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:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | | | | 72 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | | | | 72 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | | | | 215 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | | | | 215 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | | | | 215 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | | | | 222 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | | | | 284 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | DYM CL E G H | 54808 | 21317 | OMIM:607326 | Smith-Mccort dysplasia 1 | | | | 65 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | | | | 172 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | | | | 145 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187601 | Thanatophoric dysplasia, type II | | | | 145 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | | | | 493 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | GSC CL E G H | 145258 | 4612 | OMIM:602471 | Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities | | | | 3 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:3144 | Schneckenbecken dysplasia | | | | 18 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618022 | Humerofemoral hypoplasia with radiotibial ray deficiency | | | | | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | | | | 90 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | | | | 90 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | SLC35D1 CL E G H | 23169 | 20800 | ORPHA:3144 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | | | | 109 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | | | | 5 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | TBX15 CL E G H | 6913 | 11594 | ORPHA:93333 | Pelviscapular dysplasia | | | | 5 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | | | | 133 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0006713 | HP:0006713 | Aplasia/Hypoplasia of the scapulae | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | | | | 136 | | |
HP:0006713 | HP:0010317 | Scapular aplasia | 1 | CL E G H | | | | | | | | | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | ACTB CL E G H | 60 | 132 | ORPHA:79107 | Developmental malformations-deafness-dystonia syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | . | | | 72 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | HP:0040282 - Frequent | | | 215 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | HP:0040282 - Frequent | | | 222 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | HP:0040282 - Frequent | | | 284 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | 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:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | . | | | 65 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | DYM CL E G H | 54808 | 21317 | OMIM:607326 | Smith-Mccort dysplasia 1 | . | | | 65 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | . | | | 172 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | | | | 145 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187601 | Thanatophoric dysplasia, type II | | | | 145 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | GSC CL E G H | 145258 | 4612 | OMIM:602471 | Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities | . | | | 3 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040281 - Very frequent | | | 18 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | 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:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | HP:0040283 - Occasional | | | 34 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | HP:0040283 - Occasional | | | 531 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618022 | Humerofemoral hypoplasia with radiotibial ray deficiency | . | | | | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040283 - Occasional | | | 90 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | . | | | 9 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | SLC35D1 CL E G H | 23169 | 20800 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040281 - Very frequent | | | 9 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | | | | 109 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | . | | | 5 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | TBX15 CL E G H | 6913 | 11594 | ORPHA:93333 | Pelviscapular dysplasia | HP:0040280 - Obligate | | | 5 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | . | | | 133 | | |
HP:0006713 | HP:0000882 | Hypoplastic scapulae | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:614091 | Short-Rib thoracic dysplasia 7 with or without polydactyly | . | | | 136 | | |
HP:0006713 | HP:0006631 | Hypoplastic distal segments of scapulae | 2 | CL E G H | | | | | | | | | | |
HP:0006713 | HP:0006584 | Small abnormally formed scapulae | 2 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | . | | | 145 | | |
HP:0006713 | HP:0006584 | Small abnormally formed scapulae | 2 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187601 | Thanatophoric dysplasia, type II | . | | | 145 | | |
HP:0006713 | HP:0006584 | Small abnormally formed scapulae | 2 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | HP:0040281 - Very frequent | | | 109 | | |