Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
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Hair Diseases (D006201)
..Starting node
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Pili Torti (C562485)

       Child Nodes:



 Sister Nodes: 
..expandBamforth syndrome (C537901)
..expandBird headed dwarfism Montreal type (C535448)
..expandBjornstad syndrome (C537633)
..expandCardiomyopathy dilated with Woolly hair and keratoderma (C535581)
..expandCatatrichy (C535346)
..expandCopper deficiency, familial benign (C535468)
..expandCurly hair-ankyloblepharon-nail dysplasia syndrome (C538074)
..expandDermoodontodysplasia (C565103)
..expandECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (OMIM:602032)
..expandFLOTCH syndrome (C537065)
..expandFolliculitis (D005499) Child2
..expandGiedion syndrome (C536820)
..expandHairy palms and soles (C535620)
..expandHirsutism (D006628) Child6
..expandHypertrichosis (D006983) Child27
..expandHypotrichosis (D007039) Child89
..expandKaler Garrity Stern syndrome (C537706)
..expandKatsantoni Papadakou Lagoyanni syndrome (C537012)
..expandKozlowski-Krajewska syndrome (C537615)
..expandMartinez Monasterio Pinheiro syndrome (C536027)
..expandMenkes Kinky Hair Syndrome (D007706) Child1
..expandMonilethrix (D056734) Child1
..expandNaxos disease (C538346)
..expandOculotrichodysplasia (C564934)
..expandOnychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..expandPiedra (D010854)
..expandPili annulati (C537187)
..expandPili multigemini (C537188)
..expandPili Torti (C562485)
..expandPili torti developmental delay neurological abnormalities (C537398)
..expandPili torti onychodysplasia (C537399)
..expandPseudofolliculitis Barbae (C563016)
..expandPseudomonilethrix (C562988)
..expandRodrigues blindness (C535865)
..expandSkin Fragility-Woolly Hair Syndrome (C564359)
..expandTrichilemmal Cyst 1 (C566458)
..expandTricho-dento-osseous syndrome (C536549)
..expandTricho-dento-osseous syndrome 1 (C536550)
..expandTRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..expandTrichodysplasia-Xeroderma (C566032)
..expandTrichohepatoenteric Syndrome (C565627)
..expandTrichorhinophalangeal Syndrome, Type III (C566033)
..expandTrichostasis spinulosa (C536558)
..expandTRICHOTHIODYSTROPHY, PHOTOSENSITIVE;TTDP ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH (OMIM:601675)
..expandUncombable hair syndrome (C536939)
..expandWhite forelock with malformations (C536700)
..expandWOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
..expandWoolly Hair, Autosomal Recessive (C564735)
..expandWoolly hair, congenital (C536745)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8940
Name:Pili Torti
Definition:
Alternative IDs:
ParentIDs:MESH:D006201
TreeNumbers:C17.800.329/C562485
Synonyms:Twisted Hair
Slim Mappings:Skin disease
Reference: MedGen: C562485
MeSH: C562485
OMIM: 261900;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0002299Brittle hair
4 HP:0002208Coarse hair
5 HP:0011359Dry hair
6 HP:0006297Enamel hypoplasia
7 HP:0003329Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
8 HP:0003777Pili torti
9 HP:0003745Sporadic
Disease Causing ClinVar Variants