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:
Abnormal hair morphology (HP:0001595)

Parent Node:
Abnormal hair pattern (HP:0010720)

..Starting node
..Acquired abnormal hair pattern (HP:0011360)

Term ID:

11360

Name:

Acquired abnormal hair pattern

Synonym:

Acquired abnormal hair pattern

Definition:

An abnormality of the distribution of hair growth that is acquired during the course of life.

Comments:

Reference:

HP:0011360

Genes and Diseases:

Child Nodes:

........

Alopecia areata (HP:0002229)

........

Early balding (HP:0002234)

........

Frontal balding (HP:0002292)

........

Tufted hairs (HP:0031283)

Sister Nodes:

Congenital abnormal hair pattern (HP:0011361)

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:0011360	HP:0011360	Acquired abnormal hair pattern	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion		3179
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy		227
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa		129
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1		152
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix		63
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease		14
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis		106
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa		124
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation		81
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix		3
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix		65
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix		10
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1		7
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy		52
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome		79
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome		3
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type		28
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy		1053
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy		255
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy		29
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy		108
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome		1
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism		4
HP:0011360	HP:0011360	Acquired abnormal hair pattern	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0011360	HP:0031283	Tufted hairs	1	CL E G H
HP:0011360	HP:0002292	Frontal balding	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional	135
HP:0011360	HP:0002292	Frontal balding	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0011360	HP:0002234	Early balding	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040281 - Very frequent	8
HP:0011360	HP:0002292	Frontal balding	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0011360	HP:0002234	Early balding	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0011360	HP:0002232	Patchy alopecia	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0011360	HP:0002292	Frontal balding	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	227
HP:0011360	HP:0002292	Frontal balding	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0011360	HP:0002232	Patchy alopecia	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa		129
HP:0011360	HP:0002292	Frontal balding	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.	152
HP:0011360	HP:0002232	Patchy alopecia	1	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	63
HP:0011360	HP:0002232	Patchy alopecia	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0011360	HP:0002232	Patchy alopecia	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0011360	HP:0002232	Patchy alopecia	1	ECM1 CL E G H	1893	3153	OMIM:247100	Urbach-Wiethe disease	.	14
HP:0011360	HP:0002292	Frontal balding	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0011360	HP:0002292	Frontal balding	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0011360	HP:0002232	Patchy alopecia	1	HR CL E G H	55806	5172	ORPHA:701	Alopecia universalis	HP:0040281 - Very frequent	106
HP:0011360	HP:0002232	Patchy alopecia	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0011360	HP:0002232	Patchy alopecia	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0011360	HP:0002232	Patchy alopecia	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0011360	HP:0002232	Patchy alopecia	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa		124
HP:0011360	HP:0002232	Patchy alopecia	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0011360	HP:0002232	Patchy alopecia	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040281 - Very frequent	81
HP:0011360	HP:0002232	Patchy alopecia	1	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	3
HP:0011360	HP:0002232	Patchy alopecia	1	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	65
HP:0011360	HP:0002232	Patchy alopecia	1	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	10
HP:0011360	HP:0002232	Patchy alopecia	1	LAMB3 CL E G H	3914	6490	OMIM:226650	Epidermolysis bullosa, junctional, Non-Herlitz type		167
HP:0011360	HP:0002232	Patchy alopecia	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0011360	HP:0002232	Patchy alopecia	1	NECTIN4 CL E G H	81607	19688	OMIM:613573	Ectodermal dysplasia-syndactyly syndrome 1	.	7
HP:0011360	HP:0002292	Frontal balding	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	52
HP:0011360	HP:0002292	Frontal balding	1	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040283 - Occasional	79
HP:0011360	HP:0002232	Patchy alopecia	1	PADI3 CL E G H	51702	18337	ORPHA:1410	Uncombable hair syndrome	HP:0040283 - Occasional	3
HP:0011360	HP:0002232	Patchy alopecia	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0011360	HP:0002292	Frontal balding	1	PQBP1 CL E G H	10084	9330	ORPHA:93945	X-linked intellectual disability, Porteous type	HP:0040282 - Frequent	28
HP:0011360	HP:0002292	Frontal balding	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	1053
HP:0011360	HP:0002292	Frontal balding	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	255
HP:0011360	HP:0002292	Frontal balding	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	29
HP:0011360	HP:0002292	Frontal balding	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	108
HP:0011360	HP:0002232	Patchy alopecia	1	TGM3 CL E G H	7053	11779	ORPHA:1410	Uncombable hair syndrome	HP:0040283 - Occasional	1
HP:0011360	HP:0002232	Patchy alopecia	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0011360	HP:0002292	Frontal balding	1	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4
HP:0011360	HP:0002232	Patchy alopecia	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83
HP:0011360	HP:0004529	Atrophic, patchy alopecia	2	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	129
HP:0011360	HP:0004529	Atrophic, patchy alopecia	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0011360	HP:0004529	Atrophic, patchy alopecia	2	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040282 - Frequent	124

Genes (40) :ABCD1 ALMS1 ANTXR1 AP2M1 APC BLM CHD2 CNBP COL17A1 DMPK DSG4 EBP ECM1 GJA5 GJA8 HR HRAS IKBKG IL2RA ITGB4 KDM5C KRT81 KRT83 KRT86 LAMB3 LMNA NECTIN4 NEXMIF NR3C1 PADI3 PORCN PQBP1 SCN1A SLC2A1 SLC6A1 SYNGAP1 TGM3 TP63 WNT4 ZMPSTE24

Diseases (29) :ORPHA:139399 ORPHA:64 ORPHA:2067 ORPHA:1942 ORPHA:261584 ORPHA:125 OMIM:602668 ORPHA:251393 OMIM:160900 ORPHA:573 OMIM:302960 ORPHA:35173 OMIM:247100 OMIM:612474 ORPHA:701 ORPHA:2874 OMIM:308300 OMIM:606367 OMIM:300534 ORPHA:85279 OMIM:226650 ORPHA:740 OMIM:613573 ORPHA:786 ORPHA:1410 OMIM:305600 ORPHA:93945 OMIM:106260 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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