Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the clavicle (HP:0000889)help
Grandparent Node:
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Aplasia/Hypoplasia involving bones of the thorax (HP:0006711)help
Parent Node:
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Aplasia/Hypoplasia of the clavicles (HP:0006710)help
..Starting node
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Short clavicles (HP:0000894)help
Term ID: 894
Name: Short clavicles
Synonym: Clavicular hypoplasia; Hypoplastic clavicles; Short collarbone; Underdeveloped clavicles
Definition: Reduced length of the clavicles.
Comments:
Reference: HP:0000894
Genes and Diseases:
 
       Child Nodes:
........expandMidclavicular hypoplasia (HP:0006608) help

 Sister Nodes: 
..expandAplastic clavicle (HP:0006660) help
..expandCongenital pseudoarthrosis of the clavicle (HP:0006585) help
..expandMidclavicular aplasia (HP:0006638) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000894HP:0000894Short clavicles0ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM1357607869300011
HP:0000894HP:0000894Short clavicles0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM19138930604327
HP:0000894HP:0000894Short clavicles0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0000894HP:0000894Short clavicles0BGN CL E G H633300106Spondyloepimetaphyseal dysplasia X-linked300106C1848097OMIM192261044301870
HP:0000894HP:0000894Short clavicles0DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0000894HP:0000894Short clavicles0DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM11417324595617083
HP:0000894HP:0000894Short clavicles0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0000894HP:0000894Short clavicles0FGFR2 CL E G H2263313855ORPHA11593363689176943
HP:0000894HP:0000894Short clavicles0FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM11593363689176943
HP:0000894HP:0000894Short clavicles0FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0000894HP:0000894Short clavicles0FLNA CL E G H23162484Glaucoma type 1CORPHA127114723754300017
HP:0000894HP:0000894Short clavicles0FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM127114723754300017
HP:0000894HP:0000894Short clavicles0HOXD13 CL E G H3239113300Brachydactyly type E1113300C1862102OMIM142715136142989
HP:0000894HP:0000894Short clavicles0IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM12916225391252800
HP:0000894HP:0000894Short clavicles0LMNA CL E G H4000740Aortic arch interruptionORPHA157411526636150330
HP:0000894HP:0000894Short clavicles0LMNA CL E G H4000212112Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome212112C0796031OMIM157411526636150330
HP:0000894HP:0000894Short clavicles0LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM157411526636150330
HP:0000894HP:0000894Short clavicles0MSX2 CL E G H4488168550Parietal foramina with cleidocranial dysplasia168550C1868597OMIM1261057392123101
HP:0000894HP:0000894Short clavicles0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0000894HP:0000894Short clavicles0PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0000894HP:0000894Short clavicles0RSPO2 CL E G H340419618022HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY618022CN248526OMIM124128583610575
HP:0000894HP:0000894Short clavicles0RUNX2 CL E G H8601452ORPHA122018110472600211
HP:0000894HP:0000894Short clavicles0RUNX2 CL E G H860119600Cleidocranial dysostosis119600C0008928OMIM122018110472600211
HP:0000894HP:0000894Short clavicles0SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA14424516974611421
HP:0000894HP:0000894Short clavicles0TBX3 CL E G H6926181450Ulnar-mammary syndrome181450C1866994OMIM12516511602601621
HP:0000894HP:0000894Short clavicles0TRIP11 CL E G H9321200600Achondrogenesis, type IA200600C0265273OMIM11731512305604505
HP:0000894HP:0000894Short clavicles0TWIST1 CL E G H7291617746SWEENEY-COX SYNDROME617746C4540299OMIM120911512428601622
HP:0000894HP:0000894Short clavicles0XYLT1 CL E G H64131615777Desbuquois dysplasia 2615777C4014294OMIM12316715516608124
HP:0000894HP:0000894Short clavicles0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA13413612877606480
HP:0000894HP:0000894Short clavicles0ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM13413612877606480
HP:0000894HP:0000894Short clavicles1ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM1357607869300011
HP:0000894HP:0000894Short clavicles1B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM19138930604327
HP:0000894HP:0000894Short clavicles1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0000894HP:0000894Short clavicles1BGN CL E G H633300106Spondyloepimetaphyseal dysplasia X-linked300106C1848097OMIM192261044301870
HP:0000894HP:0000894Short clavicles1DCHS1 CL E G H8642601390601390601390OMIM12418013681603057
HP:0000894HP:0000894Short clavicles1DYNC2LI1 CL E G H51626617088Short-rib thoracic dysplasia 15 with polydactyly617088C4310724OMIM11417324595617083
HP:0000894HP:0000894Short clavicles1FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM13731723109612411
HP:0000894HP:0000894Short clavicles1FGFR2 CL E G H2263313855ORPHA11593363689176943
HP:0000894HP:0000894Short clavicles1FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM11593363689176943
HP:0000894HP:0000894Short clavicles1FIG4 CL E G H9896216340Yunis Varon syndrome216340C1857663OMIM17142516873609390
HP:0000894HP:0000894Short clavicles1FLNA CL E G H23162484Glaucoma type 1CORPHA127114723754300017
HP:0000894HP:0000894Short clavicles1FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM127114723754300017
HP:0000894HP:0000894Short clavicles1HOXD13 CL E G H3239113300Brachydactyly type E1113300C1862102OMIM142715136142989
HP:0000894HP:0000894Short clavicles1IDUA CL E G H3425607014Dysostosis multiplex607014C0086795OMIM12916225391252800
HP:0000894HP:0000894Short clavicles1LMNA CL E G H4000740Aortic arch interruptionORPHA157411526636150330
HP:0000894HP:0000894Short clavicles1LMNA CL E G H4000212112Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome212112C0796031OMIM157411526636150330
HP:0000894HP:0000894Short clavicles1LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM157411526636150330
HP:0000894HP:0000894Short clavicles1MSX2 CL E G H4488168550Parietal foramina with cleidocranial dysplasia168550C1868597OMIM1261057392123101
HP:0000894HP:0000894Short clavicles1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0000894HP:0000894Short clavicles1PORCN CL E G H648402092EhrlichiosisORPHA112121017652300651
HP:0000894HP:0000894Short clavicles1RSPO2 CL E G H340419618022HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY618022CN248526OMIM124128583610575
HP:0000894HP:0000894Short clavicles1RUNX2 CL E G H8601452ORPHA122018110472600211
HP:0000894HP:0000894Short clavicles1RUNX2 CL E G H860119600Cleidocranial dysostosis119600C0008928OMIM122018110472600211
HP:0000894HP:0000894Short clavicles1SRCAP CL E G H108472044Ectodermal dysplasia Berlin typeORPHA14424516974611421
HP:0000894HP:0000894Short clavicles1TBX3 CL E G H6926181450Ulnar-mammary syndrome181450C1866994OMIM12516511602601621
HP:0000894HP:0000894Short clavicles1TRIP11 CL E G H9321200600Achondrogenesis, type IA200600C0265273OMIM11731512305604505
HP:0000894HP:0000894Short clavicles1TWIST1 CL E G H7291617746SWEENEY-COX SYNDROME617746C4540299OMIM120911512428601622
HP:0000894HP:0000894Short clavicles1XYLT1 CL E G H64131615777Desbuquois dysplasia 2615777C4014294OMIM12316715516608124
HP:0000894HP:0000894Short clavicles1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA13413612877606480
HP:0000894HP:0000894Short clavicles1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM13413612877606480
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000894HP:0000894Short clavicles0CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM0231341919603277
HP:0000894HP:0000894Short clavicles0NSDHL CL E G H50814308050Child syndrome308050C0265267OMIM03125613398300275
HP:0000894HP:0000894Short clavicles0TBX5 CL E G H6910142900Holt-Oram syndrome142900C0265264OMIM013231511604601620
HP:0000894HP:0000894Short clavicles1CHD4 CL E G H1108617159Sifrim-Hitz-Weiss syndrome617159C4310688OMIM0231341919603277
HP:0000894HP:0000894Short clavicles1NSDHL CL E G H50814308050Child syndrome308050C0265267OMIM03125613398300275
HP:0000894HP:0000894Short clavicles1TBX5 CL E G H6910142900Holt-Oram syndrome142900C0265264OMIM013231511604601620


Genes (27) :ATP7A B4GALT7 BCOR BGN CHD4 DCHS1 DYNC2LI1 FAT4 FGFR2 FIG4 FLNA HOXD13 IDUA LMNA MSX2 NAA10 NSDHL PORCN RSPO2 RUNX2 SRCAP TBX3 TBX5 TRIP11 TWIST1 XYLT1 ZMPSTE24

Diseases (32) :304150 130070 309800 300106 617159 601390 617088 615546 313855 614592 216340 2484 309350 113300 607014 740 212112 248370 168550 308050 2092 618022 1452 119600 2044 181450 142900 200600 617746 615777 608612 305600
 

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