Human Phenotype Ontology 
Grandparent Node:
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Abnormal pelvic girdle bone morphology (HP:0002644)help
Parent Node:
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Aplasia/Hypoplasia involving the pelvis (HP:0009103)help
..Starting node
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Hypoplastic pelvis (HP:0008839)help
Term ID: 8839
Name: Hypoplastic pelvis
Synonym: Hypoplastic pelvic bones; Small pelvis
Definition: Underdevelopment of the bony pelvis.
Comments:
Reference: HP:0008839
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAplasia/Hypoplasia involving the femoral head and neck (HP:0009108) help
..expandAplasia/Hypoplasia of the pubic bone (HP:0009104) 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:0008839HP:0008839Hypoplastic pelvis0CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040281 - Very frequent5
HP:0008839HP:0008839Hypoplastic pelvis0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0008839HP:0008839Hypoplastic pelvis0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia.284
HP:0008839HP:0008839Hypoplastic pelvis0COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance typeHP:0040281 - Very frequent284
HP:0008839HP:0008839Hypoplastic pelvis0COMP CL E G H13112227ORPHA:750PseudoachondroplasiaHP:0040283 - Occasional89
HP:0008839HP:0008839Hypoplastic pelvis0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1.127
HP:0008839HP:0008839Hypoplastic pelvis0CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040281 - Very frequent127
HP:0008839HP:0008839Hypoplastic pelvis0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0008839HP:0008839Hypoplastic pelvis0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0008839HP:0008839Hypoplastic pelvis0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0008839HP:0008839Hypoplastic pelvis0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0008839HP:0008839Hypoplastic pelvis0OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040281 - Very frequent143
HP:0008839HP:0008839Hypoplastic pelvis0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.10
HP:0008839HP:0008839Hypoplastic pelvis0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040282 - Frequent20
HP:0008839HP:0008839Hypoplastic pelvis0RSPO2 CL E G H34041928583OMIM:618022Humerofemoral hypoplasia with radiotibial ray deficiency.
HP:0008839HP:0008839Hypoplastic pelvis0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74
HP:0008839HP:0008839Hypoplastic pelvis0WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive.12
HP:0008839HP:0008839Hypoplastic pelvis0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13


Genes (16) :CCDC8 CEP120 COL2A1 COMP CUL7 ERCC6 ERCC8 FGFR3 NSDHL OBSL1 POC1A PORCN RSPO2 SMARCAL1 WNT3 WNT7A

Diseases (16) :ORPHA:2616 OMIM:616300 OMIM:156550 ORPHA:85166 ORPHA:750 OMIM:273750 OMIM:133540 OMIM:216400 OMIM:187600 OMIM:308050 OMIM:614813 ORPHA:2092 OMIM:618022 ORPHA:1830 OMIM:273395 OMIM:228930
 

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