Human Phenotype Ontology 
Grandparent Node:
expandAbnormal pelvic girdle bone morphology (HP:0002644)help
Grandparent Node:
expandAbnormality of the vertebral column (HP:0000925)help
Parent Node:
expandAbnormal coccyx morphology (HP:0008519)help
..Starting node
..expandProminent coccyx (HP:0040016)help
Term ID: 40016
Name: Prominent coccyx
Synonym: Prominent tailbone
Definition:
Comments:
Reference: HP:0040016
Genes and Diseases:
 
       Child Nodes:
........expandProminent protruding coccyx (HP:0008472) help

 Sister Nodes: 
..expandCaudal appendage (HP:0002825) help
..expandLong coccyx (HP:0002831) help
..expandProtruding coccyx (HP:0040017) 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:0040016HP:0040016Prominent coccyx0COLEC10 CL E G H105842220ORPHA:2938433MC syndromeHP:0040283 - Occasional3
HP:0040016HP:0040016Prominent coccyx0COLEC11 CL E G H7898917213ORPHA:2938433MC syndromeHP:0040283 - Occasional9
HP:0040016HP:0040016Prominent coccyx0MASP1 CL E G H56486901ORPHA:2938433MC syndromeHP:0040283 - Occasional21
HP:0040016HP:0040016Prominent coccyx0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome134
HP:0040016HP:0040016Prominent coccyx0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0040016HP:0040016Prominent coccyx0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome21
HP:0040016HP:0040016Prominent coccyx0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0040016HP:0008472Prominent protruding coccyx1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0040016HP:0008472Prominent protruding coccyx1TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040281 - Very frequent21
HP:0040016HP:0008472Prominent protruding coccyx1TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5


Genes (6) :COLEC10 COLEC11 MASP1 SH3PXD2B TAF1 TBX15

Diseases (5) :ORPHA:293843 OMIM:249420 OMIM:300966 ORPHA:480907 OMIM:260660
 

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