Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the immune system (HP:0002715)help
Parent Node:
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Abnormality of the endocrine system (HP:0000818)help
Parent Node:
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Abnormality of the lymphatic system (HP:0100763)help
..Starting node
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Abnormality of the thymus (HP:0000777)help
Term ID: 777
Name: Abnormality of the thymus
Synonym: Abnormality of the thymus
Definition: Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.
Comments:
Reference: HP:0000777
Genes and Diseases:
 
       Child Nodes:
........expandThymic hormone decreased (HP:0003357) help
........expandAplasia/Hypoplasia of the thymus (HP:0010515) help
................... HP:0000778 Hypoplasia of the thymus
................... HP:0005359 Aplasia of the thymus
........expandThymus hyperplasia (HP:0010516) help
........expandEctopic thymus tissue (HP:0010517) help
........expandNeoplasm of the thymus (HP:0100521) help
................... HP:0100522 Thymoma

 Sister Nodes: 
..expandAbnormal lymphatic vessel morphology (HP:0100766) help
..expandAbnormal pulmonary lymphatics (HP:0006529) help
..expandAbnormality of the lymph nodes (HP:0002733) help
..expandAbnormality of the spleen (HP:0001743) help
..expandAbnormality of the tonsils (HP:0100765) help
..expandLymphangioma (HP:0100764) 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:0000777HP:0000777Abnormality of the thymus0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0000777HP:0000777Abnormality of the thymus0AK2 CL E G H204362OMIM:267500Reticular dysgenesia19
HP:0000777HP:0000777Abnormality of the thymus0AK2 CL E G H204362ORPHA:33355Reticular dysgenesis19
HP:0000777HP:0000777Abnormality of the thymus0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0000777HP:0000777Abnormality of the thymus0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0000777HP:0000777Abnormality of the thymus0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosis49
HP:0000777HP:0000777Abnormality of the thymus0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0000777HP:0000777Abnormality of the thymus0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0000777HP:0000777Abnormality of the thymus0ATM CL E G H472795ORPHA:100Ataxia-telangiectasia3267
HP:0000777HP:0000777Abnormality of the thymus0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0000777HP:0000777Abnormality of the thymus0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0000777HP:0000777Abnormality of the thymus0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0000777HP:0000777Abnormality of the thymus0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0000777HP:0000777Abnormality of the thymus0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0000777HP:0000777Abnormality of the thymus0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0000777HP:0000777Abnormality of the thymus0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0000777HP:0000777Abnormality of the thymus0DCLRE1C CL E G H6442117642OMIM:603554Omenn syndrome94
HP:0000777HP:0000777Abnormality of the thymus0DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation94
HP:0000777HP:0000777Abnormality of the thymus0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0000777HP:0000777Abnormality of the thymus0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0000777HP:0000777Abnormality of the thymus0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0000777HP:0000777Abnormality of the thymus0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0000777HP:0000777Abnormality of the thymus0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0000777HP:0000777Abnormality of the thymus0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0000777HP:0000777Abnormality of the thymus0IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0000777HP:0000777Abnormality of the thymus0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0000777HP:0000777Abnormality of the thymus0MCM10 CL E G H5538818043OMIM:619313IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0000777HP:0000777Abnormality of the thymus0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0000777HP:0000777Abnormality of the thymus0MTHFR CL E G H45247436ORPHA:563609Isolated anencephaly183
HP:0000777HP:0000777Abnormality of the thymus0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0000777HP:0000777Abnormality of the thymus0NKX2-6 CL E G H13781432940ORPHA:3384Truncus arteriosus3
HP:0000777HP:0000777Abnormality of the thymus0NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0000777HP:0000777Abnormality of the thymus0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger)99
HP:0000777HP:0000777Abnormality of the thymus0PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrum11
HP:0000777HP:0000777Abnormality of the thymus0PLXND1 CL E G H231299107ORPHA:3384Truncus arteriosus
HP:0000777HP:0000777Abnormality of the thymus0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0000777HP:0000777Abnormality of the thymus0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0000777HP:0000777Abnormality of the thymus0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0000777HP:0000777Abnormality of the thymus0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0000777HP:0000777Abnormality of the thymus0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0000777HP:0000777Abnormality of the thymus0PTEN CL E G H57289588ORPHA:2969Proteus-like syndrome948
HP:0000777HP:0000777Abnormality of the thymus0RAG1 CL E G H58969831OMIM:603554Omenn syndrome127
HP:0000777HP:0000777Abnormality of the thymus0RAG2 CL E G H58979832OMIM:603554Omenn syndrome50
HP:0000777HP:0000777Abnormality of the thymus0RORC CL E G H609710260OMIM:616622Immunodeficiency 425
HP:0000777HP:0000777Abnormality of the thymus0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0000777HP:0000777Abnormality of the thymus0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0000777HP:0000777Abnormality of the thymus0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrhea
HP:0000777HP:0000777Abnormality of the thymus0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrhea
HP:0000777HP:0000777Abnormality of the thymus0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0000777HP:0000777Abnormality of the thymus0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndrome32
HP:0000777HP:0000777Abnormality of the thymus0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0000777HP:0000777Abnormality of the thymus0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0000777HP:0000777Abnormality of the thymus0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0000777HP:0000777Abnormality of the thymus0TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0000777HP:0000777Abnormality of the thymus0TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrum26
HP:0000777HP:0000777Abnormality of the thymus0TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0000777HP:0000777Abnormality of the thymus0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0000777HP:0000777Abnormality of the thymus0VANGL2 CL E G H5721615511ORPHA:563609Isolated anencephaly2
HP:0000777HP:0000777Abnormality of the thymus0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndrome65
HP:0000777HP:0000777Abnormality of the thymus0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndrome6
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1AK2 CL E G H204362OMIM:267500Reticular dysgenesia19
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1AK2 CL E G H204362ORPHA:33355Reticular dysgenesisHP:0040281 - Very frequent19
HP:0000777HP:0100521Neoplasm of the thymus1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000777HP:0010516Thymus hyperplasia1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000777HP:0010516Thymus hyperplasia1ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040281 - Very frequent3267
HP:0000777HP:0100521Neoplasm of the thymus1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0000777HP:0100521Neoplasm of the thymus1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0000777HP:0100521Neoplasm of the thymus1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0000777HP:0100521Neoplasm of the thymus1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0000777HP:0100521Neoplasm of the thymus1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1DCLRE1C CL E G H6442117642OMIM:603554Omenn syndrome94
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation94
HP:0000777HP:0003357Thymic hormone decreased1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive37
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked48
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1MCM10 CL E G H5538818043OMIM:619313IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0000777HP:0100521Neoplasm of the thymus1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0000777HP:0010516Thymus hyperplasia1MTHFR CL E G H45247436ORPHA:563609Isolated anencephalyHP:0040283 - Occasional183
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1NKX2-6 CL E G H13781432940ORPHA:3384Truncus arteriosus3
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger)99
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrum11
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1PLXND1 CL E G H231299107ORPHA:3384Truncus arteriosus
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0000777HP:0010516Thymus hyperplasia1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000777HP:0100521Neoplasm of the thymus1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000777HP:0010516Thymus hyperplasia1PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040283 - Occasional948
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1RAG1 CL E G H58969831OMIM:603554Omenn syndrome127
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1RAG2 CL E G H58979832OMIM:603554Omenn syndrome50
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1RORC CL E G H609710260OMIM:616622Immunodeficiency 425
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrhea
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrhea
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndromeHP:0040283 - Occasional32
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0000777HP:0010517Ectopic thymus tissue1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrum26
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndrome26
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0000777HP:0010516Thymus hyperplasia1VANGL2 CL E G H5721615511ORPHA:563609Isolated anencephalyHP:0040283 - Occasional2
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndrome65
HP:0000777HP:0010515Aplasia/Hypoplasia of the thymus1WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndrome6
HP:0000777HP:0005359Aplasia of the thymus2ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency.75
HP:0000777HP:0000778Hypoplasia of the thymus2AK2 CL E G H204362OMIM:267500Reticular dysgenesia19
HP:0000777HP:0000778Hypoplasia of the thymus2ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent1
HP:0000777HP:0000778Hypoplasia of the thymus2ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0000777HP:0100522Thymoma2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare2
HP:0000777HP:0100522Thymoma2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare102
HP:0000777HP:0100522Thymoma2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040284 - Very rare102
HP:0000777HP:0100522Thymoma2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare1
HP:0000777HP:0100522Thymoma2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare
HP:0000777HP:0000778Hypoplasia of the thymus2COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent6
HP:0000777HP:0000778Hypoplasia of the thymus2DCLRE1C CL E G H6442117642OMIM:603554Omenn syndrome.94
HP:0000777HP:0005359Aplasia of the thymus2DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation.94
HP:0000777HP:0000778Hypoplasia of the thymus2G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0000777HP:0000778Hypoplasia of the thymus2GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent8
HP:0000777HP:0000778Hypoplasia of the thymus2HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent3
HP:0000777HP:0000778Hypoplasia of the thymus2IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked.48
HP:0000777HP:0000778Hypoplasia of the thymus2JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent2
HP:0000777HP:0000778Hypoplasia of the thymus2MCM10 CL E G H5538818043OMIM:619313IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0000777HP:0100522Thymoma2MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare462
HP:0000777HP:0000778Hypoplasia of the thymus2NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0000777HP:0000778Hypoplasia of the thymus2NKX2-6 CL E G H13781432940ORPHA:3384Truncus arteriosusHP:0040283 - Occasional3
HP:0000777HP:0000778Hypoplasia of the thymus2NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0000777HP:0000778Hypoplasia of the thymus2PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0000777HP:0000778Hypoplasia of the thymus2PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040283 - Occasional11
HP:0000777HP:0000778Hypoplasia of the thymus2PLXND1 CL E G H231299107ORPHA:3384Truncus arteriosusHP:0040283 - Occasional
HP:0000777HP:0000778Hypoplasia of the thymus2POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0000777HP:0000778Hypoplasia of the thymus2POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0000777HP:0000778Hypoplasia of the thymus2POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0000777HP:0000778Hypoplasia of the thymus2POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0000777HP:0000778Hypoplasia of the thymus2RAG1 CL E G H58969831OMIM:603554Omenn syndrome.127
HP:0000777HP:0000778Hypoplasia of the thymus2RAG2 CL E G H58979832OMIM:603554Omenn syndrome.50
HP:0000777HP:0000778Hypoplasia of the thymus2RORC CL E G H609710260OMIM:616622Immunodeficiency 42.5
HP:0000777HP:0000778Hypoplasia of the thymus2RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0000777HP:0000778Hypoplasia of the thymus2SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0000777HP:0000778Hypoplasia of the thymus2SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0000777HP:0000778Hypoplasia of the thymus2SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040284 - Very rare
HP:0000777HP:0000778Hypoplasia of the thymus2TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent32
HP:0000777HP:0000778Hypoplasia of the thymus2TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0000777HP:0000778Hypoplasia of the thymus2TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0000777HP:0000778Hypoplasia of the thymus2TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040283 - Occasional140
HP:0000777HP:0000778Hypoplasia of the thymus2TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040283 - Occasional26
HP:0000777HP:0000778Hypoplasia of the thymus2TTC7A CL E G H5721719750OMIM:243150Gastrointestinal defects and immunodeficiency syndromeHP:0040283 - Occasional26
HP:0000777HP:0000778Hypoplasia of the thymus2UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040281 - Very frequent
HP:0000777HP:0000778Hypoplasia of the thymus2WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional65
HP:0000777HP:0000778Hypoplasia of the thymus2WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional6


Genes (52) :ADA AK2 AKT1 ALG14 ANTXR2 ARVCF ATM CDKN1A CDKN1B CDKN2B CDKN2C CHD7 COMT DCLRE1C EPG5 ERCC8 FRAS1 G6PC3 GP1BB HIRA IL2RG JMJD1C MCM10 MEN1 MTHFR NEK9 NKX2-6 NSMCE3 PEX5 PI4KA PLXND1 POLR1B POLR1C POLR1D POLR3A PTEN RAG1 RAG2 RORC RREB1 SEC24C SKIC2 SKIC3 TBX1 TCOF1 TFAP2A TP63 TTC7A UFD1 VANGL2 WAS WIPF1

Diseases (37) :OMIM:102700 OMIM:267500 ORPHA:33355 ORPHA:744 OMIM:619036 ORPHA:2176 ORPHA:567 OMIM:208900 ORPHA:100 ORPHA:652 ORPHA:276152 OMIM:214800 OMIM:603554 OMIM:602450 OMIM:242840 OMIM:216400 OMIM:219000 OMIM:612541 OMIM:300400 OMIM:619313 ORPHA:563609 OMIM:617022 ORPHA:3384 OMIM:617241 OMIM:214110 ORPHA:436252 ORPHA:861 OMIM:264090 ORPHA:2969 OMIM:616622 ORPHA:84064 ORPHA:1727 OMIM:188400 OMIM:113620 ORPHA:1896 OMIM:243150 ORPHA:906
 

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