Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | | | | 415 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | ARF1 CL E G H | 375 | 652 | ORPHA:98892 | Periventricular nodular heterotopia | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | ARFGEF2 CL E G H | 10564 | 15853 | ORPHA:98892 | Periventricular nodular heterotopia | | | | 179 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | | | | 192 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 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:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040283 - Occasional | | | 101 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 101 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040283 - Occasional | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 8 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 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:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | | | | 65 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 373 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | | | | 243 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 660 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 325 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | | | | 38 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | | | | 27 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | | | | 27 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | | | | 151 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:98892 | Periventricular nodular heterotopia | | | | 36 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:166780 | Otofaciocervical syndrome | | | | 135 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:2792 | Otofaciocervical syndrome | | | | 135 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:98892 | Periventricular nodular heterotopia | | | | 493 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | GDF3 CL E G H | 9573 | 4218 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | GDF6 CL E G H | 392255 | 4221 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040282 - Frequent | | | 64 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | GSC CL E G H | 145258 | 4612 | OMIM:602471 | Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities | | | | 3 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | HHAT CL E G H | 55733 | 18270 | ORPHA:1422 | Chondrodysplasia-disorder of sex development syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 65 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | LGI4 CL E G H | 163175 | 18712 | OMIM:617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | | | | 6 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | LMBRD2 CL E G H | 92255 | 25287 | OMIM:619694 | DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:212112 | Malouf syndrome | | | | 645 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | LYSET CL E G H | 26175 | 20218 | OMIM:619345 | DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | MAP1B CL E G H | 4131 | 6836 | ORPHA:98892 | Periventricular nodular heterotopia | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | MEOX1 CL E G H | 4222 | 7013 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040283 - Occasional | | | 23 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | | | | 23 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | NEDD4L CL E G H | 23327 | 7728 | ORPHA:98892 | Periventricular nodular heterotopia | | | | 30 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | PAX1 CL E G H | 5075 | 8615 | ORPHA:2792 | Otofaciocervical syndrome | | | | 3 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | | | | 77 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | | | | 2 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 2 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 3 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | | | | 90 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | | | | 86 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | SPRTN CL E G H | 83932 | 25356 | OMIM:616200 | Ruijs-Aalfs syndrome | | | | 3 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | TBX5 CL E G H | 6910 | 11604 | ORPHA:392 | Holt-Oram syndrome | | | | 123 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | TMTC3 CL E G H | 160418 | 26899 | ORPHA:98892 | Periventricular nodular heterotopia | | | | 5 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | TNNT1 CL E G H | 7138 | 11948 | ORPHA:98902 | Amish nemaline myopathy | | | | 37 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | TNNT1 CL E G H | 7138 | 11948 | OMIM:605355 | NEMALINE MYOPATHY 5; NEM5 | | | | 37 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | TRAPPC2 CL E G H | 6399 | 23068 | ORPHA:93284 | Spondyloepiphyseal dysplasia tarda | HP:0040282 - Frequent | | | 46 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 7 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0003043 | HP:0003043 | Abnormal shoulder morphology | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0003043 | HP:0041217 | Fractured shoulder | 1 | CL E G H | | | | | | | | | | |
HP:0003043 | HP:0032201 | Rotator cuff tear | 1 | CL E G H | | | | | | | | | | |
HP:0003043 | HP:0003836 | Stippled calcification of the shoulder | 1 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 415 | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 1 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040283 - Occasional | | | | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 1 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | . | | | | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 1 | ARF1 CL E G H | 375 | 652 | ORPHA:98892 | Periventricular nodular heterotopia | HP:0040283 - Occasional | | | | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 1 | ARFGEF2 CL E G H | 10564 | 15853 | ORPHA:98892 | Periventricular nodular heterotopia | HP:0040283 - Occasional | | | 179 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040283 - Occasional | | | 192 | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 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:0003043 | HP:0200021 | Down-sloping shoulders | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 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:0003043 | HP:0003834 | Shoulder dislocation | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0003043 | HP:0003044 | Shoulder flexion contracture | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 1 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | | | | 243 | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 1 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 1 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 325 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | HP:0040281 - Very frequent | | | 38 | | |
HP:0003043 | HP:0011912 | Abnormality of the glenoid fossa | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0003043 | HP:0011912 | Abnormality of the glenoid fossa | 1 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0003043 | HP:0011912 | Abnormality of the glenoid fossa | 1 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | EFNB1 CL E G H | 1947 | 3226 | ORPHA:1520 | Craniofrontonasal dysplasia | HP:0040282 - Frequent | | | 27 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0003043 | HP:0003836 | Stippled calcification of the shoulder | 1 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040283 - Occasional | | | 151 | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 1 | ERMARD CL E G H | 55780 | 21056 | ORPHA:98892 | Periventricular nodular heterotopia | HP:0040283 - Occasional | | | 36 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:166780 | Otofaciocervical syndrome | . | | | 135 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | EYA1 CL E G H | 2138 | 3519 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 1 | FLNA CL E G H | 2316 | 3754 | ORPHA:98892 | Periventricular nodular heterotopia | HP:0040283 - Occasional | | | 493 | | |
HP:0003043 | HP:0006659 | Internally rotated shoulders | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0003043 | HP:0006595 | Scapulohumeral synostosis | 1 | GSC CL E G H | 145258 | 4612 | OMIM:602471 | Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities | . | | | 3 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0003043 | HP:0003044 | Shoulder flexion contracture | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0003043 | HP:0003044 | Shoulder flexion contracture | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | . | | | 4 | | |
HP:0003043 | HP:0003044 | Shoulder flexion contracture | 1 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003043 | HP:0003044 | Shoulder flexion contracture | 1 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0003043 | HP:0006659 | Internally rotated shoulders | 1 | LGI4 CL E G H | 163175 | 18712 | OMIM:617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | . | | | 6 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | LMBRD2 CL E G H | 92255 | 25287 | OMIM:619694 | DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA | | | | | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:212112 | Malouf syndrome | . | | | 645 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | | | | 645 | | |
HP:0003043 | HP:0011912 | Abnormality of the glenoid fossa | 1 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | | | | 165 | | |
HP:0003043 | HP:0011912 | Abnormality of the glenoid fossa | 1 | LYSET CL E G H | 26175 | 20218 | OMIM:619345 | DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN | | | | | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 1 | MAP1B CL E G H | 4131 | 6836 | ORPHA:98892 | Periventricular nodular heterotopia | HP:0040283 - Occasional | | | | | |
HP:0003043 | HP:0011912 | Abnormality of the glenoid fossa | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0003043 | HP:0003044 | Shoulder flexion contracture | 1 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | . | | | 166 | | |
HP:0003043 | HP:0003044 | Shoulder flexion contracture | 1 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 1 | NEDD4L CL E G H | 23327 | 7728 | ORPHA:98892 | Periventricular nodular heterotopia | HP:0040283 - Occasional | | | 30 | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 1 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0003043 | HP:0011912 | Abnormality of the glenoid fossa | 1 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | PAX1 CL E G H | 5075 | 8615 | ORPHA:2792 | Otofaciocervical syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | . | | | 77 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | HP:0040283 - Occasional | | | 2 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0003043 | HP:0003044 | Shoulder flexion contracture | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0003043 | HP:0011912 | Abnormality of the glenoid fossa | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040281 - Very frequent | | | 90 | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 1 | SALL4 CL E G H | 57167 | 15924 | OMIM:607323 | Duane-Radial ray syndrome | | | | 86 | | |
HP:0003043 | HP:0011912 | Abnormality of the glenoid fossa | 1 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | SPRTN CL E G H | 83932 | 25356 | OMIM:616200 | Ruijs-Aalfs syndrome | . | | | 3 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | TBX5 CL E G H | 6910 | 11604 | ORPHA:392 | Holt-Oram syndrome | HP:0040283 - Occasional | | | 123 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0003043 | HP:0003834 | Shoulder dislocation | 1 | TMTC3 CL E G H | 160418 | 26899 | ORPHA:98892 | Periventricular nodular heterotopia | HP:0040283 - Occasional | | | 5 | | |
HP:0003043 | HP:0003044 | Shoulder flexion contracture | 1 | TNNT1 CL E G H | 7138 | 11948 | ORPHA:98902 | Amish nemaline myopathy | HP:0040282 - Frequent | | | 37 | | |
HP:0003043 | HP:0003044 | Shoulder flexion contracture | 1 | TNNT1 CL E G H | 7138 | 11948 | OMIM:605355 | NEMALINE MYOPATHY 5; NEM5 | | | | 37 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | . | | | 214 | | |
HP:0003043 | HP:0200021 | Down-sloping shoulders | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0003043 | HP:0031610 | Recurrent shoulder dislocation | 2 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 243 | | |
HP:0003043 | HP:0006591 | Absent glenoid fossa | 2 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0003043 | HP:0006633 | Glenoid fossa hypoplasia | 2 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040283 - Occasional | | | 65 | | |
HP:0003043 | HP:0000911 | Flat glenoid fossa | 2 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | . | | | 65 | | |
HP:0003043 | HP:0006633 | Glenoid fossa hypoplasia | 2 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | |
HP:0003043 | HP:0006633 | Glenoid fossa hypoplasia | 2 | LYSET CL E G H | 26175 | 20218 | OMIM:619345 | DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN | | | | | | |
HP:0003043 | HP:0006591 | Absent glenoid fossa | 2 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0003043 | HP:0006591 | Absent glenoid fossa | 2 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0003043 | HP:0000911 | Flat glenoid fossa | 2 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0003043 | HP:0006591 | Absent glenoid fossa | 2 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0003043 | HP:0006633 | Glenoid fossa hypoplasia | 2 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | . | | | 11 | | |