Human Phenotype Ontology 
Grandparent Node:
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Abnormal axial skeleton morphology (HP:0009121)help
Parent Node:
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Abnormal rib morphology (HP:0000772)help
Parent Node:
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Supernumerary bones of the axial skeleton (HP:0009144)help
..Starting node
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Supernumerary ribs (HP:0005815)help
Term ID: 5815
Name: Supernumerary ribs
Synonym: Extra ribs
Definition: The presence of more than 12 rib pairs.
Comments:
Reference: HP:0005815
Genes and Diseases:
 
       Child Nodes:
........expandCervical ribs (HP:0000891) help

 Sister Nodes: 
..expandSupernumerary vertebrae (HP:0002946) 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:0005815HP:0005815Supernumerary ribs0ACTB CL E G H60132ORPHA:64755Becker nevus syndromeHP:0040283 - Occasional72
HP:0005815HP:0005815Supernumerary ribs0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0005815HP:0005815Supernumerary ribs0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0005815HP:0005815Supernumerary ribs0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0005815HP:0005815Supernumerary ribs0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndrome102
HP:0005815HP:0005815Supernumerary ribs0GATA6 CL E G H26274174OMIM:600001Pancreatic agenesis and congenital heart defects37
HP:0005815HP:0005815Supernumerary ribs0GATA6 CL E G H26274174ORPHA:2255Pancreatic hypoplasia-diabetes-congenital heart disease syndrome37
HP:0005815HP:0005815Supernumerary ribs0GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0005815HP:0005815Supernumerary ribs0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0005815HP:0005815Supernumerary ribs0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0005815HP:0005815Supernumerary ribs0IFT57 CL E G H5508117367OMIM:617927Orofaciodigital syndrome XVIII
HP:0005815HP:0005815Supernumerary ribs0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0005815HP:0005815Supernumerary ribs0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040282 - Frequent52
HP:0005815HP:0005815Supernumerary ribs0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040283 - Occasional21
HP:0005815HP:0005815Supernumerary ribs0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0005815HP:0005815Supernumerary ribs0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0005815HP:0005815Supernumerary ribs0PAX3 CL E G H50778617OMIM:193500Waardenburg syndrome, type 1.59
HP:0005815HP:0005815Supernumerary ribs0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome.665
HP:0005815HP:0005815Supernumerary ribs0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome.40
HP:0005815HP:0005815Supernumerary ribs0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0005815HP:0005815Supernumerary ribs0RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0005815HP:0005815Supernumerary ribs0RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndrome10
HP:0005815HP:0005815Supernumerary ribs0RPS26 CL E G H623110414OMIM:613309Diamond-blackfan anemia 1020
HP:0005815HP:0005815Supernumerary ribs0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0005815HP:0005815Supernumerary ribs0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0005815HP:0005815Supernumerary ribs0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0005815HP:0005815Supernumerary ribs0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0005815HP:0005815Supernumerary ribs0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0005815HP:0005815Supernumerary ribs0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0005815HP:0005815Supernumerary ribs0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0005815HP:0005815Supernumerary ribs0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome.124
HP:0005815HP:0005815Supernumerary ribs0TBX6 CL E G H691111605OMIM:122600Spondylocostal dysostosis 5.19
HP:0005815HP:0000891Cervical ribs1AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0005815HP:0000891Cervical ribs1ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0005815HP:0000891Cervical ribs1ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0005815HP:0000891Cervical ribs1GATA6 CL E G H26274174OMIM:600001Pancreatic agenesis and congenital heart defects37
HP:0005815HP:0000891Cervical ribs1GATA6 CL E G H26274174ORPHA:2255Pancreatic hypoplasia-diabetes-congenital heart disease syndromeHP:0040284 - Very rare37
HP:0005815HP:0000891Cervical ribs1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0005815HP:0000891Cervical ribs1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0005815HP:0000891Cervical ribs1IFT57 CL E G H5508117367OMIM:617927Orofaciodigital syndrome XVIII.
HP:0005815HP:0000891Cervical ribs1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0005815HP:0000891Cervical ribs1RBM8A CL E G H99399905OMIM:274000Thrombocytopenia-absent radius syndrome10
HP:0005815HP:0000891Cervical ribs1RBM8A CL E G H99399905ORPHA:3320Thrombocytopenia-absent radius syndromeHP:0040283 - Occasional10
HP:0005815HP:0000891Cervical ribs1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0005815HP:0000891Cervical ribs1SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0005815HP:0000891Cervical ribs1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0005815HP:0000891Cervical ribs1SON CL E G H665111183OMIM:617140Zttk syndrome12


Genes (27) :ACTB AFF3 ANK1 ANKRD11 GATA6 GDF11 GPC3 GPC4 IFT57 IKBKG MAF MTX2 NIPBL PAX3 PTCH1 PTCH2 PUF60 RBM8A RPS26 RUNX2 SF3B2 SIX6 SKI SON SOX2 SUFU TBX6

Diseases (28) :ORPHA:64755 OMIM:619297 ORPHA:251066 OMIM:148050 ORPHA:2332 OMIM:600001 ORPHA:2255 OMIM:619122 OMIM:312870 OMIM:617927 OMIM:308300 ORPHA:464 ORPHA:1272 OMIM:619127 OMIM:122470 OMIM:193500 OMIM:109400 ORPHA:508488 OMIM:274000 ORPHA:3320 OMIM:613309 OMIM:119600 OMIM:164210 OMIM:206900 OMIM:182212 ORPHA:500150 OMIM:617140 OMIM:122600
 

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