Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the thymus (HP:0000777)help
Parent Node:
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Aplasia/Hypoplasia of the thymus (HP:0010515)help
..Starting node
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Hypoplasia of the thymus (HP:0000778)help
Term ID: 778
Name: Hypoplasia of the thymus
Synonym: Small thymus; Thymic hypoplasia; Thymus hypoplasia
Definition: Underdevelopment of the thymus.
Comments:
Reference: HP:0000778
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAplasia of the thymus (HP:0005359) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000778HP:0000778Hypoplasia of the thymus0AK2 CL E G H204267500Reticular dysgenesis267500C0272167OMIM1161362103020
HP:0000778HP:0000778Hypoplasia of the thymus0AK2 CL E G H204267500Reticular dysgenesis267500C0272167OMIM1133362103020
HP:0000778HP:0000778Hypoplasia of the thymus0ARVCF CL E G H421567ORPHA1550728602269
HP:0000778HP:0000778Hypoplasia of the thymus0ARVCF CL E G H421567ORPHA1544728602269
HP:0000778HP:0000778Hypoplasia of the thymus0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM111382795607585
HP:0000778HP:0000778Hypoplasia of the thymus0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM110320795607585
HP:0000778HP:0000778Hypoplasia of the thymus0COMT CL E G H1312567ORPHA15792228116790
HP:0000778HP:0000778Hypoplasia of the thymus0COMT CL E G H1312567ORPHA15872228116790
HP:0000778HP:0000778Hypoplasia of the thymus0DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM159417642605988
HP:0000778HP:0000778Hypoplasia of the thymus0DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM150917642605988
HP:0000778HP:0000778Hypoplasia of the thymus0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM119824861611045
HP:0000778HP:0000778Hypoplasia of the thymus0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM115924861611045
HP:0000778HP:0000778Hypoplasia of the thymus0GP1BB CL E G H2812567ORPHA14384440138720
HP:0000778HP:0000778Hypoplasia of the thymus0GP1BB CL E G H2812567ORPHA14304440138720
HP:0000778HP:0000778Hypoplasia of the thymus0HIRA CL E G H7290567ORPHA14374916600237
HP:0000778HP:0000778Hypoplasia of the thymus0HIRA CL E G H7290567ORPHA14424916600237
HP:0000778HP:0000778Hypoplasia of the thymus0IL2RG CL E G H3561300400X-linked severe combined immunodeficiency300400C1279481OMIM14036010308380
HP:0000778HP:0000778Hypoplasia of the thymus0IL2RG CL E G H3561300400X-linked severe combined immunodeficiency300400C1279481OMIM13706010308380
HP:0000778HP:0000778Hypoplasia of the thymus0JMJD1C CL E G H221037567ORPHA189912313604503
HP:0000778HP:0000778Hypoplasia of the thymus0JMJD1C CL E G H221037567ORPHA181012313604503
HP:0000778HP:0000778Hypoplasia of the thymus0NEK9 CL E G H91754617022Lethal congenital contracture syndrome 10617022C4310760OMIM17918591609798
HP:0000778HP:0000778Hypoplasia of the thymus0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM15639719600414
HP:0000778HP:0000778Hypoplasia of the thymus0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM14069719600414
HP:0000778HP:0000778Hypoplasia of the thymus0RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM14919831179615
HP:0000778HP:0000778Hypoplasia of the thymus0RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM14269831179615
HP:0000778HP:0000778Hypoplasia of the thymus0RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM13259832179616
HP:0000778HP:0000778Hypoplasia of the thymus0RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM12789832179616
HP:0000778HP:0000778Hypoplasia of the thymus0RORC CL E G H6097616622Immunodeficiency 42616622C4225266OMIM115310260602943
HP:0000778HP:0000778Hypoplasia of the thymus0RORC CL E G H6097616622Immunodeficiency 42616622C4225266OMIM112210260602943
HP:0000778HP:0000778Hypoplasia of the thymus0RREB1 CL E G H6239567ORPHA117210449602209
HP:0000778HP:0000778Hypoplasia of the thymus0RREB1 CL E G H6239567ORPHA117410449602209
HP:0000778HP:0000778Hypoplasia of the thymus0SEC24C CL E G H9632567ORPHA12510705607185
HP:0000778HP:0000778Hypoplasia of the thymus0TBX1 CL E G H6899567ORPHA180411592602054
HP:0000778HP:0000778Hypoplasia of the thymus0TBX1 CL E G H6899567ORPHA172111592602054
HP:0000778HP:0000778Hypoplasia of the thymus0UFD1 CL E G H7353567ORPHA140712520601754
HP:0000778HP:0000778Hypoplasia of the thymus0UFD1 CL E G H7353567ORPHA140212520601754
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000778HP:0000778Hypoplasia of the thymus0POLR1C CL E G H9533861ORPHA0113120194610060
HP:0000778HP:0000778Hypoplasia of the thymus0POLR1C CL E G H9533861ORPHA0101920194610060
HP:0000778HP:0000778Hypoplasia of the thymus0POLR1D CL E G H51082861ORPHA08220422613715
HP:0000778HP:0000778Hypoplasia of the thymus0POLR1D CL E G H51082861ORPHA07920422613715
HP:0000778HP:0000778Hypoplasia of the thymus0TCOF1 CL E G H6949861ORPHA043811654606847
HP:0000778HP:0000778Hypoplasia of the thymus0TCOF1 CL E G H6949861ORPHA038711654606847
HP:0000778HP:0000778Hypoplasia of the thymus0TP63 CL E G H86261896Dominant cleft palateORPHA044415979603273
HP:0000778HP:0000778Hypoplasia of the thymus0TP63 CL E G H86261896Dominant cleft palateORPHA037615979603273
HP:0000778HP:0000778Hypoplasia of the thymus0TTC7A CL E G H57217436252ORPHA065019750609332
HP:0000778HP:0000778Hypoplasia of the thymus0TTC7A CL E G H57217436252ORPHA054519750609332
HP:0000778HP:0000778Hypoplasia of the thymus0TTC7A CL E G H57217243150Multiple gastrointestinal atresias243150C0220744OMIM065019750609332
HP:0000778HP:0000778Hypoplasia of the thymus0TTC7A CL E G H57217243150Multiple gastrointestinal atresias243150C0220744OMIM054519750609332
HP:0000778HP:0000778Hypoplasia of the thymus0WAS CL E G H7454906ORPHA046312731300392
HP:0000778HP:0000778Hypoplasia of the thymus0WAS CL E G H7454906ORPHA041612731300392
HP:0000778HP:0000778Hypoplasia of the thymus0WIPF1 CL E G H7456906ORPHA019412736602357
HP:0000778HP:0000778Hypoplasia of the thymus0WIPF1 CL E G H7456906ORPHA015812736602357


Genes (26) :AK2 ARVCF ATM COMT DCLRE1C G6PC3 GP1BB HIRA IL2RG JMJD1C NEK9 PEX5 POLR1C POLR1D RAG1 RAG2 RORC RREB1 SEC24C TBX1 TCOF1 TP63 TTC7A UFD1 WAS WIPF1

Diseases (14) :267500 567 208900 603554 612541 300400 617022 214110 861 616622 1896 436252 243150 906
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.