Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the thyroid gland (HP:0000820)help
Parent Node:
expandAbnormal thyroid morphology (HP:0011772)help
..Starting node
..expandThyroid dysgenesis (HP:0008188)help
Term ID: 8188
Name: Thyroid dysgenesis
Synonym: Thyroid dysplasia
Definition:
Comments:
Reference: HP:0008188
Genes and Diseases:
 
       Child Nodes:
........expandThyroid hypoplasia (HP:0005990) help
........expandThyroid agenesis (HP:0008191) help
........expandThyroid hemiagenesis (HP:0011780) help
........expandEctopic thyroid (HP:0100028) help
................... HP:0100029 Lingual thyroid
................... HP:0100030 Accessory ectopic thyroid tissue

 Sister Nodes: 
..expandGoiter (HP:0000853) help
..expandNeoplasm of the thyroid gland (HP:0100031) help
..expandThyroglossal cyst (HP:0010518) help
..expandThyroid hyperplasia (HP:0008249) help
..expandThyroid lymphangiectasia (HP:0008229) help
..expandThyroid nodule (HP:0025388) help
..expandThyroiditis (HP:0100646) 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:0008188HP:0008188Thyroid dysgenesis0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome.270
HP:0008188HP:0008188Thyroid dysgenesis0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040282 - Frequent141
HP:0008188HP:0008188Thyroid dysgenesis0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndrome144
HP:0008188HP:0008188Thyroid dysgenesis0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0008188HP:0008188Thyroid dysgenesis0NKX2-5 CL E G H14822488OMIM:225250Hypothyroidism, congenital, nongoitrous, 590
HP:0008188HP:0008188Thyroid dysgenesis0NKX2-5 CL E G H14822488ORPHA:95712Thyroid ectopia90
HP:0008188HP:0008188Thyroid dysgenesis0PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 263
HP:0008188HP:0008188Thyroid dysgenesis0PAX8 CL E G H78498622ORPHA:95712Thyroid ectopia63
HP:0008188HP:0100028Ectopic thyroid1KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040282 - Frequent141
HP:0008188HP:0100028Ectopic thyroid1LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040283 - Occasional144
HP:0008188HP:0100028Ectopic thyroid1NKX2-5 CL E G H14822488OMIM:225250Hypothyroidism, congenital, nongoitrous, 5.90
HP:0008188HP:0100028Ectopic thyroid1NKX2-5 CL E G H14822488ORPHA:95712Thyroid ectopiaHP:0040281 - Very frequent90
HP:0008188HP:0100028Ectopic thyroid1PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 2.63
HP:0008188HP:0100028Ectopic thyroid1PAX8 CL E G H78498622ORPHA:95712Thyroid ectopiaHP:0040281 - Very frequent63
HP:0008188HP:0100030Accessory ectopic thyroid tissue2 CL E G H
HP:0008188HP:0100029Lingual thyroid2 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.