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:
Abnormal hair pattern (HP:0010720)

Parent Node:
Acquired abnormal hair pattern (HP:0011360)

..Starting node
..Frontal balding (HP:0002292)

Term ID:

2292

Name:

Frontal balding

Synonym:

Frontal balding; Male pattern baldness

Definition:

Absence of hair in the anterior midline and/or parietal areas.

Comments:

Reference:

HP:0002292

Genes and Diseases:

Child Nodes:

Sister Nodes:

Early balding (HP:0002234)

obsolete Alopecia areata (HP:0002229)

Tufted hairs (HP:0031283)

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:0002292	HP:0002292	Frontal balding	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional	135
HP:0002292	HP:0002292	Frontal balding	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0002292	HP:0002292	Frontal balding	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0002292	HP:0002292	Frontal balding	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	227
HP:0002292	HP:0002292	Frontal balding	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0002292	HP:0002292	Frontal balding	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.	152
HP:0002292	HP:0002292	Frontal balding	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0002292	HP:0002292	Frontal balding	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0002292	HP:0002292	Frontal balding	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	52
HP:0002292	HP:0002292	Frontal balding	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040283 - Occasional	79
HP:0002292	HP:0002292	Frontal balding	0	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040282 - Frequent	28
HP:0002292	HP:0002292	Frontal balding	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	1053
HP:0002292	HP:0002292	Frontal balding	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	255
HP:0002292	HP:0002292	Frontal balding	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	29
HP:0002292	HP:0002292	Frontal balding	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	108
HP:0002292	HP:0002292	Frontal balding	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4

Genes (16) :ABCD1 ALMS1 AP2M1 CHD2 CNBP DMPK GJA5 GJA8 NEXMIF NR3C1 PQBP1 SCN1A SLC2A1 SLC6A1 SYNGAP1 WNT4

Diseases (9) :ORPHA:139399 ORPHA:64 ORPHA:1942 OMIM:602668 OMIM:160900 OMIM:612474 ORPHA:786 ORPHA:93945 ORPHA:247768

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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