Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of thyroid physiology (HP:0002926)

Parent Node:
Hypothyroidism (HP:0000821)

..Starting node
..Congenital hypothyroidism (HP:0000851)

Term ID:

851

Name:

Congenital hypothyroidism

Synonym:

Hypothyroidism, congenital; Underactive thyroid gland from birth

Definition:

A type of hypothyroidism with congenital onset.

Comments:

Reference:

HP:0000851

Genes and Diseases:

Child Nodes:

Sister Nodes:

Central hypothyroidism (HP:0011787)

Compensated hypothyroidism (HP:0008223)

Primary hypothyroidism (HP:0000832)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000851	HP:0000851	Congenital hypothyroidism	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0000851	HP:0000851	Congenital hypothyroidism	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		5
HP:0000851	HP:0000851	Congenital hypothyroidism	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional		36
HP:0000851	HP:0000851	Congenital hypothyroidism	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		121
HP:0000851	HP:0000851	Congenital hypothyroidism	0	DUOX2 CL E G H	50506	13273	OMIM:607200	Thyroid dyshormonogenesis 6	.		121
HP:0000851	HP:0000851	Congenital hypothyroidism	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		11
HP:0000851	HP:0000851	Congenital hypothyroidism	0	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome	HP:0040281 - Very frequent		9
HP:0000851	HP:0000851	Congenital hypothyroidism	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional		37
HP:0000851	HP:0000851	Congenital hypothyroidism	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.	HP:0003623 - Neonatal onset	143
HP:0000851	HP:0000851	Congenital hypothyroidism	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000851	HP:0000851	Congenital hypothyroidism	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		130
HP:0000851	HP:0000851	Congenital hypothyroidism	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0000851	HP:0000851	Congenital hypothyroidism	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0000851	HP:0000851	Congenital hypothyroidism	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		94
HP:0000851	HP:0000851	Congenital hypothyroidism	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		26
HP:0000851	HP:0000851	Congenital hypothyroidism	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040282 - Frequent		51
HP:0000851	HP:0000851	Congenital hypothyroidism	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	.		51
HP:0000851	HP:0000851	Congenital hypothyroidism	0	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5	.		90
HP:0000851	HP:0000851	Congenital hypothyroidism	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		13
HP:0000851	HP:0000851	Congenital hypothyroidism	0	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	HP:0040283 - Occasional		13
HP:0000851	HP:0000851	Congenital hypothyroidism	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.		63
HP:0000851	HP:0000851	Congenital hypothyroidism	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	HP:0040283 - Occasional		113
HP:0000851	HP:0000851	Congenital hypothyroidism	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		113
HP:0000851	HP:0000851	Congenital hypothyroidism	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0000851	HP:0000851	Congenital hypothyroidism	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0000851	HP:0000851	Congenital hypothyroidism	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent		134
HP:0000851	HP:0000851	Congenital hypothyroidism	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		59
HP:0000851	HP:0000851	Congenital hypothyroidism	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		45
HP:0000851	HP:0000851	Congenital hypothyroidism	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		271
HP:0000851	HP:0000851	Congenital hypothyroidism	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		155
HP:0000851	HP:0000851	Congenital hypothyroidism	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.		9
HP:0000851	HP:0000851	Congenital hypothyroidism	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	HP:0040284 - Very rare
HP:0000851	HP:0000851	Congenital hypothyroidism	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		92
HP:0000851	HP:0000851	Congenital hypothyroidism	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent		158
HP:0000851	HP:0000851	Congenital hypothyroidism	0	TSHB CL E G H	7252	12372	OMIM:275100	Hypothyroidism, congenital, nongoitrous, 4	.		9
HP:0000851	HP:0000851	Congenital hypothyroidism	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040281 - Very frequent		97
HP:0000851	HP:0000851	Congenital hypothyroidism	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		85
HP:0000851	HP:0000851	Congenital hypothyroidism	0	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10

Genes (33) :ADAMTSL1 ATP6V1B2 B3GLCT DUOX2 DUOXA2 FOXE1 GATA6 GLIS3 GNB1 IYD KDM6A KMT2D MC2R MRAP NKX2-1 NKX2-5 NNT PAX8 PDE4D PLAA PRKAR1A SLC5A5 STAR TBC1D24 TG THRA TONSL TPO TRAPPC9 TSHB TSHR TXNRD2 YRDC

Diseases (26) :ORPHA:521445 ORPHA:79500 ORPHA:709 ORPHA:95716 OMIM:607200 ORPHA:1226 ORPHA:2255 OMIM:610199 OMIM:616973 OMIM:147920 ORPHA:361 ORPHA:209905 OMIM:610978 OMIM:225250 OMIM:614736 OMIM:218700 OMIM:614613 ORPHA:280651 OMIM:617527 OMIM:101800 OMIM:614450 OMIM:271510 ORPHA:352530 OMIM:275100 ORPHA:90673 OMIM:619609

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen