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:
Abnormality of the forehead (HP:0000290)

Grandparent Node:
Abnormality of the hairline (HP:0009553)

Parent Node:
Abnormality of the frontal hairline (HP:0000599)

..Starting node
..High anterior hairline (HP:0009890)

Term ID:

9890

Name:

High anterior hairline

Synonym:

High frontal hairline

Definition:

Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.

Comments:

Reference:

HP:0009890

Genes and Diseases:

Child Nodes:

........

Widow's peak (HP:0000349)

Sister Nodes:

Extension of hair growth on temples to lateral eyebrow (HP:0005325)

Low anterior hairline (HP:0000294)

obsolete Pointed frontal hairline (HP:0004544)

Sparse anterior scalp hair (HP:0004768)

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:0009890	HP:0009890	High anterior hairline	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0009890	HP:0009890	High anterior hairline	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0009890	HP:0009890	High anterior hairline	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0009890	HP:0009890	High anterior hairline	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0009890	HP:0009890	High anterior hairline	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0009890	HP:0009890	High anterior hairline	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny		9
HP:0009890	HP:0009890	High anterior hairline	0	ANKRD17 CL E G H	26057	23575	OMIM:619504	CHOPRA-AMIEL-GORDON SYNDROME; CAGS		2
HP:0009890	HP:0009890	High anterior hairline	0	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2		5
HP:0009890	HP:0009890	High anterior hairline	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0009890	HP:0009890	High anterior hairline	0	CCNK CL E G H	8812	1596	OMIM:618147	Intellectual developmental disorder with hypertelorism and distinctive facies	.	3
HP:0009890	HP:0009890	High anterior hairline	0	CDH1 CL E G H	999	1748	OMIM:119580	Blepharocheilodontic syndrome 1	HP:0040284 - Very rare	1003
HP:0009890	HP:0009890	High anterior hairline	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0009890	HP:0009890	High anterior hairline	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	1
HP:0009890	HP:0009890	High anterior hairline	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0009890	HP:0009890	High anterior hairline	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0009890	HP:0009890	High anterior hairline	0	DLX4 CL E G H	1748	2917	OMIM:616788	Orofacial cleft 15	.	1
HP:0009890	HP:0009890	High anterior hairline	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0009890	HP:0009890	High anterior hairline	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia		27
HP:0009890	HP:0009890	High anterior hairline	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0009890	HP:0009890	High anterior hairline	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0009890	HP:0009890	High anterior hairline	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040282 - Frequent	62
HP:0009890	HP:0009890	High anterior hairline	0	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0009890	HP:0009890	High anterior hairline	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0009890	HP:0009890	High anterior hairline	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0009890	HP:0009890	High anterior hairline	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0009890	HP:0009890	High anterior hairline	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0009890	HP:0009890	High anterior hairline	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0009890	HP:0009890	High anterior hairline	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0009890	HP:0009890	High anterior hairline	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0009890	HP:0009890	High anterior hairline	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.	28
HP:0009890	HP:0009890	High anterior hairline	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0009890	HP:0009890	High anterior hairline	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0009890	HP:0009890	High anterior hairline	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	2
HP:0009890	HP:0009890	High anterior hairline	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0009890	HP:0009890	High anterior hairline	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome		289
HP:0009890	HP:0009890	High anterior hairline	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0009890	HP:0009890	High anterior hairline	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.	7
HP:0009890	HP:0009890	High anterior hairline	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0009890	HP:0009890	High anterior hairline	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0009890	HP:0009890	High anterior hairline	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0009890	HP:0009890	High anterior hairline	0	NEPRO CL E G H	25871	24496	OMIM:618853	ANAUXETIC DYSPLASIA 3; ANXD3
HP:0009890	HP:0009890	High anterior hairline	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0009890	HP:0009890	High anterior hairline	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0009890	HP:0009890	High anterior hairline	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	118
HP:0009890	HP:0009890	High anterior hairline	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional	169
HP:0009890	HP:0009890	High anterior hairline	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional	98
HP:0009890	HP:0009890	High anterior hairline	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent	7
HP:0009890	HP:0009890	High anterior hairline	0	PIGK CL E G H	10026	8965	OMIM:618879	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0009890	HP:0009890	High anterior hairline	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0009890	HP:0009890	High anterior hairline	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT		1
HP:0009890	HP:0009890	High anterior hairline	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0009890	HP:0009890	High anterior hairline	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0009890	HP:0009890	High anterior hairline	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0009890	HP:0009890	High anterior hairline	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040282 - Frequent	9
HP:0009890	HP:0009890	High anterior hairline	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0009890	HP:0009890	High anterior hairline	0	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0009890	HP:0009890	High anterior hairline	0	SLC9A7 CL E G H	84679	17123	OMIM:301024	Intellectual developmental disorder, X-linked 108	.
HP:0009890	HP:0009890	High anterior hairline	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0009890	HP:0009890	High anterior hairline	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4	.	315
HP:0009890	HP:0009890	High anterior hairline	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0009890	HP:0009890	High anterior hairline	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome		6
HP:0009890	HP:0009890	High anterior hairline	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0009890	HP:0009890	High anterior hairline	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0009890	HP:0009890	High anterior hairline	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21
HP:0009890	HP:0009890	High anterior hairline	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome		1
HP:0009890	HP:0009890	High anterior hairline	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0009890	HP:0009890	High anterior hairline	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional	22
HP:0009890	HP:0009890	High anterior hairline	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.	1
HP:0009890	HP:0009890	High anterior hairline	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0009890	HP:0009890	High anterior hairline	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0009890	HP:0009890	High anterior hairline	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0009890	HP:0009890	High anterior hairline	0	WNT4 CL E G H	54361	12783	ORPHA:247768	Müllerian aplasia and hyperandrogenism	HP:0040281 - Very frequent	4
HP:0009890	HP:0009890	High anterior hairline	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.	19
HP:0009890	HP:0000349	Widow's peak	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0009890	HP:0000349	Widow's peak	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0009890	HP:0000349	Widow's peak	1	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0009890	HP:0000349	Widow's peak	1	ATP6V1B2 CL E G H	526	854	OMIM:616455	Zimmermann-Laband syndrome 2	HP:0040283 - Occasional	5
HP:0009890	HP:0000349	Widow's peak	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent	27
HP:0009890	HP:0000349	Widow's peak	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0009890	HP:0000349	Widow's peak	1	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62
HP:0009890	HP:0000349	Widow's peak	1	GDF11 CL E G H	10220	4216	OMIM:619122	VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0009890	HP:0000349	Widow's peak	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0009890	HP:0000349	Widow's peak	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040281 - Very frequent	289
HP:0009890	HP:0000349	Widow's peak	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent	57
HP:0009890	HP:0000349	Widow's peak	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.	57
HP:0009890	HP:0000349	Widow's peak	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0009890	HP:0000349	Widow's peak	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0009890	HP:0000349	Widow's peak	1	SLC35C1 CL E G H	55343	20197	OMIM:266265	Congenital disorder of glycosylation, type IIc		71
HP:0009890	HP:0000349	Widow's peak	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.	6
HP:0009890	HP:0000349	Widow's peak	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0009890	HP:0000349	Widow's peak	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional	1
HP:0009890	HP:0000349	Widow's peak	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18

Genes (64) :ADARB1 ADNP ALX1 ALX3 ANKRD17 ATP6V1B2 BICRA CCNK CDH1 CLCN3 CPLX1 CTBP1 CWC27 DLX4 DPH2 EFNB1 FGD1 GDF11 GMPPA GNB2 H1-4 H4C5 HEATR3 HS2ST1 HYOU1 IFIH1 KCNH1 KDM1A LETM1 LMX1B LRP2 MED12 MEIS2 MID1 NELFA NEPRO NOVA2 NSD1 NSD2 PEX1 PEX6 PIGG PIGK PPP1CB RALGAPA1 RERE SATB1 SETD2 SIN3A SLC35C1 SLC9A7 SMO SOS1 SPECC1L SPEN STAG2 STT3A SYT1 TBL1XR1 THOC6 TWIST1 UGP2 WNT4 ZC4H2

Diseases (67) :OMIM:618862 ORPHA:404448 OMIM:615873 ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:619504 OMIM:616455 OMIM:619325 OMIM:618147 OMIM:119580 OMIM:619512 ORPHA:280 OMIM:250410 OMIM:616788 OMIM:620062 ORPHA:1520 OMIM:304110 OMIM:305400 ORPHA:915 OMIM:619122 OMIM:615510 OMIM:619503 OMIM:617537 OMIM:619950 OMIM:620072 OMIM:619194 OMIM:233600 OMIM:182250 ORPHA:420561 ORPHA:477993 ORPHA:2614 ORPHA:2143 OMIM:300895 OMIM:600987 ORPHA:2745 OMIM:300000 OMIM:618853 OMIM:618859 OMIM:117550 ORPHA:3220 OMIM:618879 OMIM:617506 OMIM:618797 OMIM:616975 OMIM:619229 OMIM:616831 ORPHA:94065 OMIM:613406 OMIM:266265 OMIM:301024 OMIM:601707 OMIM:610733 OMIM:145420 ORPHA:1519 OMIM:619312 OMIM:301022 OMIM:619714 ORPHA:522077 OMIM:602342 ORPHA:487825 OMIM:613680 ORPHA:363444 OMIM:617746 OMIM:618744 ORPHA:247768 OMIM:314580

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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