Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal spleen morphology (HP:0025408)help
Parent Node:
expand
Supernumerary spleens (HP:0009799)help
..Starting node
..expand
Polysplenia (HP:0001748)help
Term ID: 1748
Name: Polysplenia
Synonym: Accessory spleens; Multiple accessory spleens; Multiple small spleens
Definition: Polysplenia is a congenital disease manifested by multiple small accessory spleens.
Comments:
Reference: HP:0001748
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAccessory spleen (HP:0001747) 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:0001748HP:0001748Polysplenia0ACVR2B CL E G H93174OMIM:613751Heterotaxy, visceral, 4, autosomal161
HP:0001748HP:0001748Polysplenia0CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare36
HP:0001748HP:0001748Polysplenia0CCDC39 CL E G H33982925244OMIM:613807Ciliary dyskinesia, primary, 14126
HP:0001748HP:0001748Polysplenia0CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare126
HP:0001748HP:0001748Polysplenia0CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare182
HP:0001748HP:0001748Polysplenia0CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare23
HP:0001748HP:0001748Polysplenia0CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare23
HP:0001748HP:0001748Polysplenia0CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11.200
HP:0001748HP:0001748Polysplenia0CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001748HP:0001748Polysplenia0CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001748HP:0001748Polysplenia0CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001748HP:0001748Polysplenia0CFAP45 CL E G H2579017229OMIM:619608HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001748HP:0001748Polysplenia0CFC1 CL E G H5599718292OMIM:605376Heterotaxy, visceral, 2, autosomal.13
HP:0001748HP:0001748Polysplenia0DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare116
HP:0001748HP:0001748Polysplenia0DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001748HP:0001748Polysplenia0DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare78
HP:0001748HP:0001748Polysplenia0DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare63
HP:0001748HP:0001748Polysplenia0DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare27
HP:0001748HP:0001748Polysplenia0DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare62
HP:0001748HP:0001748Polysplenia0DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001748HP:0001748Polysplenia0DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare21
HP:0001748HP:0001748Polysplenia0DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare542
HP:0001748HP:0001748Polysplenia0DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare527
HP:0001748HP:0001748Polysplenia0DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare18
HP:0001748HP:0001748Polysplenia0DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare73
HP:0001748HP:0001748Polysplenia0DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare104
HP:0001748HP:0001748Polysplenia0DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare2
HP:0001748HP:0001748Polysplenia0DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare167
HP:0001748HP:0001748Polysplenia0DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare44
HP:0001748HP:0001748Polysplenia0FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001748HP:0001748Polysplenia0GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare1
HP:0001748HP:0001748Polysplenia0GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare9
HP:0001748HP:0001748Polysplenia0GDF1 CL E G H26574214OMIM:208530Right atrial isomerism (Ivemark).28
HP:0001748HP:0001748Polysplenia0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional73
HP:0001748HP:0001748Polysplenia0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0001748HP:0001748Polysplenia0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional
HP:0001748HP:0001748Polysplenia0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0001748HP:0001748Polysplenia0HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare21
HP:0001748HP:0001748Polysplenia0LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001748HP:0001748Polysplenia0MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare13
HP:0001748HP:0001748Polysplenia0MEGF8 CL E G H19543233ORPHA:65759Carpenter syndromeHP:0040283 - Occasional13
HP:0001748HP:0001748Polysplenia0MMP21 CL E G H11885614357OMIM:616749Heterotaxy, visceral, 7, autosomal.3
HP:0001748HP:0001748Polysplenia0MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0001748HP:0001748Polysplenia0NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001748HP:0001748Polysplenia0NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare50
HP:0001748HP:0001748Polysplenia0NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia.157
HP:0001748HP:0001748Polysplenia0ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001748HP:0001748Polysplenia0ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001748HP:0001748Polysplenia0ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001748HP:0001748Polysplenia0ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001748HP:0001748Polysplenia0OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare201
HP:0001748HP:0001748Polysplenia0RAB23 CL E G H5171514263ORPHA:65759Carpenter syndromeHP:0040283 - Occasional31
HP:0001748HP:0001748Polysplenia0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0001748HP:0001748Polysplenia0RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0001748HP:0001748Polysplenia0RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare200
HP:0001748HP:0001748Polysplenia0RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare31
HP:0001748HP:0001748Polysplenia0RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare5
HP:0001748HP:0001748Polysplenia0RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare58
HP:0001748HP:0001748Polysplenia0RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare20
HP:0001748HP:0001748Polysplenia0SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare45
HP:0001748HP:0001748Polysplenia0SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare15
HP:0001748HP:0001748Polysplenia0STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare3
HP:0001748HP:0001748Polysplenia0TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0001748HP:0001748Polysplenia0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0001748HP:0001748Polysplenia0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001748HP:0001748Polysplenia0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked.39
HP:0001748HP:0001748Polysplenia0ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare20


Genes (63) :ACVR2B CCDC103 CCDC39 CCDC40 CCDC65 CCNO CDON CFAP221 CFAP298 CFAP300 CFAP45 CFC1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FOXJ1 GAS2L2 GAS8 GDF1 GPC3 GPC4 HYDIN LRRC56 MCIDAS MEGF8 MMP21 MYCN NEK10 NME8 NPHP3 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 RAB23 RFWD3 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 SPEF2 STK36 TTC12 WDR35 YARS1 ZIC3 ZMYND10

Diseases (18) :OMIM:613751 ORPHA:244 OMIM:613807 OMIM:614226 OMIM:619608 OMIM:605376 OMIM:208530 ORPHA:373 OMIM:312870 ORPHA:65759 OMIM:616749 OMIM:164280 OMIM:208540 OMIM:201000 OMIM:617784 OMIM:613610 OMIM:619418 OMIM:306955
 

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