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 quantity (HP:0011362)

Parent Node:
Abnormality of the scalp hair (HP:0100037)

Parent Node:
Alopecia (HP:0001596)

..Starting node
..Alopecia of scalp (HP:0002293)

Term ID:

2293

Name:

Alopecia of scalp

Synonym:

Absence of scalp hair; Baldness; Missing scalp hair; Pathologic hair loss from scalp; Scalp hair loss

Definition:

Comments:

Reference:

HP:0002293

Genes and Diseases:

Child Nodes:

........

Scarring alopecia of scalp (HP:0004552)

Sister Nodes:

Alopecia totalis (HP:0007418)

Alopecia universalis (HP:0002289)

obsolete Alopecia areata (HP:0002229)

Patchy alopecia (HP:0002232)

Progressive alopecia (HP:0002287)

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:0002293	HP:0002293	Alopecia of scalp	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002293	HP:0002293	Alopecia of scalp	0	CDSN CL E G H	1041	1802	ORPHA:90368	Hypotrichosis simplex of the scalp		7
HP:0002293	HP:0002293	Alopecia of scalp	0	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome		11
HP:0002293	HP:0002293	Alopecia of scalp	0	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:0002293	HP:0002293	Alopecia of scalp	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		129
HP:0002293	HP:0002293	Alopecia of scalp	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa		129
HP:0002293	HP:0002293	Alopecia of scalp	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0002293	HP:0002293	Alopecia of scalp	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0002293	HP:0002293	Alopecia of scalp	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0002293	HP:0002293	Alopecia of scalp	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0002293	HP:0002293	Alopecia of scalp	0	ECM1 CL E G H	1893	3153	ORPHA:530	Lipoid proteinosis	HP:0040282 - Frequent	14
HP:0002293	HP:0002293	Alopecia of scalp	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0002293	HP:0002293	Alopecia of scalp	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0002293	HP:0002293	Alopecia of scalp	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria		29
HP:0002293	HP:0002293	Alopecia of scalp	0	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness		199
HP:0002293	HP:0002293	Alopecia of scalp	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002293	HP:0002293	Alopecia of scalp	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002293	HP:0002293	Alopecia of scalp	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0002293	HP:0002293	Alopecia of scalp	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002293	HP:0002293	Alopecia of scalp	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0002293	HP:0002293	Alopecia of scalp	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0002293	HP:0002293	Alopecia of scalp	0	ITGB4 CL E G H	3691	6158	OMIM:619816	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A		124
HP:0002293	HP:0002293	Alopecia of scalp	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		124
HP:0002293	HP:0002293	Alopecia of scalp	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa		124
HP:0002293	HP:0002293	Alopecia of scalp	0	KLHL24 CL E G H	54800	25947	OMIM:617294	Epidermolysis bullosa simplex, generalized, with scarring and hair loss		5
HP:0002293	HP:0002293	Alopecia of scalp	0	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis	.	110
HP:0002293	HP:0002293	Alopecia of scalp	0	KRT74 CL E G H	121391	28929	ORPHA:90368	Hypotrichosis simplex of the scalp		5
HP:0002293	HP:0002293	Alopecia of scalp	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		116
HP:0002293	HP:0002293	Alopecia of scalp	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		167
HP:0002293	HP:0002293	Alopecia of scalp	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa		135
HP:0002293	HP:0002293	Alopecia of scalp	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4		178
HP:0002293	HP:0002293	Alopecia of scalp	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked		22
HP:0002293	HP:0002293	Alopecia of scalp	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0002293	HP:0002293	Alopecia of scalp	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional	11
HP:0002293	HP:0002293	Alopecia of scalp	0	PKP1 CL E G H	5317	9023	OMIM:604536	ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME		107
HP:0002293	HP:0002293	Alopecia of scalp	0	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy		759
HP:0002293	HP:0002293	Alopecia of scalp	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0002293	HP:0002293	Alopecia of scalp	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002293	HP:0002293	Alopecia of scalp	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0002293	HP:0002293	Alopecia of scalp	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002293	HP:0002293	Alopecia of scalp	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS		26
HP:0002293	HP:0002293	Alopecia of scalp	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0002293	HP:0002293	Alopecia of scalp	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0002293	HP:0002293	Alopecia of scalp	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002293	HP:0002293	Alopecia of scalp	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.	140
HP:0002293	HP:0002293	Alopecia of scalp	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional	26
HP:0002293	HP:0002293	Alopecia of scalp	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria		31
HP:0002293	HP:0002293	Alopecia of scalp	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria		41
HP:0002293	HP:0002293	Alopecia of scalp	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent	11
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	COL17A1 CL E G H	1308	2194	OMIM:619787	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4		129
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	129
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional	129
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata	HP:0040281 - Very frequent	51
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	29
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	GJB2 CL E G H	2706	4284	OMIM:602540	Ichthyosis, hystrix-like, with deafness	.	199
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	124
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	124
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional	124
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	116
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	167
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	135
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.	22
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	PLEC CL E G H	5339	9069	OMIM:226670	Epidermolysis bullosa simplex with muscular dystrophy	.	759
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	759
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional	31
HP:0002293	HP:0004552	Scarring alopecia of scalp	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional	41

Genes (42) :CARS1 CDSN CLDN1 COL17A1 COL18A1 COL3A1 DCLRE1C EBP ECM1 ERCC2 ERCC3 GATA1 GJB2 GJB6 GTF2E2 GTF2H5 HTRA1 ITGB4 KLHL24 KRT14 KRT74 LAMA3 LAMB3 LAMC2 MAP2K2 MBTPS2 MPLKIP PI4KA PKP1 PLEC POLR3A RHOA RNF113A SLC27A4 SLC29A3 SLC39A4 TARS1 TP63 TTC7A UROD UROS WRN

Diseases (32) :ORPHA:33364 ORPHA:90368 ORPHA:59303 OMIM:619787 ORPHA:79402 ORPHA:251393 OMIM:267750 OMIM:130050 OMIM:602450 ORPHA:35173 ORPHA:530 ORPHA:79277 OMIM:602540 ORPHA:477 ORPHA:199354 ORPHA:158684 OMIM:619816 OMIM:617294 OMIM:125595 OMIM:615280 OMIM:308800 ORPHA:436252 OMIM:604536 OMIM:226670 OMIM:264090 OMIM:618727 OMIM:608649 OMIM:602782 OMIM:201100 OMIM:103285 ORPHA:95159 OMIM:277700

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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