Human Phenotype Ontology 
..Starting node
..expandAplasia/Hypoplasia of the thyroid gland (HP:0033079)help
Term ID: 33079
Name: Aplasia/Hypoplasia of the thyroid gland
Synonym:
Definition: Absence or underdevelopment of the thyroid gland.
Comments:
Reference: HP:0033079
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidism121
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0FOXE1 CL E G H23043806ORPHA:95713Athyreosis9
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0FOXE1 CL E G H23043806ORPHA:1226Bamforth-Lazarus syndrome9
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0FOXE1 CL E G H23043806OMIM:241850Hypothyroidism, athyroidal, with spiky hair and cleft palate9
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0IRS4 CL E G H84716128OMIM:301035HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS type141
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function51
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function43
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0NKX2-1 CL E G H708011825ORPHA:95713Athyreosis51
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndrome51
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0NKX2-5 CL E G H14822488ORPHA:95713Athyreosis90
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0NKX2-5 CL E G H14822488OMIM:225250Hypothyroidism, congenital, nongoitrous, 590
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0PAX8 CL E G H78498622ORPHA:95713Athyreosis63
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 263
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0PAX8 CL E G H78498622ORPHA:95720Thyroid hypoplasia63
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function36
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function54
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0SLC26A4 CL E G H51728818ORPHA:95713Athyreosis274
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0SLC26A4 CL E G H51728818ORPHA:95720Thyroid hypoplasia274
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0TRHR CL E G H720112299ORPHA:99832Resistance to thyrotropin-releasing hormone syndrome2
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiency9
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0TSHR CL E G H725312373ORPHA:95713Athyreosis97
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0TSHR CL E G H725312373ORPHA:90673Hypothyroidism due to TSH receptor mutations97
HP:0033079HP:0033079Aplasia/Hypoplasia of the thyroid gland0TSHR CL E G H725312373ORPHA:95720Thyroid hypoplasia97
HP:0033079HP:0005990Thyroid hypoplasia1ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0033079HP:0005990Thyroid hypoplasia1DUOX2 CL E G H5050613273ORPHA:226316Genetic transient congenital hypothyroidismHP:0040284 - Very rare121
HP:0033079HP:0008191Thyroid agenesis1FOXE1 CL E G H23043806ORPHA:95713AthyreosisHP:0040281 - Very frequent9
HP:0033079HP:0008191Thyroid agenesis1FOXE1 CL E G H23043806ORPHA:1226Bamforth-Lazarus syndromeHP:0040281 - Very frequent9
HP:0033079HP:0008191Thyroid agenesis1FOXE1 CL E G H23043806OMIM:241850Hypothyroidism, athyroidal, with spiky hair and cleft palate.9
HP:0033079HP:0005990Thyroid hypoplasia1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0033079HP:0005990Thyroid hypoplasia1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0033079HP:0005990Thyroid hypoplasia1HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent21
HP:0033079HP:0005990Thyroid hypoplasia1IRS4 CL E G H84716128OMIM:301035HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0033079HP:0005990Thyroid hypoplasia1KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040282 - Frequent141
HP:0033079HP:0008191Thyroid agenesis1KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040282 - Frequent141
HP:0033079HP:0005990Thyroid hypoplasia1LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent51
HP:0033079HP:0005990Thyroid hypoplasia1LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent43
HP:0033079HP:0008191Thyroid agenesis1NKX2-1 CL E G H708011825ORPHA:95713AthyreosisHP:0040281 - Very frequent51
HP:0033079HP:0011780Thyroid hemiagenesis1NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0033079HP:0008191Thyroid agenesis1NKX2-5 CL E G H14822488ORPHA:95713AthyreosisHP:0040281 - Very frequent90
HP:0033079HP:0005990Thyroid hypoplasia1NKX2-5 CL E G H14822488OMIM:225250Hypothyroidism, congenital, nongoitrous, 5.90
HP:0033079HP:0005990Thyroid hypoplasia1NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defectsHP:0040283 - Occasional34
HP:0033079HP:0008191Thyroid agenesis1PAX8 CL E G H78498622ORPHA:95713AthyreosisHP:0040281 - Very frequent63
HP:0033079HP:0005990Thyroid hypoplasia1PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 2.63
HP:0033079HP:0008191Thyroid agenesis1PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 2.63
HP:0033079HP:0005990Thyroid hypoplasia1PAX8 CL E G H78498622ORPHA:95720Thyroid hypoplasiaHP:0040281 - Very frequent63
HP:0033079HP:0005990Thyroid hypoplasia1POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0033079HP:0005990Thyroid hypoplasia1POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0033079HP:0005990Thyroid hypoplasia1POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0033079HP:0005990Thyroid hypoplasia1POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent36
HP:0033079HP:0005990Thyroid hypoplasia1PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent54
HP:0033079HP:0008191Thyroid agenesis1SLC26A4 CL E G H51728818ORPHA:95713AthyreosisHP:0040281 - Very frequent274
HP:0033079HP:0005990Thyroid hypoplasia1SLC26A4 CL E G H51728818ORPHA:95720Thyroid hypoplasiaHP:0040281 - Very frequent274
HP:0033079HP:0005990Thyroid hypoplasia1TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0033079HP:0005990Thyroid hypoplasia1TRHR CL E G H720112299ORPHA:99832Resistance to thyrotropin-releasing hormone syndromeHP:0040282 - Frequent2
HP:0033079HP:0005990Thyroid hypoplasia1TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040281 - Very frequent9
HP:0033079HP:0008191Thyroid agenesis1TSHR CL E G H725312373ORPHA:95713AthyreosisHP:0040281 - Very frequent97
HP:0033079HP:0005990Thyroid hypoplasia1TSHR CL E G H725312373ORPHA:90673Hypothyroidism due to TSH receptor mutationsHP:0040283 - Occasional97
HP:0033079HP:0005990Thyroid hypoplasia1TSHR CL E G H725312373ORPHA:95720Thyroid hypoplasiaHP:0040281 - Very frequent97


Genes (24) :ADAMTSL1 DUOX2 FOXE1 GLI3 GNB2 HESX1 IRS4 KAT6B LHX3 LHX4 NKX2-1 NKX2-5 NSDHL PAX8 POLR1B POLR1C POLR1D POU1F1 PROP1 SLC26A4 TCOF1 TRHR TSHB TSHR

Diseases (19) :ORPHA:521445 ORPHA:226316 ORPHA:95713 ORPHA:1226 OMIM:241850 ORPHA:672 OMIM:619503 ORPHA:226307 OMIM:301035 ORPHA:3047 ORPHA:209905 OMIM:225250 OMIM:308050 OMIM:218700 ORPHA:95720 ORPHA:861 ORPHA:99832 ORPHA:90674 ORPHA:90673
 

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