Human Phenotype Ontology 
Grandparent Node:
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Abnormality of prenatal development or birth (HP:0001197)help
Parent Node:
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Abnormal delivery (HP:0001787)help
..Starting node
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Breech presentation (HP:0001623)help
Term ID: 1623
Name: Breech presentation
Synonym: Breech presentation at birth; Feet or buttocks of fetus positioned near opening of uterus; Feet or buttocks of foetus positioned near opening of uterus
Definition: A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.
Comments:
Reference: HP:0001623
Genes and Diseases:
 
       Child Nodes:
........expandFrank breech presentation (HP:0010859) help
........expandComplete breech presentation (HP:0010860) help
........expandIncomplete breech presentation (HP:0010861) help

 Sister Nodes: 
..expandCaesarian section (HP:0011410) help
..expandCephalohematoma (HP:0012541) help
..expandDelivery by Odon device (HP:0030366) help
..expandForceps delivery (HP:0011411) help
..expandInduced vaginal delivery (HP:0030369) help
..expandMiscarriage (HP:0005268) help
..expandNuchal cord (HP:0012498) help
..expandPremature rupture of membranes (HP:0001788) help
..expandShoulder dystocia (HP:0011413) help
..expandTherapeutic abortion (HP:0030449) help
..expandVaginal birth after Caesarian (HP:0030365) help
..expandVentouse delivery (HP:0011412) 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:0001623HP:0001623Breech presentation0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0001623HP:0001623Breech presentation0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent96
HP:0001623HP:0001623Breech presentation0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0001623HP:0001623Breech presentation0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0001623HP:0001623Breech presentation0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0001623HP:0001623Breech presentation0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0001623HP:0001623Breech presentation0COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1.373
HP:0001623HP:0001623Breech presentation0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2.243
HP:0001623HP:0001623Breech presentation0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional3
HP:0001623HP:0001623Breech presentation0CRTAP CL E G H104912379OMIM:610682Osteogenesis imperfecta, type VII.124
HP:0001623HP:0001623Breech presentation0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001623HP:0001623Breech presentation0DST CL E G H6671090OMIM:614653Neuropathy, hereditary sensory and autonomic, type VI108
HP:0001623HP:0001623Breech presentation0DTYMK CL E G H18413061OMIM:619847
HP:0001623HP:0001623Breech presentation0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0001623HP:0001623Breech presentation0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0001623HP:0001623Breech presentation0HACD1 CL E G H92009639OMIM:6199672
HP:0001623HP:0001623Breech presentation0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0001623HP:0001623Breech presentation0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0001623HP:0001623Breech presentation0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0001623HP:0001623Breech presentation0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0001623HP:0001623Breech presentation0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0001623HP:0001623Breech presentation0KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent28
HP:0001623HP:0001623Breech presentation0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0001623HP:0001623Breech presentation0KLHL41 CL E G H1032416905OMIM:615731Nemaline myopathy 9HP:0040283 - Occasional13
HP:0001623HP:0001623Breech presentation0KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent13
HP:0001623HP:0001623Breech presentation0LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent11
HP:0001623HP:0001623Breech presentation0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0001623HP:0001623Breech presentation0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0001623HP:0001623Breech presentation0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0001623HP:0001623Breech presentation0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0001623HP:0001623Breech presentation0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0001623HP:0001623Breech presentation0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0001623HP:0001623Breech presentation0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0001623HP:0001623Breech presentation0NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent745
HP:0001623HP:0001623Breech presentation0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0001623HP:0001623Breech presentation0OPA1 CL E G H49768140OMIM:616896MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14214
HP:0001623HP:0001623Breech presentation0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0001623HP:0001623Breech presentation0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0001623HP:0001623Breech presentation0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0001623HP:0001623Breech presentation0PTPN23 CL E G H2593014406OMIM:618890NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS3
HP:0001623HP:0001623Breech presentation0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0001623HP:0001623Breech presentation0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0001623HP:0001623Breech presentation0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0001623HP:0001623Breech presentation0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0001623HP:0001623Breech presentation0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0001623HP:0001623Breech presentation0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040283 - Occasional
HP:0001623HP:0001623Breech presentation0SHPK CL E G H237291492ORPHA:440713Isolated sedoheptulokinase deficiencyHP:0040282 - Frequent2
HP:0001623HP:0001623Breech presentation0SLC26A2 CL E G H183610994OMIM:600972Achondrogenesis, type IB.166
HP:0001623HP:0001623Breech presentation0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0001623HP:0001623Breech presentation0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0001623HP:0001623Breech presentation0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0001623HP:0001623Breech presentation0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0001623HP:0001623Breech presentation0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0001623HP:0001623Breech presentation0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 77
HP:0001623HP:0001623Breech presentation0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0001623HP:0001623Breech presentation0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0001623HP:0010861Incomplete breech presentation1 CL E G H
HP:0001623HP:0010860Complete breech presentation1 CL E G H
HP:0001623HP:0010859Frank breech presentation1 CL E G H


Genes (52) :ACTA1 ASH1L ASXL3 CFL2 CHST3 COL1A1 COL1A2 COL25A1 CRTAP DHCR7 DST DTYMK ERGIC1 FGFR3 HACD1 HERC2 IARS2 IPW KBTBD13 KDM3B KLHL40 KLHL41 LMOD3 MAGEL2 MKRN3 MKRN3-AS1 MKS1 MYH3 MYPN NEB NPAP1 OPA1 ORC1 PEX1 PIGA PTPN23 PWAR1 PWRN1 RMRP RNU4ATAC RYR1 SCYL2 SHPK SLC26A2 SNORD115-1 SNORD116-1 SON TPM2 TPM3 UQCC2 VARS1 ZNF699

Diseases (35) :ORPHA:171439 ORPHA:171430 OMIM:617796 OMIM:615485 OMIM:610687 OMIM:143095 OMIM:130060 OMIM:617821 ORPHA:1143 OMIM:610682 OMIM:270400 OMIM:614653 OMIM:619847 OMIM:187600 OMIM:619967 OMIM:176270 OMIM:616007 OMIM:618846 OMIM:615731 OMIM:249000 OMIM:193700 OMIM:616896 OMIM:224690 OMIM:214100 OMIM:300868 OMIM:618890 OMIM:250250 OMIM:210710 OMIM:619542 ORPHA:440713 OMIM:600972 OMIM:617140 OMIM:615824 OMIM:617802 OMIM:619488
 

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