Category:Genetic disorder stubs
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Pages in category "Genetic disorder stubs"
The following 200 pages are in this category, out of 234 total.
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A
- Abdallat–Davis–Farrage syndrome
- Abruzzo–Erickson syndrome
- Acheiropodia
- Achondrogenesis type 1B
- Acrofrontofacionasal dysostosis
- Acrofrontofacionasal dysostosis syndrome
- Acromesomelic dysplasia
- 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
- Axenfeld syndrome
B
- Barrow–Fitzsimmons syndrome
- Becker disease
- Benign hereditary chorea
- Beta thalassemia
- Bifid penis
- Bilateral renal agenesis dominant type
- Billard Toutain Maheut syndrome
- Bixler–Christian–Gorlin syndrome
- Bjornstad syndrome
- Blepharophimosis ptosis syndactyly mental retardation
- Bone fragility craniosynostosis proptosis hydrocephalus
- Borjeson syndrome
- Bourneville's disease
- Brain-lung-thyroid syndrome
C
- Camptodactyly overgrowth unusual facies
- 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
- Cerebro oculo genital syndrome
- Chediak-higashi syndrome
- Cholemia
- Chondrodysplasia punctata
- Chorioretinopathy dominant form microcephaly
- 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
- Craniometaphyseal dysplasia recessive type
- Cutis Gyrata syndrome of Beare and Stevenson
- Cutis gyratum acanthosis nigricans craniosynostosis
D
- Deafness craniofacial syndrome
- Deafness symphalangism
- Deal–Barratt–Dillon syndrome
- Desmin-related myofibrillar myopathy
- Diffuse palmoplantar keratoderma, Bothnian type
- Distal spinal muscular atrophy type 2
- Dunnigan familial partial lipodystrophy
- Dwarfism deafness retinitis pigmentosa
- Dwarfism syndesmodysplasic
E
- 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
- Englemann disease
- Epidermolysis bullosa dystrophica, dominant type
- Epidermolysis bullosa simplex with anodontia, hair
- Epidermolytic palmoplantar keratoderma Vorner type
- Epimetaphyseal dysplasia cataract
- Erythrokeratodermia variabilis et progressiva
- Exomphalos-macroglossia-gigantism syndrome
F
G
H
- Hamanishi–Ueba–Tsuji syndrome
- Hemochromatosis type 3
- Hereditary gingival fibromatosis
- Hereditary motor and sensory neuropathy with proximal dominance
- Hereditary mucoepithelial dysplasia
- Hereditary spherocytosis 1
- Hernandez–Aguire–Negrete syndrome
- Hidrotic ectodermal dysplasia type Christianson Fouris
- Hirschsprung nail hypoplasia dysmorphism
- Hirsutism skeletal dysplasia mental retardation
- Homozygous hypobetalipoproteinemia
- Huriez scleroatrophic syndrome
- Hyde–Forster–Mccarthy–Berry syndrome
- Hypertrichosis retinopathy dysmorphism
- Hypodontia dysplasia of nails
- Hypogonadotropic hypogonadism syndactyly
- Hypogonadotropic hypogonadism-anosmia, X linked
- Hypothyroidism postaxial polydactyly mental retardation
- Hypotrichosis mental retardation Lopes type
I
- Ichthyosis and male hypogonadism
- Ichthyosis male hypogonadism
- Ichthyosis mental retardation dwarfism renal impairment
- Ichthyosis microphthalmos
- Ichthyosis–sclerosing cholangitis syndrome
- Imaizumi–Kuroki syndrome
- Immotile cilia syndrome, due to excessively long cilia
- ICF syndrome
- Inherited disorders of trafficking
M
- Macrothrombocytopenia progressive deafness
- Dilated cardiomyopathy with hypergonadotropic hypogonadism
- Martsolf–Reed–Hunter syndrome
- Matsoukas–Liarikos–Giannika syndrome
- McPherson–Robertson–Cammarano syndrome
- Megalencephalic leukoencephalopathy with subcortical cysts
- Megalocornea mental retardation syndrome
- Mental retardation cataracts calcified pinnae myopathy
- Mental retardation psychosis macroorchidism
- Mental retardation X linked Brunner type
- Mental retardation X linked short stature obesity
- Metachondromatosis
- Microcephaly hypergonadotropic hypogonadism short stature
- Microcephaly micropenis convulsions
- Microcephaly with chorioretinopathy, autosomal dominant form
- Microorchidism
- MODY 5
- Mohr–Tranebjærg syndrome
- Monilethrix
- Mucolipidosis type IV
- Muscular dystrophy congenital infantile cataract hypogonadism
- Muscular dystrophy limb-girdle autosomal dominant
- Myxoma-spotty pigmentation-endocrine overactivity
O
- Oculocutaneous albinism immunodeficiency
- Oculocutaneous albinism type I
- Oculodental syndrome Rutherfurd syndrome
- Oculodentoosseous dysplasia recessive
- OFD syndrome type 8
- Orofaciodigital syndrome 2
- Osteogenesis imperfecta congenita microcephaly and cataracts
- Osteopathia striata pigmentary dermopathy white forelock
- Ota–Kawamura–Ito syndrome
- Oto-Palatal-digital syndrome
- Overgrowth syndrome type Fryer
P
- Paris-Trousseau thrombocytopenia
- Partial gigantism in context of NF
- Blepharonasofacial malformation syndrome
- Penttinen–Aula syndrome
- Pili torti nerve deafness
- Pili torti onychodysplasia
- Platyspondyly amelogenesis imperfecta
- Poikiloderma of Kindler
- Poikilodermatomyositis mental retardation
- Popliteal pterygium
- Premature aging, Okamoto type
- Progeroid syndrome, Penttinen type
- Pterygium syndrome multiple dominant type
- Pterygium syndrome X linked
- Ptosis coloboma mental retardation
- Pure hair-nail type ectodermal dysplasia
R
S
- Saccharopinuria
- Say–Barber–Miller syndrome
- Seckel syndrome 2
- Seckel's syndrome
- Seemanova syndrome type 2
- Seemanova–Lesny syndrome
- Seghers syndrome
- Senior Loken Syndrome
- Short rib-polydactyly syndrome 3
- Short stature mental retardation eye anomalies
- Singleton-Merten syndrome
- SLC35C1-CDG (CDG-IIc)
- Spastic ataxia-corneal dystrophy syndrome
- Spinal muscular atrophy with lower extremity predominance