Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Grandparent Node:
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Abnormality of the lymphatic system (HP:0100763)help
Parent Node:
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Abnormality of the thymus (HP:0000777)help
..Starting node
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Aplasia/Hypoplasia of the thymus (HP:0010515)help
Term ID: 10515
Name: Aplasia/Hypoplasia of the thymus
Synonym: Absent/small thymus; Absent/underdeveloped thymus; Thymic hypoplasia or aplasia
Definition: Absence or underdevelopment of the thymus.
Comments:
Reference: HP:0010515
Genes and Diseases:
 
       Child Nodes:
........expandHypoplasia of the thymus (HP:0000778) help
........expandAplasia of the thymus (HP:0005359) help

 Sister Nodes: 
..expandEctopic thymus tissue (HP:0010517) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandThymic hormone decreased (HP:0003357) help
..expandThymus hyperplasia (HP:0010516) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010515HP:0010515Aplasia/Hypoplasia of the thymus0AK2 CL E G H20433355ORPHA1161362103020
HP:0010515HP:0010515Aplasia/Hypoplasia of the thymus0AK2 CL E G H20433355ORPHA1133362103020
HP:0010515HP:0010515Aplasia/Hypoplasia of the thymus0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA125321732608041
HP:0010515HP:0010515Aplasia/Hypoplasia of the thymus0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA124721732608041
HP:0010515HP:0010515Aplasia/Hypoplasia of the thymus0ATM CL E G H472100ORPHA111382795607585
HP:0010515HP:0010515Aplasia/Hypoplasia of the thymus0ATM CL E G H472100ORPHA110320795607585
HP:0010515HP:0010515Aplasia/Hypoplasia of the thymus0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1198020626608892
HP:0010515HP:0010515Aplasia/Hypoplasia of the thymus0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1175220626608892
HP:0010515HP:0010515Aplasia/Hypoplasia of the thymus0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM139810727608166
HP:0010515HP:0010515Aplasia/Hypoplasia of the thymus0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM134010727608166
HP:0010515HP:0000778Hypoplasia of the thymus1AK2 CL E G H20433355ORPHA1161362103020
HP:0010515HP:0000778Hypoplasia of the thymus1AK2 CL E G H20433355ORPHA1133362103020
HP:0010515HP:0005359Aplasia of the thymus1AK2 CL E G H20433355ORPHA1161362103020
HP:0010515HP:0005359Aplasia of the thymus1AK2 CL E G H20433355ORPHA1133362103020
HP:0010515HP:0005359Aplasia of the thymus1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA125321732608041
HP:0010515HP:0005359Aplasia of the thymus1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA124721732608041
HP:0010515HP:0000778Hypoplasia of the thymus1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA125321732608041
HP:0010515HP:0000778Hypoplasia of the thymus1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA124721732608041
HP:0010515HP:0005359Aplasia of the thymus1ATM CL E G H472100ORPHA111382795607585
HP:0010515HP:0005359Aplasia of the thymus1ATM CL E G H472100ORPHA110320795607585
HP:0010515HP:0000778Hypoplasia of the thymus1ATM CL E G H472100ORPHA111382795607585
HP:0010515HP:0000778Hypoplasia of the thymus1ATM CL E G H472100ORPHA110320795607585
HP:0010515HP:0005359Aplasia of the thymus1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1198020626608892
HP:0010515HP:0005359Aplasia of the thymus1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1175220626608892
HP:0010515HP:0000778Hypoplasia of the thymus1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1198020626608892
HP:0010515HP:0000778Hypoplasia of the thymus1CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1175220626608892
HP:0010515HP:0000778Hypoplasia of the thymus1SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM139810727608166
HP:0010515HP:0000778Hypoplasia of the thymus1SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM134010727608166
HP:0010515HP:0005359Aplasia of the thymus1SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM139810727608166
HP:0010515HP:0005359Aplasia of the thymus1SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM134010727608166
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010515HP:0010515Aplasia/Hypoplasia of the thymus0TBX1 CL E G H68991727ORPHA080411592602054
HP:0010515HP:0010515Aplasia/Hypoplasia of the thymus0TBX1 CL E G H68991727ORPHA072111592602054
HP:0010515HP:0000778Hypoplasia of the thymus1TBX1 CL E G H68991727ORPHA080411592602054
HP:0010515HP:0000778Hypoplasia of the thymus1TBX1 CL E G H68991727ORPHA072111592602054
HP:0010515HP:0005359Aplasia of the thymus1TBX1 CL E G H68991727ORPHA080411592602054
HP:0010515HP:0005359Aplasia of the thymus1TBX1 CL E G H68991727ORPHA072111592602054


Genes (30) :ADA AK2 ANTXR2 ARVCF ATM CHD7 COMT DCLRE1C G6PC3 GP1BB HIRA IL2RG JMJD1C NEK9 PEX5 POLR1C POLR1D RAG1 RAG2 RORC RREB1 SEC24C SEMA3E TBX1 TCOF1 TP63 TTC7A UFD1 WAS WIPF1

Diseases (21) :33355 2176 100 214800 1727 102700 267500 567 208900 603554 602450 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.