Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the spleen (HP:0001743)help
Parent Node:
expand
Abnormal spleen morphology (HP:0025408)help
..Starting node
..expand
Aplasia/Hypoplasia of the spleen (HP:0010451)help
Term ID: 10451
Name: Aplasia/Hypoplasia of the spleen
Synonym: Absent/small spleen; Absent/underdeveloped spleen
Definition: Absence or underdevelopment of the spleen.
Comments:
Reference: HP:0010451
Genes and Diseases:
 
       Child Nodes:
........expandAsplenia (HP:0001746) help
........expandHypoplastic spleen (HP:0006270) help

 Sister Nodes: 
..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
..expandSupernumerary spleens (HP:0009799) 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:0010451HP:0010451Aplasia/Hypoplasia of the spleen0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0B9D1 CL E G H2707724123ORPHA:564Meckel syndrome28
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0B9D2 CL E G H8077628636ORPHA:564Meckel syndrome34
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0BCL11A CL E G H5333513221ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome11
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0CC2D2A CL E G H5754529253ORPHA:564Meckel syndrome247
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesia36
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesia126
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesia182
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesia23
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesia23
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0CEP290 CL E G H8018429021ORPHA:564Meckel syndrome342
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesia
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesia
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesia
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0CFC1 CL E G H5599718292OMIM:605376Heterotaxy, visceral, 2, autosomal13
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0CSPP1 CL E G H7984826193ORPHA:564Meckel syndrome57
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesia116
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesia
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesia78
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesia63
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesia27
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesia62
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesia
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesia21
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesia542
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesia527
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesia18
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 173
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesia73
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesia104
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesia2
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesia167
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesia44
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia8
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0FOXF1 CL E G H22943809ORPHA:210122Congenital alveolar capillary dysplasia61
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesia
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesia1
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesia9
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0GDF1 CL E G H26574214OMIM:208530Right atrial isomerism (Ivemark)28
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0HBB CL E G H30434827ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome580
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0HBG1 CL E G H30474831ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome35
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0HBG2 CL E G H30484832ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome50
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0HMOX1 CL E G H31625013OMIM:614034HEME OXYGENASE 1 DEFICIENCY; HMOX1D3
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesia21
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts type10
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0KLF1 CL E G H106616345ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome42
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesia
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesia13
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0MCM10 CL E G H5538818043OMIM:619313IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0MKS1 CL E G H549037121ORPHA:564Meckel syndrome127
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0MNS1 CL E G H5532929636OMIM:618948HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0MYCN CL E G H46137559OMIM:164280Feingold syndrome 135
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts type96
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesia
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0NEK8 CL E G H28408613387OMIM:615415Renal-Hepatic-Pancreatic dysplasia 243
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesia50
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0NODAL CL E G H48387865OMIM:270100Heterotaxy, visceral, 545
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia157
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesia
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesia
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesia
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesia
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesia201
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0ORAI1 CL E G H8487625896ORPHA:3204Stormorken-Sjaastad-Langslet syndrome19
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts type334
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesia200
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndrome109
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndrome167
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0RPSA CL E G H39216502OMIM:271400Asplenia, isolated congenital9
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesia31
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesia5
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesia58
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesia20
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0SMAD2 CL E G H40876768OMIM:619657CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD87
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesia45
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesia15
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0STIM1 CL E G H678611386OMIM:185070Stormorken syndrome31
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0STIM1 CL E G H678611386ORPHA:3204Stormorken-Sjaastad-Langslet syndrome31
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesia3
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 971
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0TCTN1 CL E G H7960026113ORPHA:564Meckel syndrome45
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0TCTN2 CL E G H7986725774ORPHA:564Meckel syndrome76
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0TCTN3 CL E G H2612324519ORPHA:564Meckel syndrome31
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0TMEM107 CL E G H8431428128ORPHA:564Meckel syndrome4
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0TMEM216 CL E G H5125925018ORPHA:564Meckel syndrome45
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0TMEM231 CL E G H7958337234ORPHA:564Meckel syndrome33
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0TMEM237 CL E G H6506214432ORPHA:564Meckel syndrome82
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0TMEM67 CL E G H9114728396ORPHA:564Meckel syndrome166
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesia
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome18
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndrome2
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive12
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0010451HP:0010451Aplasia/Hypoplasia of the spleen0ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesia20
HP:0010451HP:0001746Asplenia1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0010451HP:0001746Asplenia1B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040283 - Occasional28
HP:0010451HP:0001746Asplenia1B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040283 - Occasional34
HP:0010451HP:0001746Asplenia1BCL11A CL E G H5333513221ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome11
HP:0010451HP:0001746Asplenia1CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040283 - Occasional247
HP:0010451HP:0001746Asplenia1CCDC103 CL E G H38838932700ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare36
HP:0010451HP:0001746Asplenia1CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0010451HP:0001746Asplenia1CCDC39 CL E G H33982925244ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare126
HP:0010451HP:0001746Asplenia1CCDC40 CL E G H5503626090ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare182
HP:0010451HP:0001746Asplenia1CCDC65 CL E G H8547829937ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare23
HP:0010451HP:0001746Asplenia1CCNO CL E G H1030918576ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare23
HP:0010451HP:0001746Asplenia1CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040283 - Occasional342
HP:0010451HP:0001746Asplenia1CFAP221 CL E G H20037333720ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0010451HP:0001746Asplenia1CFAP298 CL E G H566831301ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0010451HP:0001746Asplenia1CFAP300 CL E G H8501628188ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0010451HP:0001746Asplenia1CFC1 CL E G H5599718292OMIM:605376Heterotaxy, visceral, 2, autosomal13
HP:0010451HP:0001746Asplenia1CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040283 - Occasional57
HP:0010451HP:0001746Asplenia1DNAAF1 CL E G H12387230539ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare116
HP:0010451HP:0001746Asplenia1DNAAF11 CL E G H2363916725ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0010451HP:0001746Asplenia1DNAAF2 CL E G H5517220188ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare78
HP:0010451HP:0001746Asplenia1DNAAF3 CL E G H35290930492ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare63
HP:0010451HP:0001746Asplenia1DNAAF4 CL E G H16158221493ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare27
HP:0010451HP:0001746Asplenia1DNAAF5 CL E G H5491926013ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare62
HP:0010451HP:0001746Asplenia1DNAAF6 CL E G H13921228570ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0010451HP:0001746Asplenia1DNAH1 CL E G H259812940ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare21
HP:0010451HP:0001746Asplenia1DNAH11 CL E G H87012942ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare542
HP:0010451HP:0001746Asplenia1DNAH5 CL E G H17672950ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare527
HP:0010451HP:0001746Asplenia1DNAH9 CL E G H17702953ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare18
HP:0010451HP:0001746Asplenia1DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 1.73
HP:0010451HP:0001746Asplenia1DNAI1 CL E G H270192954ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare73
HP:0010451HP:0001746Asplenia1DNAI2 CL E G H6444618744ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare104
HP:0010451HP:0001746Asplenia1DNAJB13 CL E G H37440730718ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare2
HP:0010451HP:0001746Asplenia1DNAL1 CL E G H8354423247ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare167
HP:0010451HP:0001746Asplenia1DRC1 CL E G H9274924245ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare44
HP:0010451HP:0006270Hypoplastic spleen1FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasia.8
HP:0010451HP:0001746Asplenia1FAM111A CL E G H6390124725OMIM:602361Gracile bone dysplasiaHP:0040283 - Occasional8
HP:0010451HP:0001746Asplenia1FOXF1 CL E G H22943809OMIM:265380Alveolar capillary dysplasia with misalignment of pulmonary veins61
HP:0010451HP:0001746Asplenia1FOXF1 CL E G H22943809ORPHA:210122Congenital alveolar capillary dysplasiaHP:0040283 - Occasional61
HP:0010451HP:0001746Asplenia1FOXJ1 CL E G H23023816ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0010451HP:0001746Asplenia1GAS2L2 CL E G H24617624846ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare1
HP:0010451HP:0001746Asplenia1GAS8 CL E G H26224166ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare9
HP:0010451HP:0001746Asplenia1GDF1 CL E G H26574214OMIM:208530Right atrial isomerism (Ivemark)28
HP:0010451HP:0001746Asplenia1HBB CL E G H30434827ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome580
HP:0010451HP:0001746Asplenia1HBG1 CL E G H30474831ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome35
HP:0010451HP:0001746Asplenia1HBG2 CL E G H30484832ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome50
HP:0010451HP:0001746Asplenia1HMOX1 CL E G H31625013OMIM:614034HEME OXYGENASE 1 DEFICIENCY; HMOX1D3
HP:0010451HP:0001746Asplenia1HYDIN CL E G H5476819368ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare21
HP:0010451HP:0006270Hypoplastic spleen1KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional10
HP:0010451HP:0001746Asplenia1KLF1 CL E G H106616345ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome42
HP:0010451HP:0001746Asplenia1LRRC56 CL E G H11539925430ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0010451HP:0001746Asplenia1MCIDAS CL E G H34564340050ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare13
HP:0010451HP:0006270Hypoplastic spleen1MCM10 CL E G H5538818043OMIM:619313IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0010451HP:0001746Asplenia1MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040283 - Occasional127
HP:0010451HP:0001746Asplenia1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0010451HP:0001746Asplenia1MNS1 CL E G H5532929636OMIM:618948HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0010451HP:0001746Asplenia1MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.HP:0003577 - Congenital onset35
HP:0010451HP:0006270Hypoplastic spleen1NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional96
HP:0010451HP:0001746Asplenia1NEK10 CL E G H15211018592ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0010451HP:0001746Asplenia1NEK8 CL E G H28408613387OMIM:615415Renal-Hepatic-Pancreatic dysplasia 2HP:0040283 - Occasional43
HP:0010451HP:0001746Asplenia1NME8 CL E G H5131416473ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare50
HP:0010451HP:0001746Asplenia1NODAL CL E G H48387865OMIM:270100Heterotaxy, visceral, 545
HP:0010451HP:0001746Asplenia1NPHP3 CL E G H270317907OMIM:208540Renal-Hepatic-Pancreatic dysplasia.157
HP:0010451HP:0001746Asplenia1ODAD1 CL E G H9323326560ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0010451HP:0001746Asplenia1ODAD2 CL E G H5513025583ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0010451HP:0001746Asplenia1ODAD3 CL E G H11594828303ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0010451HP:0001746Asplenia1ODAD4 CL E G H8353825280ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0010451HP:0001746Asplenia1OFD1 CL E G H84812567ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare201
HP:0010451HP:0001746Asplenia1ORAI1 CL E G H8487625896ORPHA:3204Stormorken-Sjaastad-Langslet syndromeHP:0040281 - Very frequent19
HP:0010451HP:0006270Hypoplastic spleen1RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional334
HP:0010451HP:0001746Asplenia1RPGR CL E G H610310295ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare200
HP:0010451HP:0001746Asplenia1RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040283 - Occasional109
HP:0010451HP:0001746Asplenia1RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040283 - Occasional167
HP:0010451HP:0001746Asplenia1RPSA CL E G H39216502OMIM:271400Asplenia, isolated congenital.9
HP:0010451HP:0001746Asplenia1RSPH1 CL E G H8976512371ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare31
HP:0010451HP:0001746Asplenia1RSPH3 CL E G H8386121054ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare5
HP:0010451HP:0001746Asplenia1RSPH4A CL E G H34589521558ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare58
HP:0010451HP:0001746Asplenia1RSPH9 CL E G H22142121057ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare20
HP:0010451HP:0006270Hypoplastic spleen1SAMD9 CL E G H548091348OMIM:617053Mirage syndromeHP:0040283 - Occasional8
HP:0010451HP:0001746Asplenia1SMAD2 CL E G H40876768OMIM:619657CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD87
HP:0010451HP:0001746Asplenia1SPAG1 CL E G H667411212ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare45
HP:0010451HP:0001746Asplenia1SPEF2 CL E G H7992526293ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare15
HP:0010451HP:0001746Asplenia1STIM1 CL E G H678611386OMIM:185070Stormorken syndrome.31
HP:0010451HP:0001746Asplenia1STIM1 CL E G H678611386ORPHA:3204Stormorken-Sjaastad-Langslet syndromeHP:0040281 - Very frequent31
HP:0010451HP:0001746Asplenia1STK36 CL E G H2714817209ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare3
HP:0010451HP:0006270Hypoplastic spleen1STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 9.71
HP:0010451HP:0001746Asplenia1TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0010451HP:0001746Asplenia1TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040283 - Occasional76
HP:0010451HP:0001746Asplenia1TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040283 - Occasional31
HP:0010451HP:0001746Asplenia1TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040283 - Occasional4
HP:0010451HP:0001746Asplenia1TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0010451HP:0001746Asplenia1TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040283 - Occasional33
HP:0010451HP:0001746Asplenia1TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040283 - Occasional82
HP:0010451HP:0001746Asplenia1TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040283 - Occasional166
HP:0010451HP:0001746Asplenia1TTC12 CL E G H5497023700ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare
HP:0010451HP:0001746Asplenia1TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18
HP:0010451HP:0001746Asplenia1TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040283 - Occasional2
HP:0010451HP:0001746Asplenia1WNT3 CL E G H747312782OMIM:273395Tetraamelia, autosomal recessive.12
HP:0010451HP:0001746Asplenia1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0010451HP:0001746Asplenia1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0010451HP:0001746Asplenia1ZIC3 CL E G H754712874OMIM:306955Heterotaxy, visceral, 1, X-linked39
HP:0010451HP:0001746Asplenia1ZMYND10 CL E G H5136419412ORPHA:244Primary ciliary dyskinesiaHP:0040284 - Very rare20


Genes (95) :AIRE B9D1 B9D2 BCL11A CC2D2A CCDC103 CCDC32 CCDC39 CCDC40 CCDC65 CCNO CEP290 CFAP221 CFAP298 CFAP300 CFC1 CSPP1 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 FAM111A FOXF1 FOXJ1 GAS2L2 GAS8 GDF1 HBB HBG1 HBG2 HMOX1 HYDIN KATNB1 KLF1 LRRC56 MCIDAS MCM10 MKS1 MNS1 MYCN NDE1 NEK10 NEK8 NME8 NODAL NPHP3 ODAD1 ODAD2 ODAD3 ODAD4 OFD1 ORAI1 RELN RPGR RPGRIP1 RPGRIP1L RPSA RSPH1 RSPH3 RSPH4A RSPH9 SAMD9 SMAD2 SPAG1 SPEF2 STIM1 STK36 STRA6 TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TTC12 TWIST1 TXNDC15 WNT3 ZEB2 ZIC3 ZMYND10

Diseases (31) :OMIM:240300 ORPHA:564 ORPHA:251380 ORPHA:244 OMIM:619123 OMIM:605376 OMIM:244400 OMIM:602361 OMIM:265380 ORPHA:210122 OMIM:208530 OMIM:614034 ORPHA:89844 OMIM:619313 OMIM:249000 OMIM:618948 OMIM:164280 OMIM:615415 OMIM:270100 OMIM:208540 ORPHA:3204 OMIM:271400 OMIM:617053 OMIM:619657 OMIM:185070 OMIM:601186 OMIM:617746 OMIM:273395 ORPHA:261552 ORPHA:261537 OMIM:306955
 

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