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:0003510 | HP:0003510 | Severe short stature | 0 | ADAMTS2 CL E G H | 9509 | 218 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 165 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2176 | Infantile systemic hyalinosis | HP:0040281 - Very frequent | | | 49 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | | | | 38 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | HP:0003577 - Congenital onset | | 85 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | CANT1 CL E G H | 124583 | 19721 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 373 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 243 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | . | | | 284 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93316 | Spondylometaphyseal dysplasia, Schmidt type | HP:0040282 - Frequent | | | 284 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | COMP CL E G H | 1311 | 2227 | OMIM:132400 | Epiphyseal dysplasia, multiple, 1 | . | | | 89 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | | | | 4 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | CTSA CL E G H | 5476 | 9251 | OMIM:256540 | Galactosialidosis | . | | | 51 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | HP:0040282 - Frequent | | | | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | HP:0040281 - Very frequent | | | 72 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | DLL3 CL E G H | 10683 | 2909 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | DLX5 CL E G H | 1749 | 2918 | OMIM:220600 | Split-Hand/foot malformation 1 with sensorineural hearing loss | HP:0040283 - Occasional | | | 3 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:618724 | HEYN-SPROUL-JACKSON SYNDROME; HESJAS | | | | 44 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040282 - Frequent | | | 65 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | | | | | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | . | | | 158 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | . | | | 199 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:2319 | Juberg-Hayward syndrome | HP:0040281 - Very frequent | | | 92 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:127000 | Kenny-caffey syndrome, type 2 | . | | | 8 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:102370 | Acromicric dysplasia | . | | | 1361 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:969 | Acromicric dysplasia | HP:0040281 - Very frequent | | | 1361 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2645 | Osteoglosphonic dysplasia | HP:0040281 - Very frequent | | | 172 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | . | | | 145 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:112310 | Boomerang dysplasia | . | | | 233 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | GH1 CL E G H | 2688 | 4261 | OMIM:262400 | Growth hormone deficiency, isolated, type IA | . | | | 50 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | GH1 CL E G H | 2688 | 4261 | OMIM:173100 | Isolated growth hormone deficiency, type II | . | | | 50 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | GHR CL E G H | 2690 | 4263 | OMIM:262500 | Laron syndrome | . | | | 98 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | GHR CL E G H | 2690 | 4263 | ORPHA:633 | Laron syndrome | HP:0040281 - Very frequent | | | 98 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | GHRHR CL E G H | 2692 | 4266 | OMIM:618157 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4 | | | | 44 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | . | | | 120 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | GORAB CL E G H | 92344 | 25676 | ORPHA:2078 | Geroderma osteodysplastica | HP:0040281 - Very frequent | | | 52 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | GORAB CL E G H | 92344 | 25676 | OMIM:231070 | Geroderma osteodysplasticum | . | | | 52 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | HHAT CL E G H | 55733 | 18270 | ORPHA:1422 | Chondrodysplasia-disorder of sex development syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | HHAT CL E G H | 55733 | 18270 | OMIM:600092 | Nivelon-Nivelon-Mabille syndrome | | | | | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | | | | 6 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | HP:0040282 - Frequent | | | 345 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | INPP5K CL E G H | 51763 | 33882 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:2746 | Opsismodysplasia | HP:0040281 - Very frequent | | | 18 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type | HP:0040281 - Very frequent | | | 141 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | LARP7 CL E G H | 51574 | 24912 | OMIM:615071 | Alazami syndrome | . | | | 16 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | LTBP3 CL E G H | 4054 | 6716 | ORPHA:969 | Acromicric dysplasia | HP:0040281 - Very frequent | | | 12 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | LYSET CL E G H | 26175 | 20218 | OMIM:619345 | DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN | | | | | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:3238 | Cardiospondylocarpofacial syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:301014 | Osteogenesis imperfecta, type XIX | . | | | 22 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | MESP2 CL E G H | 145873 | 29659 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | NIN CL E G H | 51199 | 14906 | OMIM:614851 | Seckel syndrome 7 | . | | | 55 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | NSMCE2 CL E G H | 286053 | 26513 | OMIM:617253 | Seckel syndrome 10 | | | | 2 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | OBSL1 CL E G H | 23363 | 29092 | OMIM:612921 | 3-M syndrome 2 | | | | 143 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 53 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:215100 | Rhizomelic chondrodysplasia punctata, type 1 | . | | | 72 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | HP:0040281 - Very frequent | | | 77 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | . | | | 103 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | . | | | 1129 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | PTCD3 CL E G H | 55037 | 24717 | OMIM:619057 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51 | | | | | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040281 - Very frequent | | | 6 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | . | HP:0003593 - Infantile onset | | 58 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | PYCR1 CL E G H | 5831 | 9721 | ORPHA:2078 | Geroderma osteodysplastica | HP:0040281 - Very frequent | | | 53 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:607095 | Anauxetic dysplasia | | | | 37 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | RPL13 CL E G H | 6137 | 10303 | OMIM:618728 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST | | | | | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040282 - Frequent | | | 113 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:2307 | IVIC syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 304 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 16 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 237 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 129 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | SGMS2 CL E G H | 166929 | 28395 | OMIM:126550 | Calvarial doughnut lesions with bone fragility | HP:0040284 - Very rare | | | | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:2632 | Langer mesomelic dysplasia | HP:0040281 - Very frequent | | | 66 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | SIL1 CL E G H | 64374 | 24624 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040281 - Very frequent | | | 67 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93298 | Achondrogenesis type 1B | HP:0040281 - Very frequent | | | 166 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040281 - Very frequent | | | 504 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | HP:0040282 - Frequent | | | 146 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | STAT5B CL E G H | 6777 | 11367 | OMIM:245590 | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY | | | | 12 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | TBX6 CL E G H | 6911 | 11605 | ORPHA:1797 | Autosomal dominant spondylocostal dysostosis | HP:0040281 - Very frequent | | | 19 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | TBX6 CL E G H | 6911 | 11605 | OMIM:122600 | Spondylocostal dysostosis 5 | . | | | 19 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:93299 | Achondrogenesis type 1A | HP:0040281 - Very frequent | | | 133 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | . | | | 214 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | HP:0040281 - Very frequent | | | 214 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:168400 | Parastremmatic dwarfism | . | | | 214 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | HP:0040282 - Frequent | | | 214 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0003510 | HP:0003510 | Severe short stature | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | 14 | | |