Term ID: |
8188 |
Name: |
Thyroid dysgenesis |
Synonym: |
Thyroid dysplasia |
Definition: |
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Comments: |
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Reference: |
HP:0008188 |
Genes and Diseases: | |
Child Nodes: |
........Thyroid hypoplasia (HP:0005990) |
........Thyroid agenesis (HP:0008191) |
........Thyroid hemiagenesis (HP:0011780) |
........Ectopic thyroid (HP:0100028) ................... HP:0100029 Lingual thyroid ................... HP:0100030 Accessory ectopic thyroid tissue |
Sister Nodes: |
..Goiter (HP:0000853)
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..Neoplasm of the thyroid gland (HP:0100031)
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..Thyroglossal cyst (HP:0010518)
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..Thyroid hyperplasia (HP:0008249)
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..Thyroid lymphangiectasia (HP:0008229)
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..Thyroid nodule (HP:0025388)
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..Thyroiditis (HP:0100646)
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Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0008188 | HP:0008188 | Thyroid dysgenesis | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | . | | | 270 | | | HP:0008188 | HP:0008188 | Thyroid dysgenesis | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type | HP:0040282 - Frequent | | | 141 | | | HP:0008188 | HP:0008188 | Thyroid dysgenesis | 0 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | | | | 144 | | | HP:0008188 | HP:0008188 | Thyroid dysgenesis | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040283 - Occasional | | | 51 | | | HP:0008188 | HP:0008188 | Thyroid dysgenesis | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:225250 | Hypothyroidism, congenital, nongoitrous, 5 | | | | 90 | | | HP:0008188 | HP:0008188 | Thyroid dysgenesis | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95712 | Thyroid ectopia | | | | 90 | | | HP:0008188 | HP:0008188 | Thyroid dysgenesis | 0 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | | | | 63 | | | HP:0008188 | HP:0008188 | Thyroid dysgenesis | 0 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95712 | Thyroid ectopia | | | | 63 | | | HP:0008188 | HP:0100028 | Ectopic thyroid | 1 | KAT6B CL E G H | 23522 | 17582 | ORPHA:3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type | HP:0040282 - Frequent | | | 141 | | | HP:0008188 | HP:0100028 | Ectopic thyroid | 1 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | HP:0040283 - Occasional | | | 144 | | | HP:0008188 | HP:0100028 | Ectopic thyroid | 1 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:225250 | Hypothyroidism, congenital, nongoitrous, 5 | . | | | 90 | | | HP:0008188 | HP:0100028 | Ectopic thyroid | 1 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:95712 | Thyroid ectopia | HP:0040281 - Very frequent | | | 90 | | | HP:0008188 | HP:0100028 | Ectopic thyroid | 1 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | . | | | 63 | | | HP:0008188 | HP:0100028 | Ectopic thyroid | 1 | PAX8 CL E G H | 7849 | 8622 | ORPHA:95712 | Thyroid ectopia | HP:0040281 - Very frequent | | | 63 | | | HP:0008188 | HP:0100030 | Accessory ectopic thyroid tissue | 2 | CL E G H | | | | | | | | | | | HP:0008188 | HP:0100029 | Lingual thyroid | 2 | CL E G H | | | | | | | | | | |
Genes (6) :GLI3 KAT6B LIFR NKX2-1 NKX2-5 PAX8
Diseases (7) :OMIM:146510 ORPHA:3047 ORPHA:3206 ORPHA:209905 OMIM:225250 ORPHA:95712 OMIM:218700 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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