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:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | ACAN CL E G H | 176 | 319 | ORPHA:171866 | Spondyloepimetaphyseal dysplasia, aggrecan type | | | | 34 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | | | | 34 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | AGPS CL E G H | 8540 | 327 | OMIM:600121 | Rhizomelic chondrodysplasia punctata, type 3 | . | | | 117 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | | | | 68 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | ALPL CL E G H | 249 | 438 | OMIM:241500 | Hypophosphatasia, infantile | . | | | 126 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | | | | 3 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 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:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | . | | | 90 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040281 - Very frequent | | | 90 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | CANT1 CL E G H | 124583 | 19721 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | | | | 7 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | CHST3 CL E G H | 9469 | 1971 | ORPHA:263463 | CHST3-related skeletal dysplasia | | | | 165 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 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:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | | | | 52 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | COL10A1 CL E G H | 1300 | 2185 | ORPHA:174 | Metaphyseal chondrodysplasia, Schmid type | HP:0040282 - Frequent | | | 79 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | | | | 215 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | | | | 215 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166210 | Osteogenesis imperfecta, type IIA | . | | | 373 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:259420 | Osteogenesis imperfecta, type III | . | | | 373 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:166210 | Osteogenesis imperfecta, type IIA | . | | | 243 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:259420 | Osteogenesis imperfecta, type III | . | | | 243 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:200610 | Achondrogenesis, type II | . | | | 284 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | | | | 284 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | HP:0040281 - Very frequent | | | 284 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | | | | 284 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | COMP CL E G H | 1311 | 2227 | OMIM:132400 | Epiphyseal dysplasia, multiple, 1 | . | | | 89 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | COMP CL E G H | 1311 | 2227 | OMIM:177170 | Pseudoachondroplasia | | | | 89 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | HP:0040281 - Very frequent | | | 89 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | CREB3L1 CL E G H | 90993 | 18856 | OMIM:616229 | Osteogenesis imperfecta, type XVI | | | | 4 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | CRTAP CL E G H | 10491 | 2379 | OMIM:610682 | Osteogenesis imperfecta, type VII | | | | 124 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | 304 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 7 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | | | | 51 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 209 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 209 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 137 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 137 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | | | | 172 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2645 | Osteoglosphonic dysplasia | | | | 172 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | | | | 145 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | | | | 145 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | | | | 145 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:429 | Hypochondroplasia | | | | 145 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:146000 | HYPOCHONDROPLASIA | | | | 145 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:1860 | Thanatophoric dysplasia type 1 | | | | 145 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | | | | 145 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187601 | Thanatophoric dysplasia, type II | | | | 145 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:1190 | Atelosteogenesis type I | | | | 233 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | . | | | 233 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108721 | Atelosteogenesis, type III | | | | 233 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:1263 | Boomerang dysplasia | | | | 233 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:93328 | Autosomal dominant omodysplasia | | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | FZD2 CL E G H | 2535 | 4040 | OMIM:164745 | OMODYSPLASIA | | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040281 - Very frequent | | | 52 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | | | | 52 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:968 | Acromesomelic dysplasia, Hunter-Thompson type | | | | 52 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:200700 | Chondrodysplasia, Grebe type | . | | | 52 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:228900 | Fibular hypoplasia and complex brachydactyly | | | | 52 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 1 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | GNPAT CL E G H | 8443 | 4416 | OMIM:222765 | Rhizomelic chondrodysplasia punctata, type 2 | | | | 58 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | GPC6 CL E G H | 10082 | 4454 | ORPHA:93329 | Autosomal recessive omodysplasia | | | | 99 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | GPC6 CL E G H | 10082 | 4454 | OMIM:258315 | Omodysplasia 1 | . | | | 99 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | | | | 3 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | | | | 3 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | GSC CL E G H | 145258 | 4612 | OMIM:602471 | Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities | | | | 3 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | HDAC6 CL E G H | 10013 | 14064 | OMIM:300863 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | | | | 2 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | HDAC6 CL E G H | 10013 | 14064 | ORPHA:163966 | X-linked dominant chondrodysplasia, Chassaing-Lacombe type | | | | 2 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:224410 | Dyssegmental dysplasia, Silverman-Handmaker type | . | | | 345 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | | | | 93 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 11 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 4 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | IFT80 CL E G H | 57560 | 29262 | OMIM:611263 | Asphyxiating thoracic dystrophy 2 | | | | 65 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | 65 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | . | | | 44 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | . | | | 18 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040281 - Very frequent | | | 18 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | KDELR2 CL E G H | 11014 | 6305 | OMIM:619131 | OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21 | | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619479 | SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21 | | | | 4 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | | | | 5 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | LBR CL E G H | 3930 | 6518 | ORPHA:1426 | Greenberg dysplasia | | | | 70 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | MAB21L2 CL E G H | 10586 | 6758 | OMIM:615877 | Microphthalmia/coloboma and skeletal dysplasia syndrome | | | | 5 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | MATN3 CL E G H | 4148 | 6909 | OMIM:608728 | Spondyloepimetaphyseal dysplasia, matrilin-3 related | . | | | 32 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | MATN3 CL E G H | 4148 | 6909 | ORPHA:156728 | Spondyloepimetaphyseal dysplasia, matrilin-3 type | HP:0040282 - Frequent | | | 32 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:301014 | Osteogenesis imperfecta, type XIX | | | | 22 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | MESD CL E G H | 23184 | 13520 | OMIM:618644 | OSTEOGENESIS IMPERFECTA, TYPE XX; OI20 | | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | MIR140 CL E G H | 406932 | 31527 | OMIM:618618 | SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN | | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | MMP13 CL E G H | 4322 | 7159 | OMIM:602111 | Spondyloepimetaphyseal dysplasia, Missouri type | | | | 52 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | | | | 68 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | MYSM1 CL E G H | 114803 | 29401 | OMIM:618116 | Bone marrow failure syndrome 4 | | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | NSMCE2 CL E G H | 286053 | 26513 | ORPHA:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | | | | 2 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | P3H1 CL E G H | 64175 | 19316 | OMIM:610915 | Osteogenesis imperfecta, type VIII | . | | | 43 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | | | | 11 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | | | | 11 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:215100 | Rhizomelic chondrodysplasia punctata, type 1 | | | | 72 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | PKDCC CL E G H | 91461 | 25123 | OMIM:618821 | RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF | | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | | | | 10 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | PPIB CL E G H | 5479 | 9255 | OMIM:259440 | Osteogenesis imperfecta, type IX | . | | | 39 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 2 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 2 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | . | | | 134 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619638 | SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP | | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | | | | 58 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:607095 | Anauxetic dysplasia | | | | 37 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040281 - Very frequent | | | 120 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:2632 | Langer mesomelic dysplasia | HP:0040281 - Very frequent | | | 66 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | SHOX CL E G H | 6473 | 10853 | OMIM:249700 | Langer mesomelic dysplasia | | | | 66 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | HP:0040281 - Very frequent | | | 66 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | SHOX CL E G H | 6473 | 10853 | OMIM:127300 | Leri-Weill dyschondrosteosis | | | | 66 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | SIK3 CL E G H | 23387 | 29165 | OMIM:618162 | Spondyloepimetaphyseal dysplasia, Krakow type | | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:600972 | Achondrogenesis, type IB | | | | 166 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | | | | 166 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | . | | | 166 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | | | | 166 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | SLC35D1 CL E G H | 23169 | 20800 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040281 - Very frequent | | | 9 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | . | | | 9 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | HP:0040283 - Occasional | | | 11 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | HP:0003577 - Congenital onset | | 109 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | | | | 5 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040281 - Very frequent | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | | | | 133 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 95 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | | | | 95 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | | | | 136 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | | | | 136 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | HP:0040281 - Very frequent | | | 136 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | | | | 9 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0008873 | HP:0008873 | Disproportionate short-limb short stature | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | ACAN CL E G H | 176 | 319 | ORPHA:171866 | Spondyloepimetaphyseal dysplasia, aggrecan type | HP:0040281 - Very frequent | | | 34 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | | | | 34 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | AGPS CL E G H | 8540 | 327 | OMIM:600121 | Rhizomelic chondrodysplasia punctata, type 3 | . | | | 117 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | . | | | 68 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | . | | | 3 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | 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:0008873 | HP:0008905 | Rhizomelia | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | . | | | 7 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | . | | | | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | CHST3 CL E G H | 9469 | 1971 | ORPHA:263463 | CHST3-related skeletal dysplasia | HP:0040281 - Very frequent | | | 165 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | 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:0008873 | HP:0008905 | Rhizomelia | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040282 - Frequent | | | 52 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | 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:0008873 | HP:0008905 | Rhizomelia | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | COL1A1 CL E G H | 1277 | 2197 | OMIM:259420 | Osteogenesis imperfecta, type III | . | | | 373 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | COL1A2 CL E G H | 1278 | 2198 | OMIM:259420 | Osteogenesis imperfecta, type III | . | | | 243 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | | | | 284 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | . | | | 284 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | | | | 284 | | |
HP:0008873 | HP:0011405 | Childhood onset short-limb short stature | 1 | COMP CL E G H | 1311 | 2227 | OMIM:177170 | Pseudoachondroplasia | . | | | 89 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | CREB3L1 CL E G H | 90993 | 18856 | OMIM:616229 | Osteogenesis imperfecta, type XVI | . | | | 4 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | CRTAP CL E G H | 10491 | 2379 | OMIM:610682 | Osteogenesis imperfecta, type VII | . | | | 124 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040282 - Frequent | | | 65 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | | | | 51 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 209 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 209 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 137 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 137 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | . | | | 172 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2645 | Osteoglosphonic dysplasia | HP:0040282 - Frequent | | | 172 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | . | | | 145 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | . | | | 145 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | HP:0040283 - Occasional | | | 145 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:616482 | Achondroplasia, severe, with developmental delay and acanthosis nigricans | . | | | 145 | | |
HP:0008873 | HP:0011405 | Childhood onset short-limb short stature | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:146000 | HYPOCHONDROPLASIA | . | | | 145 | | |
HP:0008873 | HP:0011405 | Childhood onset short-limb short stature | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:429 | Hypochondroplasia | HP:0040281 - Very frequent | | | 145 | | |
HP:0008873 | HP:0008909 | Lethal short-limbed short stature | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:1860 | Thanatophoric dysplasia type 1 | HP:0040281 - Very frequent | | | 145 | | |
HP:0008873 | HP:0008909 | Lethal short-limbed short stature | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | . | | | 145 | | |
HP:0008873 | HP:0008909 | Lethal short-limbed short stature | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187601 | Thanatophoric dysplasia, type II | . | | | 145 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | FLNB CL E G H | 2317 | 3755 | ORPHA:1190 | Atelosteogenesis type I | HP:0040282 - Frequent | | | 233 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | . | | | 233 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:108721 | Atelosteogenesis, type III | . | | | 233 | | |
HP:0008873 | HP:0008890 | Severe short-limb dwarfism | 1 | FLNB CL E G H | 2317 | 3755 | ORPHA:1263 | Boomerang dysplasia | HP:0040281 - Very frequent | | | 233 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:93328 | Autosomal dominant omodysplasia | HP:0040281 - Very frequent | | | | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | FZD2 CL E G H | 2535 | 4040 | OMIM:164745 | OMODYSPLASIA | | | | | | |
HP:0008873 | HP:0008890 | Severe short-limb dwarfism | 1 | GDF5 CL E G H | 8200 | 4220 | ORPHA:968 | Acromesomelic dysplasia, Hunter-Thompson type | HP:0040281 - Very frequent | | | 52 | | |
HP:0008873 | HP:0008890 | Severe short-limb dwarfism | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | . | | | 52 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:228900 | Fibular hypoplasia and complex brachydactyly | | | | 52 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | GNPAT CL E G H | 8443 | 4416 | OMIM:222765 | Rhizomelic chondrodysplasia punctata, type 2 | . | | | 58 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | GPC6 CL E G H | 10082 | 4454 | ORPHA:93329 | Autosomal recessive omodysplasia | HP:0040281 - Very frequent | | | 99 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | GPC6 CL E G H | 10082 | 4454 | OMIM:258315 | Omodysplasia 1 | . | | | 99 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | | | | 3 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | . | | | 3 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | GSC CL E G H | 145258 | 4612 | OMIM:602471 | Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities | . | | | 3 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | HDAC6 CL E G H | 10013 | 14064 | OMIM:300863 | Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia | . | | | 2 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | HDAC6 CL E G H | 10013 | 14064 | ORPHA:163966 | X-linked dominant chondrodysplasia, Chassaing-Lacombe type | HP:0040281 - Very frequent | | | 2 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | IFT122 CL E G H | 55764 | 13556 | OMIM:218330 | Cranioectodermal dysplasia | . | | | 93 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | IFT122 CL E G H | 55764 | 13556 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 93 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | IFT43 CL E G H | 112752 | 29669 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 11 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | IFT52 CL E G H | 51098 | 15901 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 4 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | IFT80 CL E G H | 57560 | 29262 | OMIM:611263 | Asphyxiating thoracic dystrophy 2 | . | | | 65 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | . | | | 18 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | KYNU CL E G H | 8942 | 6469 | OMIM:617661 | Vertebral, cardiac, renal, and limb defects syndrome 2 | . | | | 5 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | . | | | 70 | | |
HP:0008873 | HP:0008890 | Severe short-limb dwarfism | 1 | LBR CL E G H | 3930 | 6518 | ORPHA:1426 | Greenberg dysplasia | HP:0040281 - Very frequent | | | 70 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | LBR CL E G H | 3930 | 6518 | ORPHA:1426 | Greenberg dysplasia | HP:0040281 - Very frequent | | | 70 | | |
HP:0008873 | HP:0008890 | Severe short-limb dwarfism | 1 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | MAB21L2 CL E G H | 10586 | 6758 | OMIM:615877 | Microphthalmia/coloboma and skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:301014 | Osteogenesis imperfecta, type XIX | . | | | 22 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | MMP13 CL E G H | 4322 | 7159 | OMIM:602111 | Spondyloepimetaphyseal dysplasia, Missouri type | . | | | 52 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | MTOR CL E G H | 2475 | 3942 | OMIM:616638 | Smith-Kingsmore syndrome | . | | | 68 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | MYSM1 CL E G H | 114803 | 29401 | OMIM:618116 | Bone marrow failure syndrome 4 | . | | | | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | | | | | | |
HP:0008873 | HP:0008890 | Severe short-limb dwarfism | 1 | NSMCE2 CL E G H | 286053 | 26513 | ORPHA:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | . | | | 11 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | PEX7 CL E G H | 5191 | 8860 | OMIM:215100 | Rhizomelic chondrodysplasia punctata, type 1 | . | | | 72 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | PKDCC CL E G H | 91461 | 25123 | OMIM:618821 | RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF | | | | | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | | | | 10 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619638 | SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP | | | | | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | HP:0040281 - Very frequent | | | 58 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | PTH1R CL E G H | 5745 | 9608 | ORPHA:50945 | Blomstrand lethal chondrodysplasia | HP:0040281 - Very frequent | | | 58 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:607095 | Anauxetic dysplasia | . | | | 37 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0008873 | HP:0008845 | Mesomelic short stature | 1 | SHOX CL E G H | 6473 | 10853 | OMIM:249700 | Langer mesomelic dysplasia | . | | | 66 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | SHOX CL E G H | 6473 | 10853 | ORPHA:2632 | Langer mesomelic dysplasia | | | | 66 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | SIK3 CL E G H | 23387 | 29165 | OMIM:618162 | Spondyloepimetaphyseal dysplasia, Krakow type | . | | | | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:600972 | Achondrogenesis, type IB | . | | | 166 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040282 - Frequent | | | 166 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | . | | | 166 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | HP:0040281 - Very frequent | | | 166 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040283 - Occasional | | | 166 | | |
HP:0008873 | HP:0008921 | Neonatal short-limb short stature | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | . | | | 5 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040282 - Frequent | | | | | |
HP:0008873 | HP:0008845 | Mesomelic short stature | 1 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | | | | 133 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | WDR19 CL E G H | 57728 | 18340 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 95 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | . | | | 95 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | WDR35 CL E G H | 57539 | 29250 | ORPHA:1515 | Cranioectodermal dysplasia | HP:0040281 - Very frequent | | | 136 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0008873 | HP:0008905 | Rhizomelia | 1 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0008873 | HP:0008890 | Severe short-limb dwarfism | 1 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0008873 | HP:0005069 | Rhizo-meso-acromelic limb shortening | 2 | CL E G H | | | | | | | | | | |
HP:0008873 | HP:0005026 | Mesomelic/rhizomelic limb shortening | 2 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0008873 | HP:0012106 | Rhizomelic leg shortening | 2 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0008873 | HP:0004991 | Rhizomelic arm shortening | 2 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0008873 | HP:0004991 | Rhizomelic arm shortening | 2 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0008873 | HP:0004991 | Rhizomelic arm shortening | 2 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | | | | 175 | | |
HP:0008873 | HP:0004991 | Rhizomelic arm shortening | 2 | FZD2 CL E G H | 2535 | 4040 | OMIM:164745 | OMODYSPLASIA | . | | | | | |
HP:0008873 | HP:0004991 | Rhizomelic arm shortening | 2 | GPX4 CL E G H | 2879 | 4556 | ORPHA:93317 | Spondylometaphyseal dysplasia, Sedaghatian type | HP:0040281 - Very frequent | | | 3 | | |
HP:0008873 | HP:0012106 | Rhizomelic leg shortening | 2 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0008873 | HP:0004991 | Rhizomelic arm shortening | 2 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0008873 | HP:0004991 | Rhizomelic arm shortening | 2 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | | | |
HP:0008873 | HP:0005026 | Mesomelic/rhizomelic limb shortening | 2 | SHOX CL E G H | 6473 | 10853 | ORPHA:2632 | Langer mesomelic dysplasia | HP:0040281 - Very frequent | | | 66 | | |
HP:0008873 | HP:0004991 | Rhizomelic arm shortening | 2 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040282 - Frequent | | | 166 | | |