Human Phenotype Ontology 
Grandparent Node:
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Abnormal axial skeleton morphology (HP:0009121)help
Parent Node:
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Abnormal appendicular skeleton morphology (HP:0011844)help
Parent Node:
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Abnormal thorax morphology (HP:0000765)help
..Starting node
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Abnormal shoulder morphology (HP:0003043)help
Term ID: 3043
Name: Abnormal shoulder morphology
Synonym: Abnormality of the shoulder
Definition: An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.
Comments:
Reference: HP:0003043
Genes and Diseases:
 
       Child Nodes:
........expandShoulder flexion contracture (HP:0003044) help
........expandShoulder dislocation (HP:0003834) help
................... HP:0003835 Shoulder subluxation
................... HP:0031610 Recurrent shoulder dislocation
........expandStippled calcification of the shoulder (HP:0003836) help
........expandLimited shoulder movement (HP:0006467) help
........expandScapulohumeral synostosis (HP:0006595) help
........expandInternally rotated shoulders (HP:0006659) help
........expandStiff shoulders (HP:0009742) help
........expandAbnormality of the glenoid fossa (HP:0011912) help
................... HP:0000911 Flat glenoid fossa
................... HP:0006591 Absent glenoid fossa
................... HP:0006633 Glenoid fossa hypoplasia
........expandShoulder impingement (HP:0030881) help
........expandDown-sloping shoulders (HP:0200021) help

 Sister Nodes: 
..expandAbnormal clavicle morphology (HP:0000889) help
..expandAbnormal rib cage morphology (HP:0001547) help
..expandAbnormal scapula morphology (HP:0000782) 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:0003043HP:0003043Abnormal shoulder morphology0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancy415
HP:0003043HP:0003043Abnormal shoulder morphology0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0003043HP:0003043Abnormal shoulder morphology0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2
HP:0003043HP:0003043Abnormal shoulder morphology0ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0003043HP:0003043Abnormal shoulder morphology0ARF1 CL E G H375652ORPHA:98892Periventricular nodular heterotopia
HP:0003043HP:0003043Abnormal shoulder morphology0ARFGEF2 CL E G H1056415853ORPHA:98892Periventricular nodular heterotopia179
HP:0003043HP:0003043Abnormal shoulder morphology0ATP7A CL E G H538869ORPHA:198Occipital horn syndrome192
HP:0003043HP:0003043Abnormal shoulder morphology0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0003043HP:0003043Abnormal shoulder morphology0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0003043HP:0003043Abnormal shoulder morphology0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0003043HP:0003043Abnormal shoulder morphology0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional101
HP:0003043HP:0003043Abnormal shoulder morphology0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0003043HP:0003043Abnormal shoulder morphology0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0003043HP:0003043Abnormal shoulder morphology0CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhoodHP:0040283 - Occasional
HP:0003043HP:0003043Abnormal shoulder morphology0CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional8
HP:0003043HP:0003043Abnormal shoulder morphology0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0003043HP:0003043Abnormal shoulder morphology0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0003043HP:0003043Abnormal shoulder morphology0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0003043HP:0003043Abnormal shoulder morphology0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0003043HP:0003043Abnormal shoulder morphology0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0003043HP:0003043Abnormal shoulder morphology0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndrome65
HP:0003043HP:0003043Abnormal shoulder morphology0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndrome373
HP:0003043HP:0003043Abnormal shoulder morphology0COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0003043HP:0003043Abnormal shoulder morphology0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndrome660
HP:0003043HP:0003043Abnormal shoulder morphology0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndrome325
HP:0003043HP:0003043Abnormal shoulder morphology0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0003043HP:0003043Abnormal shoulder morphology0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0003043HP:0003043Abnormal shoulder morphology0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0003043HP:0003043Abnormal shoulder morphology0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0003043HP:0003043Abnormal shoulder morphology0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0003043HP:0003043Abnormal shoulder morphology0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasia27
HP:0003043HP:0003043Abnormal shoulder morphology0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0003043HP:0003043Abnormal shoulder morphology0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0003043HP:0003043Abnormal shoulder morphology0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0003043HP:0003043Abnormal shoulder morphology0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0003043HP:0003043Abnormal shoulder morphology0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancy151
HP:0003043HP:0003043Abnormal shoulder morphology0ERMARD CL E G H5578021056ORPHA:98892Periventricular nodular heterotopia36
HP:0003043HP:0003043Abnormal shoulder morphology0EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndrome135
HP:0003043HP:0003043Abnormal shoulder morphology0EYA1 CL E G H21383519OMIM:166780Otofaciocervical syndrome135
HP:0003043HP:0003043Abnormal shoulder morphology0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0003043HP:0003043Abnormal shoulder morphology0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0003043HP:0003043Abnormal shoulder morphology0FLNA CL E G H23163754ORPHA:98892Periventricular nodular heterotopia493
HP:0003043HP:0003043Abnormal shoulder morphology0GDF3 CL E G H95734218ORPHA:2345Isolated Klippel-Feil syndromeHP:0040282 - Frequent7
HP:0003043HP:0003043Abnormal shoulder morphology0GDF6 CL E G H3922554221ORPHA:2345Isolated Klippel-Feil syndromeHP:0040282 - Frequent64
HP:0003043HP:0003043Abnormal shoulder morphology0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003043HP:0003043Abnormal shoulder morphology0GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities3
HP:0003043HP:0003043Abnormal shoulder morphology0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0003043HP:0003043Abnormal shoulder morphology0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0003043HP:0003043Abnormal shoulder morphology0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0003043HP:0003043Abnormal shoulder morphology0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndromeHP:0040281 - Very frequent
HP:0003043HP:0003043Abnormal shoulder morphology0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0003043HP:0003043Abnormal shoulder morphology0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0003043HP:0003043Abnormal shoulder morphology0IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional65
HP:0003043HP:0003043Abnormal shoulder morphology0IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0003043HP:0003043Abnormal shoulder morphology0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0003043HP:0003043Abnormal shoulder morphology0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003043HP:0003043Abnormal shoulder morphology0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0003043HP:0003043Abnormal shoulder morphology0LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect6
HP:0003043HP:0003043Abnormal shoulder morphology0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0003043HP:0003043Abnormal shoulder morphology0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0003043HP:0003043Abnormal shoulder morphology0LMNA CL E G H40006636OMIM:212112Malouf syndrome645
HP:0003043HP:0003043Abnormal shoulder morphology0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0003043HP:0003043Abnormal shoulder morphology0LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0003043HP:0003043Abnormal shoulder morphology0LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0003043HP:0003043Abnormal shoulder morphology0MAP1B CL E G H41316836ORPHA:98892Periventricular nodular heterotopia
HP:0003043HP:0003043Abnormal shoulder morphology0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0003043HP:0003043Abnormal shoulder morphology0MEOX1 CL E G H42227013ORPHA:2345Isolated Klippel-Feil syndromeHP:0040282 - Frequent5
HP:0003043HP:0003043Abnormal shoulder morphology0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0003043HP:0003043Abnormal shoulder morphology0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0003043HP:0003043Abnormal shoulder morphology0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0003043HP:0003043Abnormal shoulder morphology0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0003043HP:0003043Abnormal shoulder morphology0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003043HP:0003043Abnormal shoulder morphology0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040283 - Occasional23
HP:0003043HP:0003043Abnormal shoulder morphology0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0003043HP:0003043Abnormal shoulder morphology0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0003043HP:0003043Abnormal shoulder morphology0NEDD4L CL E G H233277728ORPHA:98892Periventricular nodular heterotopia30
HP:0003043HP:0003043Abnormal shoulder morphology0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0003043HP:0003043Abnormal shoulder morphology0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0003043HP:0003043Abnormal shoulder morphology0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0003043HP:0003043Abnormal shoulder morphology0PAX1 CL E G H50758615ORPHA:2792Otofaciocervical syndrome3
HP:0003043HP:0003043Abnormal shoulder morphology0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0003043HP:0003043Abnormal shoulder morphology0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 377
HP:0003043HP:0003043Abnormal shoulder morphology0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 22
HP:0003043HP:0003043Abnormal shoulder morphology0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome2
HP:0003043HP:0003043Abnormal shoulder morphology0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0003043HP:0003043Abnormal shoulder morphology0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0003043HP:0003043Abnormal shoulder morphology0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0003043HP:0003043Abnormal shoulder morphology0PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0003043HP:0003043Abnormal shoulder morphology0PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional3
HP:0003043HP:0003043Abnormal shoulder morphology0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0003043HP:0003043Abnormal shoulder morphology0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0003043HP:0003043Abnormal shoulder morphology0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0003043HP:0003043Abnormal shoulder morphology0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003043HP:0003043Abnormal shoulder morphology0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0003043HP:0003043Abnormal shoulder morphology0SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0003043HP:0003043Abnormal shoulder morphology0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0003043HP:0003043Abnormal shoulder morphology0SPRTN CL E G H8393225356OMIM:616200Ruijs-Aalfs syndrome3
HP:0003043HP:0003043Abnormal shoulder morphology0STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0003043HP:0003043Abnormal shoulder morphology0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0003043HP:0003043Abnormal shoulder morphology0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0003043HP:0003043Abnormal shoulder morphology0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0003043HP:0003043Abnormal shoulder morphology0TBX5 CL E G H691011604ORPHA:392Holt-Oram syndrome123
HP:0003043HP:0003043Abnormal shoulder morphology0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0003043HP:0003043Abnormal shoulder morphology0TMTC3 CL E G H16041826899ORPHA:98892Periventricular nodular heterotopia5
HP:0003043HP:0003043Abnormal shoulder morphology0TNNT1 CL E G H713811948ORPHA:98902Amish nemaline myopathy37
HP:0003043HP:0003043Abnormal shoulder morphology0TNNT1 CL E G H713811948OMIM:605355NEMALINE MYOPATHY 5; NEM537
HP:0003043HP:0003043Abnormal shoulder morphology0TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040282 - Frequent46
HP:0003043HP:0003043Abnormal shoulder morphology0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome7
HP:0003043HP:0003043Abnormal shoulder morphology0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0003043HP:0003043Abnormal shoulder morphology0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0003043HP:0041217Fractured shoulder1 CL E G H
HP:0003043HP:0032201Rotator cuff tear1 CL E G H
HP:0003043HP:0003836Stippled calcification of the shoulder1ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional415
HP:0003043HP:0003834Shoulder dislocation1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0003043HP:0003834Shoulder dislocation1AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0003043HP:0003834Shoulder dislocation1ARF1 CL E G H375652ORPHA:98892Periventricular nodular heterotopiaHP:0040283 - Occasional
HP:0003043HP:0003834Shoulder dislocation1ARFGEF2 CL E G H1056415853ORPHA:98892Periventricular nodular heterotopiaHP:0040283 - Occasional179
HP:0003043HP:0200021Down-sloping shoulders1ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040283 - Occasional192
HP:0003043HP:0003834Shoulder dislocation1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional5
HP:0003043HP:0200021Down-sloping shoulders1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003043HP:0200021Down-sloping shoulders1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003043HP:0200021Down-sloping shoulders1BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0003043HP:0200021Down-sloping shoulders1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003043HP:0200021Down-sloping shoulders1CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0003043HP:0200021Down-sloping shoulders1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0003043HP:0003834Shoulder dislocation1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional165
HP:0003043HP:0003834Shoulder dislocation1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0003043HP:0200021Down-sloping shoulders1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003043HP:0003044Shoulder flexion contracture1COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0003043HP:0003834Shoulder dislocation1COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0003043HP:0003834Shoulder dislocation1COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndrome243
HP:0003043HP:0003834Shoulder dislocation1COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0003043HP:0003834Shoulder dislocation1COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0003043HP:0200021Down-sloping shoulders1CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0003043HP:0011912Abnormality of the glenoid fossa1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0003043HP:0200021Down-sloping shoulders1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003043HP:0011912Abnormality of the glenoid fossa1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0003043HP:0011912Abnormality of the glenoid fossa1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0003043HP:0200021Down-sloping shoulders1EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0003043HP:0200021Down-sloping shoulders1EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0003043HP:0200021Down-sloping shoulders1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003043HP:0200021Down-sloping shoulders1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0003043HP:0200021Down-sloping shoulders1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0003043HP:0003836Stippled calcification of the shoulder1ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040283 - Occasional151
HP:0003043HP:0003834Shoulder dislocation1ERMARD CL E G H5578021056ORPHA:98892Periventricular nodular heterotopiaHP:0040283 - Occasional36
HP:0003043HP:0200021Down-sloping shoulders1EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent135
HP:0003043HP:0200021Down-sloping shoulders1EYA1 CL E G H21383519OMIM:166780Otofaciocervical syndrome.135
HP:0003043HP:0200021Down-sloping shoulders1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0003043HP:0200021Down-sloping shoulders1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003043HP:0003834Shoulder dislocation1FLNA CL E G H23163754ORPHA:98892Periventricular nodular heterotopiaHP:0040283 - Occasional493
HP:0003043HP:0006659Internally rotated shoulders1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003043HP:0006595Scapulohumeral synostosis1GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities.3
HP:0003043HP:0200021Down-sloping shoulders1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0003043HP:0200021Down-sloping shoulders1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0003043HP:0200021Down-sloping shoulders1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0003043HP:0003044Shoulder flexion contracture1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0003043HP:0003044Shoulder flexion contracture1HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0003043HP:0200021Down-sloping shoulders1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome.4
HP:0003043HP:0003044Shoulder flexion contracture1JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003043HP:0003044Shoulder flexion contracture1KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0003043HP:0006659Internally rotated shoulders1LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect.6
HP:0003043HP:0200021Down-sloping shoulders1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003043HP:0200021Down-sloping shoulders1LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0003043HP:0200021Down-sloping shoulders1LMNA CL E G H40006636OMIM:212112Malouf syndrome.645
HP:0003043HP:0200021Down-sloping shoulders1LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0003043HP:0011912Abnormality of the glenoid fossa1LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome165
HP:0003043HP:0011912Abnormality of the glenoid fossa1LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0003043HP:0003834Shoulder dislocation1MAP1B CL E G H41316836ORPHA:98892Periventricular nodular heterotopiaHP:0040283 - Occasional
HP:0003043HP:0011912Abnormality of the glenoid fossa1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0003043HP:0200021Down-sloping shoulders1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0003043HP:0200021Down-sloping shoulders1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0003043HP:0200021Down-sloping shoulders1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0003043HP:0003044Shoulder flexion contracture1MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0003043HP:0003044Shoulder flexion contracture1MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003043HP:0200021Down-sloping shoulders1NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0003043HP:0200021Down-sloping shoulders1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0003043HP:0003834Shoulder dislocation1NEDD4L CL E G H233277728ORPHA:98892Periventricular nodular heterotopiaHP:0040283 - Occasional30
HP:0003043HP:0003834Shoulder dislocation1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0003043HP:0011912Abnormality of the glenoid fossa1ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 153
HP:0003043HP:0200021Down-sloping shoulders1OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0003043HP:0200021Down-sloping shoulders1PAX1 CL E G H50758615ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent3
HP:0003043HP:0200021Down-sloping shoulders1PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0003043HP:0200021Down-sloping shoulders1PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0003043HP:0200021Down-sloping shoulders1PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 2HP:0040283 - Occasional2
HP:0003043HP:0200021Down-sloping shoulders1PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0003043HP:0200021Down-sloping shoulders1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0003043HP:0200021Down-sloping shoulders1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0003043HP:0200021Down-sloping shoulders1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003043HP:0003044Shoulder flexion contracture1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0003043HP:0011912Abnormality of the glenoid fossa1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003043HP:0200021Down-sloping shoulders1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040281 - Very frequent90
HP:0003043HP:0003834Shoulder dislocation1SALL4 CL E G H5716715924OMIM:607323Duane-Radial ray syndrome86
HP:0003043HP:0011912Abnormality of the glenoid fossa1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0003043HP:0200021Down-sloping shoulders1SPRTN CL E G H8393225356OMIM:616200Ruijs-Aalfs syndrome.3
HP:0003043HP:0200021Down-sloping shoulders1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003043HP:0200021Down-sloping shoulders1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0003043HP:0200021Down-sloping shoulders1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003043HP:0200021Down-sloping shoulders1TBX5 CL E G H691011604ORPHA:392Holt-Oram syndromeHP:0040283 - Occasional123
HP:0003043HP:0200021Down-sloping shoulders1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003043HP:0003834Shoulder dislocation1TMTC3 CL E G H16041826899ORPHA:98892Periventricular nodular heterotopiaHP:0040283 - Occasional5
HP:0003043HP:0003044Shoulder flexion contracture1TNNT1 CL E G H713811948ORPHA:98902Amish nemaline myopathyHP:0040282 - Frequent37
HP:0003043HP:0003044Shoulder flexion contracture1TNNT1 CL E G H713811948OMIM:605355NEMALINE MYOPATHY 5; NEM537
HP:0003043HP:0200021Down-sloping shoulders1TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0003043HP:0200021Down-sloping shoulders1TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0003043HP:0200021Down-sloping shoulders1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0003043HP:0031610Recurrent shoulder dislocation2COL1A2 CL E G H12782198ORPHA:230851Cardiac-valvular Ehlers-Danlos syndromeHP:0040283 - Occasional243
HP:0003043HP:0006591Absent glenoid fossa2DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0003043HP:0000911Flat glenoid fossa2DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0003043HP:0006633Glenoid fossa hypoplasia2DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0003043HP:0006633Glenoid fossa hypoplasia2LMX1B CL E G H40106654OMIM:161200Nail-Patella syndrome.165
HP:0003043HP:0006633Glenoid fossa hypoplasia2LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0003043HP:0006591Absent glenoid fossa2MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0003043HP:0006591Absent glenoid fossa2ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0003043HP:0000911Flat glenoid fossa2ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0003043HP:0006591Absent glenoid fossa2RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0003043HP:0006633Glenoid fossa hypoplasia2SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome.11


Genes (96) :ABCC6 AEBP1 ANKRD55 ARF1 ARFGEF2 ATP7A B3GAT3 BAZ1B BCL7B BCOR BUD23 CCN6 CD247 CHD7 CHRNG CHST3 CLIP2 COL12A1 COL1A1 COL1A2 COL5A1 COL5A2 CUL4B DLK1 DNAJC30 DYM EFNB1 EIF4H ELN ENPP1 ERMARD EYA1 FIG4 FKBP6 FLNA GDF3 GDF6 GNB2 GSC GTF2I GTF2IRD1 GTF2IRD2 HHAT HSPG2 IL2RA IL2RB IRX5 JAG2 KY LGI4 LIMK1 LMBRD2 LMNA LMX1B LYSET MAP1B MEG3 MEOX1 METTL27 MLXIPL MYH3 MYL11 NAA10 NCF1 NEDD4L NGLY1 ORC1 OTUD6B PAX1 PIEZO2 PPP1R15B PRNP PTCH1 PTCH2 PTPN2 PTPN22 RBM8A RFC2 RNU4ATAC RTL1 RUNX2 SALL4 SCARF2 SPRTN STAT4 STX1A SUFU TBL2 TBX5 TMEM270 TMTC3 TNNT1 TRAPPC2 TRMT10A TRPV4 VPS37D

Diseases (64) :ORPHA:51608 ORPHA:536532 OMIM:618000 ORPHA:85408 ORPHA:98892 ORPHA:198 OMIM:245600 ORPHA:904 ORPHA:568 OMIM:309800 ORPHA:1159 OMIM:214800 OMIM:265000 OMIM:143095 ORPHA:536516 ORPHA:287 ORPHA:230851 ORPHA:85293 ORPHA:96334 OMIM:223800 ORPHA:239 ORPHA:1520 OMIM:304110 OMIM:194050 ORPHA:2792 OMIM:166780 OMIM:216340 ORPHA:2345 OMIM:619503 OMIM:602471 ORPHA:1422 ORPHA:800 OMIM:255800 OMIM:611174 OMIM:619566 OMIM:617114 OMIM:617468 OMIM:619694 OMIM:212112 OMIM:248370 OMIM:161200 OMIM:619345 OMIM:193700 OMIM:619110 ORPHA:404454 OMIM:224690 OMIM:617452 OMIM:615560 OMIM:114300 OMIM:616817 ORPHA:391408 ORPHA:157941 OMIM:109400 OMIM:274000 OMIM:210710 ORPHA:1452 OMIM:607323 OMIM:600920 OMIM:616200 ORPHA:392 ORPHA:98902 OMIM:605355 ORPHA:93284 OMIM:606071
 

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