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:0002803 | HP:0002803 | Congenital contracture | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 245 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | | | | 197 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 96 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 96 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | | | | 96 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 96 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | | | | 96 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ADCY6 CL E G H | 112 | 237 | OMIM:616287 | Lethal congenital contracture syndrome 8 | | | | 2 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 88 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | . | | | 5 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | AIMP1 CL E G H | 9255 | 10648 | OMIM:260600 | Leukodystrophy, hypomyelinating, 3 | | | | 4 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | | | | 37 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | | | | 37 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ASCC1 CL E G H | 51008 | 24268 | OMIM:616867 | Spinal muscular atrophy with congenital bone fractures 2 | | | | 2 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | HP:0040283 - Occasional | | | 61 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | | | | 61 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | BICD2 CL E G H | 23299 | 17208 | ORPHA:363454 | BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy | | | | 46 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:618291 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | | | | 46 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CACNA1E CL E G H | 777 | 1392 | OMIM:618285 | Developmental and epileptic encephalopathy 69 | | | | 11 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | | | | 323 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CDK5 CL E G H | 1020 | 1774 | OMIM:616342 | Lissencephaly 7 with cerebellar hypoplasia | | | | 3 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | | | | 35 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | | | | 65 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | | | | 19 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | | | | 74 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 139 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | | | | 68 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | | | | 27 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 27 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:616286 | Lethal congenital contracture syndrome 7 | | | | 9 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:618186 | Neuropathy, congenital hypomyelinating, 3 | | | | 9 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:615368 | Lethal congenital contracture syndrome 5 | . | | | 167 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 91 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | DPM2 CL E G H | 8818 | 3006 | OMIM:615042 | Congenital disorder of glycosylation, type Iu | . | | | 26 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 13 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:607598 | Lethal congenital contracture syndrome 2 | | | | 12 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:243180 | Visceral neuropathy, familial, autosomal recessive | | | | 12 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ERCC1 CL E G H | 2067 | 3433 | OMIM:610758 | Cerebrooculofacioskeletal syndrome 4 | | | | 20 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | | | | 20 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | | | | 106 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ERCC5 CL E G H | 2073 | 3437 | OMIM:616570 | Cerebrooculofacioskeletal syndrome 3 | | | | 83 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | | | | 83 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | | | | 199 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ERGIC1 CL E G H | 57222 | 29205 | OMIM:208100 | Arthrogryposis multiplex congenita, Neurogenic type | . | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | EXOC7 CL E G H | 23265 | 23214 | OMIM:619072 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | | | | 35 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | FBN2 CL E G H | 2201 | 3604 | ORPHA:115 | Congenital contractural arachnodactyly | HP:0040281 - Very frequent | | | 655 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | | | | 655 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | | | | 111 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | FKBP10 CL E G H | 60681 | 18169 | ORPHA:2771 | Bruck syndrome | | | | 61 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | | | | 86 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 237 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | | | | 43 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | GFM2 CL E G H | 84340 | 29682 | OMIM:618397 | Combined oxidative phosphorylation deficiency 39 | | | | 43 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 128 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | | | | 45 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:253310 | Lethal congenital contracture syndrome 1 | | | | 45 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | | | | 16 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 62 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ITGB4 CL E G H | 3691 | 6158 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | | | | 124 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | | | | 141 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 80 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 127 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | | | | 4 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:619501 | VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG | | | | 4 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | KIF14 CL E G H | 9928 | 19181 | OMIM:616258 | Meckel syndrome 12 | | | | 9 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | | | | 276 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | KIF5C CL E G H | 3800 | 6325 | OMIM:615282 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2 | | | | 18 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | KLHL40 CL E G H | 131377 | 30372 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 28 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 13 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 13 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | KLHL41 CL E G H | 10324 | 16905 | OMIM:615731 | Nemaline myopathy 9 | | | | 13 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 13 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | | | | 13 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | LGI4 CL E G H | 163175 | 18712 | OMIM:617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | | | | 6 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | | | | 645 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | LMOD3 CL E G H | 56203 | 6649 | OMIM:616165 | Nemaline myopathy 10 | | | | 11 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 11 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | | | | 11 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | | | | 74 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:614335 | Arthrogryposis, distal, type 1B | | | | 66 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:614915 | Lethal congenital contracture syndrome 4 | | | | 66 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MYH2 CL E G H | 4620 | 7572 | OMIM:605637 | Myopathy, proximal, and ophthalmoplegia | . | | | 105 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | | | | 166 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:178110 | Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A | | | | 166 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MYH8 CL E G H | 4626 | 7578 | OMIM:158300 | Arthrogryposis, distal, type 7 | | | | 93 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MYH8 CL E G H | 4626 | 7578 | OMIM:608837 | CARNEY COMPLEX VARIANT | | | | 93 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MYO9A CL E G H | 4649 | 7608 | OMIM:618198 | Myasthenic syndrome, congenital, 24, presynaptic | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 217 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | . | | | 48 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | NEB CL E G H | 4703 | 7720 | OMIM:619334 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6 | | | | 745 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 745 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 745 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | . | | | 745 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 745 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | | | | 745 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:614262 | Arthrogryposis, perthes disease, and upward gaze palsy | | | | 9 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | NUP88 CL E G H | 4927 | 8067 | OMIM:618393 | Fetal akinesia deformation sequence 4 | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | PAX7 CL E G H | 5081 | 8621 | OMIM:618578 | MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 30 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 11 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | | | | 11 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | | | | 77 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | | | | 77 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | | | | 77 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | . | | | 77 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | | | | 77 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | PIP5K1C CL E G H | 23396 | 8996 | OMIM:611369 | Lethal congenital contracture syndrome 3 | | | | 1 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | | | | 759 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | PLOD2 CL E G H | 5352 | 9082 | ORPHA:2771 | Bruck syndrome | | | | 45 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | . | | | 221 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | PPP3CA CL E G H | 5530 | 9314 | OMIM:618265 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | | | | 2 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | PRG4 CL E G H | 10216 | 9364 | OMIM:208250 | Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome | | | | 6 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 73 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | | | | 73 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | | | | 3 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | RFT1 CL E G H | 91869 | 30220 | ORPHA:244310 | RFT1-CDG | | | | 92 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SHPK CL E G H | 23729 | 1492 | ORPHA:440713 | Isolated sedoheptulokinase deficiency | | | | 2 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 2 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SLC35A3 CL E G H | 23443 | 11023 | OMIM:615553 | Arthrogryposis, mental retardation, and seizures | | | | 2 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:617143 | Myasthenic syndrome, congenital, 20, presynaptic | | | | 9 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | | | | 4 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | | | | 93 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | | | | 61 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 50 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | STAC3 CL E G H | 246329 | 28423 | ORPHA:168572 | Native American myopathy | HP:0040282 - Frequent | | | 14 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | | | | 110 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | | | | 1129 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | | | | 16 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TNNI2 CL E G H | 7136 | 11946 | OMIM:601680 | Arthrogryposis, distal, type 2B | | | | 37 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | | | | 54 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 54 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | | | | 54 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 108 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 108 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TRIP13 CL E G H | 9319 | 12307 | OMIM:617598 | Mosaic variegated aneuploidy syndrome 3 | | | | 2 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | | | | 214 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:166063 | Pontocerebellar hypoplasia type 4 | | | | 102 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:225753 | Pontocerebellar hypoplasia, type 4 | . | | | 102 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 106 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | | | | 35 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | | | | 35 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | | | | 27 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | | | | 63 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | . | | | 32 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | | | | 7 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | YY1 CL E G H | 7528 | 12856 | OMIM:617557 | Gabriele-De vries syndrome | | | | 7 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ZBTB42 CL E G H | 100128927 | 32550 | OMIM:616248 | Lethal congenital contracture syndrome 6 | . | | | 1 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ZC4H2 CL E G H | 55906 | 24931 | ORPHA:3454 | Intellectual disability-developmental delay-contractures syndrome | | | | 19 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | | | | 19 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | | | | 83 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ZNF335 CL E G H | 63925 | 15807 | OMIM:615095 | Microcephaly 10, primary, autosomal recessive | | | | 60 | | |
HP:0002803 | HP:0002803 | Congenital contracture | 0 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | | | | 1 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 245 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 197 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040284 - Very rare | | | 96 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040284 - Very rare | | | 96 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | . | | | 96 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0002803 | HP:0005879 | Congenital finger flexion contractures | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040284 - Very rare | | | 9 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ADCY6 CL E G H | 112 | 237 | OMIM:616287 | Lethal congenital contracture syndrome 8 | . | | | 2 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040282 - Frequent | | | 88 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | AIMP1 CL E G H | 9255 | 10648 | OMIM:260600 | Leukodystrophy, hypomyelinating, 3 | . | | | 4 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040284 - Very rare | | | 37 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ASCC1 CL E G H | 51008 | 24268 | OMIM:616867 | Spinal muscular atrophy with congenital bone fractures 2 | | | | 2 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | . | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | HP:0040283 - Occasional | | | 61 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | . | | | 61 | | |
HP:0002803 | HP:0005853 | Congenital foot contraction deformities | 1 | BICD2 CL E G H | 23299 | 17208 | ORPHA:363454 | BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy | HP:0040282 - Frequent | | | 46 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | BICD2 CL E G H | 23299 | 17208 | OMIM:618291 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | . | | | 46 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | BLTP1 CL E G H | 84162 | 26953 | OMIM:617822 | Alkuraya-Kucinskas syndrome | . | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | CACNA1E CL E G H | 777 | 1392 | OMIM:618285 | Developmental and epileptic encephalopathy 69 | | | | 11 | | |
HP:0002803 | HP:0005879 | Congenital finger flexion contractures | 1 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | HP:0040282 - Frequent | | | 323 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | CDK5 CL E G H | 1020 | 1774 | OMIM:616342 | Lissencephaly 7 with cerebellar hypoplasia | . | | | 3 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | . | | | 65 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 65 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | HP:0040283 - Occasional | | | 19 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | . | | | 74 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | CHRNG CL E G H | 1146 | 1967 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | | | | 27 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 27 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:616286 | Lethal congenital contracture syndrome 7 | . | | | 9 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:618186 | Neuropathy, congenital hypomyelinating, 3 | HP:0040284 - Very rare | | | 9 | | |
HP:0002803 | HP:0005879 | Congenital finger flexion contractures | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | . | | | 72 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 91 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ERBB3 CL E G H | 2065 | 3431 | OMIM:607598 | Lethal congenital contracture syndrome 2 | . | | | 12 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ERBB3 CL E G H | 2065 | 3431 | OMIM:243180 | Visceral neuropathy, familial, autosomal recessive | | | | 12 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ERCC1 CL E G H | 2067 | 3433 | OMIM:610758 | Cerebrooculofacioskeletal syndrome 4 | . | | | 20 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ERCC5 CL E G H | 2073 | 3437 | OMIM:616570 | Cerebrooculofacioskeletal syndrome 3 | . | | | 83 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | . | | | 199 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ERGIC1 CL E G H | 57222 | 29205 | OMIM:208100 | Arthrogryposis multiplex congenita, Neurogenic type | . | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | EXOC7 CL E G H | 23265 | 23214 | OMIM:619072 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA | | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | FBN2 CL E G H | 2201 | 3604 | ORPHA:115 | Congenital contractural arachnodactyly | HP:0040281 - Very frequent | | | 655 | | |
HP:0002803 | HP:0005879 | Congenital finger flexion contractures | 1 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | | | | 655 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | . | | | 655 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | | | | 111 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | FKBP10 CL E G H | 60681 | 18169 | ORPHA:2771 | Bruck syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | HP:0040281 - Very frequent | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | . | | | 86 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 237 | | |
HP:0002803 | HP:0005745 | Congenital foot contractures | 1 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | HP:0040283 - Occasional | | | 43 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | GFM2 CL E G H | 84340 | 29682 | OMIM:618397 | Combined oxidative phosphorylation deficiency 39 | HP:0040284 - Very rare | | | 43 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | . | | | 45 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | GLE1 CL E G H | 2733 | 4315 | OMIM:253310 | Lethal congenital contracture syndrome 1 | . | | | 45 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040284 - Very rare | | | 270 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | . | | | 16 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 62 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ITGB4 CL E G H | 3691 | 6158 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | . | | | 124 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | KAT6B CL E G H | 23522 | 17582 | ORPHA:85201 | Genitopatellar syndrome | HP:0040281 - Very frequent | | | 141 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040284 - Very rare | | | 80 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 127 | | |
HP:0002803 | HP:0005879 | Congenital finger flexion contractures | 1 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040283 - Occasional | | | 4 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:619501 | VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG | | | | 4 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | KIF14 CL E G H | 9928 | 19181 | OMIM:616258 | Meckel syndrome 12 | . | | | 9 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | HP:0040283 - Occasional | | | 276 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | KIF5C CL E G H | 3800 | 6325 | OMIM:615282 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2 | | | | 18 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | KLHL40 CL E G H | 131377 | 30372 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 28 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040284 - Very rare | | | 13 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040284 - Very rare | | | 13 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | KLHL41 CL E G H | 10324 | 16905 | OMIM:615731 | Nemaline myopathy 9 | HP:0040283 - Occasional | | | 13 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | LGI4 CL E G H | 163175 | 18712 | OMIM:617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | . | | | 6 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | LGI4 CL E G H | 163175 | 18712 | OMIM:617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | . | | | 6 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | LMOD3 CL E G H | 56203 | 6649 | OMIM:616165 | Nemaline myopathy 10 | . | | | 11 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | HP:0040284 - Very rare | | | 63 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | | | | 74 | | |
HP:0002803 | HP:0005879 | Congenital finger flexion contractures | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040283 - Occasional | | | 8 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | HP:0040283 - Occasional | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | . | | | 72 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 72 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:614335 | Arthrogryposis, distal, type 1B | . | | | 66 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:614335 | Arthrogryposis, distal, type 1B | HP:0040280 - Obligate | | | 66 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:614915 | Lethal congenital contracture syndrome 4 | . | | | 66 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2990 | Autosomal recessive multiple pterygium syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | MYH3 CL E G H | 4621 | 7573 | OMIM:178110 | Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A | . | | | 166 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | MYH8 CL E G H | 4626 | 7578 | OMIM:158300 | Arthrogryposis, distal, type 7 | . | | | 93 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | MYH8 CL E G H | 4626 | 7578 | OMIM:158300 | Arthrogryposis, distal, type 7 | . | | | 93 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | MYH8 CL E G H | 4626 | 7578 | OMIM:608837 | CARNEY COMPLEX VARIANT | | | | 93 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | MYO9A CL E G H | 4649 | 7608 | OMIM:618198 | Myasthenic syndrome, congenital, 24, presynaptic | | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040284 - Very rare | | | 217 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | NEB CL E G H | 4703 | 7720 | OMIM:619334 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6 | | | | 745 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040284 - Very rare | | | 745 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040284 - Very rare | | | 745 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | . | | | 745 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | NEK9 CL E G H | 91754 | 18591 | OMIM:614262 | Arthrogryposis, perthes disease, and upward gaze palsy | . | | | 9 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | NUP88 CL E G H | 4927 | 8067 | OMIM:618393 | Fetal akinesia deformation sequence 4 | . | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 30 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040282 - Frequent | | | 11 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | . | | | 11 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | . | | | 77 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | . | | | 77 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | . | | | 77 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | . | | | 77 | | |
HP:0002803 | HP:0005879 | Congenital finger flexion contractures | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | . | | | 77 | | |
HP:0002803 | HP:0005879 | Congenital finger flexion contractures | 1 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | HP:0040282 - Frequent | | | 77 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | HP:0040281 - Very frequent | | | 77 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | PIP5K1C CL E G H | 23396 | 8996 | OMIM:611369 | Lethal congenital contracture syndrome 3 | | | | 1 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | PLEC CL E G H | 5339 | 9069 | OMIM:226730 | Epidermolysis bullosa, junctional, with pyloric atresia | . | | | 759 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | PLOD2 CL E G H | 5352 | 9082 | ORPHA:2771 | Bruck syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | PPP3CA CL E G H | 5530 | 9314 | OMIM:618265 | Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | . | | | 2 | | |
HP:0002803 | HP:0005879 | Congenital finger flexion contractures | 1 | PRG4 CL E G H | 10216 | 9364 | OMIM:208250 | Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome | . | | | 6 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 73 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | HP:0040283 - Occasional | | | 73 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | RFT1 CL E G H | 91869 | 30220 | ORPHA:244310 | RFT1-CDG | HP:0040281 - Very frequent | | | 92 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SHPK CL E G H | 23729 | 1492 | ORPHA:440713 | Isolated sedoheptulokinase deficiency | HP:0040280 - Obligate | | | 2 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 2 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 28 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SLC35A3 CL E G H | 23443 | 11023 | OMIM:615553 | Arthrogryposis, mental retardation, and seizures | . | | | 2 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:617143 | Myasthenic syndrome, congenital, 20, presynaptic | HP:0040283 - Occasional | | | 9 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 9 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | | | | 4 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040283 - Occasional | | | 93 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:163746 | Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease | HP:0040283 - Occasional | | | 61 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040282 - Frequent | | | 50 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | STAC3 CL E G H | 246329 | 28423 | ORPHA:168572 | Native American myopathy | HP:0040282 - Frequent | | | 14 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 110 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | . | | | 1129 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 4 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0002803 | HP:0005879 | Congenital finger flexion contractures | 1 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | TNNI2 CL E G H | 7136 | 11946 | OMIM:601680 | Arthrogryposis, distal, type 2B | . | | | 37 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | TNNI2 CL E G H | 7136 | 11946 | OMIM:601680 | Arthrogryposis, distal, type 2B | . | | | 37 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | . | | | 54 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040284 - Very rare | | | 54 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040284 - Very rare | | | 108 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040284 - Very rare | | | 108 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | TRIP13 CL E G H | 9319 | 12307 | OMIM:617598 | Mosaic variegated aneuploidy syndrome 3 | | | | 2 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | HP:0040284 - Very rare | | | 214 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | . | | | 214 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:166063 | Pontocerebellar hypoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 106 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | HP:0040282 - Frequent | | | 35 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | . | | | 35 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | . | | | 27 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | . | | | 63 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | YY1 CL E G H | 7528 | 12856 | OMIM:617557 | Gabriele-De vries syndrome | | | | 7 | | |
HP:0002803 | HP:0005684 | Distal arthrogryposis | 1 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0002803 | HP:0005745 | Congenital foot contractures | 1 | ZC4H2 CL E G H | 55906 | 24931 | ORPHA:3454 | Intellectual disability-developmental delay-contractures syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | . | HP:0003577 - Congenital onset | | 19 | | |
HP:0002803 | HP:0005745 | Congenital foot contractures | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | . | | | 19 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 83 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ZNF335 CL E G H | 63925 | 15807 | OMIM:615095 | Microcephaly 10, primary, autosomal recessive | . | | | 60 | | |
HP:0002803 | HP:0002804 | Arthrogryposis multiplex congenita | 1 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002803 | HP:0005612 | Arthrogryposis-like hand anomaly | 2 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0002803 | HP:0005612 | Arthrogryposis-like hand anomaly | 2 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |