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:
Abnormality of hair texture (HP:0010719)

..Starting node
..Brittle hair (HP:0002299)

Term ID:

2299

Name:

Brittle hair

Synonym:

Brittle hair; Easily breakable hair; Fractured hair; Fragile hair; Reduced tensile strength of hair

Definition:

Fragile, easily breakable hair, i.e., with reduced tensile strength.

Comments:

Reference:

HP:0002299

Genes and Diseases:

Child Nodes:

........

Brittle scalp hair (HP:0004779)

Sister Nodes:

Coarse hair (HP:0002208)

Curly hair (HP:0002212)

Dry hair (HP:0011359)

Fine hair (HP:0002213)

Uncombable hair (HP:0030056)

Woolly hair (HP:0002224)

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:0002299	HP:0002299	Brittle hair	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.	81
HP:0002299	HP:0002299	Brittle hair	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL		5
HP:0002299	HP:0002299	Brittle hair	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0002299	HP:0002299	Brittle hair	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease		192
HP:0002299	HP:0002299	Brittle hair	0	BCS1L CL E G H	617	1020	ORPHA:123	Björnstad syndrome	HP:0040281 - Very frequent	72
HP:0002299	HP:0002299	Brittle hair	0	BCS1L CL E G H	617	1020	OMIM:262000	Bjornstad syndrome		72
HP:0002299	HP:0002299	Brittle hair	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0002299	HP:0002299	Brittle hair	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0002299	HP:0002299	Brittle hair	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002299	HP:0002299	Brittle hair	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002299	HP:0002299	Brittle hair	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.	242
HP:0002299	HP:0002299	Brittle hair	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040282 - Frequent	87
HP:0002299	HP:0002299	Brittle hair	0	CDSN CL E G H	1041	1802	OMIM:270300	Peeling skin syndrome 1	.	7
HP:0002299	HP:0002299	Brittle hair	0	DSG4 CL E G H	147409	21307	OMIM:607903	Hypotrichosis 6		63
HP:0002299	HP:0002299	Brittle hair	0	DSG4 CL E G H	147409	21307	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	63
HP:0002299	HP:0002299	Brittle hair	0	EDA CL E G H	1896	3157	OMIM:305100	Ectodermal dysplasia 1, hypohidrotic, X-linked	.	115
HP:0002299	HP:0002299	Brittle hair	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0002299	HP:0002299	Brittle hair	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.	106
HP:0002299	HP:0002299	Brittle hair	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0002299	HP:0002299	Brittle hair	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional	68
HP:0002299	HP:0002299	Brittle hair	0	GJA1 CL E G H	2697	4274	OMIM:104100	Palmoplantar keratoderma with congenital alopecia		68
HP:0002299	HP:0002299	Brittle hair	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.	56
HP:0002299	HP:0002299	Brittle hair	0	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0002299	HP:0002299	Brittle hair	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0002299	HP:0002299	Brittle hair	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0002299	HP:0002299	Brittle hair	0	GTF2E2 CL E G H	2961	4651	OMIM:616943	Trichothiodystrophy 6, nonphotosensitive		2
HP:0002299	HP:0002299	Brittle hair	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002299	HP:0002299	Brittle hair	0	GTF2H5 CL E G H	404672	21157	OMIM:616395	Trichothiodystrophy 3, photosensitive	.	3
HP:0002299	HP:0002299	Brittle hair	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002299	HP:0002299	Brittle hair	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0002299	HP:0002299	Brittle hair	0	KRT25 CL E G H	147183	30839	ORPHA:170	Woolly hair	HP:0040281 - Very frequent	2
HP:0002299	HP:0002299	Brittle hair	0	KRT71 CL E G H	112802	28927	ORPHA:170	Woolly hair	HP:0040281 - Very frequent	1
HP:0002299	HP:0002299	Brittle hair	0	KRT74 CL E G H	121391	28929	OMIM:614929	Ectodermal dysplasia 7, Hair/nail type	.	5
HP:0002299	HP:0002299	Brittle hair	0	KRT74 CL E G H	121391	28929	ORPHA:170	Woolly hair	HP:0040281 - Very frequent	5
HP:0002299	HP:0002299	Brittle hair	0	KRT81 CL E G H	3887	6458	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	3
HP:0002299	HP:0002299	Brittle hair	0	KRT81 CL E G H	3887	6458	OMIM:158000	MONILETHRIX	.	3
HP:0002299	HP:0002299	Brittle hair	0	KRT83 CL E G H	3889	6460	OMIM:158000	MONILETHRIX	.	65
HP:0002299	HP:0002299	Brittle hair	0	KRT83 CL E G H	3889	6460	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	65
HP:0002299	HP:0002299	Brittle hair	0	KRT85 CL E G H	3891	6462	OMIM:602032	Ectodermal dysplasia 4, Hair/nail type	.	2
HP:0002299	HP:0002299	Brittle hair	0	KRT86 CL E G H	3892	6463	OMIM:158000	MONILETHRIX	.	10
HP:0002299	HP:0002299	Brittle hair	0	KRT86 CL E G H	3892	6463	ORPHA:573	Monilethrix	HP:0040281 - Very frequent	10
HP:0002299	HP:0002299	Brittle hair	0	LIPH CL E G H	200879	18483	OMIM:604379	Hypotrichosis 7		12
HP:0002299	HP:0002299	Brittle hair	0	LIPH CL E G H	200879	18483	ORPHA:170	Woolly hair	HP:0040281 - Very frequent	12
HP:0002299	HP:0002299	Brittle hair	0	LPAR6 CL E G H	10161	15520	ORPHA:170	Woolly hair	HP:0040281 - Very frequent	8
HP:0002299	HP:0002299	Brittle hair	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0002299	HP:0002299	Brittle hair	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0002299	HP:0002299	Brittle hair	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0002299	HP:0002299	Brittle hair	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	.	9
HP:0002299	HP:0002299	Brittle hair	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.	4
HP:0002299	HP:0002299	Brittle hair	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002299	HP:0002299	Brittle hair	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0002299	HP:0002299	Brittle hair	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0002299	HP:0002299	Brittle hair	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0002299	HP:0002299	Brittle hair	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040282 - Frequent	28
HP:0002299	HP:0002299	Brittle hair	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0002299	HP:0002299	Brittle hair	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002299	HP:0002299	Brittle hair	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0002299	HP:0002299	Brittle hair	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0002299	HP:0002299	Brittle hair	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0002299	HP:0002299	Brittle hair	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent	2
HP:0002299	HP:0002299	Brittle hair	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0002299	HP:0002299	Brittle hair	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0002299	HP:0002299	Brittle hair	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0002299	HP:0002299	Brittle hair	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0002299	HP:0002299	Brittle hair	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0002299	HP:0002299	Brittle hair	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0002299	HP:0002299	Brittle hair	0	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100
HP:0002299	HP:0002299	Brittle hair	0	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11		4
HP:0002299	HP:0002299	Brittle hair	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002299	HP:0002299	Brittle hair	0	TARS1 CL E G H	6897	11572	OMIM:618546	Trichothiodystrophy 7, nonphotosensitive
HP:0002299	HP:0002299	Brittle hair	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0002299	HP:0002299	Brittle hair	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0002299	HP:0004779	Brittle scalp hair	1	GJB6 CL E G H	10804	4288	ORPHA:189	Hidrotic ectodermal dysplasia		56
HP:0002299	HP:0004779	Brittle scalp hair	1	SPINK5 CL E G H	11005	15464	OMIM:256500	Netherton syndrome	.	100

Genes (51) :ASL ATAD3A ATP6V0A2 ATP7A BCS1L BRAF CARS1 CBS CDH3 CDSN DSG4 EDA ERCC2 ERCC3 GJA1 GJB6 GNPTAB GTF2E2 GTF2H5 GTPBP2 KRAS KRT25 KRT71 KRT74 KRT81 KRT83 KRT85 KRT86 LIPH LPAR6 MAP2K1 MAP2K2 MPLKIP NECTIN1 NFIX OFD1 PORCN PQBP1 PRR12 RNF113A RPS23 SCUBE3 SEC23A SKIC2 SKIC3 SLC25A24 SPINK5 ST14 TARS1 TRNT1 ZMPSTE24

Diseases (52) :OMIM:207900 OMIM:618810 OMIM:219200 OMIM:309400 ORPHA:123 OMIM:262000 OMIM:124000 ORPHA:1340 OMIM:618891 ORPHA:33364 OMIM:236200 ORPHA:1573 OMIM:270300 OMIM:607903 ORPHA:573 OMIM:305100 OMIM:601675 ORPHA:2710 OMIM:104100 OMIM:129500 ORPHA:189 OMIM:252500 OMIM:616943 OMIM:616395 OMIM:617988 ORPHA:170 OMIM:614929 OMIM:158000 OMIM:602032 OMIM:604379 OMIM:234050 OMIM:225060 OMIM:602535 ORPHA:2750 OMIM:305600 OMIM:309500 ORPHA:93947 OMIM:619539 OMIM:300953 OMIM:617412 OMIM:619184 ORPHA:50814 OMIM:607812 ORPHA:84064 OMIM:614602 OMIM:222470 ORPHA:2963 OMIM:256500 OMIM:602400 OMIM:618546 OMIM:616084 OMIM:608612

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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