Human Phenotype Ontology 
Grandparent Node:
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Abnormal axial skeleton morphology (HP:0009121)help
Parent Node:
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Abnormal thorax morphology (HP:0000765)help
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Abnormal scapula morphology (HP:0000782)help
Term ID: 782
Name: Abnormal scapula morphology
Synonym: Abnormality of the shoulder blade
Definition: Any abnormality of the scapula, also known as the shoulder blade.
Comments:
Reference: HP:0000782
Genes and Diseases:
 
       Child Nodes:
........expandSprengel anomaly (HP:0000912) help
........expandScapular exostoses (HP:0000918) help
........expandSclerotic scapulae (HP:0001474) help
........expandScapular winging (HP:0003691) help
........expandScapulohumeral synostosis (HP:0006595) help
........expandThickening of the lateral border of the scapula (HP:0006650) help
........expandAplasia/Hypoplasia of the scapulae (HP:0006713) help
................... HP:0000882 Hypoplastic scapulae
................... HP:0010317 Scapular aplasia
........expandAbnormality of the glenoid fossa (HP:0011912) help
................... HP:0000911 Flat glenoid fossa
................... HP:0006591 Absent glenoid fossa
................... HP:0006633 Glenoid fossa hypoplasia
........expandHorizontal inferior border of scapula (HP:0031233) help

 Sister Nodes: 
..expandAbnormal clavicle morphology (HP:0000889) help
..expandAbnormal rib cage morphology (HP:0001547) help
..expandAbnormal shoulder morphology (HP:0003043) help
..expandAbnormal sternum morphology (HP:0000766) help
..expandAbnormal thoracic spine morphology (HP:0100711) help
..expandAplasia/Hypoplasia involving bones of the thorax (HP:0006711) help
..expandChest pain (HP:0100749) help
..expandIntercostal muscle weakness (HP:0004878) help
..expandShort thorax (HP:0010306) help
..expandThoracic hypoplasia (HP:0005257) help
..expandThoracoabdominal wall defect (HP:0100656) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000782HP:0000782Abnormal scapula morphology0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0000782HP:0000782Abnormal scapula morphology0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0000782HP:0000782Abnormal scapula morphology0ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndrome72
HP:0000782HP:0000782Abnormal scapula morphology0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0000782HP:0000782Abnormal scapula morphology0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0000782HP:0000782Abnormal scapula morphology0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0000782HP:0000782Abnormal scapula morphology0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defect12
HP:0000782HP:0000782Abnormal scapula morphology0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defect46
HP:0000782HP:0000782Abnormal scapula morphology0ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 1446
HP:0000782HP:0000782Abnormal scapula morphology0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0000782HP:0000782Abnormal scapula morphology0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0000782HP:0000782Abnormal scapula morphology0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000782HP:0000782Abnormal scapula morphology0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0000782HP:0000782Abnormal scapula morphology0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0000782HP:0000782Abnormal scapula morphology0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathy99
HP:0000782HP:0000782Abnormal scapula morphology0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 299
HP:0000782HP:0000782Abnormal scapula morphology0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentigines276
HP:0000782HP:0000782Abnormal scapula morphology0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0000782HP:0000782Abnormal scapula morphology0CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1323
HP:0000782HP:0000782Abnormal scapula morphology0CAPN3 CL E G H8251480OMIM:618129Muscular dystrophy, limb-girdle, autosomal dominant 4323
HP:0000782HP:0000782Abnormal scapula morphology0CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A323
HP:0000782HP:0000782Abnormal scapula morphology0CCDC8 CL E G H8398725367ORPHA:26163M syndrome5
HP:0000782HP:0000782Abnormal scapula morphology0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000782HP:0000782Abnormal scapula morphology0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome215
HP:0000782HP:0000782Abnormal scapula morphology0COL11A1 CL E G H13012186ORPHA:2021Fibrochondrogenesis215
HP:0000782HP:0000782Abnormal scapula morphology0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0000782HP:0000782Abnormal scapula morphology0COL11A2 CL E G H13022187ORPHA:2021Fibrochondrogenesis222
HP:0000782HP:0000782Abnormal scapula morphology0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0000782HP:0000782Abnormal scapula morphology0COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0000782HP:0000782Abnormal scapula morphology0COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance type284
HP:0000782HP:0000782Abnormal scapula morphology0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0000782HP:0000782Abnormal scapula morphology0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0000782HP:0000782Abnormal scapula morphology0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0000782HP:0000782Abnormal scapula morphology0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0000782HP:0000782Abnormal scapula morphology0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0000782HP:0000782Abnormal scapula morphology0CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
HP:0000782HP:0000782Abnormal scapula morphology0CRPPA CL E G H72992037276OMIM:616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0000782HP:0000782Abnormal scapula morphology0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000782HP:0000782Abnormal scapula morphology0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0000782HP:0000782Abnormal scapula morphology0CUL7 CL E G H982021024ORPHA:26163M syndrome127
HP:0000782HP:0000782Abnormal scapula morphology0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000782HP:0000782Abnormal scapula morphology0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic form94
HP:0000782HP:0000782Abnormal scapula morphology0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defect38
HP:0000782HP:0000782Abnormal scapula morphology0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0000782HP:0000782Abnormal scapula morphology0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0000782HP:0000782Abnormal scapula morphology0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0000782HP:0000782Abnormal scapula morphology0DYM CL E G H5480821317OMIM:607326Smith-Mccort dysplasia 165
HP:0000782HP:0000782Abnormal scapula morphology0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2600
HP:0000782HP:0000782Abnormal scapula morphology0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0000782HP:0000782Abnormal scapula morphology0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0000782HP:0000782Abnormal scapula morphology0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0000782HP:0000782Abnormal scapula morphology0EMILIN1 CL E G H1111719880OMIM:6200802
HP:0000782HP:0000782Abnormal scapula morphology0EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I96
HP:0000782HP:0000782Abnormal scapula morphology0EXT1 CL E G H21313512ORPHA:321Multiple osteochondromas96
HP:0000782HP:0000782Abnormal scapula morphology0EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II102
HP:0000782HP:0000782Abnormal scapula morphology0EXT2 CL E G H21323513ORPHA:321Multiple osteochondromas102
HP:0000782HP:0000782Abnormal scapula morphology0EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndrome135
HP:0000782HP:0000782Abnormal scapula morphology0EYA1 CL E G H21383519OMIM:166780Otofaciocervical syndrome135
HP:0000782HP:0000782Abnormal scapula morphology0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000782HP:0000782Abnormal scapula morphology0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia172
HP:0000782HP:0000782Abnormal scapula morphology0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0000782HP:0000782Abnormal scapula morphology0FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II145
HP:0000782HP:0000782Abnormal scapula morphology0FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy68
HP:0000782HP:0000782Abnormal scapula morphology0FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant68
HP:0000782HP:0000782Abnormal scapula morphology0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0000782HP:0000782Abnormal scapula morphology0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndrome111
HP:0000782HP:0000782Abnormal scapula morphology0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0000782HP:0000782Abnormal scapula morphology0FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia493
HP:0000782HP:0000782Abnormal scapula morphology0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasia493
HP:0000782HP:0000782Abnormal scapula morphology0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome493
HP:0000782HP:0000782Abnormal scapula morphology0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0000782HP:0000782Abnormal scapula morphology0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 11
HP:0000782HP:0000782Abnormal scapula morphology0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0000782HP:0000782Abnormal scapula morphology0GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000782HP:0000782Abnormal scapula morphology0GDF3 CL E G H95734218ORPHA:2345Isolated Klippel-Feil syndrome7
HP:0000782HP:0000782Abnormal scapula morphology0GDF6 CL E G H3922554221ORPHA:2345Isolated Klippel-Feil syndrome64
HP:0000782HP:0000782Abnormal scapula morphology0GDF6 CL E G H3922554221OMIM:118100Klippel-Feil syndrome 1, autosomal dominant64
HP:0000782HP:0000782Abnormal scapula morphology0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defect128
HP:0000782HP:0000782Abnormal scapula morphology0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defect34
HP:0000782HP:0000782Abnormal scapula morphology0GNE CL E G H1002023657ORPHA:602GNE myopathy173
HP:0000782HP:0000782Abnormal scapula morphology0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0000782HP:0000782Abnormal scapula morphology0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0000782HP:0000782Abnormal scapula morphology0GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian typeHP:0040281 - Very frequent3
HP:0000782HP:0000782Abnormal scapula morphology0GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities3
HP:0000782HP:0000782Abnormal scapula morphology0GYG1 CL E G H29924699OMIM:613507Glycogen storage disease XV18
HP:0000782HP:0000782Abnormal scapula morphology0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0000782HP:0000782Abnormal scapula morphology0INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasia18
HP:0000782HP:0000782Abnormal scapula morphology0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0000782HP:0000782Abnormal scapula morphology0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis193
HP:0000782HP:0000782Abnormal scapula morphology0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0000782HP:0000782Abnormal scapula morphology0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0000782HP:0000782Abnormal scapula morphology0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0000782HP:0000782Abnormal scapula morphology0LEMD3 CL E G H2359228887ORPHA:166119Isolated osteopoikilosis68
HP:0000782HP:0000782Abnormal scapula morphology0LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect6
HP:0000782HP:0000782Abnormal scapula morphology0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0000782HP:0000782Abnormal scapula morphology0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophy645
HP:0000782HP:0000782Abnormal scapula morphology0LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant645
HP:0000782HP:0000782Abnormal scapula morphology0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0000782HP:0000782Abnormal scapula morphology0LRIF1 CL E G H5579130299OMIM:619477FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0000782HP:0000782Abnormal scapula morphology0LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0000782HP:0000782Abnormal scapula morphology0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasia11
HP:0000782HP:0000782Abnormal scapula morphology0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000782HP:0000782Abnormal scapula morphology0MEOX1 CL E G H42227013ORPHA:2345Isolated Klippel-Feil syndrome5
HP:0000782HP:0000782Abnormal scapula morphology0MEOX1 CL E G H42227013OMIM:214300Klippel-Feil syndrome, autosomal recessive5
HP:0000782HP:0000782Abnormal scapula morphology0MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0000782HP:0000782Abnormal scapula morphology0MYH2 CL E G H46207572OMIM:605637Myopathy, proximal, and ophthalmoplegia105
HP:0000782HP:0000782Abnormal scapula morphology0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0000782HP:0000782Abnormal scapula morphology0MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage1269
HP:0000782HP:0000782Abnormal scapula morphology0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0000782HP:0000782Abnormal scapula morphology0MYPN CL E G H8466523246OMIM:617336Nemaline myopathy 11, autosomal recessive217
HP:0000782HP:0000782Abnormal scapula morphology0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0000782HP:0000782Abnormal scapula morphology0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0000782HP:0000782Abnormal scapula morphology0NPR2 CL E G H48827944ORPHA:40Acromesomelic dysplasia, Maroteaux type53
HP:0000782HP:0000782Abnormal scapula morphology0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0000782HP:0000782Abnormal scapula morphology0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0000782HP:0000782Abnormal scapula morphology0OBSL1 CL E G H2336329092ORPHA:26163M syndrome143
HP:0000782HP:0000782Abnormal scapula morphology0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic form214
HP:0000782HP:0000782Abnormal scapula morphology0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0000782HP:0000782Abnormal scapula morphology0PAX1 CL E G H50758615ORPHA:2792Otofaciocervical syndrome3
HP:0000782HP:0000782Abnormal scapula morphology0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0000782HP:0000782Abnormal scapula morphology0PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 159
HP:0000782HP:0000782Abnormal scapula morphology0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 159
HP:0000782HP:0000782Abnormal scapula morphology0PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 359
HP:0000782HP:0000782Abnormal scapula morphology0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0000782HP:0000782Abnormal scapula morphology0POGLUT1 CL E G H5698322954OMIM:617232Muscular dystrophy, limb-girdle, type 2Z6
HP:0000782HP:0000782Abnormal scapula morphology0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0000782HP:0000782Abnormal scapula morphology0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0000782HP:0000782Abnormal scapula morphology0POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14221
HP:0000782HP:0000782Abnormal scapula morphology0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0000782HP:0000782Abnormal scapula morphology0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000782HP:0000782Abnormal scapula morphology0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0000782HP:0000782Abnormal scapula morphology0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0000782HP:0000782Abnormal scapula morphology0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0000782HP:0000782Abnormal scapula morphology0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1291
HP:0000782HP:0000782Abnormal scapula morphology0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentigines291
HP:0000782HP:0000782Abnormal scapula morphology0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0000782HP:0000782Abnormal scapula morphology0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentigines212
HP:0000782HP:0000782Abnormal scapula morphology0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0000782HP:0000782Abnormal scapula morphology0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0000782HP:0000782Abnormal scapula morphology0RPL11 CL E G H613510301OMIM:612562Diamond-Blackfan anemia 722
HP:0000782HP:0000782Abnormal scapula morphology0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0000782HP:0000782Abnormal scapula morphology0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0000782HP:0000782Abnormal scapula morphology0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0000782HP:0000782Abnormal scapula morphology0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0000782HP:0000782Abnormal scapula morphology0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0000782HP:0000782Abnormal scapula morphology0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0000782HP:0000782Abnormal scapula morphology0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0000782HP:0000782Abnormal scapula morphology0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0000782HP:0000782Abnormal scapula morphology0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0000782HP:0000782Abnormal scapula morphology0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0000782HP:0000782Abnormal scapula morphology0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0000782HP:0000782Abnormal scapula morphology0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0000782HP:0000782Abnormal scapula morphology0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0000782HP:0000782Abnormal scapula morphology0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0000782HP:0000782Abnormal scapula morphology0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0000782HP:0000782Abnormal scapula morphology0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0000782HP:0000782Abnormal scapula morphology0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0000782HP:0000782Abnormal scapula morphology0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0000782HP:0000782Abnormal scapula morphology0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0000782HP:0000782Abnormal scapula morphology0RSPO2 CL E G H34041928583OMIM:618022Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0000782HP:0000782Abnormal scapula morphology0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000782HP:0000782Abnormal scapula morphology0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0000782HP:0000782Abnormal scapula morphology0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0000782HP:0000782Abnormal scapula morphology0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathy1200
HP:0000782HP:0000782Abnormal scapula morphology0RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onset1200
HP:0000782HP:0000782Abnormal scapula morphology0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0000782HP:0000782Abnormal scapula morphology0SEPTIN9 CL E G H108017323ORPHA:2901Neuralgic amyotrophy
HP:0000782HP:0000782Abnormal scapula morphology0SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez type49
HP:0000782HP:0000782Abnormal scapula morphology0SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3132
HP:0000782HP:0000782Abnormal scapula morphology0SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D132
HP:0000782HP:0000782Abnormal scapula morphology0SGCB CL E G H644310806OMIM:604286Muscular dystrophy, limb-girdle, type 2E113
HP:0000782HP:0000782Abnormal scapula morphology0SGCD CL E G H644410807ORPHA:219Delta-sarcoglycan-related limb-girdle muscular dystrophy R6223
HP:0000782HP:0000782Abnormal scapula morphology0SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F223
HP:0000782HP:0000782Abnormal scapula morphology0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R583
HP:0000782HP:0000782Abnormal scapula morphology0SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasia9
HP:0000782HP:0000782Abnormal scapula morphology0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0000782HP:0000782Abnormal scapula morphology0SMCHD1 CL E G H2334729090OMIM:158901FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2174
HP:0000782HP:0000782Abnormal scapula morphology0SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0000782HP:0000782Abnormal scapula morphology0SOST CL E G H5096413771OMIM:269500Sclerosteosis 126
HP:0000782HP:0000782Abnormal scapula morphology0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasia109
HP:0000782HP:0000782Abnormal scapula morphology0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0000782HP:0000782Abnormal scapula morphology0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathy20
HP:0000782HP:0000782Abnormal scapula morphology0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000782HP:0000782Abnormal scapula morphology0SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0000782HP:0000782Abnormal scapula morphology0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0000782HP:0000782Abnormal scapula morphology0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy1129
HP:0000782HP:0000782Abnormal scapula morphology0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy508
HP:0000782HP:0000782Abnormal scapula morphology0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0000782HP:0000782Abnormal scapula morphology0TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasia5
HP:0000782HP:0000782Abnormal scapula morphology0TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0000782HP:0000782Abnormal scapula morphology0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndrome100
HP:0000782HP:0000782Abnormal scapula morphology0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0000782HP:0000782Abnormal scapula morphology0TBX5 CL E G H691011604ORPHA:392Holt-Oram syndrome123
HP:0000782HP:0000782Abnormal scapula morphology0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000782HP:0000782Abnormal scapula morphology0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegia103
HP:0000782HP:0000782Abnormal scapula morphology0TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3103
HP:0000782HP:0000782Abnormal scapula morphology0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasia6
HP:0000782HP:0000782Abnormal scapula morphology0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0000782HP:0000782Abnormal scapula morphology0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy171
HP:0000782HP:0000782Abnormal scapula morphology0TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 271
HP:0000782HP:0000782Abnormal scapula morphology0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0000782HP:0000782Abnormal scapula morphology0TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 454
HP:0000782HP:0000782Abnormal scapula morphology0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0000782HP:0000782Abnormal scapula morphology0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000782HP:0000782Abnormal scapula morphology0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0000782HP:0000782Abnormal scapula morphology0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I171
HP:0000782HP:0000782Abnormal scapula morphology0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0000782HP:0000782Abnormal scapula morphology0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0000782HP:0000782Abnormal scapula morphology0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathy7128
HP:0000782HP:0000782Abnormal scapula morphology0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0000782HP:0000782Abnormal scapula morphology0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0000782HP:0000782Abnormal scapula morphology0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndrome6
HP:0000782HP:0000782Abnormal scapula morphology0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0000782HP:0000782Abnormal scapula morphology0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y63
HP:0000782HP:0000782Abnormal scapula morphology0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163
HP:0000782HP:0000782Abnormal scapula morphology0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0000782HP:0000782Abnormal scapula morphology0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000782HP:0000782Abnormal scapula morphology0WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly136
HP:0000782HP:0041244Fractured scapula1 CL E G H
HP:0000782HP:0003691Scapular winging1ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0000782HP:0003691Scapular winging1ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndrome72
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0000782HP:0031233Horizontal inferior border of scapula1ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0000782HP:0000912Sprengel anomaly1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0000782HP:0003691Scapular winging1ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0000782HP:0003691Scapular winging1ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0000782HP:0003691Scapular winging1ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 14HP:0040283 - Occasional46
HP:0000782HP:0003691Scapular winging1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040283 - Occasional304
HP:0000782HP:0003691Scapular winging1ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0000782HP:0003691Scapular winging1ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000782HP:0003691Scapular winging1ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0000782HP:0003691Scapular winging1BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominantHP:0040283 - Occasional46
HP:0000782HP:0003691Scapular winging1BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0000782HP:0003691Scapular winging1BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2HP:0040283 - Occasional99
HP:0000782HP:0000912Sprengel anomaly1BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent276
HP:0000782HP:0003691Scapular winging1BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent276
HP:0000782HP:0003691Scapular winging1C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0000782HP:0003691Scapular winging1CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1HP:0040282 - Frequent323
HP:0000782HP:0003691Scapular winging1CAPN3 CL E G H8251480OMIM:618129Muscular dystrophy, limb-girdle, autosomal dominant 4.323
HP:0000782HP:0003691Scapular winging1CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A.323
HP:0000782HP:0003691Scapular winging1CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040281 - Very frequent5
HP:0000782HP:0000912Sprengel anomaly1CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome215
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1COL11A1 CL E G H13012186ORPHA:2021Fibrochondrogenesis215
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1COL11A2 CL E G H13022187ORPHA:2021Fibrochondrogenesis222
HP:0000782HP:0003691Scapular winging1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040283 - Occasional65
HP:0000782HP:0003691Scapular winging1COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance type284
HP:0000782HP:0000912Sprengel anomaly1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040281 - Very frequent749
HP:0000782HP:0003691Scapular winging1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040283 - Occasional442
HP:0000782HP:0003691Scapular winging1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040283 - Occasional478
HP:0000782HP:0003691Scapular winging1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040283 - Occasional702
HP:0000782HP:0003691Scapular winging1COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent90
HP:0000782HP:0003691Scapular winging1CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20HP:0040283 - Occasional
HP:0000782HP:0003691Scapular winging1CRPPA CL E G H72992037276OMIM:616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7.
HP:0000782HP:0003691Scapular winging1CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000782HP:0003691Scapular winging1CUL7 CL E G H982021024OMIM:2737503-M syndrome 1.127
HP:0000782HP:0003691Scapular winging1CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040281 - Very frequent127
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000782HP:0011912Abnormality of the glenoid fossa1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000782HP:0003691Scapular winging1DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare94
HP:0000782HP:0003691Scapular winging1DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0000782HP:0003691Scapular winging1DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0000782HP:0011912Abnormality of the glenoid fossa1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0000782HP:0011912Abnormality of the glenoid fossa1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0000782HP:0031233Horizontal inferior border of scapula1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1DYM CL E G H5480821317OMIM:607326Smith-Mccort dysplasia 165
HP:0000782HP:0003691Scapular winging1DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040283 - Occasional600
HP:0000782HP:0000912Sprengel anomaly1EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0000782HP:0000912Sprengel anomaly1EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0000782HP:0003691Scapular winging1EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent107
HP:0000782HP:0000912Sprengel anomaly1EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent107
HP:0000782HP:0003691Scapular winging1EMILIN1 CL E G H1111719880OMIM:6200802
HP:0000782HP:0000918Scapular exostoses1EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I.96
HP:0000782HP:0000918Scapular exostoses1EXT1 CL E G H21313512ORPHA:321Multiple osteochondromasHP:0040284 - Very rare96
HP:0000782HP:0000918Scapular exostoses1EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II.102
HP:0000782HP:0000918Scapular exostoses1EXT2 CL E G H21323513ORPHA:321Multiple osteochondromasHP:0040284 - Very rare102
HP:0000782HP:0003691Scapular winging1EYA1 CL E G H21383519OMIM:166780Otofaciocervical syndrome.135
HP:0000782HP:0003691Scapular winging1EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent135
HP:0000782HP:0003691Scapular winging1FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia172
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II145
HP:0000782HP:0003691Scapular winging1FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy.68
HP:0000782HP:0003691Scapular winging1FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant.68
HP:0000782HP:0000912Sprengel anomaly1FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent68
HP:0000782HP:0003691Scapular winging1FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent68
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional111
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000782HP:0000912Sprengel anomaly1FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040283 - Occasional493
HP:0000782HP:0003691Scapular winging1FLNA CL E G H23163754OMIM:305620Frontometaphyseal dysplasia.493
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome493
HP:0000782HP:0003691Scapular winging1FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0000782HP:0003691Scapular winging1FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0000782HP:0000912Sprengel anomaly1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional29
HP:0000782HP:0003691Scapular winging1GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000782HP:0000912Sprengel anomaly1GDF3 CL E G H95734218ORPHA:2345Isolated Klippel-Feil syndromeHP:0040282 - Frequent7
HP:0000782HP:0000912Sprengel anomaly1GDF6 CL E G H3922554221ORPHA:2345Isolated Klippel-Feil syndromeHP:0040282 - Frequent64
HP:0000782HP:0000912Sprengel anomaly1GDF6 CL E G H3922554221OMIM:118100Klippel-Feil syndrome 1, autosomal dominant64
HP:0000782HP:0003691Scapular winging1GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0000782HP:0003691Scapular winging1GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0000782HP:0003691Scapular winging1GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040283 - Occasional173
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0000782HP:0031233Horizontal inferior border of scapula1GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0000782HP:0006595Scapulohumeral synostosis1GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities.3
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities3
HP:0000782HP:0003691Scapular winging1GYG1 CL E G H29924699OMIM:613507Glycogen storage disease XV18
HP:0000782HP:0000912Sprengel anomaly1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasia18
HP:0000782HP:0003691Scapular winging1KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0000782HP:0003691Scapular winging1KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0000782HP:0003691Scapular winging1KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0000782HP:0003691Scapular winging1LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040282 - Frequent92
HP:0000782HP:0001474Sclerotic scapulae1LEMD3 CL E G H2359228887ORPHA:166119Isolated osteopoikilosis68
HP:0000782HP:0003691Scapular winging1LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect.6
HP:0000782HP:0000912Sprengel anomaly1LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0000782HP:0003691Scapular winging1LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0000782HP:0003691Scapular winging1LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0000782HP:0000912Sprengel anomaly1LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0000782HP:0003691Scapular winging1LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant.645
HP:0000782HP:0006650Thickening of the lateral border of the scapula1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0000782HP:0011912Abnormality of the glenoid fossa1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0000782HP:0003691Scapular winging1LRIF1 CL E G H5579130299OMIM:619477FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0000782HP:0011912Abnormality of the glenoid fossa1LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0000782HP:0000912Sprengel anomaly1MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040283 - Occasional11
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000782HP:0011912Abnormality of the glenoid fossa1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0000782HP:0000912Sprengel anomaly1MEOX1 CL E G H42227013ORPHA:2345Isolated Klippel-Feil syndromeHP:0040282 - Frequent5
HP:0000782HP:0000912Sprengel anomaly1MEOX1 CL E G H42227013OMIM:214300Klippel-Feil syndrome, autosomal recessive.5
HP:0000782HP:0003691Scapular winging1MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0000782HP:0003691Scapular winging1MYH2 CL E G H46207572OMIM:605637Myopathy, proximal, and ophthalmoplegiaHP:0040283 - Occasional105
HP:0000782HP:0003691Scapular winging1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040282 - Frequent1269
HP:0000782HP:0003691Scapular winging1MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage.1269
HP:0000782HP:0003691Scapular winging1MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0000782HP:0003691Scapular winging1MYPN CL E G H8466523246OMIM:617336Nemaline myopathy 11, autosomal recessiveHP:0040283 - Occasional217
HP:0000782HP:0003691Scapular winging1NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0000782HP:0003691Scapular winging1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0000782HP:0000912Sprengel anomaly1NPR2 CL E G H48827944ORPHA:40Acromesomelic dysplasia, Maroteaux typeHP:0040282 - Frequent53
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0000782HP:0003691Scapular winging1OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0000782HP:0003691Scapular winging1OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040281 - Very frequent143
HP:0000782HP:0003691Scapular winging1OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare214
HP:0000782HP:0011912Abnormality of the glenoid fossa1ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0000782HP:0003691Scapular winging1PAX1 CL E G H50758615ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent3
HP:0000782HP:0003691Scapular winging1PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0000782HP:0000912Sprengel anomaly1PAX3 CL E G H50778617ORPHA:894Waardenburg syndrome type 1HP:0040283 - Occasional59
HP:0000782HP:0000912Sprengel anomaly1PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0000782HP:0003691Scapular winging1PAX3 CL E G H50778617OMIM:148820Waardenburg syndrome, type 3.59
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0000782HP:0003691Scapular winging1POGLUT1 CL E G H5698322954OMIM:617232Muscular dystrophy, limb-girdle, type 2Z.6
HP:0000782HP:0003691Scapular winging1POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040284 - Very rare464
HP:0000782HP:0003691Scapular winging1POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0000782HP:0003691Scapular winging1POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14HP:0040283 - Occasional221
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0000782HP:0003691Scapular winging1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0000782HP:0000912Sprengel anomaly1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0000782HP:0000912Sprengel anomaly1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0000782HP:0003691Scapular winging1PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0000782HP:0003691Scapular winging1PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent291
HP:0000782HP:0000912Sprengel anomaly1PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent291
HP:0000782HP:0003691Scapular winging1PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0000782HP:0000912Sprengel anomaly1RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent212
HP:0000782HP:0003691Scapular winging1RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent212
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0000782HP:0000912Sprengel anomaly1RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0000782HP:0000912Sprengel anomaly1RPL11 CL E G H613510301OMIM:612562Diamond-Blackfan anemia 7.22
HP:0000782HP:0000912Sprengel anomaly1RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0000782HP:0000912Sprengel anomaly1RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0000782HP:0000912Sprengel anomaly1RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0000782HP:0000912Sprengel anomaly1RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0000782HP:0000912Sprengel anomaly1RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0000782HP:0000912Sprengel anomaly1RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0000782HP:0000912Sprengel anomaly1RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional11
HP:0000782HP:0000912Sprengel anomaly1RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional40
HP:0000782HP:0000912Sprengel anomaly1RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional26
HP:0000782HP:0000912Sprengel anomaly1RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0000782HP:0000912Sprengel anomaly1RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional5
HP:0000782HP:0000912Sprengel anomaly1RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional42
HP:0000782HP:0000912Sprengel anomaly1RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0000782HP:0000912Sprengel anomaly1RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0000782HP:0000912Sprengel anomaly1RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0000782HP:0000912Sprengel anomaly1RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0000782HP:0000912Sprengel anomaly1RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0000782HP:0000912Sprengel anomaly1RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0000782HP:0000912Sprengel anomaly1RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1RSPO2 CL E G H34041928583OMIM:618022Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0000782HP:0011912Abnormality of the glenoid fossa1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0000782HP:0003691Scapular winging1RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0000782HP:0003691Scapular winging1RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onsetHP:0040282 - Frequent1200
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0000782HP:0011912Abnormality of the glenoid fossa1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0000782HP:0003691Scapular winging1SEPTIN9 CL E G H108017323ORPHA:2901Neuralgic amyotrophyHP:0040282 - Frequent
HP:0000782HP:0000912Sprengel anomaly1SEPTIN9 CL E G H108017323ORPHA:2901Neuralgic amyotrophyHP:0040282 - Frequent
HP:0000782HP:0000912Sprengel anomaly1SF3B4 CL E G H1026210771ORPHA:1788Acrofacial dysostosis, Rodríguez typeHP:0040282 - Frequent49
HP:0000782HP:0003691Scapular winging1SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3HP:0040282 - Frequent132
HP:0000782HP:0003691Scapular winging1SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D132
HP:0000782HP:0003691Scapular winging1SGCB CL E G H644310806OMIM:604286Muscular dystrophy, limb-girdle, type 2E.113
HP:0000782HP:0003691Scapular winging1SGCD CL E G H644410807ORPHA:219Delta-sarcoglycan-related limb-girdle muscular dystrophy R6HP:0040282 - Frequent223
HP:0000782HP:0003691Scapular winging1SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F.223
HP:0000782HP:0003691Scapular winging1SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasia9
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0000782HP:0003691Scapular winging1SMCHD1 CL E G H2334729090OMIM:158901FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2174
HP:0000782HP:0003691Scapular winging1SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0000782HP:0001474Sclerotic scapulae1SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1SOX9 CL E G H666211204ORPHA:140Campomelic dysplasia109
HP:0000782HP:0003691Scapular winging1SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0000782HP:0003691Scapular winging1SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000782HP:0003691Scapular winging1SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0000782HP:0000912Sprengel anomaly1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0000782HP:0003691Scapular winging1SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent1129
HP:0000782HP:0000912Sprengel anomaly1SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent1129
HP:0000782HP:0000912Sprengel anomaly1SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent508
HP:0000782HP:0003691Scapular winging1SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent508
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasia5
HP:0000782HP:0000912Sprengel anomaly1TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION.
HP:0000782HP:0000912Sprengel anomaly1TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndromeHP:0040283 - Occasional100
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0000782HP:0000912Sprengel anomaly1TBX5 CL E G H691011604ORPHA:392Holt-Oram syndromeHP:0040283 - Occasional123
HP:0000782HP:0003691Scapular winging1TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0000782HP:0003691Scapular winging1TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040284 - Very rare103
HP:0000782HP:0003691Scapular winging1TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3.103
HP:0000782HP:0000912Sprengel anomaly1TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040282 - Frequent6
HP:0000782HP:0000912Sprengel anomaly1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0000782HP:0000912Sprengel anomaly1TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent171
HP:0000782HP:0003691Scapular winging1TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent171
HP:0000782HP:0003691Scapular winging1TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 2.71
HP:0000782HP:0003691Scapular winging1TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0000782HP:0003691Scapular winging1TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 4.54
HP:0000782HP:0003691Scapular winging1TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0000782HP:0003691Scapular winging1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0000782HP:0003691Scapular winging1TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0000782HP:0003691Scapular winging1TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0000782HP:0000912Sprengel anomaly1TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0000782HP:0003691Scapular winging1TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128
HP:0000782HP:0003691Scapular winging1TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0000782HP:0003691Scapular winging1TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional6
HP:0000782HP:0003691Scapular winging1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63
HP:0000782HP:0003691Scapular winging1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0000782HP:0003691Scapular winging1VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63
HP:0000782HP:0003691Scapular winging1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0000782HP:0000912Sprengel anomaly1WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000782HP:0006713Aplasia/Hypoplasia of the scapulae1WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly136
HP:0000782HP:0010317Scapular aplasia2 CL E G H
HP:0000782HP:0000882Hypoplastic scapulae2ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndromeHP:0040281 - Very frequent72
HP:0000782HP:0000882Hypoplastic scapulae2ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset.72
HP:0000782HP:0000882Hypoplastic scapulae2COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeHP:0040282 - Frequent215
HP:0000782HP:0000882Hypoplastic scapulae2COL11A1 CL E G H13012186ORPHA:2021FibrochondrogenesisHP:0040282 - Frequent215
HP:0000782HP:0000882Hypoplastic scapulae2COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0000782HP:0000882Hypoplastic scapulae2COL11A2 CL E G H13022187ORPHA:2021FibrochondrogenesisHP:0040282 - Frequent222
HP:0000782HP:0000882Hypoplastic scapulae2COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance typeHP:0040282 - Frequent284
HP:0000782HP:0006591Absent glenoid fossa2DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000782HP:0000882Hypoplastic scapulae2DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000782HP:0000911Flat glenoid fossa2DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0000782HP:0000882Hypoplastic scapulae2DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0000782HP:0006633Glenoid fossa hypoplasia2DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0000782HP:0000882Hypoplastic scapulae2DYM CL E G H5480821317OMIM:607326Smith-Mccort dysplasia 1.65
HP:0000782HP:0000882Hypoplastic scapulae2FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0000782HP:0000882Hypoplastic scapulae2FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0000782HP:0000882Hypoplastic scapulae2FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II145
HP:0000782HP:0000882Hypoplastic scapulae2FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000782HP:0000882Hypoplastic scapulae2FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0000782HP:0000882Hypoplastic scapulae2GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0000782HP:0000882Hypoplastic scapulae2GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities.3
HP:0000782HP:0000882Hypoplastic scapulae2INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent18
HP:0000782HP:0006633Glenoid fossa hypoplasia2LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0000782HP:0006633Glenoid fossa hypoplasia2LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0000782HP:0000882Hypoplastic scapulae2MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000782HP:0006591Absent glenoid fossa2MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000782HP:0000882Hypoplastic scapulae2NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defectsHP:0040283 - Occasional34
HP:0000782HP:0006591Absent glenoid fossa2ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0000782HP:0000911Flat glenoid fossa2ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0000782HP:0000882Hypoplastic scapulae2PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type IIHP:0040283 - Occasional531
HP:0000782HP:0000882Hypoplastic scapulae2POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0000782HP:0000882Hypoplastic scapulae2PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0000782HP:0000882Hypoplastic scapulae2RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 1HP:0040283 - Occasional69
HP:0000782HP:0000882Hypoplastic scapulae2RSPO2 CL E G H34041928583OMIM:618022Humerofemoral hypoplasia with radiotibial ray deficiency.
HP:0000782HP:0006591Absent glenoid fossa2RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000782HP:0000882Hypoplastic scapulae2RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000782HP:0000882Hypoplastic scapulae2RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040283 - Occasional90
HP:0000782HP:0000882Hypoplastic scapulae2RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0000782HP:0006633Glenoid fossa hypoplasia2SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11
HP:0000782HP:0000882Hypoplastic scapulae2SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0000782HP:0000882Hypoplastic scapulae2SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia.9
HP:0000782HP:0000882Hypoplastic scapulae2SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent9
HP:0000782HP:0000882Hypoplastic scapulae2SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0000782HP:0000882Hypoplastic scapulae2SOX9 CL E G H666211204ORPHA:140Campomelic dysplasia109
HP:0000782HP:0000882Hypoplastic scapulae2TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0000782HP:0000882Hypoplastic scapulae2TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasiaHP:0040280 - Obligate5
HP:0000782HP:0000882Hypoplastic scapulae2TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0000782HP:0000882Hypoplastic scapulae2TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA.133
HP:0000782HP:0000882Hypoplastic scapulae2WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly.136
HP:0000782HP:0006631Hypoplastic distal segments of scapulae3 CL E G H
HP:0000782HP:0006584Small abnormally formed scapulae3FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I.145
HP:0000782HP:0006584Small abnormally formed scapulae3FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II.145
HP:0000782HP:0006584Small abnormally formed scapulae3SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040281 - Very frequent109


Genes (167) :ACTA1 ACTB ADA ADA2 ALG14 ALG2 ANO5 ANXA11 ASH1L ATP6V0A2 BICD2 BIN1 BRAF C19ORF12 CAPN3 CCDC8 CDH2 COL11A1 COL11A2 COL12A1 COL2A1 COL3A1 COL6A1 COL6A2 COL6A3 COLQ CRPPA CSGALNACT1 CUL7 DLK1 DNM1L DPAGT1 DSTYK DYM DYSF EFNB1 EMD EMILIN1 EXT1 EXT2 EYA1 FBN1 FGFR1 FGFR3 FHL1 FIG4 FLNA FLNB FRG1 GATA1 GDF11 GDF3 GDF6 GFPT1 GMPPB GNE GNPTAB GPX4 GSC GYG1 HSPG2 INPPL1 KBTBD13 KCNJ2 KLHL41 LAMB2 LBR LEMD3 LGI4 LMNA LMX1B LRIF1 LYSET MAP3K7 MEG3 MEOX1 MYBPC1 MYH2 MYH7 MYPN NEB NEFL NPR2 NSDHL OBSL1 OPA1 ORC1 PAX1 PAX3 PCNT POGLUT1 POLG POMT2 POR PRR12 PSMB8 PTCH1 PTCH2 PTPN11 PYROXD1 RAF1 RIPK4 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RSPO2 RTL1 RUNX2 RYR1 SCARF2 SEPTIN9 SF3B4 SGCA SGCB SGCD SGCG SLC35D1 SMCHD1 SMPX SOST SOX9 SPEG SPRED2 SQSTM1 SUFU SYNE1 SYNE2 TBX15 TBX2 TBX3 TBX5 TGFB3 TK2 TMCO1 TMEM43 TNPO3 TPM2 TPM3 TRIO TRIP11 TRPS1 TRPV4 TSR2 TTN TWNK VAC14 VCP VWA1 WBP11 WDR35

Diseases (156) :ORPHA:171439 OMIM:616852 ORPHA:79107 OMIM:607371 OMIM:102700 ORPHA:124 ORPHA:353327 OMIM:616228 ORPHA:206549 OMIM:619733 OMIM:617796 OMIM:278250 OMIM:615290 ORPHA:169186 OMIM:255200 ORPHA:500 OMIM:614298 ORPHA:267 OMIM:618129 OMIM:253600 ORPHA:2616 OMIM:618929 ORPHA:440354 ORPHA:2021 OMIM:228520 ORPHA:610 OMIM:616471 ORPHA:85166 ORPHA:286 ORPHA:98915 ORPHA:352479 OMIM:616052 OMIM:618870 OMIM:273750 ORPHA:96334 ORPHA:98673 OMIM:270750 OMIM:223800 ORPHA:239 OMIM:607326 ORPHA:268 ORPHA:1520 OMIM:304110 ORPHA:98863 OMIM:620080 OMIM:133700 ORPHA:321 OMIM:133701 ORPHA:2792 OMIM:166780 OMIM:616914 OMIM:166250 OMIM:187600 OMIM:187601 OMIM:300696 OMIM:300695 ORPHA:3472 OMIM:216340 OMIM:305620 ORPHA:1826 OMIM:309350 OMIM:272460 OMIM:158900 OMIM:619122 ORPHA:2345 OMIM:118100 ORPHA:602 OMIM:252500 OMIM:250220 ORPHA:93317 OMIM:602471 OMIM:613507 ORPHA:800 ORPHA:3144 OMIM:170390 OMIM:215140 ORPHA:166119 OMIM:617468 ORPHA:98853 ORPHA:98855 OMIM:181350 OMIM:161200 OMIM:619477 OMIM:619345 OMIM:214300 OMIM:618524 OMIM:605637 ORPHA:437572 OMIM:608358 OMIM:617336 ORPHA:101085 ORPHA:40 OMIM:308050 OMIM:612921 OMIM:224690 OMIM:615560 ORPHA:894 OMIM:193500 OMIM:148820 OMIM:210720 OMIM:617232 ORPHA:254886 OMIM:607459 ORPHA:206559 ORPHA:95699 OMIM:619539 OMIM:256040 OMIM:109400 OMIM:151100 OMIM:617258 OMIM:263650 OMIM:612562 OMIM:618022 ORPHA:1452 OMIM:119600 ORPHA:424107 OMIM:600920 ORPHA:2901 ORPHA:1788 ORPHA:62 OMIM:608099 OMIM:604286 ORPHA:219 OMIM:601287 ORPHA:353 OMIM:269250 OMIM:158901 OMIM:301075 OMIM:269500 ORPHA:140 OMIM:114290 OMIM:619745 OMIM:617158 OMIM:260660 ORPHA:93333 OMIM:618223 ORPHA:3138 OMIM:181450 ORPHA:392 OMIM:615582 OMIM:617069 ORPHA:1394 OMIM:213980 OMIM:608423 OMIM:609285 OMIM:617061 OMIM:200600 OMIM:190350 OMIM:181405 OMIM:603689 ORPHA:329478 ORPHA:435387 OMIM:167320 OMIM:619216 OMIM:619227 OMIM:614091
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.