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:0002104 | HP:0002104 | Apnea | 0 | ABCA3 CL E G H | 21 | 33 | OMIM:610921 | Surfactant metabolism dysfunction, pulmonary, 3 | . | | | 147 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ACADSB CL E G H | 36 | 91 | OMIM:610006 | 2-Methylbutyryl-Coa dehydrogenase deficiency | | | | 111 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ACY1 CL E G H | 95 | 177 | ORPHA:137754 | Neurological conditions associated with aminoacylase 1 deficiency | HP:0040283 - Occasional | | | 13 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ADAM22 CL E G H | 53616 | 201 | OMIM:617933 | Epileptic encephalopathy, early infantile, 61 | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 88 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | |
HP:0002104 | HP:0002104 | Apnea | 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:0002104 | HP:0002104 | Apnea | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | | | | 36 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | | | | 36 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | | | | 175 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 175 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ALPL CL E G H | 249 | 438 | OMIM:241500 | Hypophosphatasia, infantile | . | | | 126 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | AMER1 CL E G H | 139285 | 26837 | OMIM:300373 | Osteopathia striata with cranial sclerosis | . | | | 34 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | | | | 3 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ARMC9 CL E G H | 80210 | 20730 | OMIM:617622 | JOUBERT SYNDROME 30; JBTS30 | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | | | | 120 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ASCL1 CL E G H | 429 | 738 | ORPHA:99803 | Haddad syndrome | | | | 15 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | | | | 16 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 239 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:619605 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98 | | | | 239 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 150 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ATP5F1A CL E G H | 498 | 823 | OMIM:615228 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 4 | . | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | BCHE CL E G H | 590 | 983 | OMIM:617936 | BUTYRYLCHOLINESTERASE DEFICIENCY; BCHED | | | | 67 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | | | | 276 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | . | | | 20 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:614498 | Rigidity and multifocal seizure syndrome, lethal neonatal | . | | | 20 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | HP:0040283 - Occasional | | | 223 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 449 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612285 | Joubert syndrome 9 | | | | 247 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 247 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 247 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | | | | 405 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | | | | 200 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | | | | 200 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 200 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 200 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 7 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | | | | 342 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 342 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 90 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | | | | 65 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | | | | 139 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | | | | 3 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040283 - Occasional | | | 102 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | | | | 749 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 90 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | | | | 54 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | | | | 54 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 104 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | | | | 291 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | | | | 291 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:613869 | Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related | . | | | 46 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | . | | | 57 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | | | | 88 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | . | | | 159 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | D2HGDH CL E G H | 728294 | 28358 | OMIM:600721 | D-2-Hydroxyglutaric aciduria 1 | . | | | 102 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 86 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | | | | 22 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | | | | 22 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 22 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 22 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | | | | 3 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | | | | 3 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 3 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 3 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | | | | 41 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | | | | 41 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:608093 | Congenital disorder of glycosylation, type Ij | HP:0040283 - Occasional | | | 38 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | | | | 3 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | DST CL E G H | 667 | 1090 | OMIM:614653 | Neuropathy, hereditary sensory and autonomic, type VI | . | | | 108 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 33 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ECHS1 CL E G H | 1892 | 3151 | OMIM:616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | . | | | 33 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | | | | 6 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | | | | 250 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | | | | 36 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FBP1 CL E G H | 2203 | 3606 | OMIM:229700 | Fructose-1,6-Bisphosphatase deficiency | . | | | 64 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | | | | 64 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FGF13 CL E G H | 2258 | 3670 | OMIM:301058 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90 | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | | | | 17 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | | | | 17 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 17 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 17 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | | | | 172 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 172 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123500 | Crouzon syndrome | | | | 175 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 175 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | | | | 145 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | | | | 145 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:429 | Hypochondroplasia | | | | 145 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 145 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | | | | 332 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | | | | 48 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | | | | 48 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 48 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 48 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 61 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | HP:0040283 - Occasional | | | 3 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618822 | MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | | | | 5 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GABBR2 CL E G H | 9568 | 4507 | OMIM:617903 | Neurodevelopmental disorder with poor language and loss of hand skills | . | | | 5 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:1945 | Rolandic epilepsy | | | | 139 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | | | | 2 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | | | | 2 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 2 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 2 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | . | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | | | | 173 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | | | | 173 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 173 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 173 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GLRA1 CL E G H | 2741 | 4326 | OMIM:149400 | Hyperekplexia 1 | . | | | 63 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GLUL CL E G H | 2752 | 4341 | OMIM:610015 | GLUTAMINE DEFICIENCY, CONGENITAL | | | | 98 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | | | | 2 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | . | | | 2 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | | | | 173 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | | | | 240 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:149400 | Hyperekplexia 1 | . | | | 18 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | | | | 5 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:619814 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101 | | | | 108 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:1945 | Rolandic epilepsy | | | | 434 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | HACD1 CL E G H | 9200 | 9639 | OMIM:619967 | | | | | 2 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040283 - Occasional | | | 35 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | HSPD1 CL E G H | 3329 | 5261 | OMIM:612233 | Leukodystrophy, hypomyelinating, 4 | . | | | 46 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | . | | | 39 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | | | | 86 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | | | | 86 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | | | | 115 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607016 | Scheie syndrome | | | | 115 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 111 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 111 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 111 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | HP:0040283 - Occasional | | | 141 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040282 - Frequent | | | 528 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:1949 | Benign familial neonatal epilepsy | HP:0040282 - Frequent | | | 528 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:439218 | KCNQ2-related epileptic encephalopathy | HP:0040282 - Frequent | | | 528 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040282 - Frequent | | | 302 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | KCNQ3 CL E G H | 3786 | 6297 | ORPHA:1949 | Benign familial neonatal epilepsy | HP:0040282 - Frequent | | | 302 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 24 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616490 | Joubert syndrome 23 | . | | | 24 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 4 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:617235 | Myoclonus, intractable, neonatal | . | | | 93 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 167 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 92 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | | | | 16 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | LBX1 CL E G H | 10660 | 16960 | OMIM:619483 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3; CCHS3 | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | LIAS CL E G H | 11019 | 16429 | OMIM:614462 | Hyperglycinemia, lactic acidosis, and seizures | . | | | 31 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | HP:0040282 - Frequent | | | 144 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | LIPT1 CL E G H | 51601 | 29569 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 21 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | | | | 191 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | LRRC32 CL E G H | 2615 | 4161 | OMIM:619074 | CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | | | | 12 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 63 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MCCC1 CL E G H | 56922 | 6936 | OMIM:210200 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | . | | | 81 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MCM3AP CL E G H | 8888 | 6946 | OMIM:618124 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | | | | 3 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | | | | 950 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300673 | Encephalopathy, neonatal severe, due to mecp2 mutations | . | | | 950 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:312750 | Rett syndrome | . | | | 950 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MINPP1 CL E G H | 9562 | 7102 | OMIM:619527 | PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16 | | | | 3 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 127 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040283 - Occasional | | | 37 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MRPS34 CL E G H | 65993 | 16618 | OMIM:617664 | Combined oxidative phosphorylation deficiency 32 | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MTFMT CL E G H | 123263 | 29666 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 29 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | HP:0040283 - Occasional | | | 183 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MYL1 CL E G H | 4632 | 7582 | OMIM:618414 | Myopathy, congenital, with fast-twitch (type ii) fiber atrophy | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MYO9A CL E G H | 4649 | 7608 | OMIM:618198 | Myasthenic syndrome, congenital, 24, presynaptic | . | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NACC1 CL E G H | 112939 | 20967 | OMIM:617393 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NACC1 CL E G H | 112939 | 20967 | ORPHA:500545 | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | | | | 14 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 48 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFA10 CL E G H | 4705 | 7684 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 91 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFA11 CL E G H | 126328 | 20371 | OMIM:618236 | Mitochondrial complex I deficiency, nuclear type 14 | . | | | 32 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFA12 CL E G H | 55967 | 23987 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 7 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFA13 CL E G H | 51079 | 17194 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 3 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFA2 CL E G H | 4695 | 7685 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 19 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFA2 CL E G H | 4695 | 7685 | OMIM:618235 | Mitochondrial complex I deficiency, nuclear type 13 | . | | | 19 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFA4 CL E G H | 4697 | 7687 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 4 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFA6 CL E G H | 4700 | 7690 | OMIM:618253 | Mitochondrial complex I deficiency, nuclear type 33 | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFA9 CL E G H | 4704 | 7693 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 26 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFAF2 CL E G H | 91942 | 28086 | OMIM:618233 | Mitochondrial complex I deficiency, nuclear type 10 | . | | | 26 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 31 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 34 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 39 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 81 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFS1 CL E G H | 4719 | 7707 | OMIM:618226 | Mitochondrial complex I deficiency, nuclear type 5 | . | | | 81 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 65 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 22 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 38 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 42 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | . | | | 42 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 74 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFV1 CL E G H | 4723 | 7716 | OMIM:618225 | Mitochondrial complex I deficiency, nuclear type 4 | . | | | 74 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | . | | | 745 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 24 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | | | | 45 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | | | | 45 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 45 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 45 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040281 - Very frequent | | | 85 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 121 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 201 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:616896 | MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14 | | | | 214 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | . | | | 96 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | . | | | 92 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PCK1 CL E G H | 5105 | 8724 | OMIM:261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | . | | | 53 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 88 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | | | | 88 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PET100 CL E G H | 100131801 | 40038 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 6 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PEX13 CL E G H | 5194 | 8855 | OMIM:614883 | Peroxisome biogenesis disorder 11A (Zellweger) | . | | | 66 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PHOX2B CL E G H | 8929 | 9143 | OMIM:209880 | Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | . | | | 86 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:99803 | Haddad syndrome | | | | 86 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 11 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PIBF1 CL E G H | 10464 | 23352 | OMIM:617767 | Joubert syndrome 33 | . | | | 4 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | | | | 12 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | | | | 133 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | | | | 82 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | . | | | 82 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PLPBP CL E G H | 11212 | 9457 | OMIM:617290 | Epilepsy, early-onset, vitamin b6-dependent | . | HP:0003623 - Neonatal onset | | 6 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | | | | 35 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | | | | 6 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:600072 | Fatal familial insomnia | . | | | 69 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PRPH CL E G H | 5630 | 9461 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 25 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | | | | 49 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040282 - Frequent | | | 94 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:611722 | KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY | | | | 81 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:610992 | Phosphoserine aminotransferase deficiency | | | | 27 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | | | | 665 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | | | | 665 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 665 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 665 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PTF1A CL E G H | 256297 | 23734 | OMIM:609069 | Pancreatic and cerebellar agenesis | . | | | 22 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:314655 | Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion | HP:0040283 - Occasional | | | 53 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | | | | 150 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | . | | | 93 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | RET CL E G H | 5979 | 9967 | ORPHA:99803 | Haddad syndrome | | | | 572 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | . | | | 5 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | | | | 167 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 167 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040281 - Very frequent | | | 167 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | | | | 90 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | | | | 34 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040282 - Frequent | | | 427 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SCN2A CL E G H | 6326 | 10588 | OMIM:607745 | Seizures, benign familial infantile, 3 | . | | | 427 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:614198 | Myasthenic syndrome, congenital, 16 | HP:0040283 - Occasional | | | 263 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99734 | Myotonia fluctuans | HP:0040284 - Very rare | | | 263 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:608390 | Myotonia, potassium-aggravated | | | | 263 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SCN5A CL E G H | 6331 | 10593 | OMIM:272120 | Sudden infant death syndrome | | | | 1134 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:306 | Benign familial infantile epilepsy | HP:0040282 - Frequent | | | 357 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SCO1 CL E G H | 6341 | 10603 | OMIM:619048 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4 | | | | 46 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 40 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 304 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 66 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SFTPB CL E G H | 6439 | 10801 | OMIM:265120 | Surfactant metabolism dysfunction, pulmonary, 1 | | | | 51 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SH3BP2 CL E G H | 6452 | 10825 | ORPHA:184 | Cherubism | | | | 177 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | | | | 67 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | | | | 67 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 67 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 67 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SLC18A3 CL E G H | 6572 | 10936 | OMIM:617239 | Myasthenic syndrome, congenital, 21, presynaptic | . | | | 2 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 110 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 63 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:71277 | Classic glucose transporter type 1 deficiency syndrome | | | | 255 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | | | | 11 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:617143 | Myasthenic syndrome, congenital, 20, presynaptic | . | | | 9 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SLC6A5 CL E G H | 9152 | 11051 | OMIM:614618 | Hyperekplexia 3 | . | HP:0003623 - Neonatal onset | | 81 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | . | | | 4 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | | | | 135 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 135 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 37 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040283 - Occasional | | | 2 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | | | | 53 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 50 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:1945 | Rolandic epilepsy | | | | 50 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | | | | 99 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | | | | 99 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 99 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 99 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040283 - Occasional | | | 60 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 124 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040282 - Frequent | | | 73 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 73 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SYT1 CL E G H | 6857 | 11509 | OMIM:618218 | Baker-Gordon syndrome | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TACO1 CL E G H | 51204 | 24316 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 23 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040283 - Occasional | | | 82 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 76 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 31 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TECPR2 CL E G H | 9895 | 19957 | ORPHA:320385 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | | | | 39 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TECPR2 CL E G H | 9895 | 19957 | OMIM:615031 | Spastic paraplegia 49, autosomal recessive | | | | 39 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | . | | | 4 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 39 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 45 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 45 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 33 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 82 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040281 - Very frequent | | | 82 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 166 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040283 - Occasional | | | 44 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | . | | | 6 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 61 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 3 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 84 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 57 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 102 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:166063 | Pontocerebellar hypoplasia type 4 | | | | 102 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TSPYL1 CL E G H | 7259 | 12382 | OMIM:608800 | Sudden infant death with dysgenesis of the testes syndrome | . | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TSPYL1 CL E G H | 7259 | 12382 | ORPHA:168593 | Sudden infant death-dysgenesis of the testes syndrome | | | | 1 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | | | | 18 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 23 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | | | | 2 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | | | | 2 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | | | | 389 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ZBTB7A CL E G H | 51341 | 18078 | OMIM:619769 | MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | . | | | 19 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | | | | 34 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | | | | 34 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 34 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 34 | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0002104 | HP:0002104 | Apnea | 0 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 49 | | |
HP:0002104 | HP:0034236 | Apnea of prematurity | 1 | CL E G H | | | | | | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0002104 | HP:0005949 | Apneic episodes in infancy | 1 | ACADSB CL E G H | 36 | 91 | OMIM:610006 | 2-Methylbutyryl-Coa dehydrogenase deficiency | . | | | 111 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | | | | 6 | | |
HP:0002104 | 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:0002104 | HP:0002882 | Sudden episodic apnea | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 127 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0002104 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0002104 | 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:0002104 | HP:0010535 | Sleep apnea | 1 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | | | | 36 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | . | | | 175 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 95 | | |
HP:0002104 | 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:0002104 | HP:0010535 | Sleep apnea | 1 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | | | | 120 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | ASCL1 CL E G H | 429 | 738 | ORPHA:99803 | Haddad syndrome | | | | 15 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | | | | 16 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | ATP1A2 CL E G H | 477 | 800 | OMIM:619605 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98 | | | | 239 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0002104 | 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:0002104 | HP:0010535 | Sleep apnea | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040283 - Occasional | | | 276 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0002104 | HP:0005949 | Apneic episodes in infancy | 1 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0002104 | 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:0002104 | HP:0002882 | Sudden episodic apnea | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 405 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | . | | | 342 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0002104 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 1 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | . | | | 65 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | . | | | 65 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0002104 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 1 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 65 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 65 | | |
HP:0002104 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 1 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 6 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0002104 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 90 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | | | | 54 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | | | | 54 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | | | | 291 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | | | | 291 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040283 - Occasional | | | 88 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | DCTN1 CL E G H | 1639 | 2711 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | . | | | 86 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | | | | | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | | | | 41 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | | | | 41 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | | | | 6 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | | | | 250 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | HP:0040283 - Occasional | | | 36 | | |
HP:0002104 | HP:0005949 | Apneic episodes in infancy | 1 | FBP1 CL E G H | 2203 | 3606 | ORPHA:348 | Fructose-1,6-bisphosphatase deficiency | HP:0040283 - Occasional | | | 64 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0002104 | HP:0005949 | Apneic episodes in infancy | 1 | FGF13 CL E G H | 2258 | 3670 | OMIM:301058 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90 | | | | 1 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123500 | Crouzon syndrome | . | | | 175 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | | | | 145 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | . | | | 145 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | . | | | 145 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:429 | Hypochondroplasia | HP:0040283 - Occasional | | | 145 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | | | | 332 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | FXR1 CL E G H | 8087 | 4023 | OMIM:618822 | MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF | | | | | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:1945 | Rolandic epilepsy | HP:0040282 - Frequent | | | 139 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | | | | 2 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | . | | | 173 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | | | | 240 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 5 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | . | | | 5 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:1945 | Rolandic epilepsy | HP:0040282 - Frequent | | | 434 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040283 - Occasional | | | 53 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0002104 | HP:0005949 | Apneic episodes in infancy | 1 | HACD1 CL E G H | 9200 | 9639 | OMIM:619967 | | | | | 2 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040282 - Frequent | | | 86 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040282 - Frequent | | | 86 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | | | | 115 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607016 | Scheie syndrome | | | | 115 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 92 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | | | | 191 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | LRRC32 CL E G H | 2615 | 4161 | OMIM:619074 | CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD | | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | LTBP3 CL E G H | 4054 | 6716 | OMIM:617809 | Geleophysic dysplasia 3 | . | | | 12 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | 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:0002104 | HP:0010535 | Sleep apnea | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 63 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 63 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 63 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | . | | | 63 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | MCM3AP CL E G H | 8888 | 6946 | OMIM:618124 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | | | | 3 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 950 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | MRPS34 CL E G H | 65993 | 16618 | OMIM:617664 | Combined oxidative phosphorylation deficiency 32 | | | | 1 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | | | |
HP:0002104 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 1 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | NACC1 CL E G H | 112939 | 20967 | OMIM:617393 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | | | | 1 | | |
HP:0002104 | HP:0005949 | Apneic episodes in infancy | 1 | NACC1 CL E G H | 112939 | 20967 | ORPHA:500545 | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract | HP:0040283 - Occasional | | | 1 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | | | | 14 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 48 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0005949 | Apneic episodes in infancy | 1 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | | | | 42 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | NEFH CL E G H | 4744 | 7737 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | . | | | 24 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 121 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | 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:0002104 | HP:0002871 | Central apnea | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 121 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 121 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | . | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | | | | | | |
HP:0002104 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 1 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | . | | | 88 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:99803 | Haddad syndrome | | | | 86 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | | | | 12 | | |
HP:0002104 | HP:0005949 | Apneic episodes in infancy | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | HP:0040284 - Very rare | | | 133 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | | | | 82 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | | | | 35 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | PRPH CL E G H | 5630 | 9461 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | . | | | 25 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | | | | 49 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:611722 | KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY | | | | 81 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | RET CL E G H | 5979 | 9967 | ORPHA:99803 | Haddad syndrome | | | | 572 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | . | | | 167 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040283 - Occasional | | | 90 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0002104 | HP:0005949 | Apneic episodes in infancy | 1 | SCN4A CL E G H | 6329 | 10591 | OMIM:608390 | Myotonia, potassium-aggravated | . | | | 263 | | |
HP:0002104 | HP:0005949 | Apneic episodes in infancy | 1 | SCN5A CL E G H | 6331 | 10593 | OMIM:272120 | Sudden infant death syndrome | . | | | 1134 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SH3BP2 CL E G H | 6452 | 10825 | ORPHA:184 | Cherubism | | | | 177 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | | | | 40 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0002104 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 28 | | |
HP:0002104 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 1 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 28 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | HP:0040283 - Occasional | | | 40 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:71277 | Classic glucose transporter type 1 deficiency syndrome | HP:0040283 - Occasional | | | 255 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | HP:0040283 - Occasional | | | 11 | | |
HP:0002104 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 1 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 9 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 9 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 135 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |
HP:0002104 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 1 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | 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:0002104 | HP:0010535 | Sleep apnea | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 37 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 37 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 37 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SOD1 CL E G H | 6647 | 11179 | OMIM:105400 | Amyotrophic lateral sclerosis 1 | . | | | 53 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SPOP CL E G H | 8405 | 11254 | OMIM:618829 | NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2 | | | | 16 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:1945 | Rolandic epilepsy | HP:0040282 - Frequent | | | 50 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SYT1 CL E G H | 6857 | 11509 | OMIM:618218 | Baker-Gordon syndrome | . | | | 1 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0002104 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 1 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 4 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 4 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040282 - Frequent | | | 241 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | TECPR2 CL E G H | 9895 | 19957 | ORPHA:320385 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | HP:0040283 - Occasional | | | 39 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | TECPR2 CL E G H | 9895 | 19957 | OMIM:615031 | Spastic paraplegia 49, autosomal recessive | . | | | 39 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:166063 | Pontocerebellar hypoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | TSPYL1 CL E G H | 7259 | 12382 | ORPHA:168593 | Sudden infant death-dysgenesis of the testes syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 23 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | | | | 2 | | |
HP:0002104 | HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0002104 | HP:0002882 | Sudden episodic apnea | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 389 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | ZBTB7A CL E G H | 51341 | 18078 | OMIM:619769 | MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH | | | | | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0002104 | HP:0002871 | Central apnea | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0002104 | HP:0010535 | Sleep apnea | 1 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 127 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | AHDC1 CL E G H | 27245 | 25230 | OMIM:615829 | Xia-Gibbs syndrome | . | | | 36 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | . | | | 3 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | ASCL1 CL E G H | 429 | 738 | ORPHA:99803 | Haddad syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | HP:0040284 - Very rare | | | 16 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | CHAMP1 CL E G H | 283489 | 20311 | OMIM:616579 | Mental retardation, autosomal dominant 40 | | | | 16 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 65 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 65 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 6 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040282 - Frequent | | | 54 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040282 - Frequent | | | 291 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040282 - Frequent | | | 291 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | HP:0040282 - Frequent | | | 41 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | HP:0040283 - Occasional | | | 41 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040282 - Frequent | | | 250 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | HP:0040282 - Frequent | | | 145 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | HP:0040282 - Frequent | | | 145 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | FXR1 CL E G H | 8087 | 4023 | OMIM:618822 | MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF | | | | | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040282 - Frequent | | | 240 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | . | | | 115 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | IDUA CL E G H | 3425 | 5391 | OMIM:607016 | Scheie syndrome | . | | | 115 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | HP:0040283 - Occasional | | | 191 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | LRPPRC CL E G H | 10128 | 15714 | ORPHA:70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | HP:0040283 - Occasional | | | 191 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | 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:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 63 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 63 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | MCM3AP CL E G H | 8888 | 6946 | OMIM:618124 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | | | | 3 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | NACC1 CL E G H | 112939 | 20967 | OMIM:617393 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | | | | 1 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | 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:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 121 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 121 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:99803 | Haddad syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:423479 | X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | RET CL E G H | 5979 | 9967 | ORPHA:99803 | Haddad syndrome | HP:0040281 - Very frequent | | | 572 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | SH3BP2 CL E G H | 6452 | 10825 | ORPHA:184 | Cherubism | HP:0040283 - Occasional | | | 177 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 2 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 28 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 28 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 9 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 9 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 2 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | 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:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 37 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 37 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 4 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 4 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | . | | | 214 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | USP7 CL E G H | 7874 | 12630 | OMIM:616863 | Chromosome 16p13.2 deletion syndrome | | | | 2 | | |
HP:0002104 | HP:0010536 | Central sleep apnea | 2 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 2 | | |
HP:0002104 | HP:0002870 | Obstructive sleep apnea | 2 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |