| 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 |
