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Ciliopathy
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Achondroplasia
Al-Raqad Syndrome
Aniridia 1
Anorexia Nervosa 1
Apraxia
Arthrochalasia Ehlers-Danlos Syndrome
Arthrogryposis, Renal Dysfunction, and Cholestasis 1
Asphyxiating Thoracic Dystrophy
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus
Baraitser-Winter Syndrome 1
Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 1
Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 11
Bardet-Biedl Syndrome 12
Bardet-Biedl Syndrome 13
Bardet-Biedl Syndrome 14
Bardet-Biedl Syndrome 15
Bardet-Biedl Syndrome 16
Bardet-Biedl Syndrome 18
Bardet-Biedl Syndrome 2
Bardet-Biedl Syndrome 6
Bardet-Biedl Syndrome 7
Bardet-Biedl Syndrome 8
Birt-Hogg-Dube Syndrome
Blood Group--Ahonen
Body Mass Index Quantitative Trait Locus 10
Body Mass Index Quantitative Trait Locus 11
Body Mass Index Quantitative Trait Locus 12
Body Mass Index Quantitative Trait Locus 14
Body Mass Index Quantitative Trait Locus 18
Body Mass Index Quantitative Trait Locus 4
Body Mass Index Quantitative Trait Locus 7
Body Mass Index Quantitative Trait Locus 8
Body Mass Index Quantitative Trait Locus 9
Caroli Disease
Cat Eye Syndrome
Cholestasis
Cleft Lip/palate
Coach Syndrome
Congenital Hepatic Fibrosis
Cranioectodermal Dysplasia 1
Craniosynostosis
Cystic Kidney Disease
Dwarfism
Ellis-Van Creveld Syndrome
Encephalocele
Hepatic Adenomas, Familial
Hepatitis
Hydrocephalus
Hydrolethalus Syndrome 1
Hypertelorism
Hyperuricemic Nephropathy, Familial Juvenile, 1
Hypoplastic Left Heart Syndrome
Isolated Growth Hormone Deficiency, Type Ia
Joubert Syndrome 1
Joubert Syndrome 17
Joubert Syndrome with Ocular Anomalies
Joubert Syndrome with Oculorenal Anomalies
Joubert Syndrome with Renal Anomalies
Kallmann Syndrome
Mckusick-Kaufman Syndrome
Meckel Syndrome, Type 1
Menkes Disease
Mevalonic Aciduria
Microcephaly
Mosaic Variegated Aneuploidy Syndrome 1
Nephronophthisis
Nephronophthisis 1
Nephronophthisis 16
Nephronophthisis 2
Nephronophthisis 3
Nephronophthisis 4
Nephronophthisis 9
Neural Tube Defects
Neural Tube Defects, Folate-Sensitive
Neuronitis
Obesity, Hyperphagia, and Developmental Delay
Orofaciodigital Syndrome I
Orofaciodigital Syndrome Vi
Osteofibrous Dysplasia
Pectus Excavatum
Polycystic Kidney Disease
Polycystic Kidney Disease 5
Polydactyly
Premature Chromatid Separation Trait
Primary Ciliary Dyskinesia
Renal Dysplasia
Renal Dysplasia Diffuse Cystic
Retinal Degeneration
Retinitis
Retinitis Pigmentosa
Roifman Syndrome
Senior-Løken Syndrome
Senior-Loken Syndrome 1
Serpin Peptidase Inhibitor, Clade a, Member 2, Pseudogene
Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 12
Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly
Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities
Situs Inversus
Three M Syndrome 1
Usher Syndrome
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