Human Phenotype Ontology 
Grandparent Node:
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Abnormal spleen morphology (HP:0025408)help
Parent Node:
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Supernumerary spleens (HP:0009799)help
..Starting node
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Accessory spleen (HP:0001747)help
Term ID: 1747
Name: Accessory spleen
Synonym:
Definition: An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.
Comments:
Reference: HP:0001747
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPolysplenia (HP:0001748) 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:0001747HP:0001747Accessory spleen0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0001747HP:0001747Accessory spleen0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040283 - Occasional28
HP:0001747HP:0001747Accessory spleen0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040283 - Occasional34
HP:0001747HP:0001747Accessory spleen0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040283 - Occasional247
HP:0001747HP:0001747Accessory spleen0CENPF CL E G H10631857OMIM:243605Stromme syndromeHP:0040284 - Very rare27
HP:0001747HP:0001747Accessory spleen0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040283 - Occasional342
HP:0001747HP:0001747Accessory spleen0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome.1
HP:0001747HP:0001747Accessory spleen0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0001747HP:0001747Accessory spleen0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040283 - Occasional57
HP:0001747HP:0001747Accessory spleen0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0001747HP:0001747Accessory spleen0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0001747HP:0001747Accessory spleen0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0001747HP:0001747Accessory spleen0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0001747HP:0001747Accessory spleen0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome.
HP:0001747HP:0001747Accessory spleen0HYLS1 CL E G H21984426558OMIM:236680Hydrolethalus syndrome 1.31
HP:0001747HP:0001747Accessory spleen0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome.2
HP:0001747HP:0001747Accessory spleen0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040283 - Occasional127
HP:0001747HP:0001747Accessory spleen0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0001747HP:0001747Accessory spleen0MYCN CL E G H46137559OMIM:164280Feingold syndrome 1.35
HP:0001747HP:0001747Accessory spleen0MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome.2
HP:0001747HP:0001747Accessory spleen0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome.118
HP:0001747HP:0001747Accessory spleen0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0001747HP:0001747Accessory spleen0PRIM1 CL E G H55579369OMIM:620005
HP:0001747HP:0001747Accessory spleen0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040283 - Occasional109
HP:0001747HP:0001747Accessory spleen0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040283 - Occasional167
HP:0001747HP:0001747Accessory spleen0TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0001747HP:0001747Accessory spleen0TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040283 - Occasional76
HP:0001747HP:0001747Accessory spleen0TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040283 - Occasional31
HP:0001747HP:0001747Accessory spleen0TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040283 - Occasional4
HP:0001747HP:0001747Accessory spleen0TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040283 - Occasional45
HP:0001747HP:0001747Accessory spleen0TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040283 - Occasional33
HP:0001747HP:0001747Accessory spleen0TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040283 - Occasional82
HP:0001747HP:0001747Accessory spleen0TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040283 - Occasional166
HP:0001747HP:0001747Accessory spleen0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040283 - Occasional2
HP:0001747HP:0001747Accessory spleen0WT1 CL E G H749012796OMIM:608978MEACHAM SYNDROME177
HP:0001747HP:0001747Accessory spleen0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2


Genes (35) :ATP6AP1 B9D1 B9D2 CC2D2A CENPF CEP290 CPLX1 CREBBP CSPP1 CTBP1 EP300 ESCO2 EXOC2 FGFRL1 HYLS1 LETM1 MKS1 MYCN MYRF NSD2 PPP2R3C PRIM1 RPGRIP1 RPGRIP1L TCTN1 TCTN2 TCTN3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 WT1 YARS1

Diseases (15) :OMIM:300972 ORPHA:564 OMIM:243605 OMIM:194190 OMIM:180849 OMIM:268300 OMIM:619306 OMIM:236680 OMIM:249000 OMIM:164280 OMIM:618280 OMIM:618419 OMIM:620005 OMIM:608978 OMIM:619418
 

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