Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the spleen (HP:0001743)help
Parent Node:
expand
Abnormal spleen morphology (HP:0025408)help
..Starting node
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Supernumerary spleens (HP:0009799)help
Term ID: 9799
Name: Supernumerary spleens
Synonym: Extra spleen
Definition: The presence of two or more accessory spleens.
Comments:
Reference: HP:0009799
Genes and Diseases:
 
       Child Nodes:
........expandAccessory spleen (HP:0001747) help
........expandPolysplenia (HP:0001748) help

 Sister Nodes: 
..expandAplasia/Hypoplasia of the spleen (HP:0010451) help
..expandEctopia of the spleen (HP:0010452) help
..expandHepatosplenomegaly (HP:0001433) help
..expandSplenic abscess (HP:0025059) help
..expandSplenic cyst (HP:0030423) help
..expandSplenic rupture (HP:0012223) help
..expandSplenogonadal fusion (HP:0025410) help
..expandSplenomegaly (HP:0001744) 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:0009799HP:0009799Supernumerary spleens0ACVR2B CL E G H93174OMIM:613751Heterotaxy, visceral, 4, autosomal161
HP:0009799HP:0009799Supernumerary spleens0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0009799HP:0009799Supernumerary spleens0B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0009799HP:0009799Supernumerary spleens0B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0009799HP:0009799Supernumerary spleens0CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0009799HP:0009799Supernumerary spleens0CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesia36
HP:0009799HP:0009799Supernumerary spleens0CCDC39 CL E G H33982925244OMIM:613807Ciliary dyskinesia, primary, 14126
HP:0009799HP:0009799Supernumerary spleens0CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesia126
HP:0009799HP:0009799Supernumerary spleens0CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesia182
HP:0009799HP:0009799Supernumerary spleens0CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesia23
HP:0009799HP:0009799Supernumerary spleens0CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesia23
HP:0009799HP:0009799Supernumerary spleens0CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11200
HP:0009799HP:0009799Supernumerary spleens0CENPF CL E G H10631857OMIM:243605Stromme syndrome27
HP:0009799HP:0009799Supernumerary spleens0CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0009799HP:0009799Supernumerary spleens0CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesia
HP:0009799HP:0009799Supernumerary spleens0CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesia
HP:0009799HP:0009799Supernumerary spleens0CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesia
HP:0009799HP:0009799Supernumerary spleens0CFAP45 CL E G H2579017229OMIM:619608HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0009799HP:0009799Supernumerary spleens0CFC1 CL E G H5599718292OMIM:605376Heterotaxy, visceral, 2, autosomal13
HP:0009799HP:0009799Supernumerary spleens0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0009799HP:0009799Supernumerary spleens0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0009799HP:0009799Supernumerary spleens0CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0009799HP:0009799Supernumerary spleens0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0009799HP:0009799Supernumerary spleens0DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesia116
HP:0009799HP:0009799Supernumerary spleens0DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesia
HP:0009799HP:0009799Supernumerary spleens0DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesia78
HP:0009799HP:0009799Supernumerary spleens0DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesia63
HP:0009799HP:0009799Supernumerary spleens0DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesia27
HP:0009799HP:0009799Supernumerary spleens0DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesia62
HP:0009799HP:0009799Supernumerary spleens0DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesia
HP:0009799HP:0009799Supernumerary spleens0DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesia21
HP:0009799HP:0009799Supernumerary spleens0DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesia542
HP:0009799HP:0009799Supernumerary spleens0DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesia527
HP:0009799HP:0009799Supernumerary spleens0DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesia18
HP:0009799HP:0009799Supernumerary spleens0DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesia73
HP:0009799HP:0009799Supernumerary spleens0DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesia104
HP:0009799HP:0009799Supernumerary spleens0DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesia2
HP:0009799HP:0009799Supernumerary spleens0DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesia167
HP:0009799HP:0009799Supernumerary spleens0DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesia44
HP:0009799HP:0009799Supernumerary spleens0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0009799HP:0009799Supernumerary spleens0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0009799HP:0009799Supernumerary spleens0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0009799HP:0009799Supernumerary spleens0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0009799HP:0009799Supernumerary spleens0FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesia
HP:0009799HP:0009799Supernumerary spleens0GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesia1
HP:0009799HP:0009799Supernumerary spleens0GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesia9
HP:0009799HP:0009799Supernumerary spleens0GDF1 CL E G H26574214OMIM:208530Right atrial isomerism (Ivemark)28
HP:0009799HP:0009799Supernumerary spleens0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0009799HP:0009799Supernumerary spleens0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0009799HP:0009799Supernumerary spleens0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0009799HP:0009799Supernumerary spleens0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0009799HP:0009799Supernumerary spleens0HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesia21
HP:0009799HP:0009799Supernumerary spleens0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 131
HP:0009799HP:0009799Supernumerary spleens0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0009799HP:0009799Supernumerary spleens0LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesia
HP:0009799HP:0009799Supernumerary spleens0MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesia13
HP:0009799HP:0009799Supernumerary spleens0MEGF8 CL E G H19543233ORPHA:65759Carpenter syndrome13
HP:0009799HP:0009799Supernumerary spleens0MKS1 CL E G H549037121ORPHA:564Meckel syndrome127
HP:0009799HP:0009799Supernumerary spleens0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0009799HP:0009799Supernumerary spleens0MMP21 CL E G H11885614357OMIM:616749Heterotaxy, visceral, 7, autosomal3
HP:0009799HP:0009799Supernumerary spleens0MYCN CL E G H46137559OMIM:164280Feingold syndrome 135
HP:0009799HP:0009799Supernumerary spleens0MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome2
HP:0009799HP:0009799Supernumerary spleens0NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesia
HP:0009799HP:0009799Supernumerary spleens0NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesia50
HP:0009799HP:0009799Supernumerary spleens0NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia157
HP:0009799HP:0009799Supernumerary spleens0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0009799HP:0009799Supernumerary spleens0ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesia
HP:0009799HP:0009799Supernumerary spleens0ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesia
HP:0009799HP:0009799Supernumerary spleens0ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesia
HP:0009799HP:0009799Supernumerary spleens0ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesia
HP:0009799HP:0009799Supernumerary spleens0OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesia201
HP:0009799HP:0009799Supernumerary spleens0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009799HP:0009799Supernumerary spleens0PRIM1 CL E G H55579369OMIM:620005
HP:0009799HP:0009799Supernumerary spleens0RAB23 CL E G H5171514263ORPHA:65759Carpenter syndrome31
HP:0009799HP:0009799Supernumerary spleens0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009799HP:0009799Supernumerary spleens0RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0009799HP:0009799Supernumerary spleens0RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesia200
HP:0009799HP:0009799Supernumerary spleens0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndrome109
HP:0009799HP:0009799Supernumerary spleens0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndrome167
HP:0009799HP:0009799Supernumerary spleens0RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesia31
HP:0009799HP:0009799Supernumerary spleens0RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesia5
HP:0009799HP:0009799Supernumerary spleens0RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesia58
HP:0009799HP:0009799Supernumerary spleens0RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesia20
HP:0009799HP:0009799Supernumerary spleens0SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesia45
HP:0009799HP:0009799Supernumerary spleens0SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesia15
HP:0009799HP:0009799Supernumerary spleens0STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesia3
HP:0009799HP:0009799Supernumerary spleens0TCTN1 CL E G H7960026113ORPHA:564Meckel syndrome45
HP:0009799HP:0009799Supernumerary spleens0TCTN2 CL E G H7986725774ORPHA:564Meckel syndrome76
HP:0009799HP:0009799Supernumerary spleens0TCTN3 CL E G H2612324519ORPHA:564Meckel syndrome31
HP:0009799HP:0009799Supernumerary spleens0TMEM107 CL E G H8431428128ORPHA:564Meckel syndrome4
HP:0009799HP:0009799Supernumerary spleens0TMEM216 CL E G H5125925018ORPHA:564Meckel syndrome45
HP:0009799HP:0009799Supernumerary spleens0TMEM231 CL E G H7958337234ORPHA:564Meckel syndrome33
HP:0009799HP:0009799Supernumerary spleens0TMEM237 CL E G H6506214432ORPHA:564Meckel syndrome82
HP:0009799HP:0009799Supernumerary spleens0TMEM67 CL E G H9114728396ORPHA:564Meckel syndrome166
HP:0009799HP:0009799Supernumerary spleens0TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesia
HP:0009799HP:0009799Supernumerary spleens0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndrome2
HP:0009799HP:0009799Supernumerary spleens0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0009799HP:0009799Supernumerary spleens0WT1 CL E G H749012796OMIM:608978MEACHAM SYNDROME177
HP:0009799HP:0009799Supernumerary spleens0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0009799HP:0009799Supernumerary spleens0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0009799HP:0009799Supernumerary spleens0ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesia20
HP:0009799HP:0001748Polysplenia1ACVR2B CL E G H93174OMIM:613751Heterotaxy, visceral, 4, autosomal161
HP:0009799HP:0001747Accessory spleen1ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0009799HP:0001747Accessory spleen1B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040283 - Occasional28
HP:0009799HP:0001747Accessory spleen1B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040283 - Occasional34
HP:0009799HP:0001747Accessory spleen1CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040283 - Occasional247
HP:0009799HP:0001748Polysplenia1CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare36
HP:0009799HP:0001748Polysplenia1CCDC39 CL E G H33982925244OMIM:613807Ciliary dyskinesia, primary, 14126
HP:0009799HP:0001748Polysplenia1CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare126
HP:0009799HP:0001748Polysplenia1CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare182
HP:0009799HP:0001748Polysplenia1CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare23
HP:0009799HP:0001748Polysplenia1CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare23
HP:0009799HP:0001748Polysplenia1CDON CL E G H5093717104OMIM:614226Holoprosencephaly 11.200
HP:0009799HP:0001747Accessory spleen1CENPF CL E G H10631857OMIM:243605Stromme syndromeHP:0040284 - Very rare27
HP:0009799HP:0001747Accessory spleen1CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040283 - Occasional342
HP:0009799HP:0001748Polysplenia1CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0009799HP:0001748Polysplenia1CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0009799HP:0001748Polysplenia1CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0009799HP:0001748Polysplenia1CFAP45 CL E G H2579017229OMIM:619608HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0009799HP:0001748Polysplenia1CFC1 CL E G H5599718292OMIM:605376Heterotaxy, visceral, 2, autosomal.13
HP:0009799HP:0001747Accessory spleen1CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome.1
HP:0009799HP:0001747Accessory spleen1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0009799HP:0001747Accessory spleen1CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040283 - Occasional57
HP:0009799HP:0001747Accessory spleen1CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0009799HP:0001748Polysplenia1DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare116
HP:0009799HP:0001748Polysplenia1DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0009799HP:0001748Polysplenia1DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare78
HP:0009799HP:0001748Polysplenia1DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare63
HP:0009799HP:0001748Polysplenia1DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare27
HP:0009799HP:0001748Polysplenia1DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare62
HP:0009799HP:0001748Polysplenia1DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0009799HP:0001748Polysplenia1DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare21
HP:0009799HP:0001748Polysplenia1DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare542
HP:0009799HP:0001748Polysplenia1DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare527
HP:0009799HP:0001748Polysplenia1DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare18
HP:0009799HP:0001748Polysplenia1DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare73
HP:0009799HP:0001748Polysplenia1DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare104
HP:0009799HP:0001748Polysplenia1DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare2
HP:0009799HP:0001748Polysplenia1DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare167
HP:0009799HP:0001748Polysplenia1DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare44
HP:0009799HP:0001747Accessory spleen1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0009799HP:0001747Accessory spleen1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0009799HP:0001747Accessory spleen1EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0009799HP:0001747Accessory spleen1FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome.
HP:0009799HP:0001748Polysplenia1FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0009799HP:0001748Polysplenia1GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare1
HP:0009799HP:0001748Polysplenia1GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare9
HP:0009799HP:0001748Polysplenia1GDF1 CL E G H26574214OMIM:208530Right atrial isomerism (Ivemark).28
HP:0009799HP:0001748Polysplenia1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional73
HP:0009799HP:0001748Polysplenia1GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0009799HP:0001748Polysplenia1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040283 - Occasional
HP:0009799HP:0001748Polysplenia1GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0009799HP:0001748Polysplenia1HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare21
HP:0009799HP:0001747Accessory spleen1HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 1.31
HP:0009799HP:0001747Accessory spleen1LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0009799HP:0001748Polysplenia1LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0009799HP:0001748Polysplenia1MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare13
HP:0009799HP:0001748Polysplenia1MEGF8 CL E G H19543233ORPHA:65759Carpenter syndromeHP:0040283 - Occasional13
HP:0009799HP:0001747Accessory spleen1MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040283 - Occasional127
HP:0009799HP:0001747Accessory spleen1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0009799HP:0001748Polysplenia1MMP21 CL E G H11885614357OMIM:616749Heterotaxy, visceral, 7, autosomal.3
HP:0009799HP:0001748Polysplenia1MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0009799HP:0001747Accessory spleen1MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0009799HP:0001747Accessory spleen1MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome.2
HP:0009799HP:0001748Polysplenia1NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0009799HP:0001748Polysplenia1NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare50
HP:0009799HP:0001748Polysplenia1NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia.157
HP:0009799HP:0001747Accessory spleen1NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome.118
HP:0009799HP:0001748Polysplenia1ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0009799HP:0001748Polysplenia1ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0009799HP:0001748Polysplenia1ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0009799HP:0001748Polysplenia1ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0009799HP:0001748Polysplenia1OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare201
HP:0009799HP:0001747Accessory spleen1PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0009799HP:0001747Accessory spleen1PRIM1 CL E G H55579369OMIM:620005
HP:0009799HP:0001748Polysplenia1RAB23 CL E G H5171514263ORPHA:65759Carpenter syndromeHP:0040283 - Occasional31
HP:0009799HP:0001748Polysplenia1RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0009799HP:0001748Polysplenia1RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0009799HP:0001748Polysplenia1RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare200
HP:0009799HP:0001747Accessory spleen1RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040283 - Occasional109
HP:0009799HP:0001747Accessory spleen1RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040283 - Occasional167
HP:0009799HP:0001748Polysplenia1RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare31
HP:0009799HP:0001748Polysplenia1RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare5
HP:0009799HP:0001748Polysplenia1RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare58
HP:0009799HP:0001748Polysplenia1RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare20
HP:0009799HP:0001748Polysplenia1SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare45
HP:0009799HP:0001748Polysplenia1SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare15
HP:0009799HP:0001748Polysplenia1STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare3
HP:0009799HP:0001747Accessory spleen1TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0009799HP:0001747Accessory spleen1TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040283 - Occasional76
HP:0009799HP:0001747Accessory spleen1TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040283 - Occasional31
HP:0009799HP:0001747Accessory spleen1TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040283 - Occasional4
HP:0009799HP:0001747Accessory spleen1TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0009799HP:0001747Accessory spleen1TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040283 - Occasional33
HP:0009799HP:0001747Accessory spleen1TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040283 - Occasional82
HP:0009799HP:0001747Accessory spleen1TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040283 - Occasional166
HP:0009799HP:0001748Polysplenia1TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0009799HP:0001747Accessory spleen1TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040283 - Occasional2
HP:0009799HP:0001748Polysplenia1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0009799HP:0001747Accessory spleen1WT1 CL E G H749012796OMIM:608978MEACHAM SYNDROME177
HP:0009799HP:0001748Polysplenia1YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0009799HP:0001747Accessory spleen1YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0009799HP:0001748Polysplenia1ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked.39
HP:0009799HP:0001748Polysplenia1ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare20


Genes (96) :ACVR2B ATP6AP1 B9D1 B9D2 CC2D2A CCDC103 CCDC39 CCDC40 CCDC65 CCNO CDON CENPF CEP290 CFAP221 CFAP298 CFAP300 CFAP45 CFC1 CPLX1 CREBBP CSPP1 CTBP1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 EP300 ESCO2 EXOC2 FGFRL1 FOXJ1 GAS2L2 GAS8 GDF1 GPC3 GPC4 HYDIN HYLS1 LETM1 LRRC56 MCIDAS MEGF8 MKS1 MMP21 MYCN MYRF NEK10 NME8 NPHP3 NSD2 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 PPP2R3C PRIM1 RAB23 RFWD3 RPGR RPGRIP1 RPGRIP1L RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 SPEF2 STK36 TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TTC12 TXNDC15 WDR35 WT1 YARS1 ZIC3 ZMYND10

Diseases (31) :OMIM:613751 OMIM:300972 ORPHA:564 ORPHA:244 OMIM:613807 OMIM:614226 OMIM:243605 OMIM:619608 OMIM:605376 OMIM:194190 OMIM:180849 OMIM:268300 OMIM:619306 OMIM:208530 ORPHA:373 OMIM:312870 OMIM:236680 ORPHA:65759 OMIM:249000 OMIM:616749 OMIM:164280 OMIM:618280 OMIM:208540 OMIM:618419 OMIM:620005 OMIM:201000 OMIM:617784 OMIM:613610 OMIM:608978 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.