Human Phenotype Ontology 
Grandparent Node:
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Abnormal appendicular skeleton morphology (HP:0011844)help
Grandparent Node:
expand
Abnormal thorax morphology (HP:0000765)help
Parent Node:
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Abnormal shoulder morphology (HP:0003043)help
..Starting node
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Down-sloping shoulders (HP:0200021)help
Term ID: 200021
Name: Down-sloping shoulders
Synonym: Down-sloping shoulders; Rounded shoulders; Rounded, sloping shoulders; Sloping shoulders
Definition: Low set, steeply sloping shoulders.
Comments:
Reference: HP:0200021
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of the glenoid fossa (HP:0011912) help
..expandInternally rotated shoulders (HP:0006659) help
..expandLimited shoulder movement (HP:0006467) help
..expandScapulohumeral synostosis (HP:0006595) help
..expandShoulder dislocation (HP:0003834) help
..expandShoulder flexion contracture (HP:0003044) help
..expandShoulder impingement (HP:0030881) help
..expandStiff shoulders (HP:0009742) help
..expandStippled calcification of the shoulder (HP:0003836) 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:0200021HP:0200021Down-sloping shoulders0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040283 - Occasional192
HP:0200021HP:0200021Down-sloping shoulders0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0200021HP:0200021Down-sloping shoulders0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0200021HP:0200021Down-sloping shoulders0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0200021HP:0200021Down-sloping shoulders0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0200021HP:0200021Down-sloping shoulders0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0200021HP:0200021Down-sloping shoulders0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0200021HP:0200021Down-sloping shoulders0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0200021HP:0200021Down-sloping shoulders0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0200021HP:0200021Down-sloping shoulders0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0200021HP:0200021Down-sloping shoulders0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0200021HP:0200021Down-sloping shoulders0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0200021HP:0200021Down-sloping shoulders0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0200021HP:0200021Down-sloping shoulders0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0200021HP:0200021Down-sloping shoulders0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0200021HP:0200021Down-sloping shoulders0EYA1 CL E G H21383519ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent135
HP:0200021HP:0200021Down-sloping shoulders0EYA1 CL E G H21383519OMIM:166780Otofaciocervical syndrome.135
HP:0200021HP:0200021Down-sloping shoulders0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0200021HP:0200021Down-sloping shoulders0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0200021HP:0200021Down-sloping shoulders0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0200021HP:0200021Down-sloping shoulders0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0200021HP:0200021Down-sloping shoulders0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0200021HP:0200021Down-sloping shoulders0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome.4
HP:0200021HP:0200021Down-sloping shoulders0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0200021HP:0200021Down-sloping shoulders0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0200021HP:0200021Down-sloping shoulders0LMNA CL E G H40006636OMIM:212112Malouf syndrome.645
HP:0200021HP:0200021Down-sloping shoulders0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0200021HP:0200021Down-sloping shoulders0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0200021HP:0200021Down-sloping shoulders0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0200021HP:0200021Down-sloping shoulders0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0200021HP:0200021Down-sloping shoulders0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0200021HP:0200021Down-sloping shoulders0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0200021HP:0200021Down-sloping shoulders0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0200021HP:0200021Down-sloping shoulders0PAX1 CL E G H50758615ORPHA:2792Otofaciocervical syndromeHP:0040281 - Very frequent3
HP:0200021HP:0200021Down-sloping shoulders0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0200021HP:0200021Down-sloping shoulders0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0200021HP:0200021Down-sloping shoulders0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 2HP:0040283 - Occasional2
HP:0200021HP:0200021Down-sloping shoulders0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0200021HP:0200021Down-sloping shoulders0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0200021HP:0200021Down-sloping shoulders0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0200021HP:0200021Down-sloping shoulders0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0200021HP:0200021Down-sloping shoulders0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040281 - Very frequent90
HP:0200021HP:0200021Down-sloping shoulders0SPRTN CL E G H8393225356OMIM:616200Ruijs-Aalfs syndrome.3
HP:0200021HP:0200021Down-sloping shoulders0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0200021HP:0200021Down-sloping shoulders0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0200021HP:0200021Down-sloping shoulders0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0200021HP:0200021Down-sloping shoulders0TBX5 CL E G H691011604ORPHA:392Holt-Oram syndromeHP:0040283 - Occasional123
HP:0200021HP:0200021Down-sloping shoulders0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0200021HP:0200021Down-sloping shoulders0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0200021HP:0200021Down-sloping shoulders0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0200021HP:0200021Down-sloping shoulders0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent


Genes (44) :ATP7A BAZ1B BCL7B BCOR BUD23 CHD7 CHRNG CLIP2 CUL4B DNAJC30 EFNB1 EIF4H ELN EYA1 FIG4 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 IRX5 LIMK1 LMBRD2 LMNA METTL27 MLXIPL NAA10 NCF1 OTUD6B PAX1 PIEZO2 PPP1R15B PTCH1 PTCH2 RFC2 RUNX2 SPRTN STX1A SUFU TBL2 TBX5 TMEM270 TRMT10A TRPV4 VPS37D

Diseases (26) :ORPHA:198 ORPHA:904 OMIM:309800 OMIM:214800 OMIM:265000 ORPHA:85293 ORPHA:1520 OMIM:304110 OMIM:194050 ORPHA:2792 OMIM:166780 OMIM:216340 OMIM:611174 OMIM:619694 OMIM:212112 OMIM:248370 OMIM:617452 OMIM:615560 OMIM:114300 OMIM:616817 ORPHA:391408 OMIM:109400 ORPHA:1452 OMIM:616200 ORPHA:392 OMIM:606071
 

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