Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001622 | HP:0001622 | Premature birth | 0 | ABCA12 CL E G H | 26154 | 14637 | OMIM:242500 | Ichthyosis, congenital, autosomal recessive 4B | . | | | 130 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ABCA3 CL E G H | 21 | 33 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ABCB11 CL E G H | 8647 | 42 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040284 - Very rare | | | 146 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ABCB4 CL E G H | 5244 | 45 | OMIM:614972 | Cholestasis, intrahepatic, of pregnancy 3 | . | | | 111 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ABCB4 CL E G H | 5244 | 45 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040284 - Very rare | | | 111 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | AIMP1 CL E G H | 9255 | 10648 | OMIM:260600 | Leukodystrophy, hypomyelinating, 3 | . | | | 4 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ALB CL E G H | 213 | 399 | ORPHA:86816 | Congenital analbuminemia | HP:0040282 - Frequent | | | 104 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040282 - Frequent | | | 46 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ASCC1 CL E G H | 51008 | 24268 | OMIM:616867 | Spinal muscular atrophy with congenital bone fractures 2 | | | | 2 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ATP8B1 CL E G H | 5205 | 3706 | OMIM:147480 | Cholestasis, intrahepatic, of pregnancy, 1 | . | | | 144 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ATP8B1 CL E G H | 5205 | 3706 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040284 - Very rare | | | 144 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | . | | | 53 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 53 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:618541 | Hypopigmentation, organomegaly, and delayed myelination and development | . | | | 102 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 9 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 9 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 27 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 27 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:619033 | VISSERS-BODMER SYNDROME; VIBOS | | | | 2 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166210 | Osteogenesis imperfecta, type IIA | . | | | 373 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:166210 | Osteogenesis imperfecta, type IIA | . | | | 243 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 749 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:130000 | Ehlers-danlos syndrome, type I | | | | 660 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 325 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | COPB2 CL E G H | 9276 | 2232 | OMIM:619884 | | | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | CRB2 CL E G H | 286204 | 18688 | OMIM:219730 | Ventriculomegaly with cystic kidney disease | HP:0040283 - Occasional | | | 12 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | DHPS CL E G H | 1725 | 2869 | OMIM:618480 | Neurodevelopmental disorder with seizures and speech and walking impairment | HP:0040284 - Very rare | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | 1 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | 1 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040282 - Frequent | | | 92 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | FCSK CL E G H | 197258 | 29500 | OMIM:618324 | Congenital disorder of glycosylation with defective fucosylation 2 | | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | FDXR CL E G H | 2232 | 3642 | ORPHA:543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | HP:0040283 - Occasional | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | . | | | 233 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | FLVCR2 CL E G H | 55640 | 20105 | OMIM:225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | . | | | 47 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:90050 | Retinopathy of prematurity | HP:0040281 - Very frequent | | | 109 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | GALK1 CL E G H | 2584 | 4118 | ORPHA:79237 | Galactokinase deficiency | HP:0040284 - Very rare | | | 23 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | GATB CL E G H | 5188 | 8849 | OMIM:618838 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41 | | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | GATC CL E G H | 283459 | 25068 | OMIM:618839 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42 | | | | 1 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | | | | 120 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:2133 | Hemoglobin E disease | HP:0040283 - Occasional | | | 580 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | HP:0040281 - Very frequent | | | 25 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | HP:0040281 - Very frequent | | | 31 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | HP:0040281 - Very frequent | | | 167 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | KLHL40 CL E G H | 131377 | 30372 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 28 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | LAGE3 CL E G H | 8270 | 26058 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | LMOD3 CL E G H | 56203 | 6649 | OMIM:616165 | Nemaline myopathy 10 | . | | | 11 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:90050 | Retinopathy of prematurity | HP:0040281 - Very frequent | | | 125 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | MAGED2 CL E G H | 10916 | 16353 | OMIM:300971 | Bartter syndrome, type 5, antenatal, transient | . | | | 6 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | HP:0040282 - Frequent | | | 228 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | 1 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | 1 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | | | | 185 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | MTM1 CL E G H | 4534 | 7448 | ORPHA:596 | X-linked centronuclear myopathy | | | | 185 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | . | | | 72 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:1880 | Ebstein malformation of the tricuspid valve | HP:0040281 - Very frequent | | | 1269 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:90050 | Retinopathy of prematurity | HP:0040281 - Very frequent | | | 39 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:301021 | Mitochondrial complex I deficiency, nuclear type 30 | . | | | 3 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | NDUFB3 CL E G H | 4709 | 7698 | OMIM:618246 | Mitochondrial complex I deficiency, nuclear type 25 | . | | | 9 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040283 - Occasional | | | 217 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 452 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | NR1H4 CL E G H | 9971 | 7967 | ORPHA:69665 | Intrahepatic cholestasis of pregnancy | HP:0040284 - Very rare | | | 14 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | OSGEP CL E G H | 55644 | 18028 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 169 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 75 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 66 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 46 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 62 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 106 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 99 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PNPO CL E G H | 55163 | 30260 | ORPHA:79096 | Pyridoxal phosphate-responsive seizures | HP:0040282 - Frequent | | | 92 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PNPO CL E G H | 55163 | 30260 | OMIM:610090 | Pyridoxamine 5-prime-phosphate oxidase deficiency | . | | | 92 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | HP:0040281 - Very frequent | | | 58 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:215045 | Chondrodysplasia, Blomstrand type | . | | | 58 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | QRSL1 CL E G H | 55278 | 21020 | OMIM:618835 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 | | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | . | | | 15 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SERPINE1 CL E G H | 5054 | 8583 | ORPHA:465 | Congenital plasminogen activator inhibitor type 1 deficiency | HP:0040282 - Frequent | | | 39 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SFTPB CL E G H | 6439 | 10801 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SFTPC CL E G H | 6440 | 10802 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | HP:0040284 - Very rare | | | 57 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SLC26A3 CL E G H | 1811 | 3018 | OMIM:214700 | Diarrhea 1, secretory chloride, congenital | . | | | 89 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SLC27A4 CL E G H | 10999 | 10998 | OMIM:608649 | ICHTHYOSIS PREMATURITY SYNDROME; IPS | | | | 26 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SLC27A4 CL E G H | 10999 | 10998 | ORPHA:88621 | Ichthyosis-prematurity syndrome | HP:0040281 - Very frequent | | | 26 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | | | | 6 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 124 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | THOC2 CL E G H | 57187 | 19073 | OMIM:300957 | Mental retardation, X-linked 12/35 | | | | 5 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | TP53RK CL E G H | 112858 | 16197 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | TPRKB CL E G H | 51002 | 24259 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | TSHR CL E G H | 7253 | 12373 | OMIM:609152 | Hyperthyroidism, nonautoimmune | . | | | 97 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:619738 | PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3 | | | | 2 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | WDR4 CL E G H | 10785 | 12756 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | WDR73 CL E G H | 84942 | 25928 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 83 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | . | | | 83 | | |
HP:0001622 | HP:0001622 | Premature birth | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0001622 | HP:0025666 | Very preterm birth | 1 | CL E G H | | | | | | | | | | |
HP:0001622 | HP:0025665 | Extremely preterm birth | 1 | CL E G H | | | | | | | | | | |
HP:0001622 | HP:0025664 | Moderate to late preterm birth | 1 | CL E G H | | | | | | | | | | |
HP:0001622 | HP:0005267 | Premature delivery because of cervical insufficiency or membrane fragility | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | . | | | 749 | | |
HP:0001622 | HP:0005100 | Premature birth following premature rupture of fetal membranes | 1 | COL5A1 CL E G H | 1289 | 2209 | OMIM:130000 | Ehlers-danlos syndrome, type I | . | | | 660 | | |
HP:0001622 | HP:0005267 | Premature delivery because of cervical insufficiency or membrane fragility | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0001622 | HP:0005267 | Premature delivery because of cervical insufficiency or membrane fragility | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 83 | | |