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:0000774 | HP:0000774 | Narrow chest | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 254 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | HP:0040283 - Occasional | | | 23 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | AGRN CL E G H | 375790 | 329 | OMIM:615120 | Myasthenic syndrome, congenital, 8 | . | | | 127 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:565 | Menkes disease | HP:0040282 - Frequent | | | 192 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | . | | | 192 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040283 - Occasional | | | 192 | | |
HP:0000774 | HP:0000774 | Narrow chest | 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:0000774 | HP:0000774 | Narrow chest | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | . | | | 29 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | . | | | 272 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | CASR CL E G H | 846 | 1514 | ORPHA:417 | Neonatal severe primary hyperparathyroidism | HP:0040281 - Very frequent | | | 272 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | HP:0040284 - Very rare | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | . | | | 7 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0000774 | HP:0000774 | Narrow chest | 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:0000774 | HP:0000774 | Narrow chest | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | . | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 102 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | HP:0040281 - Very frequent | | | 215 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | HP:0040281 - Very frequent | | | 215 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | HP:0040281 - Very frequent | | | 222 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93296 | Achondrogenesis type 2 | HP:0040282 - Frequent | | | 284 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | HP:0040281 - Very frequent | | | 284 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | . | | | 284 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | CREB3L1 CL E G H | 90993 | 18856 | OMIM:616229 | Osteogenesis imperfecta, type XVI | | | | 4 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | CRTAP CL E G H | 10491 | 2379 | OMIM:610682 | Osteogenesis imperfecta, type VII | . | | | 124 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | HP:0040283 - Occasional | | | 39 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | DLG3 CL E G H | 1741 | 2902 | OMIM:300850 | MENTAL RETARDATION, X-LINKED 90; MRX90 | | | | 30 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | 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:0000774 | HP:0000774 | Narrow chest | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:251230 | Microcephaly-Micromelia syndrome | . | | | 9 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | 304 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | 304 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | DYNC2I1 CL E G H | 55112 | 21862 | OMIM:615503 | Short rib-polydactyly syndrome, type VI | . | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | DYNC2I2 CL E G H | 89891 | 28296 | OMIM:615633 | Short-Rib thoracic dysplasia 11 with or without polydactyly | . | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | OMIM:617088 | Short-rib thoracic dysplasia 15 with polydactyly | | | | 7 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | DYNLT2B CL E G H | 255758 | 28482 | OMIM:617405 | Short-Rib thoracic dysplasia 17 with or without polydactyly | . | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 209 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 209 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 137 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 137 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 114 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | . | | | 175 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:1860 | Thanatophoric dysplasia type 1 | HP:0040281 - Very frequent | | | 145 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:93274 | Thanatophoric dysplasia type 2 | HP:0040281 - Very frequent | | | 145 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | . | | | 145 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187601 | Thanatophoric dysplasia, type II | . | | | 145 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:2484 | Melnick-Needles syndrome | HP:0040281 - Very frequent | | | 493 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040281 - Very frequent | | | 493 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:1190 | Atelosteogenesis type I | HP:0040282 - Frequent | | | 233 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | . | | | 233 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:1263 | Boomerang dysplasia | HP:0040281 - Very frequent | | | 233 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040282 - Frequent | | | 240 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | HP:0040282 - Frequent | | | 3 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | . | | | 3 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | HHAT CL E G H | 55733 | 18270 | ORPHA:1422 | Chondrodysplasia-disorder of sex development syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | HHAT CL E G H | 55733 | 18270 | OMIM:600092 | Nivelon-Nivelon-Mabille syndrome | | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | HP:0040282 - Frequent | | | 345 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 93 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | 148 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:614099 | Cranioectodermal dysplasia 3 | . | | | 11 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 4 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | IFT80 CL E G H | 57560 | 29262 | OMIM:611263 | Asphyxiating thoracic dystrophy 2 | . | | | 65 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | 65 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | . | | | 2 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | IHH CL E G H | 3549 | 5956 | ORPHA:63446 | Acrocapitofemoral dysplasia | HP:0040283 - Occasional | | | 44 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:2746 | Opsismodysplasia | HP:0040283 - Occasional | | | 18 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | . | | | 18 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040281 - Very frequent | | | 18 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | . | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | . | | | 6 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 80 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 23 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | . | | | 24 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | KLHL41 CL E G H | 10324 | 16905 | OMIM:615731 | Nemaline myopathy 9 | HP:0040283 - Occasional | | | 13 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | . | | | 5 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | LBR CL E G H | 3930 | 6518 | ORPHA:1426 | Greenberg dysplasia | HP:0040282 - Frequent | | | 70 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:157973 | Congenital muscular dystrophy due to LMNA mutation | HP:0040283 - Occasional | | | 645 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | 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:0000774 | HP:0000774 | Narrow chest | 0 | MESD CL E G H | 23184 | 13520 | OMIM:618644 | OSTEOGENESIS IMPERFECTA, TYPE XX; OI20 | | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | . | | | 101 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | . | | | 9 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | . | | | 1 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | HP:0040283 - Occasional | | | 531 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | PLCB3 CL E G H | 5331 | 9056 | OMIM:618961 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD | | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | POR CL E G H | 5447 | 9208 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | . | | | 76 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | HP:0040281 - Very frequent | | | 58 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040282 - Frequent | | | 37 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040281 - Very frequent | | | 90 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | SEC23A CL E G H | 10484 | 10701 | ORPHA:50814 | Craniolenticulosutural dysplasia | HP:0040282 - Frequent | | | 2 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | SEC23A CL E G H | 10484 | 10701 | OMIM:607812 | Craniolenticulosutural dysplasia | | | | 2 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | SERPINH1 CL E G H | 871 | 1546 | OMIM:613848 | Osteogenesis imperfecta, type X | . | | | 52 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93298 | Achondrogenesis type 1B | HP:0040281 - Very frequent | | | 166 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:600972 | Achondrogenesis, type IB | . | | | 166 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040282 - Frequent | | | 166 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | SLC35D1 CL E G H | 23169 | 20800 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040281 - Very frequent | | | 9 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | . | | | 9 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | . | | | 93 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | HP:0040281 - Very frequent | | | 109 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:613885 | Meckel syndrome, type 8 | | | | 76 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TMCO1 CL E G H | 54499 | 18188 | ORPHA:1394 | Cerebrofaciothoracic dysplasia | HP:0040281 - Very frequent | | | 6 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 44 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:93299 | Achondrogenesis type 1A | HP:0040281 - Very frequent | | | 133 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | | | | 133 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:166272 | Odontochondrodysplasia | HP:0040281 - Very frequent | | | 133 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | . | | | 133 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | HP:0040281 - Very frequent | | | 214 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | . | | | 214 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TRPV6 CL E G H | 55503 | 14006 | OMIM:618188 | Hyperparathyroidism, transient neonatal | . | | | 4 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TRPV6 CL E G H | 55503 | 14006 | ORPHA:417 | Neonatal severe primary hyperparathyroidism | HP:0040281 - Very frequent | | | 4 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | 132 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | TTC21B CL E G H | 79809 | 25660 | OMIM:613819 | Short-Rib thoracic dysplasia 4 with or without polydactyly | . | | | 132 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | UPF3B CL E G H | 65109 | 20439 | OMIM:300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | | | | 33 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 95 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614378 | Cranioectodermal dysplasia 4 | . | | | 95 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:474 | Jeune syndrome | HP:0040281 - Very frequent | | | 95 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | . | | | 95 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 136 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | 136 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | | | | 136 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | ZBTB20 CL E G H | 26137 | 13503 | ORPHA:3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | . | | | 17 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | . | | | 19 | | |
HP:0000774 | HP:0000774 | Narrow chest | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |