Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the scapula (HP:0000782)help
Grandparent Node:
expand
Aplasia/Hypoplasia involving bones of the thorax (HP:0006711)help
Parent Node:
expand
Aplasia/Hypoplasia of the scapulae (HP:0006713)help
..Starting node
..expand
Hypoplastic scapulae (HP:0000882)help
Term ID: 882
Name: Hypoplastic scapulae
Synonym: Hypoplastic scapula; Scapular hypoplasia; Short scapulae; Small scapula; Small scapulae; Small shoulder blade
Definition: Underdeveloped scapula.
Comments:
Reference: HP:0000882
Genes and Diseases:
 
       Child Nodes:
........expandSmall abnormally formed scapulae (HP:0006584) help
........expandHypoplastic distal segments of scapulae (HP:0006631) help

 Sister Nodes: 
..expandScapular aplasia (HP:0010317) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000882HP:0000882Hypoplastic scapulae0ACTB CL E G H6079107ORPHA165224132102630
HP:0000882HP:0000882Hypoplastic scapulae0ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM165224132102630
HP:0000882HP:0000882Hypoplastic scapulae0COL11A1 CL E G H1301440354ORPHA11065602186120280
HP:0000882HP:0000882Hypoplastic scapulae0COL11A1 CL E G H13012021ORPHA11065602186120280
HP:0000882HP:0000882Hypoplastic scapulae0COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0000882HP:0000882Hypoplastic scapulae0COL11A2 CL E G H13022021ORPHA1594712187120290
HP:0000882HP:0000882Hypoplastic scapulae0COL2A1 CL E G H128085166ORPHA15707312200120140
HP:0000882HP:0000882Hypoplastic scapulae0DYM CL E G H54808223800Dyggve-Melchior-Clausen syndrome223800C0265286OMIM13712421317607461
HP:0000882HP:0000882Hypoplastic scapulae0DYM CL E G H54808607326Smith-McCort dysplasia 1607326C1846431OMIM13712421317607461
HP:0000882HP:0000882Hypoplastic scapulae0FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0000882HP:0000882Hypoplastic scapulae0FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM127114723754300017
HP:0000882HP:0000882Hypoplastic scapulae0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM118846229670607840
HP:0000882HP:0000882Hypoplastic scapulae0GSC CL E G H145258602471Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities602471C1865361OMIM17364612138890
HP:0000882HP:0000882Hypoplastic scapulae0INPPL1 CL E G H36363144Krieble Bixler syndromeORPHA132636080600829
HP:0000882HP:0000882Hypoplastic scapulae0RSPO2 CL E G H340419618022HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY618022CN248526OMIM124128583610575
HP:0000882HP:0000882Hypoplastic scapulae0RUNX2 CL E G H860119600Cleidocranial dysostosis119600C0008928OMIM122018110472600211
HP:0000882HP:0000882Hypoplastic scapulae0SLC35D1 CL E G H231693144Krieble Bixler syndromeORPHA175320800610804
HP:0000882HP:0000882Hypoplastic scapulae0SLC35D1 CL E G H23169269250Schneckenbecken dysplasia269250C0432194OMIM175320800610804
HP:0000882HP:0000882Hypoplastic scapulae0SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM114915511204608160
HP:0000882HP:0000882Hypoplastic scapulae0TBX15 CL E G H691393333ORPHA153811594604127
HP:0000882HP:0000882Hypoplastic scapulae0TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM153811594604127
HP:0000882HP:0000882Hypoplastic scapulae0TBX3 CL E G H6926181450Ulnar-mammary syndrome181450C1866994OMIM12516511602601621
HP:0000882HP:0000882Hypoplastic scapulae0TRIP11 CL E G H9321200600Achondrogenesis, type IA200600C0265273OMIM11731512305604505
HP:0000882HP:0000882Hypoplastic scapulae0WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM13129229250613602
HP:0000882HP:0000882Hypoplastic scapulae1ACTB CL E G H6079107ORPHA165224132102630
HP:0000882HP:0000882Hypoplastic scapulae1ACTB CL E G H60607371Juvenile-onset dystonia607371C1846331OMIM165224132102630
HP:0000882HP:0000882Hypoplastic scapulae1COL11A1 CL E G H13012021ORPHA11065602186120280
HP:0000882HP:0000882Hypoplastic scapulae1COL11A1 CL E G H1301440354ORPHA11065602186120280
HP:0000882HP:0000882Hypoplastic scapulae1COL11A1 CL E G H1301228520Fibrochondrogenesis228520C0265282OMIM11065602186120280
HP:0000882HP:0000882Hypoplastic scapulae1COL11A2 CL E G H13022021ORPHA1594712187120290
HP:0000882HP:0000882Hypoplastic scapulae1COL2A1 CL E G H128085166ORPHA15707312200120140
HP:0000882HP:0000882Hypoplastic scapulae1DYM CL E G H54808223800Dyggve-Melchior-Clausen syndrome223800C0265286OMIM13712421317607461
HP:0000882HP:0000882Hypoplastic scapulae1DYM CL E G H54808607326Smith-McCort dysplasia 1607326C1846431OMIM13712421317607461
HP:0000882HP:0000882Hypoplastic scapulae1FGFR1 CL E G H2260166250Osteoglophonic dysplasia166250C0432283OMIM12653883688136350
HP:0000882HP:0000882Hypoplastic scapulae1FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM127114723754300017
HP:0000882HP:0000882Hypoplastic scapulae1GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM118846229670607840
HP:0000882HP:0000882Hypoplastic scapulae1GSC CL E G H145258602471Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities602471C1865361OMIM17364612138890
HP:0000882HP:0000882Hypoplastic scapulae1INPPL1 CL E G H36363144Krieble Bixler syndromeORPHA132636080600829
HP:0000882HP:0000882Hypoplastic scapulae1RSPO2 CL E G H340419618022HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY618022CN248526OMIM124128583610575
HP:0000882HP:0000882Hypoplastic scapulae1RUNX2 CL E G H860119600Cleidocranial dysostosis119600C0008928OMIM122018110472600211
HP:0000882HP:0000882Hypoplastic scapulae1SLC35D1 CL E G H231693144Krieble Bixler syndromeORPHA175320800610804
HP:0000882HP:0000882Hypoplastic scapulae1SLC35D1 CL E G H23169269250Schneckenbecken dysplasia269250C0432194OMIM175320800610804
HP:0000882HP:0000882Hypoplastic scapulae1SOX9 CL E G H6662114290Camptomelic dysplasia114290C1861922OMIM114915511204608160
HP:0000882HP:0000882Hypoplastic scapulae1TBX15 CL E G H691393333ORPHA153811594604127
HP:0000882HP:0000882Hypoplastic scapulae1TBX15 CL E G H6913260660Cousin syndrome260660C1850040OMIM153811594604127
HP:0000882HP:0000882Hypoplastic scapulae1TBX3 CL E G H6926181450Ulnar-mammary syndrome181450C1866994OMIM12516511602601621
HP:0000882HP:0000882Hypoplastic scapulae1TRIP11 CL E G H9321200600Achondrogenesis, type IA200600C0265273OMIM11731512305604505
HP:0000882HP:0000882Hypoplastic scapulae1WDR35 CL E G H57539614091Short rib polydactyly syndrome 5614091C3279792OMIM13129229250613602
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000882HP:0000882Hypoplastic scapulae0NSDHL CL E G H50814308050Child syndrome308050C0265267OMIM03125613398300275
HP:0000882HP:0000882Hypoplastic scapulae0PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM08888516068605925
HP:0000882HP:0000882Hypoplastic scapulae0RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM016222496605706
HP:0000882HP:0000882Hypoplastic scapulae0RUNX2 CL E G H8601452ORPHA022018110472600211
HP:0000882HP:0000882Hypoplastic scapulae1NSDHL CL E G H50814308050Child syndrome308050C0265267OMIM03125613398300275
HP:0000882HP:0000882Hypoplastic scapulae1PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM08888516068605925
HP:0000882HP:0000882Hypoplastic scapulae1RIPK4 CL E G H54101263650Popliteal pterygium syndrome lethal type263650C1849718OMIM016222496605706
HP:0000882HP:0000882Hypoplastic scapulae1RUNX2 CL E G H8601452ORPHA022018110472600211


Genes (22) :ACTB COL11A1 COL11A2 COL2A1 DYM FGFR1 FGFR3 FLNA GNPTAB GSC INPPL1 NSDHL PCNT RIPK4 RSPO2 RUNX2 SLC35D1 SOX9 TBX15 TBX3 TRIP11 WDR35

Diseases (29) :79107 607371 2021 440354 228520 85166 223800 607326 166250 309350 252500 602471 3144 308050 210720 263650 618022 1452 119600 269250 114290 93333 260660 181450 200600 614091 187600 187601 140
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.