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 the endocrine system (HP:0000818)

Parent Node:
Abnormality of the parathyroid gland (HP:0000828)

..Starting node
..Abnormality of the parathyroid morphology (HP:0011766)

Term ID:

11766

Name:

Abnormality of the parathyroid morphology

Synonym:

Definition:

A structural abnormality of the parathyroid gland.

Comments:

Reference:

HP:0011766

Genes and Diseases:

Child Nodes:

........

Parathyroid hyperplasia (HP:0008208)

........

Parathyroid dysgenesis (HP:0011768)

................... HP:0000860 Parathyroid hypoplasia
................... HP:0008211 Parathyroid agenesis
................... HP:0011769 Ectopic parathyroid

........

Neoplasm of the parathyroid gland (HP:0100733)

................... HP:0002897 Parathyroid adenoma
................... HP:0006780 Parathyroid carcinoma

Sister Nodes:

Abnormality of the parathyroid physiology (HP:0011767)

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:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I		272
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism		169
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2		169
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040281 - Very frequent	169
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma		169
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040281 - Very frequent	169
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome		332
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism		51
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland		51
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4		51
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome		15
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome		29
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism		462
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0011766	HP:0011766	Abnormality of the parathyroid morphology	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I		272
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism		169
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2		169
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma		169
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0011766	HP:0008208	Parathyroid hyperplasia	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	2
HP:0011766	HP:0008208	Parathyroid hyperplasia	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	102
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0011766	HP:0008208	Parathyroid hyperplasia	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040281 - Very frequent	102
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0011766	HP:0008208	Parathyroid hyperplasia	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	1
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011766	HP:0008208	Parathyroid hyperplasia	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent
HP:0011766	HP:0011768	Parathyroid dysgenesis	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome		332
HP:0011766	HP:0011768	Parathyroid dysgenesis	1	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome		83
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism		51
HP:0011766	HP:0011768	Parathyroid dysgenesis	1	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland		51
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4		51
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	15
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	29
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0011766	HP:0008208	Parathyroid hyperplasia	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	23
HP:0011766	HP:0008208	Parathyroid hyperplasia	1	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3		68
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism		462
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0011766	HP:0008208	Parathyroid hyperplasia	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040281 - Very frequent	462
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0011766	HP:0008208	Parathyroid hyperplasia	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0011766	HP:0011768	Parathyroid dysgenesis	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0011766	HP:0008208	Parathyroid hyperplasia	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	1090
HP:0011766	HP:0100733	Neoplasm of the parathyroid gland	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0011766	HP:0008208	Parathyroid hyperplasia	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	2738
HP:0011766	HP:0011769	Ectopic parathyroid	2	CL E G H
HP:0011766	HP:0002897	Parathyroid adenoma	2	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I	.	272
HP:0011766	HP:0002897	Parathyroid adenoma	2	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0011766	HP:0006780	Parathyroid carcinoma	2	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0011766	HP:0002897	Parathyroid adenoma	2	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0011766	HP:0002897	Parathyroid adenoma	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040280 - Obligate	169
HP:0011766	HP:0006780	Parathyroid carcinoma	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040280 - Obligate	169
HP:0011766	HP:0006780	Parathyroid carcinoma	2	CDC73 CL E G H	79577	16783	OMIM:608266	Parathyroid carcinoma	.	169
HP:0011766	HP:0006780	Parathyroid carcinoma	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	2
HP:0011766	HP:0006780	Parathyroid carcinoma	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	102
HP:0011766	HP:0002897	Parathyroid adenoma	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040281 - Very frequent	102
HP:0011766	HP:0006780	Parathyroid carcinoma	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional	102
HP:0011766	HP:0002897	Parathyroid adenoma	2	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0011766	HP:0006780	Parathyroid carcinoma	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	1
HP:0011766	HP:0006780	Parathyroid carcinoma	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare
HP:0011766	HP:0000860	Parathyroid hypoplasia	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0011766	HP:0002897	Parathyroid adenoma	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0011766	HP:0002897	Parathyroid adenoma	2	FLCN CL E G H	201163	27310	ORPHA:122	Birt-Hogg-Dubé syndrome	HP:0040283 - Occasional	332
HP:0011766	HP:0000860	Parathyroid hypoplasia	2	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040282 - Frequent	83
HP:0011766	HP:0002897	Parathyroid adenoma	2	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	51
HP:0011766	HP:0008211	Parathyroid agenesis	2	GCM2 CL E G H	9247	4198	ORPHA:2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	HP:0040280 - Obligate	51
HP:0011766	HP:0006780	Parathyroid carcinoma	2	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4	HP:0040283 - Occasional	51
HP:0011766	HP:0002897	Parathyroid adenoma	2	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	15
HP:0011766	HP:0002897	Parathyroid adenoma	2	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	29
HP:0011766	HP:0002897	Parathyroid adenoma	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	23
HP:0011766	HP:0002897	Parathyroid adenoma	2	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	462
HP:0011766	HP:0002897	Parathyroid adenoma	2	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0011766	HP:0006780	Parathyroid carcinoma	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040284 - Very rare	462
HP:0011766	HP:0002897	Parathyroid adenoma	2	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.	1952
HP:0011766	HP:0002897	Parathyroid adenoma	2	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA	.	572
HP:0011766	HP:0002897	Parathyroid adenoma	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0011766	HP:0008211	Parathyroid agenesis	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32
HP:0011766	HP:0000860	Parathyroid hypoplasia	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0011766	HP:0002897	Parathyroid adenoma	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	1090
HP:0011766	HP:0002897	Parathyroid adenoma	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040284 - Very rare	2738

Genes (22) :CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CHD7 CLCNKB FLCN GATA3 GCM2 IDH1 IDH2 IFNG KL MEN1 NF1 RET SLC12A3 TBX1 TSC1 TSC2

Diseases (23) :OMIM:145980 ORPHA:99879 OMIM:145001 ORPHA:99880 OMIM:608266 ORPHA:143 ORPHA:652 ORPHA:276152 OMIM:610755 OMIM:214800 ORPHA:358 ORPHA:122 ORPHA:2237 ORPHA:2239 OMIM:617343 ORPHA:163634 ORPHA:805 OMIM:617994 OMIM:131100 OMIM:162200 OMIM:171400 OMIM:162300 OMIM:188400

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