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 brain morphology (HP:0012443)

Grandparent Node:
Abnormality of the hypothalamus-pituitary axis (HP:0000864)

Parent Node:
Abnormality of the pituitary gland (HP:0012503)

..Starting node
..Abnormal size of pituitary gland (HP:0012504)

Term ID:

12504

Name:

Abnormal size of pituitary gland

Synonym:

Definition:

A deviation from the normal size of the pituitary gland.

Comments:

Reference:

HP:0012504

Genes and Diseases:

Child Nodes:

........

Enlarged pituitary gland (HP:0012505)

........

Small pituitary gland (HP:0012506)

Sister Nodes:

Abnormal thyroid-stimulating hormone level (HP:0031097)

Abnormality of the anterior pituitary (HP:0011747)

Abnormality of the posterior pituitary (HP:0011751)

Prolactinoma (HP:0040278)

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:0012504	HP:0012504	Abnormal size of pituitary gland	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma		276
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma		636
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG		2
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq		2
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma		88
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia		17
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	GHSR CL E G H	2693	4267	OMIM:615925	Growth hormone deficiency, isolated partial		37
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia		8
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly		96
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040282 - Frequent	11
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome		1
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0012504	HP:0012504	Abnormal size of pituitary gland	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0012504	HP:0012505	Enlarged pituitary gland	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0012504	HP:0012505	Enlarged pituitary gland	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0012504	HP:0012505	Enlarged pituitary gland	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040281 - Very frequent	276
HP:0012504	HP:0012505	Enlarged pituitary gland	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040281 - Very frequent	636
HP:0012504	HP:0012506	Small pituitary gland	1	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG	HP:0040281 - Very frequent	2
HP:0012504	HP:0012506	Small pituitary gland	1	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq	.	2
HP:0012504	HP:0012505	Enlarged pituitary gland	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040281 - Very frequent	88
HP:0012504	HP:0012506	Small pituitary gland	1	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia	.	17
HP:0012504	HP:0012506	Small pituitary gland	1	GHSR CL E G H	2693	4267	OMIM:615925	Growth hormone deficiency, isolated partial	HP:0040283 - Occasional	37
HP:0012504	HP:0012506	Small pituitary gland	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012504	HP:0012506	Small pituitary gland	1	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia	HP:0040283 - Occasional	8
HP:0012504	HP:0012506	Small pituitary gland	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0012504	HP:0012506	Small pituitary gland	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0012504	HP:0012506	Small pituitary gland	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0012504	HP:0012506	Small pituitary gland	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0012504	HP:0012506	Small pituitary gland	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly		96
HP:0012504	HP:0012505	Enlarged pituitary gland	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0012504	HP:0012505	Enlarged pituitary gland	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0012504	HP:0012505	Enlarged pituitary gland	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0012504	HP:0012506	Small pituitary gland	1	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome		1
HP:0012504	HP:0012506	Small pituitary gland	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0012504	HP:0012505	Enlarged pituitary gland	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0012504	HP:0012505	Enlarged pituitary gland	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0012504	HP:0012505	Enlarged pituitary gland	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0012504	HP:0012505	Enlarged pituitary gland	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0012504	HP:0012505	Enlarged pituitary gland	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0012504	HP:0012505	Enlarged pituitary gland	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0012504	HP:0012506	Small pituitary gland	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0012504	HP:0410279	Atrophic pituitary gland	2	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96

Genes (27) :AKT1 BAP1 BRAF CDH23 COG2 CTNNB1 FGF8 GHSR GNB2 HS6ST1 KIAA0753 MAGEL2 MED12 NDE1 NF2 NFKB2 PDGFB PIK3CA RBM28 SIM1 SMARCB1 SMARCE1 SMO SUFU TERT TRAF7 VSX1

Diseases (18) :ORPHA:2495 ORPHA:54595 ORPHA:91347 ORPHA:435934 OMIM:617395 OMIM:612702 OMIM:615925 OMIM:619503 OMIM:614880 OMIM:619476 OMIM:619479 ORPHA:398069 ORPHA:93932 ORPHA:2177 ORPHA:293978 OMIM:612079 ORPHA:398079 OMIM:614195

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