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Ontology Browser

Term:
palmoplantar keratoderma and congenital alopecia 1 (DOID:0111244)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
ACCES Syndrome  
Adams-Oliver syndrome +   
ADULT syndrome  
agnathia-otocephaly complex  
Alves Castelo dos Santos Syndrome 
Anal Sphincter Dysplasia  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Aplasia Cutis Congenita of Limbs Recessive 
Aplasia Cutis Congenita with Intestinal Lymphangiectasia 
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 
AREDYLD Syndrome 
Arthrogryposis and Ectodermal Dysplasia 
arthrogryposis multiplex congenita +   
autosomal dominant congenital deafness with onychodystrophy  
autosomal recessive congenital ichthyosis +   
BASAN syndrome  
bladder exstrophy-epispadias-cloacal exstrophy complex +   
blepharophimosis +   
Bresheck/Bresek Syndrome 
Brunoni Syndrome 
cardiofaciocutaneous syndrome +   
cartilage-hair hypoplasia  
caudal regression syndrome  
Cerebellar Ataxia and Ectodermal Dysplasia 
Charcot Marie Tooth Type 1 Aplasia Cutis Congenita 
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8  
cleft lip-palate-ectodermal dysplasia syndrome  
cleft palate-lateral synechia syndrome  
Clouston syndrome  
congenital adrenal hyperplasia +   
congenital adrenal insufficiency  
congenital afibrinogenemia +   
congenital amegakaryocytic thrombocytopenia  
congenital aphakia  
congenital bilateral absence of vas deferens +   
congenital bile acid synthesis defect +   
congenital central hypoventilation syndrome +   
congenital chylothorax  
congenital contractural arachnodactyly  
congenital diaphragmatic hernia +   
congenital diarrhea +   
congenital disorder of glycosylation +   
Congenital Ectodermal Dysplasia with Hearing Loss 
congenital epulis 
congenital fibrosarcoma 
congenital fibrosis of the extraocular muscles +   
Congenital Foot Deformities +   
congenital generalized lipodystrophy +   
congenital granular cell tumor 
congenital heart block +   
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA  
congenital heart disease +   
congenital hemolytic anemia +   
congenital hereditary endothelial dystrophy of cornea  
congenital hypogammaglobulinemia 
congenital hypoplastic anemia +   
congenital hypothyroidism +   
congenital hypotrichosis with juvenile macular dystrophy  
congenital intrinsic factor deficiency  
congenital lactase deficiency  
congenital leptin deficiency  
congenital megabladder  
congenital mesoblastic nephroma +   
congenital mirror movement disorder +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
congenital myopathy +   
congenital nervous system abnormality +   
congenital nystagmus +   
congenital ptosis +   
congenital stationary night blindness +   
congenital stromal corneal dystrophy  
congenital structural myopathy +   
congenital sucrase-isomaltase deficiency  
congenital syphilis +  
congenital toxoplasmosis  
cranioectodermal dysplasia +   
cryptophthalmia +   
Deafness with Anhidrotic Ectodermal Dysplasia 
Dermatoosteolysis Kirghizian Type 
dermatopathia pigmentosa reticularis  
developmental cardiac valvular defect  
ectodermal dysplasia 13  
ectodermal dysplasia 14  
ectodermal dysplasia 8 
Ectodermal Dysplasia Adrenal Cyst 
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES  
Ectodermal Dysplasia with Natal Teeth, Turnpenny Type 
Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome  
Ectodermal Dysplasia, Mental Retardation, Syndactyly 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
Ectodermal Dysplasia, Trichoodontoonychial Type 
Ectodermal Dysplasia-Skin Fragility Syndrome  
Ectodermal Dysplasia-Syndactyly Syndrome +   
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate 
EEC syndrome +   
Ellis-Van Creveld syndrome +   
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
Euhidrotic Ectodermal Dysplasia 
focal dermal hypoplasia  
Focal Facial Dermal Dysplasia +   
Freire-Maia Odontotrichomelic Syndrome 
gastroschisis +   
Halal Setton Wang Syndrome 
Hay Wells Syndrome Recessive Type 
Hidrotic Ectodermal Dysplasia, Autosomal Recessive 
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type 
hypohidrotic ectodermal dysplasia +   
hypospadias +   
imperforate anus +   
Johanson-Blizzard syndrome  
Jones Hersh Yusk Syndrome 
junctional epidermolysis bullosa with pyloric atresia  
Klippel-Feil syndrome +   
Ladda Zonana Ramer syndrome 
large congenital melanocytic nevus  
laryngomalacia +   
Leber congenital amaurosis +   
Lelis Syndrome 
lethal congenital contracture syndrome +   
lethal congenital glycogen storage disease of heart  
linear skin defects with multiple congenital anomalies 2  
Marshall syndrome +   
Meckel's diverticulum 
MLS syndrome +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
Naegeli-Franceschetti-Jadassohn syndrome  
NEMO Mutation with Immunodeficiency 
neural tube defect +   
Neurocutaneous Syndromes +   
non-congenital cyst of kidney 
nonsyndromic aplasia cutis congenita  
nonsyndromic congenital nail disorder +   
oculoectodermal syndrome  
Odontomicronychial Dysplasia 
Odontoonychodermal Dysplasia  
Odontotrichoungual-Digital-Palmar Syndrome 
Ohdo syndrome +   
omphalocele  
orofacial cleft +   
orofacial cleft 7 +   
pachyonychia congenita +   
palmoplantar keratoderma and congenital alopecia 1  
An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. (DO)
palmoplantar keratoderma and congenital alopecia 2 
Papillon-Lefevre disease +   
photosensitive trichothiodystrophy 1  
Pinheiro Freire-Maia Miranda Syndrome 
Poland syndrome 
polydactyly +   
primary congenital glaucoma +   
pure hair and nail ectodermal dysplasia +   
radioulnar synostosis +   
rapidly involuting congenital hemangioma 
Rapp-Hodgkin syndrome  
Robinson Miller Bensimon Syndrome 
Rosselli-Gulienetti Syndrome 
scalp-ear-nipple syndrome  
Schopf-Schulz-Passarge syndrome  
Sener Syndrome 
Seres-Santamaria Arimany Muniz Syndrome 
severe congenital encephalopathy due to MECP2 mutation  
severe congenital neutropenia +   
Silver-Russell syndrome +   
spondyloepiphyseal dysplasia with congenital joint dislocations  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
Taurodontia, Absent Teeth, Sparse Hair 
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
TORCH syndrome 
Trichodental Syndrome 
Trichoodontoonychial Dysplasia 
Trichoscyphodysplasia 
Trueb Burg Bottani Syndrome 
visceral heterotaxy +   
Yunis-Varon syndrome  
Zika virus congenital syndrome 

Synonyms
Exact Synonyms: PPK-CA, Stevanovic type ;   PPKCA, Stevanovic type ;   PPKCA1 ;   autosomal dominant palmoplantar hyperkeratosis and congenital alopecia ;   autosomal dominant palmoplantar keratoderma and congenital alopecia ;   keratoderma-hypotrichosis-leukonychia totalis syndrome ;   palmoplantar keratoderma and congenital alopecia, Stevanovic type
Primary IDs: OMIM:104100
Xrefs: GARD:604 ;   ORDO:1010
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/20635335 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25168385 "DO" "DO"

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