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
..Central hypothyroidism (HP:0011787)

Term ID:

11787

Name:

Central hypothyroidism

Synonym:

Definition:

A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.

Comments:

Reference:

HP:0011787

Genes and Diseases:

Child Nodes:

........

Hypothalamic hypothyroidism (HP:0008237)

........

Pituitary hypothyroidism (HP:0008245)

Sister Nodes:

Compensated hypothyroidism (HP:0008223)

Congenital hypothyroidism (HP:0000851)

Primary hypothyroidism (HP:0000832)

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:0011787	HP:0011787	Central hypothyroidism	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma		95
HP:0011787	HP:0011787	Central hypothyroidism	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0011787	HP:0011787	Central hypothyroidism	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0011787	HP:0011787	Central hypothyroidism	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0011787	HP:0011787	Central hypothyroidism	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma		276
HP:0011787	HP:0011787	Central hypothyroidism	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma		636
HP:0011787	HP:0011787	Central hypothyroidism	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0011787	HP:0011787	Central hypothyroidism	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0011787	HP:0011787	Central hypothyroidism	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	200
HP:0011787	HP:0011787	Central hypothyroidism	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	200
HP:0011787	HP:0011787	Central hypothyroidism	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0011787	HP:0011787	Central hypothyroidism	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma		88
HP:0011787	HP:0011787	Central hypothyroidism	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0011787	HP:0011787	Central hypothyroidism	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0011787	HP:0011787	Central hypothyroidism	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	22
HP:0011787	HP:0011787	Central hypothyroidism	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	22
HP:0011787	HP:0011787	Central hypothyroidism	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0011787	HP:0011787	Central hypothyroidism	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0011787	HP:0011787	Central hypothyroidism	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	3
HP:0011787	HP:0011787	Central hypothyroidism	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	3
HP:0011787	HP:0011787	Central hypothyroidism	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040283 - Occasional	3
HP:0011787	HP:0011787	Central hypothyroidism	0	DMXL2 CL E G H	23312	2938	OMIM:616113	Polyendocrine-Polyneuropathy syndrome	.	3
HP:0011787	HP:0011787	Central hypothyroidism	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional	65
HP:0011787	HP:0011787	Central hypothyroidism	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0011787	HP:0011787	Central hypothyroidism	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0011787	HP:0011787	Central hypothyroidism	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	17
HP:0011787	HP:0011787	Central hypothyroidism	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	17
HP:0011787	HP:0011787	Central hypothyroidism	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0011787	HP:0011787	Central hypothyroidism	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	172
HP:0011787	HP:0011787	Central hypothyroidism	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0011787	HP:0011787	Central hypothyroidism	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0011787	HP:0011787	Central hypothyroidism	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0011787	HP:0011787	Central hypothyroidism	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	48
HP:0011787	HP:0011787	Central hypothyroidism	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	48
HP:0011787	HP:0011787	Central hypothyroidism	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0011787	HP:0011787	Central hypothyroidism	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0011787	HP:0011787	Central hypothyroidism	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	2
HP:0011787	HP:0011787	Central hypothyroidism	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	2
HP:0011787	HP:0011787	Central hypothyroidism	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0011787	HP:0011787	Central hypothyroidism	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0011787	HP:0011787	Central hypothyroidism	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0011787	HP:0011787	Central hypothyroidism	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	173
HP:0011787	HP:0011787	Central hypothyroidism	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	173
HP:0011787	HP:0011787	Central hypothyroidism	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0011787	HP:0011787	Central hypothyroidism	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0011787	HP:0011787	Central hypothyroidism	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0011787	HP:0011787	Central hypothyroidism	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011787	HP:0011787	Central hypothyroidism	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional	229
HP:0011787	HP:0011787	Central hypothyroidism	0	IRS4 CL E G H	8471	6128	OMIM:301035	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9
HP:0011787	HP:0011787	Central hypothyroidism	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0011787	HP:0011787	Central hypothyroidism	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency		47
HP:0011787	HP:0011787	Central hypothyroidism	0	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency		46
HP:0011787	HP:0011787	Central hypothyroidism	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency		46
HP:0011787	HP:0011787	Central hypothyroidism	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0011787	HP:0011787	Central hypothyroidism	0	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome		51
HP:0011787	HP:0011787	Central hypothyroidism	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0011787	HP:0011787	Central hypothyroidism	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0011787	HP:0011787	Central hypothyroidism	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0011787	HP:0011787	Central hypothyroidism	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	63
HP:0011787	HP:0011787	Central hypothyroidism	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	63
HP:0011787	HP:0011787	Central hypothyroidism	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	63
HP:0011787	HP:0011787	Central hypothyroidism	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma		462
HP:0011787	HP:0011787	Central hypothyroidism	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0011787	HP:0011787	Central hypothyroidism	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0011787	HP:0011787	Central hypothyroidism	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0011787	HP:0011787	Central hypothyroidism	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0011787	HP:0011787	Central hypothyroidism	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0011787	HP:0011787	Central hypothyroidism	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.	55
HP:0011787	HP:0011787	Central hypothyroidism	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0011787	HP:0011787	Central hypothyroidism	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0011787	HP:0011787	Central hypothyroidism	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	45
HP:0011787	HP:0011787	Central hypothyroidism	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	45
HP:0011787	HP:0011787	Central hypothyroidism	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	121
HP:0011787	HP:0011787	Central hypothyroidism	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	121
HP:0011787	HP:0011787	Central hypothyroidism	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	121
HP:0011787	HP:0011787	Central hypothyroidism	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		41
HP:0011787	HP:0011787	Central hypothyroidism	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency		65
HP:0011787	HP:0011787	Central hypothyroidism	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0011787	HP:0011787	Central hypothyroidism	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0011787	HP:0011787	Central hypothyroidism	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0011787	HP:0011787	Central hypothyroidism	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency		27
HP:0011787	HP:0011787	Central hypothyroidism	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		36
HP:0011787	HP:0011787	Central hypothyroidism	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0011787	HP:0011787	Central hypothyroidism	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome		40
HP:0011787	HP:0011787	Central hypothyroidism	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		54
HP:0011787	HP:0011787	Central hypothyroidism	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0011787	HP:0011787	Central hypothyroidism	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism		54
HP:0011787	HP:0011787	Central hypothyroidism	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0011787	HP:0011787	Central hypothyroidism	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0011787	HP:0011787	Central hypothyroidism	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	665
HP:0011787	HP:0011787	Central hypothyroidism	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	665
HP:0011787	HP:0011787	Central hypothyroidism	0	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome		1
HP:0011787	HP:0011787	Central hypothyroidism	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0011787	HP:0011787	Central hypothyroidism	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0011787	HP:0011787	Central hypothyroidism	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0011787	HP:0011787	Central hypothyroidism	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0011787	HP:0011787	Central hypothyroidism	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	67
HP:0011787	HP:0011787	Central hypothyroidism	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	67
HP:0011787	HP:0011787	Central hypothyroidism	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0011787	HP:0011787	Central hypothyroidism	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0011787	HP:0011787	Central hypothyroidism	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0011787	HP:0011787	Central hypothyroidism	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0011787	HP:0011787	Central hypothyroidism	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0011787	HP:0011787	Central hypothyroidism	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0011787	HP:0011787	Central hypothyroidism	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0011787	HP:0011787	Central hypothyroidism	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	135
HP:0011787	HP:0011787	Central hypothyroidism	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0011787	HP:0011787	Central hypothyroidism	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	37
HP:0011787	HP:0011787	Central hypothyroidism	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent	37
HP:0011787	HP:0011787	Central hypothyroidism	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent	37
HP:0011787	HP:0011787	Central hypothyroidism	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism		24
HP:0011787	HP:0011787	Central hypothyroidism	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0011787	HP:0011787	Central hypothyroidism	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0011787	HP:0011787	Central hypothyroidism	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0011787	HP:0011787	Central hypothyroidism	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0011787	HP:0011787	Central hypothyroidism	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	99
HP:0011787	HP:0011787	Central hypothyroidism	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	99
HP:0011787	HP:0011787	Central hypothyroidism	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0011787	HP:0011787	Central hypothyroidism	0	TBL1X CL E G H	6907	11585	OMIM:301033	Hypothyroidism, congenital, nongoitrous, 8		1
HP:0011787	HP:0011787	Central hypothyroidism	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0011787	HP:0011787	Central hypothyroidism	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0011787	HP:0011787	Central hypothyroidism	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	1
HP:0011787	HP:0011787	Central hypothyroidism	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	1
HP:0011787	HP:0011787	Central hypothyroidism	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0011787	HP:0011787	Central hypothyroidism	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0011787	HP:0011787	Central hypothyroidism	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0011787	HP:0011787	Central hypothyroidism	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	32
HP:0011787	HP:0011787	Central hypothyroidism	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	32
HP:0011787	HP:0011787	Central hypothyroidism	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome		166
HP:0011787	HP:0011787	Central hypothyroidism	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0011787	HP:0011787	Central hypothyroidism	0	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency		5
HP:0011787	HP:0011787	Central hypothyroidism	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome		2
HP:0011787	HP:0011787	Central hypothyroidism	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency		9
HP:0011787	HP:0011787	Central hypothyroidism	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0011787	HP:0011787	Central hypothyroidism	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0011787	HP:0011787	Central hypothyroidism	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional	34
HP:0011787	HP:0011787	Central hypothyroidism	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional	34
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	95
HP:0011787	HP:0008237	Hypothalamic hypothyroidism	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0011787	HP:0008237	Hypothalamic hypothyroidism	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	276
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	636
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	88
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	173
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	21
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	21
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	HID1 CL E G H	283987	15736	OMIM:619983
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent	47
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	LEPR CL E G H	3953	6554	OMIM:614963	Leptin receptor deficiency	.	46
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent	46
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	51
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	LHX3 CL E G H	8022	6595	ORPHA:231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	HP:0040281 - Very frequent	51
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	43
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	43
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent	462
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0011787	HP:0008237	Hypothalamic hypothyroidism	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	41
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040283 - Occasional	65
HP:0011787	HP:0008237	Hypothalamic hypothyroidism	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0011787	HP:0008237	Hypothalamic hypothyroidism	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040283 - Occasional	27
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	36
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	36
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent	54
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040281 - Very frequent	54
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	54
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	RBM28 CL E G H	55131	21863	ORPHA:157954	ANE syndrome	HP:0040283 - Occasional	1
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0011787	HP:0008237	Hypothalamic hypothyroidism	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0011787	HP:0008237	Hypothalamic hypothyroidism	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0011787	HP:0008237	Hypothalamic hypothyroidism	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040282 - Frequent	24
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0011787	HP:0008237	Hypothalamic hypothyroidism	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0011787	HP:0008237	Hypothalamic hypothyroidism	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.	166
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0011787	HP:0008237	Hypothalamic hypothyroidism	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0011787	HP:0008237	Hypothalamic hypothyroidism	1	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency	.	5
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0011787	HP:0008245	Pituitary hypothyroidism	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040281 - Very frequent	9

Genes (72) :AIP AKT1 ARNT2 BAP1 BRAF CDH23 CDON CPE CTNNB1 DISP1 DLL1 DMXL2 EIF2AK3 FGF8 FGFR1 FOXA2 FOXH1 GAS1 GLI2 GLI3 HESX1 HID1 INSR IRS4 KATNIP LEP LEPR LHX3 LHX4 MAGEL2 MEN1 NDN NEXMIF NF2 NIN NODAL OCA2 OTX2 PCSK1 PDGFB PIK3CA PLCH1 POMC POU1F1 POU3F4 PROP1 PTCH1 RBM28 RPL10 SETBP1 SHH SIM1 SIX3 SMARCB1 SMARCE1 SMC1A SMO SNRPN SOX3 STAG2 STIL SUFU TBL1X TDGF1 TERT TGIF1 TMEM67 TRAF7 TRH TRHR TSHB ZIC2

Diseases (42) :ORPHA:2965 ORPHA:2495 OMIM:615926 ORPHA:54595 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:619326 ORPHA:453533 OMIM:616113 ORPHA:1667 ORPHA:95494 ORPHA:672 ORPHA:226307 OMIM:619983 ORPHA:508 OMIM:301035 OMIM:616784 ORPHA:66628 OMIM:614963 ORPHA:179494 ORPHA:231720 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:300912 OMIM:614851 ORPHA:71528 ORPHA:71526 ORPHA:1435 ORPHA:90695 ORPHA:157954 OMIM:300998 ORPHA:798 ORPHA:398079 OMIM:301033 OMIM:602152 OMIM:275120 ORPHA:99832 ORPHA:90674

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