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:
Abnormality of the pituitary gland (HP:0012503)

Parent Node:
Abnormal size of pituitary gland (HP:0012504)

..Starting node
..Small pituitary gland (HP:0012506)

Term ID:

12506

Name:

Small pituitary gland

Synonym:

Definition:

An abnormally decreased size of the pituitary gland.

Comments:

Reference:

HP:0012506

Genes and Diseases:

Child Nodes:

Sister Nodes:

Enlarged pituitary gland (HP:0012505)

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:0012506	HP:0012506	Small pituitary gland	0	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG	HP:0040281 - Very frequent	2
HP:0012506	HP:0012506	Small pituitary gland	0	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq	.	2
HP:0012506	HP:0012506	Small pituitary gland	0	FGF8 CL E G H	2253	3686	OMIM:612702	Hypogonadotropic hypogonadism 6 with or without anosmia	.	17
HP:0012506	HP:0012506	Small pituitary gland	0	GHSR CL E G H	2693	4267	OMIM:615925	Growth hormone deficiency, isolated partial	HP:0040283 - Occasional	37
HP:0012506	HP:0012506	Small pituitary gland	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0012506	HP:0012506	Small pituitary gland	0	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia	HP:0040283 - Occasional	8
HP:0012506	HP:0012506	Small pituitary gland	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0012506	HP:0012506	Small pituitary gland	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0012506	HP:0012506	Small pituitary gland	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0012506	HP:0012506	Small pituitary gland	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0012506	HP:0012506	Small pituitary gland	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly		96
HP:0012506	HP:0012506	Small pituitary gland	0	RBM28 CL E G H	55131	21863	OMIM:612079	Alopecia, neurologic defects, and endocrinopathy syndrome		1
HP:0012506	HP:0012506	Small pituitary gland	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0012506	HP:0012506	Small pituitary gland	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0012506	HP:0410279	Atrophic pituitary gland	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96

Genes (12) :COG2 FGF8 GHSR GNB2 HS6ST1 KIAA0753 MAGEL2 MED12 NDE1 RBM28 SIM1 VSX1

Diseases (14) :ORPHA:435934 OMIM:617395 OMIM:612702 OMIM:615925 OMIM:619503 OMIM:614880 OMIM:619476 OMIM:619479 ORPHA:398069 ORPHA:93932 ORPHA:2177 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.

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