Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
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Growth Disorders (D006130)
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Hair Diseases (D006201)
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Pili torti developmental delay neurological abnormalities (C537398)

       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:8941
Name:Pili torti developmental delay neurological abnormalities
Definition:
Alternative IDs:
ParentIDs:MESH:D006130|MESH:D006201
TreeNumbers:C17.800.329/C537398 |C23.550.393/C537398
Synonyms:Pili torti and developmental delay
Slim Mappings:Pathology (process)|Skin disease
Reference: MedGen: C537398
MeSH: C537398
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants