Human Phenotype Ontology 
Grandparent Node:
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Abnormal thorax morphology (HP:0000765)help
Grandparent Node:
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Aplasia/hypoplasia affecting bones of the axial skeleton (HP:0009122)help
Parent Node:
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Abnormal scapula morphology (HP:0000782)help
Parent Node:
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Aplasia/Hypoplasia involving bones of the thorax (HP:0006711)help
..Starting node
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Aplasia/Hypoplasia of the scapulae (HP:0006713)help
Term ID: 6713
Name: Aplasia/Hypoplasia of the scapulae
Synonym: Absent/small shoulder blade; Absent/underdeveloped shoulder blade
Definition:
Comments:
Reference: HP:0006713
Genes and Diseases:
 
       Child Nodes:
........expandHypoplastic scapulae (HP:0000882) help
................... HP:0006584 Small abnormally formed scapulae
................... HP:0006631 Hypoplastic distal segments of scapulae
........expandScapular aplasia (HP:0010317) help

 Sister Nodes: 
..expandAplasia/Hypoplasia of the clavicles (HP:0006710) help
..expandAplasia/Hypoplasia of the ribs (HP:0006712) help
..expandAplasia/Hypoplasia of the sternum (HP:0006714) 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:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndrome72
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome215
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0COL11A1 CL E G H13012186ORPHA:2021Fibrochondrogenesis215
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0COL11A2 CL E G H13022187ORPHA:2021Fibrochondrogenesis222
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance type284
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0DYM CL E G H5480821317OMIM:607326Smith-Mccort dysplasia 165
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia172
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II145
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional111
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome493
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities3
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasia18
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0RSPO2 CL E G H34041928583OMIM:618022Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasia9
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasia109
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasia5
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome100
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional6
HP:0006713HP:0006713Aplasia/Hypoplasia of the scapulae0WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly136
HP:0006713HP:0010317Scapular aplasia1 CL E G H
HP:0006713HP:0000882Hypoplastic scapulae1ACTB CL E G H60132ORPHA:79107Developmental malformations-deafness-dystonia syndromeHP:0040281 - Very frequent72
HP:0006713HP:0000882Hypoplastic scapulae1ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset.72
HP:0006713HP:0000882Hypoplastic scapulae1COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeHP:0040282 - Frequent215
HP:0006713HP:0000882Hypoplastic scapulae1COL11A1 CL E G H13012186ORPHA:2021FibrochondrogenesisHP:0040282 - Frequent215
HP:0006713HP:0000882Hypoplastic scapulae1COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0006713HP:0000882Hypoplastic scapulae1COL11A2 CL E G H13022187ORPHA:2021FibrochondrogenesisHP:0040282 - Frequent222
HP:0006713HP:0000882Hypoplastic scapulae1COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance typeHP:0040282 - Frequent284
HP:0006713HP:0000882Hypoplastic scapulae1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0006713HP:0000882Hypoplastic scapulae1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0006713HP:0000882Hypoplastic scapulae1DYM CL E G H5480821317OMIM:607326Smith-Mccort dysplasia 1.65
HP:0006713HP:0000882Hypoplastic scapulae1FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0006713HP:0000882Hypoplastic scapulae1FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0006713HP:0000882Hypoplastic scapulae1FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II145
HP:0006713HP:0000882Hypoplastic scapulae1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0006713HP:0000882Hypoplastic scapulae1FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0006713HP:0000882Hypoplastic scapulae1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0006713HP:0000882Hypoplastic scapulae1GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities.3
HP:0006713HP:0000882Hypoplastic scapulae1INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent18
HP:0006713HP:0000882Hypoplastic scapulae1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0006713HP:0000882Hypoplastic scapulae1NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defectsHP:0040283 - Occasional34
HP:0006713HP:0000882Hypoplastic scapulae1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type IIHP:0040283 - Occasional531
HP:0006713HP:0000882Hypoplastic scapulae1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0006713HP:0000882Hypoplastic scapulae1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0006713HP:0000882Hypoplastic scapulae1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 1HP:0040283 - Occasional69
HP:0006713HP:0000882Hypoplastic scapulae1RSPO2 CL E G H34041928583OMIM:618022Humerofemoral hypoplasia with radiotibial ray deficiency.
HP:0006713HP:0000882Hypoplastic scapulae1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0006713HP:0000882Hypoplastic scapulae1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0006713HP:0000882Hypoplastic scapulae1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040283 - Occasional90
HP:0006713HP:0000882Hypoplastic scapulae1SCARF2 CL E G H9117919869OMIM:600920Van den Ende-Gupta syndrome11
HP:0006713HP:0000882Hypoplastic scapulae1SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia.9
HP:0006713HP:0000882Hypoplastic scapulae1SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent9
HP:0006713HP:0000882Hypoplastic scapulae1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0006713HP:0000882Hypoplastic scapulae1SOX9 CL E G H666211204ORPHA:140Campomelic dysplasia109
HP:0006713HP:0000882Hypoplastic scapulae1TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0006713HP:0000882Hypoplastic scapulae1TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasiaHP:0040280 - Obligate5
HP:0006713HP:0000882Hypoplastic scapulae1TBX3 CL E G H692611602OMIM:181450Ulnar-Mammary syndrome.100
HP:0006713HP:0000882Hypoplastic scapulae1TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA.133
HP:0006713HP:0000882Hypoplastic scapulae1WDR35 CL E G H5753929250OMIM:614091Short-Rib thoracic dysplasia 7 with or without polydactyly.136
HP:0006713HP:0006631Hypoplastic distal segments of scapulae2 CL E G H
HP:0006713HP:0006584Small abnormally formed scapulae2FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I.145
HP:0006713HP:0006584Small abnormally formed scapulae2FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II.145
HP:0006713HP:0006584Small abnormally formed scapulae2SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040281 - Very frequent109


Genes (30) :ACTB COL11A1 COL11A2 COL2A1 DLK1 DYM FGFR1 FGFR3 FIG4 FLNA GNPTAB GSC INPPL1 MEG3 NSDHL PCNT POR PSMB8 RIPK4 RSPO2 RTL1 RUNX2 SCARF2 SLC35D1 SOX9 TBX15 TBX3 TRIP11 VAC14 WDR35

Diseases (35) :ORPHA:79107 OMIM:607371 ORPHA:440354 ORPHA:2021 OMIM:228520 ORPHA:85166 ORPHA:96334 OMIM:223800 OMIM:607326 OMIM:166250 OMIM:187600 OMIM:187601 ORPHA:3472 OMIM:216340 OMIM:309350 OMIM:252500 OMIM:602471 ORPHA:3144 OMIM:308050 OMIM:210720 ORPHA:95699 OMIM:256040 OMIM:263650 OMIM:618022 ORPHA:1452 OMIM:119600 OMIM:600920 OMIM:269250 ORPHA:140 OMIM:114290 OMIM:260660 ORPHA:93333 OMIM:181450 OMIM:200600 OMIM:614091
 

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