Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | | | | 19 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2176 | Infantile systemic hyalinosis | | | | 49 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | | | | 3267 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | FRAS1 CL E G H | 80144 | 19185 | OMIM:219000 | Fraser syndrome | . | | | 353 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563609 | Isolated anencephaly | | | | 183 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | | | | 9 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3384 | Truncus arteriosus | | | | 3 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | | | | 99 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 11 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:3384 | Truncus arteriosus | | | | | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | | | | | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | | | | 38 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | | | | 31 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | | | | 948 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | RORC CL E G H | 6097 | 10260 | OMIM:616622 | Immunodeficiency 42 | | | | 5 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:1727 | 22q11.2 duplication syndrome | | | | 32 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | | | | 140 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | | | | 140 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 26 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563609 | Isolated anencephaly | | | | 2 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0000777 | HP:0000777 | Abnormality of the thymus | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 6 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | HP:0040281 - Very frequent | | | 19 | | |
HP:0000777 | HP:0100521 | Neoplasm of the thymus | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000777 | HP:0010516 | Thymus hyperplasia | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000777 | HP:0010516 | Thymus hyperplasia | 1 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2176 | Infantile systemic hyalinosis | HP:0040281 - Very frequent | | | 49 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | ATM CL E G H | 472 | 795 | ORPHA:100 | Ataxia-telangiectasia | HP:0040281 - Very frequent | | | 3267 | | |
HP:0000777 | HP:0100521 | Neoplasm of the thymus | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0000777 | HP:0100521 | Neoplasm of the thymus | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0000777 | HP:0100521 | Neoplasm of the thymus | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0000777 | HP:0100521 | Neoplasm of the thymus | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0000777 | HP:0100521 | Neoplasm of the thymus | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0000777 | HP:0003357 | Thymic hormone decreased | 1 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | | | | 48 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0000777 | HP:0100521 | Neoplasm of the thymus | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0000777 | HP:0010516 | Thymus hyperplasia | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563609 | Isolated anencephaly | HP:0040283 - Occasional | | | 183 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | | | | 9 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3384 | Truncus arteriosus | | | | 3 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | | | | 99 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 11 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:3384 | Truncus arteriosus | | | | | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | | | | | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | | | | 38 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | | | | 31 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0000777 | HP:0010516 | Thymus hyperplasia | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000777 | HP:0100521 | Neoplasm of the thymus | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000777 | HP:0010516 | Thymus hyperplasia | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | RORC CL E G H | 6097 | 10260 | OMIM:616622 | Immunodeficiency 42 | | | | 5 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | | | | | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:1727 | 22q11.2 duplication syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | | | | 140 | | |
HP:0000777 | HP:0010517 | Ectopic thymus tissue | 1 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | | | | 140 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | | | | 26 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | | | | 26 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000777 | HP:0010516 | Thymus hyperplasia | 1 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563609 | Isolated anencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0000777 | HP:0010515 | Aplasia/Hypoplasia of the thymus | 1 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 6 | | |
HP:0000777 | HP:0005359 | Aplasia of the thymus | 2 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | . | | | 75 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0000777 | HP:0100522 | Thymoma | 2 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0000777 | HP:0100522 | Thymoma | 2 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 102 | | |
HP:0000777 | HP:0100522 | Thymoma | 2 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040284 - Very rare | | | 102 | | |
HP:0000777 | HP:0100522 | Thymoma | 2 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 1 | | |
HP:0000777 | HP:0100522 | Thymoma | 2 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0000777 | HP:0005359 | Aplasia of the thymus | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | . | | | 94 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | . | | | 48 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0000777 | HP:0100522 | Thymoma | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 462 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | . | | | 9 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3384 | Truncus arteriosus | HP:0040283 - Occasional | | | 3 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | PI4KA CL E G H | 5297 | 8983 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040283 - Occasional | | | 11 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:3384 | Truncus arteriosus | HP:0040283 - Occasional | | | | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | RORC CL E G H | 6097 | 10260 | OMIM:616622 | Immunodeficiency 42 | . | | | 5 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040284 - Very rare | | | | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | 32 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | TTC7A CL E G H | 57217 | 19750 | ORPHA:436252 | Combined immunodeficiency-enteropathy spectrum | HP:0040283 - Occasional | | | 26 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | HP:0040283 - Occasional | | | 26 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000777 | HP:0000778 | Hypoplasia of the thymus | 2 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 6 | | |