Human Phenotype Ontology 
Grandparent Node:
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Abnormal hair pattern (HP:0010720)help
Parent Node:
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Congenital abnormal hair pattern (HP:0011361)help
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Abnormal hair whorl (HP:0010721)help
Term ID: 10721
Name: Abnormal hair whorl
Synonym: Abnormal hair whorl; Abnormal hair whorls; Abnormal whorl of hair
Definition: An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).
Comments:
Reference: HP:0010721
Genes and Diseases:
 
       Child Nodes:
........expandFrontal upsweep of hair (HP:0002236) help
........expandAbnormal number of hair whorls (HP:0010813) help
........expandAbnormal position of hair whorl (HP:0010814) help

 Sister Nodes: 
..expandAbnormality of the hairline (HP:0009553) help
..expandCongenital posterior occipital alopecia (HP:0007534) help
..expandTemporal hypotrichosis (HP:0004524) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010721HP:0010721Abnormal hair whorl0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0010721HP:0010721Abnormal hair whorl0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0010721HP:0010721Abnormal hair whorl0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0010721HP:0010721Abnormal hair whorl0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0010721HP:0010721Abnormal hair whorl0FLNA CL E G H23163754OMIM:300321Fg syndrome 2493
HP:0010721HP:0010721Abnormal hair whorl0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndrome184
HP:0010721HP:0010721Abnormal hair whorl0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0010721HP:0010721Abnormal hair whorl0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0010721HP:0010721Abnormal hair whorl0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0010721HP:0010721Abnormal hair whorl0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0010721HP:0010721Abnormal hair whorl0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0010721HP:0010721Abnormal hair whorl0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0010721HP:0010721Abnormal hair whorl0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0010721HP:0010721Abnormal hair whorl0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0010721HP:0010721Abnormal hair whorl0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0010721HP:0010721Abnormal hair whorl0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0010721HP:0010721Abnormal hair whorl0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome228
HP:0010721HP:0010721Abnormal hair whorl0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiency74
HP:0010721HP:0010721Abnormal hair whorl0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0010721HP:0010721Abnormal hair whorl0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0010721HP:0010721Abnormal hair whorl0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0010721HP:0010721Abnormal hair whorl0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0010721HP:0010721Abnormal hair whorl0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0010721HP:0010721Abnormal hair whorl0POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0010721HP:0010721Abnormal hair whorl0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36.13
HP:0010721HP:0010721Abnormal hair whorl0PPP2R1A CL E G H55189302ORPHA:457284Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional13
HP:0010721HP:0010721Abnormal hair whorl0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0010721HP:0010721Abnormal hair whorl0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0010721HP:0010721Abnormal hair whorl0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0010721HP:0010721Abnormal hair whorl0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0010721HP:0010721Abnormal hair whorl0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0010721HP:0010721Abnormal hair whorl0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0010721HP:0010721Abnormal hair whorl0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0010721HP:0010721Abnormal hair whorl0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0010721HP:0010721Abnormal hair whorl0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0010721HP:0010721Abnormal hair whorl0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0010721HP:0010721Abnormal hair whorl0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome25
HP:0010721HP:0010721Abnormal hair whorl0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040281 - Very frequent310
HP:0010721HP:0010721Abnormal hair whorl0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0010721HP:0010721Abnormal hair whorl0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0010721HP:0002236Frontal upsweep of hair1CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0010721HP:0002236Frontal upsweep of hair1CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0010721HP:0002236Frontal upsweep of hair1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0010721HP:0002236Frontal upsweep of hair1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0010721HP:0002236Frontal upsweep of hair1FLNA CL E G H23163754OMIM:300321Fg syndrome 2.493
HP:0010721HP:0002236Frontal upsweep of hair1FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0010721HP:0002236Frontal upsweep of hair1FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0010721HP:0002236Frontal upsweep of hair1HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0010721HP:0002236Frontal upsweep of hair1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0010721HP:0002236Frontal upsweep of hair1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0010721HP:0002236Frontal upsweep of hair1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0010721HP:0010813Abnormal number of hair whorls1IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome4
HP:0010721HP:0002236Frontal upsweep of hair1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0010721HP:0010814Abnormal position of hair whorl1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040283 - Occasional93
HP:0010721HP:0002236Frontal upsweep of hair1MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0010721HP:0002236Frontal upsweep of hair1MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0010721HP:0002236Frontal upsweep of hair1MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0010721HP:0002236Frontal upsweep of hair1MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0010721HP:0002236Frontal upsweep of hair1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0010721HP:0002236Frontal upsweep of hair1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0010721HP:0002236Frontal upsweep of hair1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0010721HP:0002236Frontal upsweep of hair1OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0010721HP:0002236Frontal upsweep of hair1POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0010721HP:0002236Frontal upsweep of hair1PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0010721HP:0002236Frontal upsweep of hair1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0010721HP:0002236Frontal upsweep of hair1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0010721HP:0002236Frontal upsweep of hair1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0010721HP:0002236Frontal upsweep of hair1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0010721HP:0002236Frontal upsweep of hair1TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0010721HP:0002236Frontal upsweep of hair1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0010721HP:0002236Frontal upsweep of hair1UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0010721HP:0002236Frontal upsweep of hair1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0010721HP:0002236Frontal upsweep of hair1YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7


Genes (36) :CAMK2A CAMTA1 CREBBP EP300 FLNA FOXP1 FRMPD4 HDAC4 HERC2 IFT140 IPW IRX5 LMNA MAGEL2 MAN1B1 MED12 MED13L MED27 MKRN3 MKRN3-AS1 NPAP1 OGT POLA1 PPP2R1A PPP2R3C PWAR1 PWRN1 SNORD115-1 SNORD116-1 STAMBP TCF4 TRIO UBE2A UBR1 WRN YY1

Diseases (30) :OMIM:617798 OMIM:614756 OMIM:180849 OMIM:300321 ORPHA:391372 OMIM:300983 OMIM:619797 OMIM:176270 OMIM:266920 OMIM:611174 ORPHA:79474 ORPHA:397941 ORPHA:93932 OMIM:305450 ORPHA:369891 OMIM:619286 OMIM:300997 OMIM:301220 OMIM:616362 ORPHA:457284 OMIM:618419 OMIM:614261 OMIM:610954 OMIM:617061 OMIM:300860 ORPHA:163956 OMIM:243800 ORPHA:902 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.