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:
Growth delay (HP:0001510)

Grandparent Node:
Puberty and gonadal disorders (HP:0008373)

Parent Node:
Abnormality of the menstrual cycle (HP:0000140)

Parent Node:
Delayed puberty (HP:0000823)

..Starting node
..Delayed menarche (HP:0012569)

Term ID:

12569

Name:

Delayed menarche

Synonym:

Delayed start of first period

Definition:

First period after the age of 15 years.

Comments:

Reference:

HP:0012569

Genes and Diseases:

Child Nodes:

Sister Nodes:

Delayed adrenarche (HP:0025453)

Delayed thelarche (HP:0025515)

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:0012569	HP:0012569	Delayed menarche	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040284 - Very rare	404
HP:0012569	HP:0012569	Delayed menarche	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040283 - Occasional	94
HP:0012569	HP:0012569	Delayed menarche	0	FSHB CL E G H	2488	3964	ORPHA:52901	Isolated follicle stimulating hormone deficiency	HP:0040281 - Very frequent	23
HP:0012569	HP:0012569	Delayed menarche	0	GHR CL E G H	2690	4263	OMIM:262500	Laron syndrome	.	98
HP:0012569	HP:0012569	Delayed menarche	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0012569	HP:0012569	Delayed menarche	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0012569	HP:0012569	Delayed menarche	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.	291
HP:0012569	HP:0012569	Delayed menarche	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional	82
HP:0012569	HP:0012569	Delayed menarche	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare	14
HP:0012569	HP:0012569	Delayed menarche	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83

Genes (10) :ALMS1 DNM1L FSHB GHR LMNA PEX10 PTPN11 SLC25A13 STUB1 ZMPSTE24

Diseases (9) :ORPHA:64 ORPHA:330050 ORPHA:52901 OMIM:262500 ORPHA:740 OMIM:614871 OMIM:151100 ORPHA:247585 ORPHA:412057

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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