1137 | 1958 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 225 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CHRNB2 CL E G H | 1141 | 1962 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 88 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CIC CL E G H | 23152 | 14214 | OMIM:617600 | Mental retardation, autosomal dominant 45 | | | | 39 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CLN5 CL E G H | 1203 | 2076 | ORPHA:228360 | CLN5 disease | HP:0040282 - Frequent | | | 141 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:619033 | VISSERS-BODMER SYNDROME; VIBOS | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | | | | 749 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 90 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | | | | 54 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | | | | 54 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 5 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | | | | 72 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | | | | 291 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | | | | 291 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CRH CL E G H | 1392 | 2355 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CRY1 CL E G H | 1407 | 2384 | OMIM:614163 | Delayed sleep phase disorder, susceptibility to | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CSNK1D CL E G H | 1453 | 2452 | OMIM:615224 | Advanced sleep phase syndrome, familial, 2 | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 88 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:404473 | Severe intellectual disability-progressive spastic diplegia syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CTSH CL E G H | 1512 | 2535 | ORPHA:2073 | Narcolepsy type 1 | HP:0040281 - Very frequent | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | HP:0040282 - Frequent | | | 80 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 86 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:168605 | Perry syndrome | . | | | 86 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:178509 | Perry syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DEAF1 CL E G H | 10522 | 14677 | OMIM:617171 | Dyskinesia, seizures, and intellectual developmental disorder | . | | | 33 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DEPDC5 CL E G H | 9681 | 18423 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 172 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | | | | 22 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | | | | 22 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 22 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 22 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DMPK CL E G H | 1760 | 2933 | OMIM:160900 | Myotonic dystrophy 1 | | | | 152 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | | | | 41 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | | | | 41 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | | | | 6 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DNMT1 CL E G H | 1786 | 2976 | ORPHA:314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | | | | 145 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | | | | 145 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:614116 | Neuropathy, hereditary sensory, type IE | | | | 145 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 91 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DPYS CL E G H | 1807 | 3013 | OMIM:222748 | Dihydropyrimidinuria | | | | 44 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | | | | 121 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040283 - Occasional | | | 134 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | | | | 6 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040283 - Occasional | | | 223 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | EIF3F CL E G H | 8665 | 3275 | OMIM:618295 | Intellectual developmental disorder, autosomal recessive 67 | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | EMC10 CL E G H | 284361 | 27609 | OMIM:619264 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | EML1 CL E G H | 2009 | 3330 | OMIM:600348 | Band heterotopia | . | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | | | | 250 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | EPG5 CL E G H | 57724 | 29331 | ORPHA:1493 | Vici syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | EPM2A CL E G H | 7957 | 3413 | ORPHA:501 | Lafora disease | HP:0040283 - Occasional | | | 83 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 158 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 199 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 55 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | | | | 36 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | | | | 64 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FBXL3 CL E G H | 26224 | 13599 | OMIM:606220 | Intellectual developmental disorder with short stature, facial anomalies, and speech defects | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FBXO11 CL E G H | 80204 | 13590 | OMIM:618089 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | | | | 7 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | | | | 17 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | | | | 17 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 17 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 17 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | | | | 172 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 172 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 172 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123500 | Crouzon syndrome | | | | 175 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | | | | 145 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | | | | 145 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:429 | Hypochondroplasia | | | | 145 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 145 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | | | | 332 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 11 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040284 - Very rare | | | 30 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:95713 | Athyreosis | | | | 9 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | | | | 48 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | | | | 48 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 48 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 48 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FTL CL E G H | 2512 | 3999 | OMIM:615604 | L-ferritin deficiency, dominant and recessive | | | | 33 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618822 | MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617904 | Epileptic encephalopathy, early infantile, 59 | . | | | 5 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617903 | Neurodevelopmental disorder with poor language and loss of hand skills | . | | | 5 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GABRB3 CL E G H | 2562 | 4083 | OMIM:617113 | Epileptic encephalopathy, early infantile, 43 | | | | 57 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:1945 | Rolandic epilepsy | | | | 139 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 86 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GFAP CL E G H | 2670 | 4235 | ORPHA:363722 | Alexander disease type II | | | | 188 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GJB1 CL E G H | 2705 | 4283 | ORPHA:101075 | X-linked Charcot-Marie-Tooth disease type 1 | | | | 107 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | | | | 173 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | | | | 173 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 173 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 173 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GLRA1 CL E G H | 2741 | 4326 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040282 - Frequent | | | 63 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GLRB CL E G H | 2743 | 4329 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040282 - Frequent | | | 46 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GLUD2 CL E G H | 2747 | 4336 | OMIM:168600 | Parkinson disease, late-onset | . | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 36 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | | | | 173 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | | | | 240 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GPHN CL E G H | 10243 | 15465 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040282 - Frequent | | | 18 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | | | | 5 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GRIA1 CL E G H | 2890 | 4571 | OMIM:619931 | | | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GRIA1 CL E G H | 2890 | 4571 | OMIM:619927 | | | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | HP:0040283 - Occasional | | | 30 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | HP:0040283 - Occasional | | | 108 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | HP:0040283 - Occasional | | | 434 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:1945 | Rolandic epilepsy | | | | 434 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 5 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HCRT CL E G H | 3060 | 4847 | OMIM:161400 | Narcolepsy 1 | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HCRT CL E G H | 3060 | 4847 | ORPHA:2073 | Narcolepsy type 1 | HP:0040281 - Very frequent | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HCRT CL E G H | 3060 | 4847 | ORPHA:83465 | Narcolepsy type 2 | HP:0040281 - Very frequent | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HDC CL E G H | 3067 | 4855 | OMIM:137580 | Gilles de la tourette syndrome | . | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HEPHL1 CL E G H | 341208 | 30477 | OMIM:261990 | PILI TORTI AND DEVELOPMENTAL DELAY | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 21 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309162 | Sandhoff disease, juvenile form | | | | 80 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | . | | | 86 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HIBCH CL E G H | 26275 | 4908 | ORPHA:88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | HP:0040282 - Frequent | | | 32 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | ORPHA:2073 | Narcolepsy type 1 | HP:0040281 - Very frequent | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | ORPHA:83465 | Narcolepsy type 2 | HP:0040281 - Very frequent | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:2073 | Narcolepsy type 1 | HP:0040281 - Very frequent | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:83465 | Narcolepsy type 2 | HP:0040281 - Very frequent | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | | | | 81 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HMGCL CL E G H | 3155 | 5005 | OMIM:246450 | 3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency | | | | 35 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | | | | 39 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | | | | 12 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040282 - Frequent | | | 86 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | | | | 115 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607016 | Scheie syndrome | | | | 115 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 46 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040282 - Frequent | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 4 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 127 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 145 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | KCNT1 CL E G H | 57582 | 18865 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 321 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | HP:0040283 - Occasional | | | 46 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 92 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | LIAS CL E G H | 11019 | 16429 | OMIM:614462 | Hyperglycinemia, lactic acidosis, and seizures | . | | | 31 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | | | | 191 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | LRRC32 CL E G H | 2615 | 4161 | OMIM:619074 | CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | | | | 221 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | | | | 12 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 63 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:168600 | Parkinson disease, late-onset | . | | | 140 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | HP:0040282 - Frequent | | | 252 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MCM3AP CL E G H | 8888 | 6946 | OMIM:618124 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3077 | X-linked intellectual disability-psychosis-macroorchidism syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MED23 CL E G H | 9439 | 2372 | OMIM:614249 | Mental retardation, autosomal recessive 18 | | | | 25 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | | | | 462 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | | 203 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MFSD8 CL E G H | 256471 | 28486 | OMIM:610951 | Ceroid lipofuscinosis, neuronal, 7 | . | | | 120 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MOG CL E G H | 4340 | 7197 | OMIM:614250 | Narcolepsy 7 | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MOG CL E G H | 4340 | 7197 | ORPHA:2073 | Narcolepsy type 1 | HP:0040281 - Very frequent | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MRPS34 CL E G H | 65993 | 16618 | OMIM:617664 | Combined oxidative phosphorylation deficiency 32 | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MTRR CL E G H | 4552 | 7473 | ORPHA:2169 | Methylcobalamin deficiency type cblE | | | | 88 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 131 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | | | | 23 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NACC1 CL E G H | 112939 | 20967 | OMIM:617393 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NACC1 CL E G H | 112939 | 20967 | ORPHA:500545 | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract | HP:0040282 - Frequent | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | | | | 14 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NAGLU CL E G H | 4669 | 7632 | OMIM:252920 | Mucopolysaccharidosis type IIIB | . | | | 72 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | | | | 36 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040283 - Occasional | | | 39 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NDST1 CL E G H | 3340 | 7680 | OMIM:616116 | Mental retardation, autosomal recessive 46 | . | | | 27 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 24 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | | | | 118 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040282 - Frequent | | | 1952 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NHLRC1 CL E G H | 378884 | 21576 | ORPHA:501 | Lafora disease | HP:0040283 - Occasional | | | 77 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:95713 | Athyreosis | | | | 51 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040284 - Very rare | | | 51 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | HP:0040283 - Occasional | | | 51 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95713 | Athyreosis | | | | 90 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95712 | Thyroid ectopia | | | | 90 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | | | | 45 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | | | | 45 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 45 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 45 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NR1H4 CL E G H | 9971 | 7967 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | | | | 14 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 27 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:168600 | Parkinson disease, late-onset | . | | | 27 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:300831 | Ck syndrome | . | | | 34 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NSDHL CL E G H | 50814 | 13398 | ORPHA:251383 | CK syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 121 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 41 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | P2RY11 CL E G H | 5032 | 8540 | ORPHA:2073 | Narcolepsy type 1 | HP:0040281 - Very frequent | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | | | | 23 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95713 | Athyreosis | | | | 63 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95712 | Thyroid ectopia | | | | 63 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PDE2A CL E G H | 5138 | 8777 | OMIM:619150 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PER2 CL E G H | 8864 | 8846 | OMIM:604348 | Advanced sleep phase syndrome, familial, 1 | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PER3 CL E G H | 8863 | 8847 | OMIM:616882 | Advanced sleep phase syndrome, familial, 3 | | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PHIP CL E G H | 55023 | 15673 | ORPHA:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | | | | 11 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 54 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:99803 | Haddad syndrome | | | | 86 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PIDD1 CL E G H | 55367 | 16491 | OMIM:619827 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75 | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | | | | 12 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | | | | 55 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | | | | 82 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | | | | 82 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 244 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | | | | 6 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | POLR2A CL E G H | 5430 | 9187 | OMIM:618603 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | POU3F3 CL E G H | 5455 | 9216 | OMIM:618604 | SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PPT1 CL E G H | 5538 | 9325 | OMIM:256730 | Ceroid lipofuscinosis, neuronal, 1 | . | | | 172 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | | | | 138 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | | | | 6 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:280397 | Familial Alzheimer-like prion disease | HP:0040281 - Very frequent | | | 69 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:600072 | Fatal familial insomnia | | | | 69 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:356 | Gerstmann-Straussler-Scheinker syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:282166 | Inherited Creutzfeldt-Jakob disease | | | | 69 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 34 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PRPH CL E G H | 5630 | 9461 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 25 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:99014 | X-linked Charcot-Marie-Tooth disease type 5 | | | | 49 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | | | | 49 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PSEN2 CL E G H | 5664 | 9509 | OMIM:606889 | Alzheimer disease 4 | | | | 59 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | | | | 665 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | | | | 665 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 665 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 665 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PTS CL E G H | 5805 | 9689 | OMIM:261640 | Hyperphenylalaninemia, BH4-deficient, A | | | | 19 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | PYGL CL E G H | 5836 | 9725 | ORPHA:369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | HP:0040283 - Occasional | | | 71 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | | | | 150 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 73 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | RET CL E G H | 5979 | 9967 | ORPHA:99803 | Haddad syndrome | | | | 572 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | RIC1 CL E G H | 57589 | 17686 | OMIM:618761 | CATIFA SYNDROME; CATIFA | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | | | | 90 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SARDH CL E G H | 1757 | 10536 | ORPHA:3129 | Sarcosinemia | HP:0040283 - Occasional | | | 4 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619228 | DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES; DEFDA | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | | | | 34 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:576283 | SATB2-associated syndrome due to a pathogenic variant | HP:0040282 - Frequent | | | 34 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 126 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 427 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 66 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SEPSECS CL E G H | 51091 | 30605 | OMIM:613811 | Pontocerebellar hypoplasia, type 2D | . | | | 66 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SEPTIN9 CL E G H | 10801 | 7323 | ORPHA:2901 | Neuralgic amyotrophy | HP:0040283 - Occasional | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SETD1A CL E G H | 9739 | 29010 | OMIM:619056 | NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID | | | | 6 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SETD5 CL E G H | 55209 | 25566 | ORPHA:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | HP:0040283 - Occasional | | | 43 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | . | | | 97 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SH3BP2 CL E G H | 6452 | 10825 | ORPHA:184 | Cherubism | | | | 177 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040282 - Frequent | | | 53 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | | | | 67 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | | | | 67 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 67 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 67 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC18A2 CL E G H | 6571 | 10935 | ORPHA:352649 | Brain dopamine-serotonin vesicular transport disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC18A2 CL E G H | 6571 | 10935 | OMIM:618049 | Parkinsonism-Dystonia, infantile, 2 | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | | | | 207 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | HP:0040282 - Frequent | | | 82 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 166 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:95713 | Athyreosis | | | | 274 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:71277 | Classic glucose transporter type 1 deficiency syndrome | HP:0040283 - Occasional | | | 255 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:606777 | Glut1 deficiency syndrome 1 | . | | | 255 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040282 - Frequent | | | 71 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC6A5 CL E G H | 9152 | 11051 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040282 - Frequent | | | 81 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | | | | 93 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SLITRK1 CL E G H | 114798 | 20297 | OMIM:137580 | Gilles de la tourette syndrome | . | | | 58 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | . | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 135 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SNCA CL E G H | 6622 | 11138 | OMIM:168601 | Parkinson disease 1, autosomal dominant | . | | | 65 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | | | | 65 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SNCAIP CL E G H | 9627 | 11139 | OMIM:168600 | Parkinson disease, late-onset | . | | | 35 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 37 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 37 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 53 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 33 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 24 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | HP:0040283 - Occasional | | | 66 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SPR CL E G H | 6697 | 11257 | ORPHA:70594 | Dopa-responsive dystonia due to sepiapterin reductase deficiency | HP:0040282 - Frequent | | | 28 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SPR CL E G H | 6697 | 11257 | OMIM:612716 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | . | | | 28 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:1945 | Rolandic epilepsy | | | | 50 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:521258 | Xq25 microduplication syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | | | | 99 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | | | | 99 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 99 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 99 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:618093 | SPINOCEREBELLAR ATAXIA 48; SCA48 | | | | 14 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040283 - Occasional | | | 60 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:544254 | SYNGAP1-related developmental and epileptic encephalopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | | | | 9 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SYT1 CL E G H | 6857 | 11509 | OMIM:618218 | Baker-Gordon syndrome | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TANC2 CL E G H | 26115 | 30212 | OMIM:618906 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352596 | Progressive myoclonic epilepsy with dystonia | | | | 271 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 20 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TBP CL E G H | 6908 | 11588 | OMIM:168600 | Parkinson disease, late-onset | . | | | 7 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | . | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040281 - Very frequent | | | 241 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TDP2 CL E G H | 51567 | 17768 | OMIM:616949 | Spinocerebellar ataxia, autosomal recessive 23 | | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | | | | 12 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TFAP2B CL E G H | 7021 | 11743 | OMIM:169100 | Char syndrome | | | | 104 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040283 - Occasional | | | 104 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 6 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TIMELESS CL E G H | 8914 | 11813 | OMIM:620015 | | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TNFSF4 CL E G H | 7292 | 11934 | ORPHA:2073 | Narcolepsy type 1 | HP:0040281 - Very frequent | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 71 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TNRC6B CL E G H | 23112 | 29190 | OMIM:619243 | GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:168600 | Parkinson disease, late-onset | . | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 1090 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 2738 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 84 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 57 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 102 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:95713 | Athyreosis | | | | 97 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:99819 | Familial gestational hyperthyroidism | HP:0040282 - Frequent | | | 97 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:424 | Familial hyperthyroidism due to mutations in TSH receptor | HP:0040282 - Frequent | | | 97 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TSPYL1 CL E G H | 7259 | 12382 | ORPHA:168593 | Sudden infant death-dysgenesis of the testes syndrome | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TTI2 CL E G H | 80185 | 26262 | OMIM:615541 | Mental retardation, autosomal recessive 39 | | | | 11 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TTI2 CL E G H | 80185 | 26262 | ORPHA:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 106 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | | | | 64 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | | | | 113 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | | | | 278 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | | | | 21 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 5 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040284 - Very rare | | | 130 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | | | | 8 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 37 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | | | | 32 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040282 - Frequent | | | 20 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040282 - Frequent | | | 20 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | . | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | WDR45 CL E G H | 11152 | 28912 | ORPHA:329284 | Beta-propeller protein-associated neurodegeneration | HP:0040282 - Frequent | | | 51 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | | | | 14 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 389 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | YY1 CL E G H | 7528 | 12856 | OMIM:617557 | Gabriele-De vries syndrome | | | | 7 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | | | | 7 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ZBTB7A CL E G H | 51341 | 18078 | OMIM:619769 | MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040282 - Frequent | | | 362 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040282 - Frequent | | | 362 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | | | | 34 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | | | | 34 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 34 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 34 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ZNF365 CL E G H | 22891 | 18194 | ORPHA:2073 | Narcolepsy type 1 | HP:0040281 - Very frequent | | | 3 | | |
HP:0002360 | HP:0002360 | Sleep disturbance | 0 | ZNF365 CL E G H | 22891 | 18194 | ORPHA:83465 | Narcolepsy type 2 | HP:0040281 - Very frequent | | | 3 | | |
HP:0002360 | HP:0033063 | Shortened sleep cycle | 1 | CL E G H | | | | | | | | | | |
HP:0002360 | HP:0100785 | Insomnia | 1 | ABCB11 CL E G H | 8647 | 42 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040282 - Frequent | | | 146 | | |
HP:0002360 | HP:0100785 | Insomnia | 1 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040282 - Frequent | | | 111 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0002360 | HP:0001262 | Excessive daytime somnolence | 1 | ACAT1 CL E G H | 38 | 93 | ORPHA:134 | Beta-ketothiolase deficiency | HP:0040282 - Frequent | | | 91 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0002360 | HP:0025267 | Snoring | 1 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | | | | 36 | | |
HP:0002360 | HP:0025267 | Snoring | 1 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | . | | | 36 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | | | | 36 | | |
HP:0002360 | HP:0100786 | Hypersomnia | 1 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040283 - Occasional | | | 95 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 95 | | |
HP:0002360 | HP:0001262 | Excessive daytime somnolence | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 54 | | |
HP:0002360 | HP:0006979 | Sleep-wake cycle disturbance | 1 | APOE CL E G H | 348 | 613 | OMIM:606889 | Alzheimer disease 4 | . | | | 39 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | | | | 3 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | | | | 120 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | ASCL1 CL E G H | 429 | 738 | ORPHA:99803 | Haddad syndrome | | | | 15 | | |
HP:0002360 | HP:0001262 | Excessive daytime somnolence | 1 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | | | | 16 | | |
HP:0002360 | HP:0006979 | Sleep-wake cycle disturbance | 1 | ATP10A CL E G H | 57194 | 13542 | ORPHA:411515 | Angelman syndrome due to imprinting defect in 15q11-q13 | HP:0040283 - Occasional | | | 4 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | ATP1A2 CL E G H | 477 | 800 | OMIM:619605 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98 | | | | 239 | | |
HP:0002360 | HP:0100785 | Insomnia | 1 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0002360 | HP:0100785 | Insomnia | 1 | ATP8B1 CL E G H | 5205 | 3706 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040282 - Frequent | | | 144 | | |
HP:0002360 | HP:0012452 | Restless legs | 1 | ATXN7 CL E G H | 6314 | 10560 | ORPHA:94147 | Spinocerebellar ataxia type 7 | HP:0040282 - Frequent | | | 8 | | |
HP:0002360 | HP:0001262 | Excessive daytime somnolence | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 184 | | |
HP:0002360 | HP:0100785 | Insomnia | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002360 | HP:0100785 | Insomnia | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0002360 | HP:0001262 | Excessive daytime somnolence | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 276 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040283 - Occasional | | | 276 | | |
HP:0002360 | HP:0100785 | Insomnia | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0002360 | HP:0025234 | Parasomnia | 1 | CABP4 CL E G H | 57010 | 1386 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 94 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0002360 | HP:0006979 | Sleep-wake cycle disturbance | 1 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | | | | 1 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | | | | | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0002360 | HP:0006979 | Sleep-wake cycle disturbance | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | HP:0040282 - Frequent | | | 405 | | |
HP:0002360 | HP:0006979 | Sleep-wake cycle disturbance | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002360 | HP:0006979 | Sleep-wake cycle disturbance | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002360 | HP:0006979 | Sleep-wake cycle disturbance | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002360 | HP:0006979 | Sleep-wake cycle disturbance | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0002360 | HP:0006979 | Sleep-wake cycle disturbance | 1 | CHD8 CL E G H | 57680 | 20153 | OMIM:615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | | | | 72 | | |
HP:0002360 | HP:0025234 | Parasomnia | 1 | CHRNA2 CL E G H | 1135 | 1956 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 188 | | |
HP:0002360 | HP:0025234 | Parasomnia | 1 | CHRNA4 CL E G H | 1137 | 1958 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 225 | | |
HP:0002360 | HP:0025234 | Parasomnia | 1 | CHRNB2 CL E G H | 1141 | 1962 | ORPHA:98784 | Autosomal dominant nocturnal frontal lobe epilepsy | | | | 88 | | |
HP:0002360 | HP:0001262 | Excessive daytime somnolence | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0002360 | HP:0100785 | Insomnia | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0002360 | HP:0100785 | Insomnia | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002360 | HP:0001262 | Excessive daytime somnolence | 1 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040282 - Frequent | | | | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0002360 | HP:0010535 | Sleep apnea | 1 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 90 | | |
HP:0002360 | HP:0002494 | Abnormal rapid eye movement sleep | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | |