Human Phenotype Ontology

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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 body height (HP:0000002)

Grandparent Node:
Growth delay (HP:0001510)

Parent Node:
Decreased response to growth hormone stimulation test (HP:0000824)

Parent Node:
Short stature (HP:0004322)

..Starting node
..Pituitary dwarfism (HP:0000839)

Term ID:

839

Name:

Pituitary dwarfism

Synonym:

Definition:

A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.

Comments:

Reference:

HP:0000839

Genes and Diseases:

Child Nodes:

Sister Nodes:

Asymmetric short stature (HP:0008929)

Birth length less than 3rd percentile (HP:0003561)

Disproportionate short stature (HP:0003498)

Proportionate short stature (HP:0003508)

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:0000839	HP:0000839	Pituitary dwarfism	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional
HP:0000839	HP:0000839	Pituitary dwarfism	0	GH1 CL E G H	2688	4261	OMIM:173100	Isolated growth hormone deficiency, type II	.	50
HP:0000839	HP:0000839	Pituitary dwarfism	0	GH1 CL E G H	2688	4261	OMIM:262650	Pituitary dwarfism IV	.	50
HP:0000839	HP:0000839	Pituitary dwarfism	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional	173
HP:0000839	HP:0000839	Pituitary dwarfism	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional	21
HP:0000839	HP:0000839	Pituitary dwarfism	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	21
HP:0000839	HP:0000839	Pituitary dwarfism	0	LHX3 CL E G H	8022	6595	OMIM:221750	Deafness, sensorineural, with pituitary dwarfism	.	51
HP:0000839	HP:0000839	Pituitary dwarfism	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	51
HP:0000839	HP:0000839	Pituitary dwarfism	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional	43
HP:0000839	HP:0000839	Pituitary dwarfism	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	43
HP:0000839	HP:0000839	Pituitary dwarfism	0	LHX4 CL E G H	89884	21734	OMIM:262700	Pituitary hormone deficiency, combined, 4	.	43
HP:0000839	HP:0000839	Pituitary dwarfism	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional	41
HP:0000839	HP:0000839	Pituitary dwarfism	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional	36
HP:0000839	HP:0000839	Pituitary dwarfism	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	36
HP:0000839	HP:0000839	Pituitary dwarfism	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional	54
HP:0000839	HP:0000839	Pituitary dwarfism	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	54
HP:0000839	HP:0000839	Pituitary dwarfism	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040283 - Occasional	54
HP:0000839	HP:0000839	Pituitary dwarfism	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040283 - Occasional	24
HP:0000839	HP:0000839	Pituitary dwarfism	0	SOX3 CL E G H	6658	11199	OMIM:312000	Panhypopituitarism, X-linked	.	24

Genes (10) :FOXA2 GH1 GLI2 HESX1 LHX3 LHX4 OTX2 POU1F1 PROP1 SOX3

Diseases (8) :ORPHA:95494 OMIM:173100 OMIM:262650 ORPHA:226307 OMIM:221750 OMIM:262700 ORPHA:90695 OMIM:312000

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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