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:
Early onset of sexual maturation (HP:0100000)

Parent Node:
Precocious puberty (HP:0000826)

..Starting node
..Premature thelarche (HP:0010314)

Term ID:

10314

Name:

Premature thelarche

Synonym:

Premature breast development

Definition:

Premature development of the breasts.

Comments:

Reference:

HP:0010314

Genes and Diseases:

Child Nodes:

Sister Nodes:

Isosexual precocious puberty (HP:0008236)

Precocious puberty in females (HP:0010465)

Precocious puberty in males (HP:0008185)

Precocious puberty with Sertoli cell tumor (HP:0008204)

Premature pubarche (HP:0012411)

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:0010314	HP:0010314	Premature thelarche	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0010314	HP:0010314	Premature thelarche	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040284 - Very rare	112
HP:0010314	HP:0010314	Premature thelarche	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0010314	HP:0010314	Premature thelarche	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0010314	HP:0010314	Premature thelarche	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0010314	HP:0010314	Premature thelarche	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.	53
HP:0010314	HP:0010314	Premature thelarche	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.	660
HP:0010314	HP:0010314	Premature thelarche	0	MKRN3 CL E G H	7681	7114	OMIM:615346	PRECOCIOUS PUBERTY, CENTRAL, 2; CPPB2		5
HP:0010314	HP:0010314	Premature thelarche	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0010314	HP:0010314	Premature thelarche	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0010314	HP:0010314	Premature thelarche	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	HP:0040283 - Occasional	12

Genes (11) :CREBBP CYP11B1 DYRK1A EIF5A EP300 KDM6A KMT2D MKRN3 MMP14 MMP2 TANGO2

Diseases (8) :OMIM:180849 ORPHA:90795 ORPHA:268261 OMIM:619376 OMIM:147920 OMIM:615346 ORPHA:371428 OMIM:616878

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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