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An-Ay
Analphalipoproteinemia
Andermann Syndrome (Charlevoix Disease, Corpus Callosum Agenesis Neuronopathy)
Andersen Disease (Amylopectinosis; Brancher Deficiency; Glycogen Storage Disease, Type IV)
Anderson Disease/Syndrome (Chylomicron Retention Disease)
(Anderson) Fabry Disease (Alpha-Galactosidase A Deficiency; Angiokeratoma, Diffuse)
Androgen Insensitivity Syndrome (Androgen Receptor Deficiency, Androgen Resistance Syndrome, Dihydrotestosterone Receptor Deficiency, Male Pseudohermaphroditism Due to Androgen Insensitivity, Testicular Feminization Syndrome)
Androgen Receptor Deficiency
Androgen Resistance Syndrome
Anemia
Anencephaly
- List of Sites
- -Spina Bifida
X-Linked (Neural Tube Defects, X-Linked)
Angel Shaped Phalango Epiphyseal Dysplasia (ASPED) Syndrome
Angelman Syndrome (Happy Puppet Syndrome)
Angioedema
- Hereditary (Angioneurotic Edema, Hereditary)
Angiofollicular Ganglionic/Lymph Hyperplasia
Angiokeratoma
- Diffuse
- Corporis Diffusum
Angioma
Angioneurotic Edema
Angioosteohypertrophy Syndrome
Aniridia
- Aniridia Network
- Aniridia
- Aniridia factsheet
- Aniridia Syndrome
- Type II (Sporadic Type, Deletion 11p13)
- with Absent Patella
- with Ptosis, Mental Retardation and Obesity
- -Ambiguous Genitalia-Mental Retardation (AGR) Syndrome/Triad
- -Cerebellar Ataxia-Oligophrenia Syndrome
- -Genitourinary Abnormalities-Mental Retardation Triad
- -Mental Retardation Syndrome
- -Wilms Tumor Association/Syndrome
- -Wilms Tumor-Gonadoblastoma Syndrome
Anisospondylic Camptomicromelic Dwarfism
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ankyloblepharon with Filiforme Adnatum and Cleft Palate
Ankyloglossia with Heterochromia and Clasped Thumbs
Ankylosis/Ankylosing
- of Teeth
- Spondylarthritis (Bechterew Syndrome, Marie Strumpell Disease, Marie-Strumpell Spondylitis, Spondyloarthritis, Von Bechterew-Strumpell Syndrome)
Annular Pancreas
Anomalous Pulmonary Venous Return (APVR)
Anonychia-Ectrodactyly
Anophthalmia/Anophthalmos
- List of Sites
- -Hand-Foot Defects-Mental Retardation Syndrome
- -Plus Syndrome (Fryns Anophthalmia Syndrome)
- with Cleft Lip and Palate, and Hypothalamic Disorder
- with Cleft Palate and Micrognathia
- with Hypogonadism and Microcephaly
Anorchia, Familial
Anotia
Ansell Bywaters Elderking Syndrome (Prieur Griscelli Syndrome)
Anterior Bowing of the Legs with Dwarfism
Anterior Segment Mesenchymal/Ocular Dysgenesis
Antihypertensive Drugs Antenatal Infection
Antinolo Nieto Borrego Syndrome (Spastic Paraplegia Neuropathy Poikiloderma)
Antiphospholipid Syndrome
Antisynthetase Syndrome
Antley-Bixler Syndrome (Multisynostotic Osteodysgenesis with Long Bone Fractures, Trapezoidocephaly-Synostosis Syndrome)
Anyane Yeboa Syndrome (Cleft Lip and Palate, Corneal Opacities, Mental Retardation)
Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
Aortic Dissection with Lentiginosis
Aortic Supravalvular Stenosis
Apak Syndrome
APECED Syndrome
Apert Crouzon Disease
Apert-Like Polydactyly Syndrome (Apert Crouzon Disease, Craniosynostosis, Maroteaux Fonfria Type; Maroteaux Fonfria Syndrome)
Apert Syndrome
Aphalangia
- Hemivertebrae
- with Microcephaly
Aplasia Cutis Congenita (Congenital Scalp Defect)
Apnea
Apo A-I Deficiency
Apolipoproteine C-II Deficiency
Appelt Gerken Lenz Syndrome
Apple Peel Syndrome
Aprosencephaly Syndrome/Aprosencephaly-Stelencephaly Syndrome
Arachnodactyly (Achromacria, Olichostenomelia, Spider Fingers)
Arachnoid Cysts
ARC Syndrome
AREDYLD Syndrome
Argininemia (Arginase Deficiency, Hyperargininemia)
Argininosuccinic Aciduria (Argininosuccinase Deficiency)
Arnold Chiari (Brain) Malformation/Syndrome (ACM, Cerebellomedullary Malformation Syndrome)
Arnold Stickler Bourne Syndrome (Corneal Crystals Myopathy Neuropathy)
Arnozan[’s] Syndrome
Aromatase Deficiency
Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency (Dopa Decarboxylase [DDC] Deficiency)
Arrhinia (Nose Agenesia)
Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia
Arroyo Garcia Cimadevilla Syndrome (Anophthalmia Esophageal Atresia Cryptorchidism)
Arterial Dysplasia (Aortic Supravalvular Stenosis)
Arterial Tortuosity
Arteriohepatic Dysplasia
Arteriovenous Malformations
Arthritis
Arthrodentoosteodysplasia
Arthrogryposis
- List of Sites
- -Like Hand Anomaly and Sensorineural Deafness
- with CNS Calcifications
- with Lissencephaly
- with Pulmonary Hypoplasia
- with Whistling Face
Arthroophtalmopathy Hereditary Progressive
Arthropathy, Progressive Pseudorheumatoid, of Childhood
Articular Hypermobility Syndrome
Arts Syndrome (Fatal X-Linked Ataxia with Deafness and Loss of Vision)
Arylsulfatase A (ARSA) Deficiency
Arylsulfatase B Deficiency
Ascher Syndrome (Blepharochalasis and Double Lip)
Aspartylglycosaminuria (Aspartylglucosaminidase [AGA] Deficiency, Glycoasparaginase Deficiency)
ASPED Syndrome
Asperger Syndrome
Asphyxiating Thoracic Dystrophy (Jeune Syndrome, ATD)
Asplenia Syndrome (Splenic Agenesis Syndrome)
Assas Syndrome
Asthma
Asymmetric Septal Hypertrophy
Ataxia
- List of Sites
- with Deafness, Reardon Type
- with Tapetoretinal Degeneration
- -Deafness-Retardation Syndrome
- with Ketoaciduria
- -Oculomotor Apraxia Syndrome (Ataxia-Telangiectasia-Like Syndrome)
- -Pancytopenia Syndrome
- -Telangiectasia (Louis Bar Syndrome)
- -Telangiectasia-Like Syndrome
Atelencephalic Microcephaly Syndrome
Atelosteogenesis
- Type I (Giant Cell Chondrodysplasia, Spondylohumerofemoral Hypoplasia)
- Type II (Neonatal Osseous Dysplasia, Type I)
- Type III
Atkin Flaitz Patil Smith Syndrome (Mental Retardation, X-Linked Nonspecific, Type I)
Atransferrinemia (Hypotransferrinemia, Familial)
Atrial Cardiomyopathy with Heart Block (Cardiomyopathy, Familial, with Conduction Disturbance)
Atrial Fibrillation
Atrial Myxoma, Familial (Myxoma, Intracardiac)
Atrial Septal Defect
Atrial Tachyarrhythmia with Short PR Interval
Atrichia Mental and Growth Retardation
Atriodigital Dysplasia
Atrioventricular [A-V] Block
Attention Deficit-Hyperactivity Disorder (ADHD)
Aughton Hufnagle Syndrome (Ankyloblepharon Filiforme with Imperforate Anus)
Aughton Sloan Milad Syndrome (Nasopharyngeal Teratoma with Dandy Walker and Diaphragmatic Hernia)
Aughton Syndrome (Dextrocardia with Unusual Facies and Microphthalmia)
Aur Syndrome
Aural Atresia
- List of Sites
- with Multiple Congenital Anomalies and Mental Retardation
Autism
Autoimmunity-Immunodeficiency Syndrome
- X-Linked/of Powell (Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked; Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy)
Autoimmune Lymphoproliferative Syndrome (Canale Smith Syndrome, Fas Deficiency)
Autoimmune Polyendocrinopathy Syndrome
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
Autoimmune Polyglandular Syndrome
Autonomic Control, Congenital Failure of
Axenfeld Rieger Anomaly
- with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (Axenfeld Rieger Syndrome)
Axial Mesodermal Dysplasia Spectrum
Axial Osteomalacia
Axial Osteosclerosis
Ayazi Syndrome (Choroideremia Deafness Obesity)
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