Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the frontal hairline (HP:0000599)help
Parent Node:
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High anterior hairline (HP:0009890)help
..Starting node
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Widow's peak (HP:0000349)help
Term ID: 349
Name: Widow's peak
Synonym: Hairline peak; Hairline point; Pointed frontal hairline; Pointed hairline at front of head; V-shaped frontal hairline; Widow's peak
Definition: Frontal hairline with bilateral arcs to a low point in the midline of the forehead.
Comments:
Reference: HP:0000349
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000349HP:0000349Widow's peak0ALX1 CL E G H80921494ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndromeHP:0040282 - Frequent5
HP:0000349HP:0000349Widow's peak0ALX3 CL E G H257449OMIM:136760Frontonasal dysplasia 1.9
HP:0000349HP:0000349Widow's peak0ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040282 - Frequent9
HP:0000349HP:0000349Widow's peak0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 2HP:0040283 - Occasional5
HP:0000349HP:0000349Widow's peak0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0000349HP:0000349Widow's peak0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0000349HP:0000349Widow's peak0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0000349HP:0000349Widow's peak0GDF11 CL E G H102204216OMIM:619122VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES; VHO
HP:0000349HP:0000349Widow's peak0HEATR3 CL E G H5502726087OMIM:620072
HP:0000349HP:0000349Widow's peak0LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndromeHP:0040281 - Very frequent289
HP:0000349HP:0000349Widow's peak0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040282 - Frequent57
HP:0000349HP:0000349Widow's peak0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I.57
HP:0000349HP:0000349Widow's peak0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000349HP:0000349Widow's peak0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000349HP:0000349Widow's peak0SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc71
HP:0000349HP:0000349Widow's peak0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type.6
HP:0000349HP:0000349Widow's peak0SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndromeHP:0040282 - Frequent6
HP:0000349HP:0000349Widow's peak0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0000349HP:0000349Widow's peak0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18


Genes (15) :ALX1 ALX3 ATP6V1B2 EFNB1 FGD1 GDF11 HEATR3 LRP2 MID1 RERE SATB1 SLC35C1 SPECC1L SYT1 TWIST1

Diseases (19) :ORPHA:306542 OMIM:136760 ORPHA:391474 OMIM:616455 ORPHA:1520 OMIM:304110 OMIM:305400 OMIM:619122 OMIM:620072 ORPHA:2143 ORPHA:2745 OMIM:300000 OMIM:616975 OMIM:619229 OMIM:266265 OMIM:145420 ORPHA:1519 ORPHA:522077 OMIM:617746
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.