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:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:614096 | Combined oxidative phosphorylation deficiency 8 | | | | 143 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ACE CL E G H | 1636 | 2707 | OMIM:267430 | Renal tubular dysgenesis | | | | 113 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 96 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | | | | 5 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | AGT CL E G H | 183 | 333 | OMIM:267430 | Renal tubular dysgenesis | | | | 48 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | AGTR1 CL E G H | 185 | 336 | OMIM:267430 | Renal tubular dysgenesis | | | | 33 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | | | | 37 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ASCC1 CL E G H | 51008 | 24268 | OMIM:616867 | Spinal muscular atrophy with congenital bone fractures 2 | | | | 2 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ATP5F1A CL E G H | 498 | 823 | OMIM:615228 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 4 | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | | | | 38 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:2725 | Eye defects-arachnodactyly-cardiopathy syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | | | | 78 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | | | | 247 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | | | | 9 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | | | | 7 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 74 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 88 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | | | | 68 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 68 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93296 | Achondrogenesis type 2 | | | | 284 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | | | | 284 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | | | | 284 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | COQ7 CL E G H | 10229 | 2244 | OMIM:616733 | Coenzyme Q10 deficiency, primary, 8 | | | | 1 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | | | | 57 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 91 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:251230 | Microcephaly-Micromelia syndrome | | | | 9 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | | | | 38 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 304 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 304 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | DYNC2I1 CL E G H | 55112 | 21862 | OMIM:615503 | Short rib-polydactyly syndrome, type VI | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 4 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 37 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 27 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | | | | 77 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 209 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | | | | 35 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:314390 | VACTERL association, X-linked | | | | 58 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | | | | 58 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | FGF20 CL E G H | 26281 | 3677 | ORPHA:1848 | Renal agenesis, bilateral | | | | 2 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | FGF20 CL E G H | 26281 | 3677 | OMIM:615721 | Renal hypodysplasia/aplasia 2 | | | | 2 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | | | | 145 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:1860 | Thanatophoric dysplasia type 1 | HP:0040282 - Frequent | | | 145 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:93274 | Thanatophoric dysplasia type 2 | HP:0040281 - Very frequent | | | 145 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | | | | 145 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | | | | 493 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:1190 | Atelosteogenesis type I | | | | 233 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:1263 | Boomerang dysplasia | HP:0040282 - Frequent | | | 233 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | | | | 353 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | | | | 353 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | | | | 263 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | | | | 3 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2140 | Congenital diaphragmatic hernia | | | | 37 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | GFRA1 CL E G H | 2674 | 4243 | OMIM:619887 | | | | | 1 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | GFRA1 CL E G H | 2674 | 4243 | ORPHA:1848 | Renal agenesis, bilateral | | | | 1 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | GLDN CL E G H | 342035 | 29514 | OMIM:617194 | Lethal congenital contracture syndrome 11 | | | | 6 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:253310 | Lethal congenital contracture syndrome 1 | | | | 45 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | GLE1 CL E G H | 2733 | 4315 | ORPHA:1486 | Lethal congenital contracture syndrome type 1 | | | | 45 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | GPKOW CL E G H | 27238 | 30677 | ORPHA:2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | HP:0040281 - Very frequent | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | GREB1L CL E G H | 80000 | 31042 | ORPHA:1848 | Renal agenesis, bilateral | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | | | | 80 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | HP:0040281 - Very frequent | | | 25 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | | | | 345 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:224410 | Dyssegmental dysplasia, Silverman-Handmaker type | | | | 345 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 65 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | | | | 2 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | | | | 106 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ITGA8 CL E G H | 8516 | 6144 | ORPHA:1848 | Renal agenesis, bilateral | | | | 4 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ITGA8 CL E G H | 8516 | 6144 | OMIM:191830 | Renal hypodysplasia/aplasia 1 | | | | 4 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | | | | 141 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | | | | 141 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | | | | 24 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | KLHL40 CL E G H | 131377 | 30372 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 28 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 13 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | LGI4 CL E G H | 163175 | 18712 | OMIM:617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | | | | 6 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | | | | 144 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | | | | 645 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 11 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:2140 | Congenital diaphragmatic hernia | | | | 8 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | | | | 92 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | MKKS CL E G H | 8195 | 7108 | OMIM:236700 | Mckusick-Kaufman syndrome | | | | 69 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:619351 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2 | | | | 418 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | | | | 166 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | | | | 2 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | NDUFB10 CL E G H | 4716 | 7696 | OMIM:619003 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35 | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 745 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | NEK8 CL E G H | 284086 | 13387 | OMIM:615415 | Renal-Hepatic-Pancreatic dysplasia 2 | | | | 43 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | | | | 9 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3384 | Truncus arteriosus | | | | 3 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3032 | NPHP3-related Meckel-like syndrome | | | | 157 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | | | | 157 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | | | | 37 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | | | | 11 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | | | | 77 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | | | | 37 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 563 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | | | | 563 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:3384 | Truncus arteriosus | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040283 - Occasional | | | 20 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | PRRX1 CL E G H | 5396 | 9142 | OMIM:202650 | Agnathia-Otocephaly complex | | | | 4 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | | | | 58 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 73 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | RARB CL E G H | 5915 | 9865 | ORPHA:2470 | Matthew-Wood syndrome | | | | 9 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | RARB CL E G H | 5915 | 9865 | OMIM:615524 | Microphthalmia, syndromic 12 | | | | 9 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | REN CL E G H | 5972 | 9958 | OMIM:267430 | Renal tubular dysgenesis | | | | 25 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | RET CL E G H | 5979 | 9967 | ORPHA:1848 | Renal agenesis, bilateral | | | | 572 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | | | | 7 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040281 - Very frequent | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 2 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93298 | Achondrogenesis type 1B | HP:0040281 - Very frequent | | | 166 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:256050 | Atelosteogenesis, type II | | | | 166 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | | | | 12 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | | | | 6 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | STRA6 CL E G H | 64220 | 30650 | ORPHA:2470 | Matthew-Wood syndrome | | | | 71 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | | | | 71 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | | | | 31 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | | | | 1 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:93299 | Achondrogenesis type 1A | HP:0040281 - Very frequent | | | 133 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | | | | 133 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | | | | 133 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | HP:0040283 - Occasional | | | 214 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 132 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 106 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | | | | 111 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 95 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 136 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | | | | 136 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | WNT3 CL E G H | 7473 | 12782 | OMIM:273395 | Tetraamelia, autosomal recessive | | | | 12 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | WNT4 CL E G H | 54361 | 12783 | OMIM:611812 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | | | | 4 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | WNT4 CL E G H | 54361 | 12783 | ORPHA:139466 | SERKAL syndrome | | | | 4 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | WNT9B CL E G H | 7484 | 12779 | ORPHA:1848 | Renal agenesis, bilateral | | | | | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | HP:0040281 - Very frequent | | | 177 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:2140 | Congenital diaphragmatic hernia | | | | 31 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ZIC3 CL E G H | 7547 | 12874 | OMIM:314390 | VACTERL association, X-linked | | | | 39 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | | | | 83 | | |
HP:0006703 | HP:0006703 | Aplasia/Hypoplasia of the lungs | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | | | | 83 | | |
HP:0006703 | HP:0033209 | Acinar dysplasia | 1 | CL E G H | | | | | | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | AARS2 CL E G H | 57505 | 21022 | OMIM:614096 | Combined oxidative phosphorylation deficiency 8 | . | | | 143 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ACE CL E G H | 1636 | 2707 | OMIM:267430 | Renal tubular dysgenesis | . | | | 113 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | . | | | 5 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | AGT CL E G H | 183 | 333 | OMIM:267430 | Renal tubular dysgenesis | . | | | 48 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | AGTR1 CL E G H | 185 | 336 | OMIM:267430 | Renal tubular dysgenesis | . | | | 33 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040284 - Very rare | | | 37 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ASCC1 CL E G H | 51008 | 24268 | OMIM:616867 | Spinal muscular atrophy with congenital bone fractures 2 | | | | 2 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ATP5F1A CL E G H | 498 | 823 | OMIM:615228 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 4 | . | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | HP:0040283 - Occasional | | | 101 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | . | | | 247 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | . | | | 9 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | . | | | 7 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 74 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 88 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 68 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93296 | Achondrogenesis type 2 | HP:0040282 - Frequent | | | 284 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | HP:0040282 - Frequent | | | 284 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | | | | 284 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | COQ7 CL E G H | 10229 | 2244 | OMIM:616733 | Coenzyme Q10 deficiency, primary, 8 | | | | 1 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | HP:0040283 - Occasional | | | 57 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | . | | | 159 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 91 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | DONSON CL E G H | 29980 | 2993 | OMIM:251230 | Microcephaly-Micromelia syndrome | . | | | 9 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 304 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | DYNC2I1 CL E G H | 55112 | 21862 | OMIM:615503 | Short rib-polydactyly syndrome, type VI | . | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 4 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ETFA CL E G H | 2108 | 3481 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 37 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ETFB CL E G H | 2109 | 3482 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 27 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ETFDH CL E G H | 2110 | 3483 | OMIM:231680 | Multiple acyl-coa dehydrogenase deficiency | . | | | 77 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | . | | | 35 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | FANCB CL E G H | 2187 | 3583 | OMIM:314390 | VACTERL association, X-linked | | | | 58 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | HP:0040283 - Occasional | | | 58 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | FGF20 CL E G H | 26281 | 3677 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 2 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | FGF20 CL E G H | 26281 | 3677 | OMIM:615721 | Renal hypodysplasia/aplasia 2 | . | | | 2 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | | | | 145 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | | | | 145 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040281 - Very frequent | | | 493 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | FLNB CL E G H | 2317 | 3755 | ORPHA:1190 | Atelosteogenesis type I | HP:0040282 - Frequent | | | 233 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | FRAS1 CL E G H | 80144 | 19185 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 353 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | FREM2 CL E G H | 341640 | 25396 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 263 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | HP:0040283 - Occasional | | | 3 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2140 | Congenital diaphragmatic hernia | HP:0040282 - Frequent | | | 37 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | GFRA1 CL E G H | 2674 | 4243 | OMIM:619887 | | | | | 1 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | GFRA1 CL E G H | 2674 | 4243 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 1 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | GLDN CL E G H | 342035 | 29514 | OMIM:617194 | Lethal congenital contracture syndrome 11 | . | | | 6 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | GLE1 CL E G H | 2733 | 4315 | OMIM:253310 | Lethal congenital contracture syndrome 1 | . | | | 45 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | GLE1 CL E G H | 2733 | 4315 | ORPHA:1486 | Lethal congenital contracture syndrome type 1 | HP:0040281 - Very frequent | | | 45 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | GREB1L CL E G H | 80000 | 31042 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | GRIP1 CL E G H | 23426 | 18708 | ORPHA:2052 | Fraser syndrome | HP:0040283 - Occasional | | | 80 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:224410 | Dyssegmental dysplasia, Silverman-Handmaker type | . | | | 345 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | HP:0040283 - Occasional | | | 345 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 65 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | | | | 2 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | . | | | 106 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ITGA8 CL E G H | 8516 | 6144 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 4 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ITGA8 CL E G H | 8516 | 6144 | OMIM:191830 | Renal hypodysplasia/aplasia 1 | . | | | 4 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | KAT6B CL E G H | 23522 | 17582 | OMIM:606170 | Genitopatellar syndrome | . | | | 141 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | HP:0040283 - Occasional | | | 141 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | . | | | 24 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | KLHL40 CL E G H | 131377 | 30372 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 28 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | LGI4 CL E G H | 163175 | 18712 | OMIM:617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | HP:0040283 - Occasional | | | 6 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | LONP1 CL E G H | 9361 | 9479 | ORPHA:2140 | Congenital diaphragmatic hernia | HP:0040282 - Frequent | | | 8 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | . | | | 92 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040282 - Frequent | | | 3 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | MKKS CL E G H | 8195 | 7108 | OMIM:236700 | Mckusick-Kaufman syndrome | . | | | 69 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 72 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | . | | | 72 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | MYH11 CL E G H | 4629 | 7569 | OMIM:619351 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2 | | | | 418 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | . | | | 2 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | HP:0040283 - Occasional | | | 23 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | NDUFB10 CL E G H | 4716 | 7696 | OMIM:619003 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35 | | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | NEK8 CL E G H | 284086 | 13387 | OMIM:615415 | Renal-Hepatic-Pancreatic dysplasia 2 | . | | | 43 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | . | | | 9 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3384 | Truncus arteriosus | HP:0040283 - Occasional | | | 3 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3032 | NPHP3-related Meckel-like syndrome | HP:0040282 - Frequent | | | 157 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | . | | | 157 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | | | | 11 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | . | | | 77 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | HP:0040283 - Occasional | | | 37 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 563 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | . | | | 563 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:3384 | Truncus arteriosus | HP:0040283 - Occasional | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | PRRX1 CL E G H | 5396 | 9142 | OMIM:202650 | Agnathia-Otocephaly complex | | | | 4 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | HP:0040281 - Very frequent | | | 58 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 73 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | RARB CL E G H | 5915 | 9865 | ORPHA:2470 | Matthew-Wood syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | RARB CL E G H | 5915 | 9865 | OMIM:615524 | Microphthalmia, syndromic 12 | . | | | 9 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040284 - Very rare | | | 16 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | REN CL E G H | 5972 | 9958 | OMIM:267430 | Renal tubular dysgenesis | . | | | 25 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | RET CL E G H | 5979 | 9967 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | 572 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | HP:0040284 - Very rare | | | 7 | | |
HP:0006703 | HP:0005944 | Bilateral lung agenesis | 1 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | . | | | 1200 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | . | | | 2 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 2 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040282 - Frequent | | | 166 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:256050 | Atelosteogenesis, type II | . | | | 166 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | . | | | 22 | | |
HP:0006703 | HP:0030707 | Unilateral lung agenesis | 1 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0006703 | HP:0030707 | Unilateral lung agenesis | 1 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | | | | 6 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | STRA6 CL E G H | 64220 | 30650 | ORPHA:2470 | Matthew-Wood syndrome | HP:0040282 - Frequent | | | 71 | | |
HP:0006703 | HP:0005944 | Bilateral lung agenesis | 1 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | . | | | 71 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | . | | | 71 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | . | | | 2 | | |
HP:0006703 | HP:0005944 | Bilateral lung agenesis | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040283 - Occasional | | | 31 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040283 - Occasional | | | 31 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | TMEM94 CL E G H | 9772 | 28983 | OMIM:618316 | Intellectual developmental disorder with cardiac defects and dysmorphic facies | . | | | 1 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | | | | 133 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | | | | 133 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 106 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | HP:0040283 - Occasional | | | 111 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040283 - Occasional | | | 136 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | . | | | 136 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | WNT3 CL E G H | 7473 | 12782 | OMIM:273395 | Tetraamelia, autosomal recessive | . | | | 12 | | |
HP:0006703 | HP:0005944 | Bilateral lung agenesis | 1 | WNT4 CL E G H | 54361 | 12783 | OMIM:611812 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | HP:0040281 - Very frequent | | | 4 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | WNT4 CL E G H | 54361 | 12783 | OMIM:611812 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | . | | | 4 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | WNT4 CL E G H | 54361 | 12783 | ORPHA:139466 | SERKAL syndrome | HP:0040280 - Obligate | | | 4 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | WNT9B CL E G H | 7484 | 12779 | ORPHA:1848 | Renal agenesis, bilateral | HP:0040281 - Very frequent | | | | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0006703 | HP:0033210 | Congenital alveolar dysplasia | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:2140 | Congenital diaphragmatic hernia | HP:0040282 - Frequent | | | 31 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ZIC3 CL E G H | 7547 | 12874 | OMIM:314390 | VACTERL association, X-linked | | | | 39 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 83 | | |
HP:0006703 | HP:0002089 | Pulmonary hypoplasia | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | . | | | 83 | | |