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Term:
pachyonychia congenita (DOID:0050449)
Annotations: Rat: (2) Mouse: (3) Human: (4) Chinchilla: (2) Bonobo: (3) Dog: (3) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
nail disease +     
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
achondrogenesis type II  
acrofacial dysostosis Cincinnati type  
acrokeratosis verruciformis  
Adams-Oliver syndrome +   
ADULT syndrome  
adult-onset autosomal dominant demyelinating leukodystrophy  
advanced sleep phase syndrome +   
age related macular degeneration +   
Al Gazali Hirschsprung Syndrome 
Alexander Disease  
Alves Castelo dos Santos Syndrome 
Alzheimer's disease 1 +   
Alzheimer's disease 2  
Alzheimer's disease 3 +   
Alzheimer's disease 4  
Alzheimer's disease 5 
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
amelogenesis imperfecta type 4  
Anal Sphincter Dysplasia 
Andersen-Tawil syndrome  
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
anonychia congenita +   
Aplasia Cutis Congenita Intestinal Lymphangiectasia 
Aplasia Cutis Congenita of Limbs Recessive 
Aplasia Cutis Congenita with Epibulbar Dermoids  
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 
APP-related cerebral amyloid angiopathy  
AREDYLD Syndrome 
arrhythmogenic right ventricular dysplasia 1  
arrhythmogenic right ventricular dysplasia 10  
arrhythmogenic right ventricular dysplasia 11  
arrhythmogenic right ventricular dysplasia 12  
arrhythmogenic right ventricular dysplasia 13  
arrhythmogenic right ventricular dysplasia 2  
arrhythmogenic right ventricular dysplasia 3 
arrhythmogenic right ventricular dysplasia 4 
arrhythmogenic right ventricular dysplasia 5  
arrhythmogenic right ventricular dysplasia 8  
arrhythmogenic right ventricular dysplasia 9  
Arthrogryposis and Ectodermal Dysplasia 
atrial heart septal defect 2  
atrial heart septal defect 5  
atrial heart septal defect 6  
atrial heart septal defect 7  
atrial heart septal defect 8  
atrial heart septal defect 9  
autoimmune lymphoproliferative syndrome type 2A  
autoimmune lymphoproliferative syndrome type 4  
autosomal dominant Alport syndrome  
autosomal dominant cerebellar ataxia +   
autosomal dominant chondrodysplasia punctata +  
autosomal dominant chronic granulomatous disease 
autosomal dominant cutis laxa +   
Autosomal Dominant Dyskeratosis Congenita +   
autosomal dominant Emery-Dreifuss muscular dystrophy 4  
autosomal dominant Emery-Dreifuss muscular dystrophy 5  
autosomal dominant Emery-Dreifuss muscular dystrophy 7  
autosomal dominant familial periodic fever  
autosomal dominant hypocalcemia +   
autosomal dominant hypophosphatemic rickets  
autosomal dominant isolated ectopia lentis 1  
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal dominant limb-girdle muscular dystrophy +   
autosomal dominant macrothrombocytopenia TUBB1-related  
autosomal dominant mental retardation 55  
autosomal dominant mental retardation 56  
autosomal dominant microcephaly +   
autosomal dominant nocturnal frontal lobe epilepsy +   
autosomal dominant non-syndromic intellectual disability +   
autosomal dominant nonsyndromic deafness +   
autosomal dominant osteopetrosis 1  
autosomal dominant osteopetrosis 2  
autosomal dominant Parkinson's disease 1  
autosomal dominant Parkinson's disease 4  
autosomal dominant Parkinson's disease 8  
autosomal dominant polycystic kidney disease +   
autosomal dominant pseudohypoaldosteronism type 1  
autosomal dominant Robinow syndrome 1  
autosomal dominant Robinow syndrome 2  
autosomal dominant Robinow syndrome 3  
autosomal dominant sensory ataxia 1  
autosomal dominant sideroblastic anemia 4  
autosomal dominant type IV Ehlers-Danlos syndrome +   
Axenfeld-Rieger syndrome +   
Bannayan-Riley-Ruvalcaba syndrome  
Bart-Pumphrey syndrome  
Basan Syndrome  
Basaran Yilmaz Syndrome  
Beare-Stevenson cutis gyrata syndrome  
Birk-Barel syndrome  
Birt-Hogg-Dube syndrome  
Blau syndrome  
blepharocheilodontic syndrome +   
blepharophimosis, ptosis, and epicanthus inversus syndrome  
blue color blindness  
brachydactyly type A1 +   
brachydactyly type A2  
Brachydactyly Type A5 Nail Dysplasia 
brachydactyly type C  
brachydactyly type D  
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Bresheck/Bresek Syndrome 
Brooke-Spiegler syndrome  
Brown-Vialetto-Van Laere syndrome +   
Brugada syndrome 1  
Brugada syndrome 7  
Brugada syndrome 9  
Brunoni Syndrome 
bullous congenital ichthyosiform erythroderma  
CADASIL 1  
CADASIL 2  
campomelic dysplasia +   
candidal paronychia 
cardiofaciocutaneous syndrome +   
Carney complex +   
Cerebellar Ataxia Ectodermal Dysplasia 
Charcot-Marie-Tooth disease dominant intermediate A 
Charcot-Marie-Tooth disease dominant intermediate B +   
Charcot-Marie-Tooth disease dominant intermediate C  
Charcot-Marie-Tooth disease dominant intermediate D  
Charcot-Marie-Tooth disease dominant intermediate E  
Charcot-Marie-Tooth disease dominant intermediate F  
cherubism +   
chronic mucocutaneous candidiasis +   
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 
cleft lip-palate-ectodermal dysplasia syndrome  
Clouston syndrome  
Congenital Ectodermal Dysplasia with Hearing Loss 
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia 
Costello syndrome  
Cowden syndrome +   
Crouzon syndrome-acanthosis nigricans syndrome  
Culler-Jones syndrome  
Deafness with Anhidrotic Ectodermal Dysplasia 
Denys-Drash syndrome  
Dermatoosteolysis Kirghizian Type 
Dermatopathia Pigmentosa Reticularis  
Double Nail for Fifth Toe 
Duane-radial ray syndrome  
dysplastic nevus syndrome +   
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant  
ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE  
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE  
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS  
Ectodermal Dysplasia 4, Hair/Nail Type  
Ectodermal Dysplasia 7, Hair/Nail Type  
Ectodermal Dysplasia 9, Hair/Nail Type  
Ectodermal Dysplasia Adrenal Cyst 
Ectodermal Dysplasia Alopecia Preaxial Polydactyly 
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia Mental Retardation Syndactyly 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 
Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant  
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy  
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type 
Ectodermal Dysplasia, Pure Hair-Nail Type 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectodermal Dysplasia, Trichoodontoonychial Type 
Ectodermal Dysplasia-Skin Fragility Syndrome  
Ectodermal Dysplasia-Syndactyly Syndrome 1  
Ectodermal Dysplasia-Syndactyly Syndrome 2 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
EEC syndrome +   
Ellis-Van Creveld syndrome +   
Epidermolysis Bullosa Simplex with Nail Dystrophy  
Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 
Euhidrotic Ectodermal Dysplasia 
familial cold autoinflammatory syndrome 4  
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
Feingold syndrome +   
FLOTCH Syndrome 
focal dermal hypoplasia +   
Focal Facial Dermal Dysplasia  
Frasier syndrome  
Freire-Maia Odontotrichomelic Syndrome 
Hajdu-Cheney syndrome  
Halal Setton Wang Syndrome 
hand-foot-genital syndrome  
Hay Wells Syndrome Recessive Type 
hereditary breast ovarian cancer syndrome +   
hereditary hemorrhagic telangiectasia +   
hereditary spastic paraplegia 10  
hereditary spastic paraplegia 12  
hereditary spastic paraplegia 13  
hereditary spastic paraplegia 19 
hereditary spastic paraplegia 29 
hereditary spastic paraplegia 31  
hereditary spastic paraplegia 33  
hereditary spastic paraplegia 36 
hereditary spastic paraplegia 37 
hereditary spastic paraplegia 38 
hereditary spastic paraplegia 3A  
hereditary spastic paraplegia 4  
hereditary spastic paraplegia 41 
hereditary spastic paraplegia 42  
hereditary spastic paraplegia 6  
hereditary spastic paraplegia 73  
hereditary spastic paraplegia 8  
Hidrotic Ectodermal Dysplasia, Autosomal Recessive 
Holt-Oram syndrome  
Hooft Disease 
hypohidrotic ectodermal dysplasia +   
hypomyelinating leukodystrophy 6  
hypophosphatasia +   
ichthyosis vulgaris +   
iridogoniodysgenesis syndrome +   
Johanson-Blizzard syndrome  
Jones Hersh Yusk Syndrome 
Judge Misch Wright Syndrome 
junctional epidermolysis bullosa with pyloric atresia  
juvenile polyposis syndrome +   
LADD syndrome  
Ladda Zonana Ramer syndrome 
Larsen syndrome  
Lelis Syndrome 
LEOPARD syndrome +   
Leukonychia Totalis +   
Li-Fraumeni syndrome +   
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2  
Loeys-Dietz syndrome +   
Lynch syndrome +   
macrocephaly-autism syndrome  
malignant hyperthermia +   
mandibulofacial dysostosis, Guion-Almeida type  
maturity-onset diabetes of the young +   
McCune Albright syndrome  
mitochondrial DNA depletion syndrome 12a  
monilethrix +   
Muckle-Wells syndrome  
multiple cutaneous and mucosal venous malformations  
Multiple Endocrine Neoplasia +   
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
Naegeli Syndrome  
nail-patella syndrome +   
Nails, Ingrown 
NEMO Mutation with Immunodeficiency 
Neurocutaneous Syndromes +   
neurofibromatosis +   
nevoid basal cell carcinoma syndrome +   
nonsyndromic congenital nail disorder 1 
nonsyndromic congenital nail disorder 10  
nonsyndromic congenital nail disorder 2 
nonsyndromic congenital nail disorder 3  
nonsyndromic congenital nail disorder 4  
nonsyndromic congenital nail disorder 5 
nonsyndromic congenital nail disorder 6 
nonsyndromic congenital nail disorder 7 
nonsyndromic congenital nail disorder 8  
ocular albinism with sensorineural deafness  
Odontomicronychial Dysplasia 
Odontoonychodermal Dysplasia  
Odontotrichoungual-Digital-Palmar Syndrome 
Ohdo syndrome +   
Onycholysis +   
Opitz GBBB Syndrome, Type II  
orofacial cleft 7 +   
ovarian dysgenesis 8  
pachyonychia congenita +   
A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS.
Pallister-Hall syndrome +   
Palmoplantar Keratoderma, Spastic Paralysis 
paraganglioma +   
paronychia 
Patel Bixler Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair 
Pelger-Huet anomaly +   
permanent neonatal diabetes mellitus +   
photosensitive trichothiodystrophy +   
Photosensitive Trichothiodystrophy 1  
piebaldism +   
Pinheiro Freire-Maia Miranda Syndrome 
polycystic liver disease +   
popliteal pterygium syndrome +   
proximal symphalangism  
punctate palmoplantar keratoderma type III 
Rapp-Hodgkin syndrome  
renal coloboma syndrome  
Robinson Miller Bensimon Syndrome 
Rosselli-Gulienetti Syndrome 
Rubinstein-Taybi syndrome +   
SADDAN  
Sener Syndrome 
Sensenbrenner syndrome +   
Seres-Santamaria Arimany Muniz Syndrome 
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
Stickler syndrome +   
Subungual Exostoses 
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
tarsal-carpal coalition syndrome  
Taurodontia Absent Teeth Sparse Hair 
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Tietz syndrome  
Timothy syndrome  
tinea favosa 
tinea unguium 
Townes-Brocks syndrome  
transthyretin amyloidosis  
Treacher Collins syndrome  
Trichodental Syndrome 
Trichoodontoonychial Dysplasia 
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
Trichoscyphodysplasia 
Trueb Burg Bottani Syndrome 
tuberous sclerosis +   
type 1 diabetes mellitus 2  
Waardenburg's syndrome +   
yellow nail syndrome +  
Yunis-Varon syndrome  

Synonyms
Exact Synonyms: Congenital Pachyonychia ;   Congenital Pachyonychias ;   Jackson Lawler Type Pachyonychia Congenita ;   Jackson-Lawler Syndrome (Pc-2) ;   Jadassohn Lewandowsky Syndrome ;   Jadassohn-Lewandowski Syndrome (Pc-1) ;   PACHYONYCHIA CONGENITA 1 ;   PACHYONYCHIA CONGENITA 2 ;   PACHYONYCHIA CONGENITA 3 ;   PACHYONYCHIA CONGENITA 4 ;   PC-K6a ;   PC1 ;   PC2 ;   PC3 ;   PC4 ;   Pachyonychia Congenita Syndrome ;   Pachyonychia Congenita Syndromes ;   Pachyonychia Congenita Tarda, Type 1 ;   Pachyonychia Congenita Type 1 ;   Pachyonychia Congenita Type 2 ;   Pachyonychia Congenita, Jadassohn Lewandowsky Type
Primary IDs: MESH:D053549 ;   RDO:0003106
Alternate IDs: OMIM:167200 ;   OMIM:167210 ;   OMIM:615726 ;   OMIM:615728
Xrefs: GARD:10753
Definition Sources: MESH:D053549, https://ghr.nlm.nih.gov/condition/pachyonychia-congenita

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