Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the pubic bone (HP:0003172)help
Grandparent Node:
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Aplasia/Hypoplasia involving the pelvis (HP:0009103)help
Parent Node:
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Aplasia/Hypoplasia of the pubic bone (HP:0009104)help
..Starting node
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Hypoplastic pubic bone (HP:0003173)help
Term ID: 3173
Name: Hypoplastic pubic bone
Synonym: Hypoplastic pubic bones; Hypoplastic pubis
Definition: Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.
Comments:
Reference: HP:0003173
Genes and Diseases:
 
       Child Nodes:
........expandHypoplastic ischiopubic rami (HP:0008822) help
........expandHypoplastic inferior pubic rami (HP:0008823) help
........expandHypoplastic pubic rami (HP:0008830) help

 Sister Nodes: 
..expandAplastic pubic bones (HP:0008817) 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:0003173HP:0003173Hypoplastic pubic bone0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia254
HP:0003173HP:0003173Hypoplastic pubic bone0CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040281 - Very frequent5
HP:0003173HP:0003173Hypoplastic pubic bone0COL11A2 CL E G H13022187OMIM:614524Fibrochondrogenesis 2.222
HP:0003173HP:0003173Hypoplastic pubic bone0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type.284
HP:0003173HP:0003173Hypoplastic pubic bone0COL2A1 CL E G H12802200ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick typeHP:0040282 - Frequent284
HP:0003173HP:0003173Hypoplastic pubic bone0COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type.284
HP:0003173HP:0003173Hypoplastic pubic bone0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndrome1
HP:0003173HP:0003173Hypoplastic pubic bone0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndrome2
HP:0003173HP:0003173Hypoplastic pubic bone0CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040281 - Very frequent127
HP:0003173HP:0003173Hypoplastic pubic bone0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040283 - Occasional345
HP:0003173HP:0003173Hypoplastic pubic bone0INPPL1 CL E G H36366080ORPHA:2746OpsismodysplasiaHP:0040281 - Very frequent18
HP:0003173HP:0003173Hypoplastic pubic bone0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0003173HP:0003173Hypoplastic pubic bone0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003173HP:0003173Hypoplastic pubic bone0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome141
HP:0003173HP:0003173Hypoplastic pubic bone0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndrome2
HP:0003173HP:0003173Hypoplastic pubic bone0MATN3 CL E G H41486909OMIM:608728Spondyloepimetaphyseal dysplasia, matrilin-3 related.32
HP:0003173HP:0003173Hypoplastic pubic bone0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndrome
HP:0003173HP:0003173Hypoplastic pubic bone0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndrome118
HP:0003173HP:0003173Hypoplastic pubic bone0OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040281 - Very frequent143
HP:0003173HP:0003173Hypoplastic pubic bone0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndrome7
HP:0003173HP:0003173Hypoplastic pubic bone0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0003173HP:0003173Hypoplastic pubic bone0TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0003173HP:0008822Hypoplastic ischiopubic rami1ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0003173HP:0008830Hypoplastic pubic rami1CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0003173HP:0008830Hypoplastic pubic rami1CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0003173HP:0008823Hypoplastic inferior pubic rami1KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0003173HP:0008830Hypoplastic pubic rami1LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0003173HP:0008830Hypoplastic pubic rami1NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0003173HP:0008830Hypoplastic pubic rami1NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0003173HP:0008830Hypoplastic pubic rami1PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7


Genes (19) :ABCC9 CCDC8 COL11A2 COL2A1 CPLX1 CTBP1 CUL7 HSPG2 INPPL1 INTU KAT6B LETM1 MATN3 NELFA NSD2 OBSL1 PIGG SETBP1 TBX15

Diseases (15) :OMIM:239850 ORPHA:2616 OMIM:614524 OMIM:151210 ORPHA:93346 OMIM:184250 ORPHA:280 ORPHA:1865 ORPHA:2746 OMIM:258480 OMIM:617925 OMIM:606170 OMIM:608728 ORPHA:798 OMIM:260660
 

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