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:
Congenital abnormal hair pattern (HP:0011361)

Parent Node:
Abnormal hair whorl (HP:0010721)

..Starting node
..Frontal upsweep of hair (HP:0002236)

Term ID:

2236

Name:

Frontal upsweep of hair

Synonym:

Cowlick; Frontal Cowlick; Frontal upsweep of hair; Upswept frontal hair; Upswept frontal hair pattern; Upswept frontal hairline

Definition:

Upward and/or sideward growth of anterior hair.

Comments:

Reference:

HP:0002236

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal number of hair whorls (HP:0010813)

Abnormal position of hair whorl (HP:0010814)

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:0002236	HP:0002236	Frontal upsweep of hair	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53		1
HP:0002236	HP:0002236	Frontal upsweep of hair	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0002236	HP:0002236	Frontal upsweep of hair	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0002236	HP:0002236	Frontal upsweep of hair	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0002236	HP:0002236	Frontal upsweep of hair	0	FLNA CL E G H	2316	3754	OMIM:300321	Fg syndrome 2	.	493
HP:0002236	HP:0002236	Frontal upsweep of hair	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent	184
HP:0002236	HP:0002236	Frontal upsweep of hair	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0002236	HP:0002236	Frontal upsweep of hair	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0002236	HP:0002236	Frontal upsweep of hair	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0002236	HP:0002236	Frontal upsweep of hair	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0002236	HP:0002236	Frontal upsweep of hair	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002236	HP:0002236	Frontal upsweep of hair	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0002236	HP:0002236	Frontal upsweep of hair	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0002236	HP:0002236	Frontal upsweep of hair	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0002236	HP:0002236	Frontal upsweep of hair	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0002236	HP:0002236	Frontal upsweep of hair	0	MED27 CL E G H	9442	2377	OMIM:619286	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002236	HP:0002236	Frontal upsweep of hair	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0002236	HP:0002236	Frontal upsweep of hair	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002236	HP:0002236	Frontal upsweep of hair	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0002236	HP:0002236	Frontal upsweep of hair	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0002236	HP:0002236	Frontal upsweep of hair	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0002236	HP:0002236	Frontal upsweep of hair	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0002236	HP:0002236	Frontal upsweep of hair	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002236	HP:0002236	Frontal upsweep of hair	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002236	HP:0002236	Frontal upsweep of hair	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002236	HP:0002236	Frontal upsweep of hair	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002236	HP:0002236	Frontal upsweep of hair	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0002236	HP:0002236	Frontal upsweep of hair	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0002236	HP:0002236	Frontal upsweep of hair	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0002236	HP:0002236	Frontal upsweep of hair	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0002236	HP:0002236	Frontal upsweep of hair	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7

Genes (29) :CAMK2A CAMTA1 CREBBP EP300 FLNA FOXP1 FRMPD4 HDAC4 HERC2 IFT140 IPW MAGEL2 MED12 MED13L MED27 MKRN3 MKRN3-AS1 NPAP1 OGT POLA1 PPP2R3C PWAR1 PWRN1 SNORD115-1 SNORD116-1 TCF4 TRIO UBR1 YY1

Diseases (21) :OMIM:617798 OMIM:614756 OMIM:180849 OMIM:300321 ORPHA:391372 OMIM:300983 OMIM:619797 OMIM:176270 OMIM:266920 ORPHA:93932 OMIM:305450 ORPHA:369891 OMIM:619286 OMIM:300997 OMIM:301220 OMIM:618419 OMIM:610954 OMIM:617061 OMIM:243800 ORPHA:506358 OMIM:617557

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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