| Description | OMIM Number |
| ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM | 100100 |
| ACHONDROGENESIS, TYPE IA; ACG1A | 200600 |
| ACHONDROGENESIS, TYPE II; ACG2 | 200610 |
| ACHONDROPLASIA; ACH | 100800 |
| ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE DEFICIENCY | 600121 |
| ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE | 106260 |
| APERT SYNDROME | 101200 |
| ATRIOVENTRICULAR SEPTAL DEFECT; AVSD | 600309 |
| BULBAR PALSY, PROGRESSIVE, WITH PERCEPTIVE DEAFNESS | 211530 |
| CAMPOMELIC DYSPLASIA | 114290 |
| CARTILAGE-HAIR HYPOPLASIA; CHH | 250250 |
| CENTRAL CORE DISEASE OF MUSCLE | 117000 |
| CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 | 214150 |
| CHERUBISM | 118400 |
| CHONDRODYSPLASIA, GREBE TYPE | 200700 |
| CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME; CLPED1 | 225060 |
| CLEFT PALATE ISOLATED; CPI | 119540 |
| CLEIDOCRANIAL DYSPLASIA; CCD | 119600 |
| COCKAYNE SYNDROME TYPE A; CSA | 216400 |
| COCKAYNE SYNDROME TYPE B; CSB | 133540 |
| COCKAYNE SYNDROME, TYPE III | 216411 |
| CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA | 121050 |
| CORNELIA DE LANGE SYNDROME 1; CDLS1 | 122470 |
| CUTIS LAXA | 219100 |
| DYGGVE-MELCHIOR-CLAUSEN DISEASE | 223800 |
| DYSCHONDROSTEOSIS | 127300 |
| DYSTONIA 1, TORSION; DYT1 | 128100 |
| DYSTONIA MUSCULORUM DEFORMANS 2; DYT2 | 224500 |
| DYSTROPHIA MYOTONICA 1 | 160900 |
| ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ED1 | 305100 |
| ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 | 129900 |
| EHLERS-DANLOS SYNDROME CLASSIC TYPE | 130000 |
| EHLERS-DANLOS SYNDROME TYPE III | 130020 |
| EHLERS-DANLOS SYNDROME, TYPE II; EDS2 | 130010 |
| EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT | 130050 |
| EHLERS-DANLOS SYNDROME, TYPE VI | 225400 |
| EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE | 225410 |
| ELLIS-VAN CREVELD SYNDROME; EVC | 225500 |
| EMERY-DREIFUSS MUSCULAR DYSTROPHY 1; EDMD1 | 310300 |
| ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY; EAD | 603034 |
| EPIDERMOLYSIS BULLOSA LETALIS | 226700 |
| EXOSTOSES, MULTIPLE, TYPE I; EXT1 | 133700 |
| FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP | 135100 |
| FRONTONASAL DYSPLASIA | 136760 |
| GLYCOGEN STORAGE DISEASE VIII (GLYCOGEN STORAGE DISEASE IX, INCLUDED) | 306000 |
| GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS | 175700 |
| HOLT-ORAM SYNDROME; HOS | 142900 |
| HYPOCHONDROPLASIA; HCH | 146000 |
| HYPOPHOSPHATASIA, CHILDHOOD | 241510 |
| HYPOPHOSPHATASIA, INFANTILE | 241500 |
| HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT | 307800 |
| ICHTHYOSIFORM ERYTHRODERMA, BROCQ CONGENITAL, NONBULLOUS FORM | 242100 |
| ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE | 242500 |
| INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA; IBMPFD | 167320 |
| INCONTINENTIA PIGMENTI; IP | 308300 |
| JACKSON-WEISS SYNDROME; JWS | 123150 |
| KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT | 118100 |
| KNIEST DYSPLASIA | 156550 |
| LANGER MESOMELIC DYSPLASIA | 249700 |
| LANGER-GIEDION SYNDROME; LGS | 150230 |
| LEPRECHAUNISM | 246200 |
| LIG4 SYNDROME | 606593 |
| MARFAN SYNDROME; MFS | 154700 |
| METAPHYSEAL DYSPLASIA, ANETODERMA, AND OPTIC ATROPHY | 250450 |
| MOEBIUS SYNDROME; MBS | 157900 |
| MUSCULAR DYSTROPHY BECKER TYPE; BMD | 300376 |
| MUSCULAR DYSTROPHY DUCHENNE TYPE; DMD | 310200 |
| MUSCULAR DYSTROPHY LIMB-GIRDLE TYPE 2A; LGMD2A | 253600 |
| MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA | 255140 |
| MYOTUBULAR MYOPATHY 1; MTM1 | 310400 |
| NEMALINE MYOPATHY 5; NEM5 | 605355 |
| OROFACIAL CLEFT 1; OFC1 | 119530 |
| OSTEOCHONDRODYSPLASIA, RHIZOMELIC, WITH CALLOSAL AGENESIS, THROMBOCYTOPENIA, HYDROCEPHALUS, AND HYPERTENSION | 166990 |
| OSTEOGENESIS IMPERFECTA, TYPE I | 166200 |
| OSTEOGENESIS IMPERFECTA, TYPE IV; OI4 | 166220 |
| OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS | 259730 |
| PARANA HARD-SKIN SYNDROME | 260530 |
| PETERS-PLUS SYNDROME | 261540 |
| POLYDACTYLY WITH NEONATAL CHONDRODYSTROPHY, TYPE II | 263520 |
| POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE | 263650 |
| PROTEUS SYNDROME | 176920 |
| PSEUDOACHONDROPLASTIC DYSPLASIA | 177170 |
| PSEUDOTRISOMY 13 SYNDROME | 264480 |
| RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 | 215100 |
| RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2 | 222765 |
| SC PHOCOMELIA SYNDROME | 269000 |
| SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME | 269150 |
| SCHWARTZ-JAMPEL SYNDROME; SJS | 255800 |
| SECKEL SYNDROME | 210600 |
| SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | 182212 |
| SIMPSON DYSMORPHIA SYNDROME; SDYS | 312870 |
| SPINAL AND BULBAR MUSCULAR ATROPHY X-LINKED 1; SMAX1 | 313200 |
| SPINAL MUSCULAR ATROPHY I; SMA1 | 253300 |
| SPINAL MUSCULAR ATROPHY II; SMA II | 253550 |
| SPONDYLOEPIMETAPHYSEAL DYSPLASIA SPONASTRIME TYPE | 271510 |
| SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS | 603546 |
| SPONDYLOPERIPHERAL DYSPLASIA | 271700 |
| THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL | 187601 |
| THANATOPHORIC DYSPLASIA; TD | 187600 |
| TORG-WINCHESTER SYNDROME | 259600 |
| TRICHOTHIODYSTROPHY; TTD ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION, INCLUDED | 601675 |
| VARADI-PAPP SYNDROME | 277170 |
| VERTEBRAL ANOMALIES | 277300 |
| WEAVER SYNDROME | 277590 |
| WILLIAMS-BEUREN SYNDROME; WBS | 194050 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC | 278720 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | 278730 |
