| Parent Terms |
Term With Siblings |
Child Terms |
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agnathia-otocephaly complex
Alves Castelo dos Santos Syndrome
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
APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME
Arthrogryposis and Ectodermal Dysplasia
arthrogryposis multiplex congenita +
autosomal dominant congenital deafness with onychodystrophy
autosomal recessive congenital ichthyosis +
bladder exstrophy-epispadias-cloacal exstrophy complex +
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
Compton-North congenital myopathy
congenital adrenal hyperplasia +
congenital adrenal insufficiency
congenital afibrinogenemia +
congenital amegakaryocytic thrombocytopenia +
congenital bilateral absence of vas deferens +
congenital bile acid synthesis defect +
congenital central hypoventilation syndrome +
congenital contractural arachnodactyly
congenital diaphragmatic hernia +
congenital disorder of glycosylation +
Congenital Ectodermal Dysplasia with Hearing Loss
congenital fibrosis of the extraocular muscles +
Congenital Foot Deformities +
congenital generalized lipodystrophy +
congenital granular cell tumor
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 mesoblastic nephroma +
congenital mirror movement disorder +
congenital muscular dystrophy +
congenital myasthenic syndrome +
congenital nervous system abnormality +
congenital stationary night blindness +
congenital stromal corneal dystrophy
congenital structural myopathy +
congenital sucrase-isomaltase deficiency
cranioectodermal dysplasia +
Deafness with Anhidrotic Ectodermal Dysplasia
Dermatoosteolysis Kirghizian Type
dermatopathia pigmentosa reticularis
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
Ellis-Van Creveld syndrome +
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
Euhidrotic Ectodermal Dysplasia
Focal Facial Dermal Dysplasia +
Freire-Maia Odontotrichomelic Syndrome
Halal Setton Wang Syndrome
Hay Wells Syndrome Recessive Type
Hidrotic Ectodermal Dysplasia, Autosomal Recessive
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
hypohidrotic ectodermal dysplasia +
Johanson-Blizzard syndrome
Jones Hersh Yusk Syndrome
junctional epidermolysis bullosa with pyloric atresia
Ladda Zonana Ramer Syndrome
large congenital melanocytic nevus
Leber congenital amaurosis +
lethal congenital contracture syndrome +
lethal congenital glycogen storage disease of heart
linear skin defects with multiple congenital anomalies 2
multiple congenital anomalies-hypotonia-seizures syndrome +
Naegeli-Franceschetti-Jadassohn syndrome
NEMO Mutation with Immunodeficiency
Neurocutaneous Syndromes +
NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1
non-congenital cyst of kidney
nonsyndromic aplasia cutis congenita
nonsyndromic congenital nail disorder +
Odontomicronychial Dysplasia
Odontoonychodermal Dysplasia
Odontotrichoungual-Digital-Palmar Syndrome
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
primary congenital glaucoma +
pure hair and nail ectodermal dysplasia +
rapidly involuting congenital hemangioma
renal-hepatic-pancreatic dysplasia +
Robinson Miller Bensimon Syndrome
Rosselli-Gulienetti Syndrome
scalp-ear-nipple syndrome
Schinzel Giedion syndrome
Schopf-Schulz-Passarge 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
Trichoodontoonychial Dysplasia
Trueb Burg Bottani Syndrome
Zika virus congenital syndrome
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| 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
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| Primary IDs: |
MIM:104100
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| Xrefs: |
GARD:604
;
ORDO:1010
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| Definition Sources: |
PMID:20635335 "DO" "DO", PMID:25168385 "DO" "DO" |
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