Human Phenotype Ontology 
Grandparent Node:
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Abnormal hair morphology (HP:0001595)help
Parent Node:
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Abnormality of hair texture (HP:0010719)help
..Starting node
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Woolly hair (HP:0002224)help
Term ID: 2224
Name: Woolly hair
Synonym: Afro-textured hair; Kinked hair; Kinky hair texture; Nappy hair texture; Wooly hair
Definition: The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.
Comments:
Reference: HP:0002224
Genes and Diseases:
 
       Child Nodes:
........expandWoolly scalp hair (HP:0040149) help

 Sister Nodes: 
..expandBrittle hair (HP:0002299) help
..expandCoarse hair (HP:0002208) help
..expandCurly hair (HP:0002212) help
..expandDry hair (HP:0011359) help
..expandFine hair (HP:0002213) help
..expandUncombable hair (HP:0030056) 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:0002224HP:0002224Woolly hair0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0002224HP:0002224Woolly hair0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040281 - Very frequent192
HP:0002224HP:0002224Woolly hair0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0002224HP:0002224Woolly hair0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0002224HP:0002224Woolly hair0DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11.268
HP:0002224HP:0002224Woolly hair0DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0002224HP:0002224Woolly hair0DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis.747
HP:0002224HP:0002224Woolly hair0DSP CL E G H18323052ORPHA:65282Carvajal syndromeHP:0040281 - Very frequent747
HP:0002224HP:0002224Woolly hair0DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome.747
HP:0002224HP:0002224Woolly hair0EFNB1 CL E G H19473226ORPHA:1520Craniofrontonasal dysplasiaHP:0040282 - Frequent27
HP:0002224HP:0002224Woolly hair0GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040282 - Frequent121
HP:0002224HP:0002224Woolly hair0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040281 - Very frequent113
HP:0002224HP:0002224Woolly hair0HRAS CL E G H32655173ORPHA:79414Woolly hair nevus113
HP:0002224HP:0002224Woolly hair0JUP CL E G H37286207ORPHA:34217Naxos diseaseHP:0040281 - Very frequent222
HP:0002224HP:0002224Woolly hair0JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0002224HP:0002224Woolly hair0KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair.1
HP:0002224HP:0002224Woolly hair0KRT25 CL E G H14718330839ORPHA:170Woolly hairHP:0040281 - Very frequent2
HP:0002224HP:0002224Woolly hair0KRT71 CL E G H11280228927OMIM:615896Hypotrichosis 13.1
HP:0002224HP:0002224Woolly hair0KRT71 CL E G H11280228927ORPHA:170Woolly hairHP:0040281 - Very frequent1
HP:0002224HP:0002224Woolly hair0KRT74 CL E G H12139128929ORPHA:170Woolly hairHP:0040281 - Very frequent5
HP:0002224HP:0002224Woolly hair0KRT74 CL E G H12139128929OMIM:194300Woolly hair, autosomal dominant.5
HP:0002224HP:0002224Woolly hair0LIPH CL E G H20087918483OMIM:604379Hypotrichosis 7HP:0040283 - Occasional12
HP:0002224HP:0002224Woolly hair0LIPH CL E G H20087918483ORPHA:170Woolly hairHP:0040281 - Very frequent12
HP:0002224HP:0002224Woolly hair0LPAR6 CL E G H1016115520OMIM:278150Hypotrichosis 8HP:0040283 - Occasional8
HP:0002224HP:0002224Woolly hair0LPAR6 CL E G H1016115520ORPHA:170Woolly hairHP:0040281 - Very frequent8
HP:0002224HP:0002224Woolly hair0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0002224HP:0002224Woolly hair0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive.9
HP:0002224HP:0002224Woolly hair0PADI3 CL E G H5170218337ORPHA:1410Uncombable hair syndromeHP:0040281 - Very frequent3
HP:0002224HP:0002224Woolly hair0PERP CL E G H6406517637OMIM:619209ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0002224HP:0002224Woolly hair0PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0002224HP:0002224Woolly hair0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0002224HP:0002224Woolly hair0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040281 - Very frequent
HP:0002224HP:0002224Woolly hair0SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2.
HP:0002224HP:0002224Woolly hair0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040281 - Very frequent
HP:0002224HP:0002224Woolly hair0SKIC3 CL E G H965223639OMIM:222470Trichohepatoenteric syndrome 1.
HP:0002224HP:0002224Woolly hair0TGM3 CL E G H705311779ORPHA:1410Uncombable hair syndromeHP:0040281 - Very frequent1
HP:0002224HP:0002224Woolly hair0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0002224HP:0040149Woolly scalp hair1HRAS CL E G H32655173ORPHA:79414Woolly hair nevus113


Genes (25) :AARS1 ATP7A BRAF CCDC47 DSC2 DSP EFNB1 GAN HRAS JUP KANK2 KRT25 KRT71 KRT74 LIPH LPAR6 MAP2K1 MPLKIP PADI3 PERP PTPN11 SKIC2 SKIC3 TGM3 TTC5

Diseases (29) :OMIM:619691 ORPHA:565 OMIM:163950 OMIM:618268 OMIM:610476 OMIM:605676 OMIM:615821 ORPHA:65282 OMIM:607655 ORPHA:1520 ORPHA:643 ORPHA:3071 ORPHA:79414 ORPHA:34217 OMIM:601214 OMIM:616099 ORPHA:170 OMIM:615896 OMIM:194300 OMIM:604379 OMIM:278150 OMIM:234050 ORPHA:1410 OMIM:619209 OMIM:619208 ORPHA:84064 OMIM:614602 OMIM:222470 OMIM:619244
 

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