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:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | | | | 68 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | ALPL CL E G H | 249 | 438 | OMIM:241500 | Hypophosphatasia, infantile | | | | 126 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | | | | 168 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | | | | 38 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | | | | 17 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | BMPER CL E G H | 168667 | 24154 | ORPHA:66637 | Diaphanospondylodysostosis | | | | 78 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | | | | 78 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | | | | 27 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | CENPJ CL E G H | 55835 | 17272 | OMIM:613676 | Seckel syndrome 4 | | | | 161 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | | | | 7 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | CEP152 CL E G H | 22995 | 29298 | OMIM:613823 | Seckel syndrome 5 | | | | 146 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | | | | 215 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | | | | 215 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | | | | 222 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | COL11A2 CL E G H | 1302 | 2187 | OMIM:614524 | Fibrochondrogenesis 2 | | | | 222 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93296 | Achondrogenesis type 2 | | | | 284 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:200610 | Achondrogenesis, type II | | | | 284 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | | | | 284 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | | | | 127 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | | | | 45 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:618724 | HEYN-SPROUL-JACKSON SYNDROME; HESJAS | | | | 44 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | | | | 304 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 304 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | DYNC2I1 CL E G H | 55112 | 21862 | OMIM:615503 | Short rib-polydactyly syndrome, type VI | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | | | | 7 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | DYNLT2B CL E G H | 255758 | 28482 | OMIM:617405 | Short-Rib thoracic dysplasia 17 with or without polydactyly | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 209 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 137 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | | | | 1361 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | | | | 145 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | | | | 145 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187601 | Thanatophoric dysplasia, type II | | | | 145 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | | | | 493 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | | | | 233 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | | | | 3 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252600 | Mucolipidosis III alpha/beta | | | | 240 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | | | | 3 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | HDAC6 CL E G H | 10013 | 14064 | OMIM:300863 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | | | | 2 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | HES7 CL E G H | 84667 | 15977 | OMIM:613686 | Spondylocostal dysostosis 4, autosomal recessive | | | | 10 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | | | | 345 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | | | | 48 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 | | | | 11 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 65 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | | | | 2 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:3144 | Schneckenbecken dysplasia | | | | 18 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | | | | 24 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | | | | 5 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | MYF5 CL E G H | 4617 | 7565 | OMIM:618155 | Ophthalmoplegia, external, with rib and vertebral anomalies | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | | | | 48 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | | | | 10 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | | | | 39 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | PAICS CL E G H | 10606 | 8587 | OMIM:619859 | | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | | | | 1 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | PLCB3 CL E G H | 5331 | 9056 | OMIM:618961 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | | | | 20 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | | | | 58 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:215045 | Chondrodysplasia, Blomstrand type | | | | 58 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | | | | 58 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | | | | 291 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | | | | 90 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 20 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | | | | 150 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:600972 | Achondrogenesis, type IB | | | | 166 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SLC35D1 CL E G H | 23169 | 20800 | ORPHA:3144 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SNRPB CL E G H | 6628 | 11153 | OMIM:117650 | Cerebrocostomandibular syndrome | | | | 6 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | | | | 33 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | | | | 33 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | | | | 109 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | | | | 13 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | TBX6 CL E G H | 6911 | 11605 | ORPHA:1797 | Autosomal dominant spondylocostal dysostosis | | | | 19 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | TBX6 CL E G H | 6911 | 11605 | OMIM:122600 | Spondylocostal dysostosis 5 | | | | 19 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | | | | 133 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | TRPV6 CL E G H | 55503 | 14006 | OMIM:618188 | Hyperparathyroidism, transient neonatal | | | | 4 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | | | | 35 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | | | | 111 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | | | | 83 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | | | | 136 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 136 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | | | | 136 | | |
HP:0006712 | HP:0006712 | Aplasia/Hypoplasia of the ribs | 0 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | | | | 12 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | . | | | 68 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | ALPL CL E G H | 249 | 438 | OMIM:241500 | Hypophosphatasia, infantile | . | | | 126 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | | | | 168 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | | | | 38 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | | | | 17 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | | | | 13 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | BMPER CL E G H | 168667 | 24154 | ORPHA:66637 | Diaphanospondylodysostosis | HP:0040281 - Very frequent | | | 78 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | . | | | 27 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | CENPJ CL E G H | 55835 | 17272 | OMIM:613676 | Seckel syndrome 4 | | | | 161 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | . | | | 7 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | CEP152 CL E G H | 22995 | 29298 | OMIM:613823 | Seckel syndrome 5 | | | | 146 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | HP:0040281 - Very frequent | | | 215 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | HP:0040281 - Very frequent | | | 222 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | COL11A2 CL E G H | 1302 | 2187 | OMIM:614524 | Fibrochondrogenesis 2 | . | | | 222 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93296 | Achondrogenesis type 2 | HP:0040282 - Frequent | | | 284 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:200610 | Achondrogenesis, type II | . | | | 284 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | . | | | 284 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | . | | | 127 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | . | | | | | |
HP:0006712 | HP:0000773 | Short ribs | 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:0006712 | HP:0000921 | Missing ribs | 1 | DNMT3A CL E G H | 1788 | 2978 | OMIM:618724 | HEYN-SPROUL-JACKSON SYNDROME; HESJAS | | | | 44 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | . | | | 304 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | 304 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | DYNC2I1 CL E G H | 55112 | 21862 | OMIM:615503 | Short rib-polydactyly syndrome, type VI | . | | | | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | . | | | 7 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | DYNLT2B CL E G H | 255758 | 28482 | OMIM:617405 | Short-Rib thoracic dysplasia 17 with or without polydactyly | | | | | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 209 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 137 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | | | | 145 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | . | | | 145 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187601 | Thanatophoric dysplasia, type II | . | | | 145 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | | | | 233 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | HP:0040283 - Occasional | | | 3 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252600 | Mucolipidosis III alpha/beta | . | | | 240 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | | | | 3 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | . | | | 3 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | HDAC6 CL E G H | 10013 | 14064 | OMIM:300863 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | | | | 2 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | HES7 CL E G H | 84667 | 15977 | OMIM:613686 | Spondylocostal dysostosis 4, autosomal recessive | . | | | 10 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | HP:0040283 - Occasional | | | 345 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | HP:0040283 - Occasional | | | 148 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | . | | | 48 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | IFT43 CL E G H | 112752 | 29669 | OMIM:617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 | | | | 11 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | IFT43 CL E G H | 112752 | 29669 | OMIM:617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 | | | | 11 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | 65 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | | | | 2 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040281 - Very frequent | | | 18 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | . | | | | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | . | | | 24 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | | | | 5 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0006712 | HP:0000773 | Short ribs | 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:0006712 | HP:0000921 | Missing ribs | 1 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | MYF5 CL E G H | 4617 | 7565 | OMIM:618155 | Ophthalmoplegia, external, with rib and vertebral anomalies | . | | | | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | MYF5 CL E G H | 4617 | 7565 | OMIM:618155 | Ophthalmoplegia, external, with rib and vertebral anomalies | . | | | | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | | | | 48 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | | | | | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | . | | | 10 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | PAICS CL E G H | 10606 | 8587 | OMIM:619859 | | | | | | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | . | | | 1 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | PLCB3 CL E G H | 5331 | 9056 | OMIM:618961 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD | | | | | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040282 - Frequent | | | 20 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | . | | | 665 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | . | | | 40 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | HP:0040281 - Very frequent | | | 58 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | PTH1R CL E G H | 5745 | 9608 | OMIM:215045 | Chondrodysplasia, Blomstrand type | . | | | 58 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | . | | | 58 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | . | | | 291 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | . | | | 120 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | | | |
HP:0006712 | HP:0000773 | Short ribs | 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:0006712 | HP:0000773 | Short ribs | 1 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | | | | 49 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:600972 | Achondrogenesis, type IB | . | | | 166 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040282 - Frequent | | | 166 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | . | | | 9 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | SLC35D1 CL E G H | 23169 | 20800 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040281 - Very frequent | | | 9 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | . | | | 22 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | SNRPB CL E G H | 6628 | 11153 | OMIM:117650 | Cerebrocostomandibular syndrome | | | | 6 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | | | | 33 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | | | | 109 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | . | | | 124 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | | | | 13 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | TBX6 CL E G H | 6911 | 11605 | ORPHA:1797 | Autosomal dominant spondylocostal dysostosis | HP:0040283 - Occasional | | | 19 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | TBX6 CL E G H | 6911 | 11605 | OMIM:122600 | Spondylocostal dysostosis 5 | . | | | 19 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | . | | | 133 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | . | | | 214 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | TRPV6 CL E G H | 55503 | 14006 | OMIM:618188 | Hyperparathyroidism, transient neonatal | . | | | 4 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | HP:0040282 - Frequent | | | 35 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | HP:0040283 - Occasional | | | 111 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | . | | | 83 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | 136 | | |
HP:0006712 | HP:0000773 | Short ribs | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | | | | 136 | | |
HP:0006712 | HP:0000921 | Missing ribs | 1 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0006712 | HP:0030300 | 10 pairs of ribs | 2 | CL E G H | | | | | | | | | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | ALDH1A2 CL E G H | 8854 | 15472 | OMIM:620025 | | | | | | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | . | | | 168 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | 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:0006712 | HP:0000878 | 11 pairs of ribs | 2 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | | | | 17 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | CENPJ CL E G H | 55835 | 17272 | OMIM:613676 | Seckel syndrome 4 | . | | | 161 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | CEP152 CL E G H | 22995 | 29298 | OMIM:613823 | Seckel syndrome 5 | HP:0040283 - Occasional | | | 146 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | 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:0006712 | HP:0000878 | 11 pairs of ribs | 2 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0006712 | HP:0006668 | Twelfth rib hypoplasia | 2 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | DNMT3A CL E G H | 1788 | 2978 | OMIM:618724 | HEYN-SPROUL-JACKSON SYNDROME; HESJAS | | | | 44 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | . | | | 233 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | . | | | 3 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | HDAC6 CL E G H | 10013 | 14064 | OMIM:300863 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | HP:0040283 - Occasional | | | 2 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0006712 | HP:0006668 | Twelfth rib hypoplasia | 2 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | | | | 5 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0006712 | HP:0006657 | Hypoplasia of first ribs | 2 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | | | | 48 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | HP:0040284 - Very rare | | | | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0006712 | HP:0006657 | Hypoplasia of first ribs | 2 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0006712 | HP:0006657 | Hypoplasia of first ribs | 2 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | SNRPB CL E G H | 6628 | 11153 | OMIM:117650 | Cerebrocostomandibular syndrome | . | | | 6 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | HP:0040281 - Very frequent | | | 109 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040284 - Very rare | | | 271 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040284 - Very rare | | | 13 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0006712 | HP:0000878 | 11 pairs of ribs | 2 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |