Category:Genetic disorder stubs
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Pages in category "Genetic disorder stubs"
The following 200 pages are in this category, out of 366 total.
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A
- Abdallat–Davis–Farrage syndrome
- Abruzzo–Erickson syndrome
- Acatalasia
- Acheiropodia
- Achondrogenesis type 1B
- Acrofrontofacionasal dysostosis
- Acrofrontofacionasal dysostosis syndrome
- Acromesomelic dysplasia
- ADA-SCID
- Albinic
- Aldosterone synthase deficiency
- Aldred syndrome
- Alopecia contractures dwarfism mental retardation
- Alopecia contractures dwarfism mental retardation syndrome
- Aminolevulinic acid dehydratase deficiency porphyria
- Angel-shaped phalango-epiphyseal dysplasia
- Ataxia with vitamin E deficiency
- ATR-X
- ATR-X syndrome
- Autosomal dominant hypophosphatemic rickets
- Autosomal recessive isolated ectopia lentis
- Axenfeld syndrome
B
C
- Camptodactyly overgrowth unusual facies
- Canavan
- Cardiomelic syndrome Stratton Koehler type
- Cardiomyopathy hearing loss type t RNA lysine gene mutation
- Carnevale–Hernandez–Castillo syndrome
- Cataract dental syndrome
- Cataract skeletal anomalies
- Centromeric instability immunodeficiency syndrome
- Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome
- Chediak-higashi syndrome
- Cholemia
- Chondrodysplasia punctata
- Chorioretinopathy dominant form microcephaly
- Chromosome 10p deletion
- Chromosome 11q deletion
- Chromosome 15q duplication
- Chromosome 2q deletion
- Chylomicron retention disease
- Cleft lip palate dysmorphism Kumar type
- Cleidocranial
- Collagenopathy, types II and XI
- Complement 4 deficiency
- Congenital disorder of glycosylation type IIc
- Congenital ichthyosiform erythroderma
- Congenital myasthenic syndrome
- Corneal dystrophy-perceptive deafness syndrome
- Cortes Lacassie syndrome
- Craniometaphyseal dysplasia recessive type
- Cross syndrome
- Cutis Gyrata syndrome of Beare and Stevenson
- Cutis gyratum acanthosis nigricans craniosynostosis
- Cylindromatosis
D
- Daentl Townsend Siegel syndrome
- Dahlberg Borer Newcomer syndrome
- Danon disease
- DAVID syndrome
- Deafness craniofacial syndrome
- Deafness symphalangism
- Deal–Barratt–Dillon syndrome
- Desmin-related myofibrillar myopathy
- Diffuse leiomyomatosis with Alport syndrome
- Diffuse palmoplantar keratoderma, Bothnian type
- Diploid-triploid mosaicism
- Distal spinal muscular atrophy type 2
- DOCK8 deficiency
- Dunnigan familial partial lipodystrophy
- Dwarfism deafness retinitis pigmentosa
- Dwarfism syndesmodysplasic
E
- EAST syndrome
- Ectodermal dysplasia adrenal cyst
- Ectodermal dysplasia alopecia preaxial polydactyly
- Ectodermal dysplasia Berlin type
- Ectodermal dysplasia ectrodactyly macular dystrophy
- Ectodermal dysplasia mental retardation CNS malformation
- Ectodermal dysplasia mental retardation syndactyly
- Ectodermal dysplasia, hydrotic
- Ectrodactyly ectrodermal dysplasia
- Ectrodactyly–ectodermal dysplasia–cleft syndrome
- EEM syndrome
- Enamel-renal syndrome
- Englemann disease
- Epidermolysis bullosa dystrophica, dominant type
- Epidermolysis bullosa simplex with anodontia, hair
- Epidermolytic hyperkeratosis
- Epidermolytic palmoplantar keratoderma Vorner type
- Epimetaphyseal dysplasia cataract
- Erondu–Cymet syndrome
- Erythrokeratodermia variabilis et progressiva
- Exomphalos-macroglossia-gigantism syndrome
F
G
H
- Haber syndrome
- Hagemoser–Weinstein–Bresnick syndrome
- Hailey–Hailey disease
- Haim–Munk syndrome
- Hamanishi–Ueba–Tsuji syndrome
- Hemochromatosis type 3
- Hemoglobin H disease
- Hereditary gingival fibromatosis
- Hereditary motor and sensory neuropathy with proximal dominance
- Hereditary mucoepithelial dysplasia
- Hereditary spherocytosis 1
- Hernandez–Aguire–Negrete syndrome
- Hirschsprung nail hypoplasia dysmorphism
- Hirsutism skeletal dysplasia mental retardation
- Homozygous hypobetalipoproteinemia
- Howel–Evans syndrome
- Huriez scleroatrophic syndrome
- Hurler syndrome
- Hyde–Forster–Mccarthy–Berry syndrome
- Hydrolethalus syndrome
- Hyperinsulinism-hyperammonemia syndrome
- Hypertrichosis retinopathy dysmorphism
- Hypogonadotropic hypogonadism syndactyly
- Hypogonadotropic hypogonadism-anosmia, X linked
- Hypothyroidism postaxial polydactyly mental retardation
- Hypotrichosis mental retardation Lopes type
I
- I-cell disease
- Ichthyosis and male hypogonadism
- Ichthyosis follicularis with alopecia and photophobia syndrome
- Ichthyosis male hypogonadism
- Ichthyosis mental retardation dwarfism renal impairment
- Ichthyosis microphthalmos
- Ichthyosis prematurity syndrome
- Ichthyosis–sclerosing cholangitis syndrome
- Imaizumi–Kuroki syndrome
- Immotile cilia syndrome, due to excessively long cilia
- ICF syndrome
- Immunodeficiency–centromeric instability–facial anomalies syndrome
- Inherited disorders of trafficking
J
K
L
M
- Macrothrombocytopenia progressive deafness
- Mahvash disease
- Majewski's polydactyly syndrome
- Dilated cardiomyopathy with hypergonadotropic hypogonadism
- Marinesco–Sjögren syndrome
- Marshall syndrome
- Marshall–White syndrome
- Matsoukas–Liarikos–Giannika syndrome
- McGillivray syndrome
- McPherson–Robertson–Cammarano syndrome
- MECP2 duplication syndrome
- Megalencephalic leukoencephalopathy with subcortical cysts
- Megalocornea mental retardation syndrome
- Meleda disease
