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:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | ABL1 CL E G H | 25 | 76 | OMIM:617602 | Congenital heart defects and skeletal malformations syndrome | . | | | 51 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040284 - Very rare | | | 9 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | ANAPC7 CL E G H | 51434 | 17380 | OMIM:619699 | FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON | | | | | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | AR CL E G H | 367 | 644 | ORPHA:95706 | Non-syndromic posterior hypospadias | HP:0040283 - Occasional | | | 125 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 5 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 165 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | CHUK CL E G H | 1147 | 1974 | OMIM:613630 | Fetal encasement syndrome | | | | 3 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 6 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:63260 | Craniorachischisis | HP:0040283 - Occasional | | | 2 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | . | | | 164 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | DLL3 CL E G H | 10683 | 2909 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | EFEMP2 CL E G H | 30008 | 3219 | OMIM:614437 | Cutis laxa, autosomal recessive, type IB | . | | | 45 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | HP:0040283 - Occasional | | | 27 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:219100 | Cutis laxa, autosomal recessive, type IA | . | | | 63 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:99811 | Neuronal intestinal pseudoobstruction | HP:0040282 - Frequent | | | 493 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2140 | Congenital diaphragmatic hernia | HP:0040281 - Very frequent | | | 37 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | HP:0040284 - Very rare | | | 37 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:36 | Acrocallosal syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:380 | Greig cephalopolysyndactyly syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | 73 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 11 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | HES7 CL E G H | 84667 | 15977 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 10 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | HP:0040282 - Frequent | | | 25 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:972 | Hereditary continuous muscle fiber activity | HP:0040283 - Occasional | | | 145 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | KDM3B CL E G H | 51780 | 1337 | OMIM:618846 | DIETS-JONGMANS SYNDROME; DIJOS | | | | | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040283 - Occasional | | | 53 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | . | | | 24 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:36 | Acrocallosal syndrome | HP:0040283 - Occasional | | | 167 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | LFNG CL E G H | 3955 | 6560 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 13 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:2140 | Congenital diaphragmatic hernia | HP:0040281 - Very frequent | | | 8 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040282 - Frequent | | | 289 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | MAFB CL E G H | 9935 | 6408 | OMIM:166300 | Multicentric carpotarsal osteolysis syndrome | | | | 63 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | MAMLD1 CL E G H | 10046 | 2568 | ORPHA:95706 | Non-syndromic posterior hypospadias | HP:0040283 - Occasional | | | 5 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | | | | 11 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040282 - Frequent | | | 3 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | MESP2 CL E G H | 145873 | 29659 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563609 | Isolated anencephaly | HP:0040283 - Occasional | | | 183 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | MYRF CL E G H | 745 | 1181 | OMIM:618280 | Cardiac-Urogenital syndrome | | | | 2 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 3 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 494 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | NR2F2 CL E G H | 7026 | 7976 | OMIM:618901 | 46,XX SEX REVERSAL 5; SRXX5 | | | | 13 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | . | | | 3 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | PCNA CL E G H | 5111 | 8729 | ORPHA:438134 | PCNA-related progressive neurodegenerative photosensitivity syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | HP:0040283 - Occasional | | | 37 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040283 - Occasional | | | 20 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | PPM1D CL E G H | 8493 | 9277 | OMIM:617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | | | | 22 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | RARB CL E G H | 5915 | 9865 | ORPHA:2470 | Matthew-Wood syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | RARB CL E G H | 5915 | 9865 | OMIM:615524 | Microphthalmia, syndromic 12 | . | | | 9 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | RIPPLY2 CL E G H | 134701 | 21390 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 3 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | HP:0040284 - Very rare | | | 7 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | RPS26 CL E G H | 6231 | 10414 | OMIM:613309 | Diamond-blackfan anemia 10 | HP:0040283 - Occasional | | | 20 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | RPS28 CL E G H | 6234 | 10418 | OMIM:606164 | Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | . | | | 1 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618022 | Humerofemoral hypoplasia with radiotibial ray deficiency | . | | | | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | HP:0040284 - Very rare | | | | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | . | | | 178 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | | | | 87 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301022 | Neurodevelopmental disorder, X-linked, with craniofacial abnormalities | HP:0040284 - Very rare | | | 1 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | STRA6 CL E G H | 64220 | 30650 | ORPHA:2470 | Matthew-Wood syndrome | HP:0040282 - Frequent | | | 71 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | STRA6 CL E G H | 64220 | 30650 | OMIM:601186 | Microphthalmia, syndromic 9 | . | | | 71 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | TRAIP CL E G H | 10293 | 30764 | OMIM:616777 | Seckel syndrome 9 | . | | | 2 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563609 | Isolated anencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | WNT3 CL E G H | 7473 | 12782 | OMIM:273395 | Tetraamelia, autosomal recessive | | | | 12 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | WNT4 CL E G H | 54361 | 12783 | OMIM:611812 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | . | | | 4 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | WNT4 CL E G H | 54361 | 12783 | ORPHA:139466 | SERKAL syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194080 | Denys-Drash syndrome | . | | | 177 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:3097 | Meacham syndrome | HP:0040281 - Very frequent | | | 177 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:2140 | Congenital diaphragmatic hernia | HP:0040281 - Very frequent | | | 31 | | |
HP:0000776 | HP:0000776 | Congenital diaphragmatic hernia | 0 | ZFPM2 CL E G H | 23414 | 16700 | OMIM:610187 | DIAPHRAGMATIC HERNIA 3; DIH3 | | | | 31 | | |
HP:0000776 | HP:0025193 | Posterolateral diaphragmatic hernia | 1 | CL E G H | | | | | | | | | | |
HP:0000776 | HP:0009112 | Aplasia of the left hemidiaphragm | 1 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0000776 | HP:0032592 | Aplasia of the right hemidiaphragm | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000776 | HP:0009112 | Aplasia of the left hemidiaphragm | 1 | GATA6 CL E G H | 2627 | 4174 | OMIM:600001 | Pancreatic agenesis and congenital heart defects | | | | 37 | | |
HP:0000776 | HP:0009112 | Aplasia of the left hemidiaphragm | 1 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0000776 | HP:0009112 | Aplasia of the left hemidiaphragm | 1 | NR2F2 CL E G H | 7026 | 7976 | OMIM:618901 | 46,XX SEX REVERSAL 5; SRXX5 | | | | 13 | | |
HP:0000776 | HP:0025195 | Central diaphragmatic hernia | 1 | PPM1D CL E G H | 8493 | 9277 | OMIM:617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | | | | 22 | | |
HP:0000776 | HP:0025194 | Morgagni diaphragmatic hernia | 1 | RPS26 CL E G H | 6231 | 10414 | OMIM:613309 | Diamond-blackfan anemia 10 | | | | 20 | | |
HP:0000776 | HP:0025195 | Central diaphragmatic hernia | 1 | SMARCB1 CL E G H | 6598 | 11103 | OMIM:614608 | Coffin-Siris syndrome 3 | | | | 87 | | |
HP:0000776 | HP:0032592 | Aplasia of the right hemidiaphragm | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |
HP:0000776 | HP:0009112 | Aplasia of the left hemidiaphragm | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:608978 | MEACHAM SYNDROME | | | | 177 | | |