Human Phenotype Ontology

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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:
Abnormal thyroid morphology (HP:0011772)

Parent Node:
Thyroid dysgenesis (HP:0008188)

..Starting node
..Thyroid hypoplasia (HP:0005990)

Term ID:

5990

Name:

Thyroid hypoplasia

Synonym:

Hypoplastic thyroid; Small thyroid gland

Definition:

Developmental hypoplasia of the thyroid gland.

Comments:

Reference:

HP:0005990

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ectopic thyroid (HP:0100028)

Thyroid agenesis (HP:0008191)

Thyroid hemiagenesis (HP:0011780)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005990	HP:0005990	Thyroid hypoplasia	0	ADAMTSL1 CL E G H	92949	14632	ORPHA:521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	HP:0040282 - Frequent
HP:0005990	HP:0005990	Thyroid hypoplasia	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040284 - Very rare	121
HP:0005990	HP:0005990	Thyroid hypoplasia	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0005990	HP:0005990	Thyroid hypoplasia	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0005990	HP:0005990	Thyroid hypoplasia	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	21
HP:0005990	HP:0005990	Thyroid hypoplasia	0	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0005990	HP:0005990	Thyroid hypoplasia	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0005990	HP:0005990	Thyroid hypoplasia	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	51
HP:0005990	HP:0005990	Thyroid hypoplasia	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	43
HP:0005990	HP:0005990	Thyroid hypoplasia	0	NKX2-5 CL E G H	1482	2488	OMIM:225250	Hypothyroidism, congenital, nongoitrous, 5	.	90
HP:0005990	HP:0005990	Thyroid hypoplasia	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	HP:0040283 - Occasional	34
HP:0005990	HP:0005990	Thyroid hypoplasia	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0005990	HP:0005990	Thyroid hypoplasia	0	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent	63
HP:0005990	HP:0005990	Thyroid hypoplasia	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0005990	HP:0005990	Thyroid hypoplasia	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0005990	HP:0005990	Thyroid hypoplasia	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0005990	HP:0005990	Thyroid hypoplasia	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	36
HP:0005990	HP:0005990	Thyroid hypoplasia	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent	54
HP:0005990	HP:0005990	Thyroid hypoplasia	0	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent	274
HP:0005990	HP:0005990	Thyroid hypoplasia	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0005990	HP:0005990	Thyroid hypoplasia	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0005990	HP:0005990	Thyroid hypoplasia	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040281 - Very frequent	9
HP:0005990	HP:0005990	Thyroid hypoplasia	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional	97
HP:0005990	HP:0005990	Thyroid hypoplasia	0	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent	97

Genes (22) :ADAMTSL1 DUOX2 GLI3 GNB2 HESX1 IRS4 KAT6B LHX3 LHX4 NKX2-5 NSDHL PAX8 POLR1B POLR1C POLR1D POU1F1 PROP1 SLC26A4 TCOF1 TRHR TSHB TSHR

Diseases (15) :ORPHA:521445 ORPHA:226316 ORPHA:672 OMIM:619503 ORPHA:226307 OMIM:301035 ORPHA:3047 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.

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