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Congenital and Genetic Diseases and Disorders

Blue Jeans Awareness Ribbon for Congenital and Genetic Diseases

Our Custom Blue Jeans awareness ribbons and non-personalized Blue Jeans awareness ribbons support this list of Congenital and Genetic Diseases and Disorders. This list is extensive to include often under-funded, unknown diseases and disorders that need equal attention to those that receive a great deal of funding and recognition. Sometimes you will see a Congenital or Genetic Disease or Disorder listed in two places on our website, and one may be associated with a color other than the Blue Jeans awareness ribbon. This is because often times a group has designated a color for a Congenital or Genetic Disease or Disorder prior to the Blue Jeans awareness ribbon being designated for the entire category of causes.

What is a Congenital Disorder?

A Congenital Disorder is a medical condition that is present at or before birth. These conditions, also referred to as birth defects, can be acquired during the fetal stage of development or from the genetic make up of the parents.

What is a Genetic Disease?

A Genetic Disease is defined as a condition which occurs due to an abnormality in the individual's genome.

Comprehensive List of Congenital and Genetic Diseases and Disorders

1-9 - Congenital and Genetic Diseases and Disorders

==========================
11-Beta-Hydroxylase Deficiency
15q11.2 Microdeletion
15q13.3 Microdeletion Syndrome
16p11.2 Deletion Syndrome
16q24.3 Microdeletion Syndrome
17-Alpha-Hydroxylase Deficiency
17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency
17q23.1q23.2 Microdeletion Syndrome
18 Hydroxylase Deficiency
19p13.12 Microdeletion Syndrome
1q21.1 Microdeletion Syndrome
1q44 Microdeletion Syndrome
2-Methyl-3-Hydroxybutyric Aciduria
2-Methylbutyryl-CoA Dehydrogenase Deficiency
20p12.3 Microdeletion Syndrome
22q11.2 Deletion Syndrome
22q11.2 Duplication Syndrome
22q13.3 Deletion Syndrome
2q23.1 Microdeletion Syndrome
2q37 Deletion Syndrome
3 Methylcrotonyl-CoA Carboxylase 1 Deficiency
3-Alpha Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Beta-Hydroxysteroid Dehydrogenase Deficiency
3-Hydroxyisobutyric Aciduria
3-Methylcrotonyl-CoA Carboxylase Deficiency
3-Methylglutaconyl-CoA Hydratase Deficiency (AUH defect)
3M Syndrome
3MC Syndrome
3q29 Microdeletion Syndrome
46,XX Testicular Disorder of Sex Development
47 XXX Syndrome
47,XYY Syndrome
48,XXXY Syndrome
48,XYYY
49,XXXYY Syndrome
49,XXXXX Syndrome
49,XXXXY Syndrome
5-Alpha Reductase Deficiency
5-Oxoprolinase Deficiency
5q- Syndrome
5q14.3 Microdeletion Syndrome
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
7q11.23 Duplication Syndrome
8p23.1 Duplication Syndrome
8q12 Microduplication Syndrome

A - Congenital and Genetic Diseases and Disorders
==========================
Aagenaes Syndrome
Aarskog Syndrome
Abdominal Aortic Aneurysm
Abetalipoproteinemia
Ablepharon Macrostomia Syndrome
Abruzzo-Erickson Syndrome
Absence of Fingerprints Congenital Milia
Absence of Gluteal Muscle
Absence of Tibia
Absent Breasts and Nipples
Absent Patella
Acalvaria
Acardia
Acatalasemia
Accessory Deep Peroneal Nerve
Accessory Pancreas
Aceruloplasminemia
Achalasia Microcephaly Syndrome
Achard Syndrome
Acheiropody
Achondrogenesis
Achondroplasia
Acitretin Embryopathy
Ackerman Syndrome
Acral Dysostosis Dyserythropoiesis Syndrome
Acral Peeling Skin Syndrome
Acro-Pectoro-Renal Field Defect
Acrocallosal Syndrome
Acrocapitofemoral Dysplasia
Acrocephalopolydactylous Dysplasia
Acrocephalopolydactyly
Acrodermatitis Enteropathica
Acrodysostosis
Acrodysplasia Scoliosis
Acrodysplasia
Acrofacial Dysostosis
Acrofrontofacionasal Dysostosis Syndrome
Acrogeria
Acrokeratoelastoidosis of Costa
Acromegaloid Facial Appearance Syndrome
Acromegaloid Hypertrichosis Syndrome
Acromelic Frontonasal Dysostosis
Acromesomelic Dysplasia
Acromicric Dysplasia
Acroosteolysis
Acropectoral Syndrome
Acropectorovertebral Dysplasia
Acrorenal Mandibular Syndrome
ACTH-Independent Macronodular Adrenal Hyperplasia
Acute Intermittent Porphyria
Adactylia Unilateral
Adams-Oliver Syndrome
ADCY5-Related Dyskinesia
Addison's Disease
Adenine Phosphoribosyltransferase Deficiency
Adenosine Deaminase Deficiency
Adenosine Monophosphate Deaminase 1 Deficiency
Adenylosuccinase Deficiency
Adermatoglyphia
Adolescent-Onset Dystonia of Mixed Type
Adrenomyeloneuropathy
Adrenomyodystrophy
ADULT Syndrome
Adult-Onset Citrullinemia Type II
Adult-Onset Dystonia-Parkinsonism
Adult-Onset Nemaline Myopathy
Adult-Onset Vitelliform Macular Dystrophy
Advanced Sleep Phase Syndrome
Afibrinogenemia
Agammaglobulinemia
Agenesis of the Dorsal Pancreas
Agnathia-Microstomia-Synotia
Aicardi Syndrome
Aicardi-Goutieres Syndrome
Akesson Syndrome
Al Gazali Aziz Salem Syndrome
Al Gazali Khidr Prem Chandran Syndrome
Al Gazali Sabrinathan Nair Syndrome
Al Gazali Syndrome
Al-Gazali-Donnai-Mueller Syndrome
Alagille Syndrome
Alaninuria
Albinism
Albinism Deafness Syndrome
Albright's Hereditary Osteodystrophy
Alexander Disease
ALG1-CDG (CDG-Ik)
ALG11-CDG (CDG-Ip)
ALG12-CDG (CDG-Ig)
ALG13-CDG
ALG2-CDG (CDG-Ii)
ALG3-CDG (CDG-Id)
ALG6-CDG (CDG-Ic)
ALG8-CDG (CDG-Ih)
ALG9-CDG (CDG-IL)
Alkaptonuria
Allain-Babin-Demarquez Syndrome
Allan-Herndon-Dudley Syndrome
Alopecia Epilepsy Oligophrenia Syndrome of Moynahan
Alopecia Intellectual Disability Syndrome 2
Alopecia Macular Degeneration Growth Retardation
Alopecia Totalis
Alopecia Universalis
Alopecia-Intellectual Disability Syndrome
Alpers Syndrome
Alpha-1 Antitrypsin Deficiency
Alpha-Ketoglutarate Dehydrogenase Deficiency
Alpha-Mannosidosis
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
Alport Syndrome
Alström Syndrome
Alternating Hemiplegia of Childhood
Alveolar Capillary Dysplasia
Amaurosis Congenita Cone-Rod Type with Congenital Hypertrichosis
Ambras Syndrome
Amelogenesis Imperfecta
Ameloonychohypohidrotic Syndrome
Amino Aciduria
Aminoacylase 1 Deficiency
Aminolevulinate Dehydratase Deficiency Porphyria
Amish Lethal Microcephaly
Amish Nemaline Myopathy
Amniotic Band Syndrome
Amyloidosis Corneal
Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability
Amyotonia Congenita
Anal Sphincter Dysplasia
Anauxetic Dysplasia
Andermann Syndrome
Andersen-Tawil Syndrome
Anemia Due to Adenosine Triphosphatase Deficiency
Anemia Sideroblastic and Spinocerebellar Ataxia
Anencephaly
Aneurysm of Sinus of Valsalva
Angel Shaped Phalangoepiphyseal Dysplasia
Angelman Syndrome
Angioma
Aniridia
Ankyloblepharon Filiforme Adnatum Cleft Palate
Ankyloblepharon Filiforme Imperforate Anus
Ankylosing Vertebral Hyperostosis with Tylosis
Ankylosis of Teeth
Annular Pancreas
Anodontia
Anomalous Origin of Right Pulmonary Artery Familial
Anonychia
Anophthalmia Plus Syndrome
Anophthalmos with Limb Anomalies
Anorchia
Antecubital Pterygium
Anterior Segment Mesenchymal Dysgenesis
Antley Bixler Syndrome
Aortic Arch Anomaly
Aortic Coarctation
Aortopulmonary Window
Apert Syndrome
Aphalangia
Aplasia Cutis Congenita
Arachnodactyly
Arachnoid Cysts
AREDYLD
Arginase Deficiency
Argininosuccinic Aciduria
Arhinia Choanal Atresia Microphthalmia
Aromatase Deficiency
Aromatase Excess Syndrome
Aromatic L-Amino Acid Decarboxylase Deficiency
Arrhinia
Arterial Calcification of Infancy
Arterial Tortuosity Syndrome
Arthrochalasia Ehlers-Danlos Syndrome
Arthrogryposis
Arts Syndrome
Ascher Syndrome
Aspartylglycosaminuria
Asternia
Ataxia
Atelosteogenesis
Athabaskan Brainstem Dysgenesis
Atkin Syndrome
Atransferrinemia
Atresia of Small Intestine
Atrial Myxoma
Atrial Septal Defect
Atypical Rett Syndrome
Atypical Werner Syndrome
Auralcephalosyndactyly
Auriculo-Condylar Syndrome
Auriculoosteodysplasia
Ausems Wittebol-Post Hennekam Syndrome
Autism with Port-Wine Stain
Autoimmune Lymphoproliferative Syndrome
Autoimmune Polyglandular Syndrome
Autosomal Dominant Alport Syndrome
Autosomal Dominant Café au Lait Spots
Autosomal Dominant Centronuclear Myopathy
Autosomal Dominant Cerebellar Ataxia
Autosomal Dominant Charcot-Marie-Tooth Disease
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Autosomal Dominant Hyper IgE Syndrome
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease
Autosomal Dominant Medullary Cystic Kidney Disease
Autosomal Dominant Multiple Pterygium Syndrome
Autosomal Dominant Neuronal Ceroid Lipofuscinosis 4B
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Autosomal Dominant Non-Syndromic Intellectual Disability
Autosomal Dominant Optic Atrophy Plus Syndrome
Autosomal Dominant Palmoplantar Keratoderma and Congenital Alopecia
Autosomal Dominant Partial Epilepsy with Auditory Features
Autosomal Dominant Pseudohypoaldosteronism Type 1
Autosomal Dominant Spondyloepiphyseal Dysplasia Tarda
Autosomal Dominant Torsion Dystonia-4
Autosomal Recessive Alport Syndrome
Autosomal Recessive Axonal Neuropathy with Neuromyotonia
Autosomal Recessive Centronuclear Myopathy
Autosomal Recessive Charcot-Marie-Tooth Disease with Hoarseness
Autosomal Recessive Early-Onset Inflammatory Bowel Disease
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease
Autosomal Recessive Neuronal Ceroid Lipofuscinosis 4A
Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia
Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Primary Microcephaly
Autosomal Recessive Protein C Deficiency
Autosomal Recessive Pseudohypoaldosteronism Type 1
Autosomal Recessive Spastic Ataxia 4
Autosomal Recessive Spinocerebellar Ataxia 9
Axenfeld-Rieger Syndrome
Axial Mesodermal Dysplasia Spectrum
Axial Spondylometaphyseal Dysplasia
Ayazi Syndrome

B - Congenital and Genetic Diseases and Disorders
==========================
B4GALT1-CDG (CDG-IId)
Baetz-Greenwalt Syndrome
Bagatelle Cassidy Syndrome
Baller-Gerold Syndrome
Bamforth Syndrome
Bangstad Syndrome
Banki Syndrome
Bannayan-Riley-Ruvalcaba Syndrome
Bantu Siderosis
BAP1 Tumor Predisposition Syndrome
Baraitser-Winter Syndrome
Barakat Syndrome
Barber Say Syndrome
Bardet-Biedl Syndrome
Bare Lymphocyte Syndrome
Barraquer-Simons Syndrome
Barth Syndrome
Bartter Syndrome
Battaglia-Neri Syndrome
Bazex-Dupre-Christol Syndrome
Beare-Stevenson Cutis Gyrata Syndrome
Becker Muscular Dystrophy
Becker Nevus Syndrome
Beckwith-Wiedemann Syndrome
Beemer Ertbruggen Syndrome
Behr Syndrome
Benallegue Lacete Syndrome
Benign Essential Blepharospasm
Benign Familial Neonatal Epilepsy
Benign Familial Neonatal-Infantile Seizures
Benign Hereditary Chorea
Berk-Tabatznik Syndrome
Best Vitelliform Macular Dystrophy
Beta Ketothiolase Deficiency
Beta-Propeller Protein-Associated Neurodegeneration
Bethlem Myopathy
Beukes Familial Hip Dysplasia
Biemond Syndrome
Bietti Crystalline Corneoretinal Dystrophy
Bifid Nose
Bilateral Frontoparietal Polymicrogyria
Bilateral Generalized Polymicrogyria
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral Perisylvian Polymicrogyria
Bile Acid Synthesis Defect
Biliary Atresia
Biotin-Thiamine-Responsive Basal Ganglia Disease
Biotinidase Deficiency
Birk-Barel Syndrome
Birt-Hogg-Dube Syndrome
Bixler Christian Gorlin Syndrome
Bjornstad Syndrome
Blau Syndrome
Bleeding Disorder due to P2RY12 Defect
Blepharonasofacial Malformation Syndrome
Blepharophimosis
Blepharoptosis Myopia Ectopia Lentis
Bloom Syndrome
Blount Disease
Blue Cone Monochromatism
Blue Diaper Syndrome
Blue Rubber Bleb Nevus Syndrome
BOD Syndrome
Bohring-Opitz Syndrome
Bone Dysplasia
Book Syndrome
Boomerang Dysplasia
BOR-Duane Hydrocephalus Contiguous Gene Syndrome
Borjeson-Forssman-Lehmann Syndrome
Bork Stender Schmidt Syndrome
Bowen-Conradi Syndrome
Bowing of Legs
Boylan Dew Greco Syndrome
Brachial Amelia, Forebrain Defects and Facial Clefts
Brachioskeletogenital Syndrome
Brachycephalofrontonasal Dysplasia
Brachydactylous Dwarfism
Brachydactyly
Bradyopsia
Brain-Lung-Thyroid Syndrome
Branchial Arch Syndrome
Branchiooculofacial Syndrome
Branchiootic Syndrome
Branchiootorenal Syndrome
BRCA1 Hereditary Breast and Ovarian Cancer Syndrome
BRCA2 Hereditary Breast and Ovarian Cancer Syndrome
Brittle Cornea Syndrome
Brody Myopathy
Bronchogenic Cyst
Bronchopulmonary Dysplasia
Brooks Wisniewski Brown Syndrome
Bruck Syndrome
Brugada Syndrome
Bullous Dystrophy
Buschke Ollendorff Syndrome

C - Congenital and Genetic Diseases and Disorders
==========================
C Syndrome
C1q Deficiency
Cabezas Syndrome
CADASIL
Caffey Disease
Calabro Syndrome
Calloso-Genital Dysplasia
Camera Marugo Cohen Syndrome
Campomelia Cumming Type
Campomelic Dysplasia
Camptobrachydactyly
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia
Camptodactyly Syndrome
Camptomelic Syndrome
Camurati-Engelmann Disease
Canavan Disease
Candidiasis Familial Chronic Mucocutaneous
Cantu Sanchez-Corona Fragoso Syndrome
Cantu Syndrome
Cap Myopathy
Carbamoyl Phosphate Synthetase 1 Deficiency
Carbonic Anhydrase VA Deficiency
Cardiac Valvular Dysplasia
Cardiac-Valvular Ehlers-Danlos Syndrome
Cardioauditory Syndrome of Sanchez Cascos
Cardiocranial Syndrome
Cardioencephalomyopathy
Cardiofaciocutaneous Syndrome
Cardiomelic Syndrome Stratton Koehler Type
Cardiomyopathy
Cardioskeletal Syndrome Kuwaiti Type
Carney Complex
Carney Triad
Carnitine Palmitoyl Transferase 1 Deficiency
Carnitine-Acylcarnitine Translocase Deficiency
Carnosinemia
Caroli Disease
Carpenter Syndrome
Carpotarsal Osteochondromatosis
Cartilage-Hair Hypoplasia
Cat Eye Syndrome
Cataracts
Cataract Microcornea Syndrome
Catatrichy
Catecholaminergic Polymorphic Ventricular Tachycardia
Catel Manzke Syndrome
Caudal Appendage Deafness
Caudal Regression Syndrome
Central Core Disease
Cerebellar Ataxia
Cerebellar Hypoplasia
Cerebelloparenchymal Disorder 3
Cerebellum Agenesis Hydrocephaly
Cerebral Autosomal Recessive Arteriopathy
Cerebral Cavernous Malformation - Not a rare disease
Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome
Cerebral Folate Deficiency
Cerebral Gigantism Jaw Cysts
Cerebro-Costo-Mandibular Syndrome
Cerebro-Facio-Articular Syndrome
Cerebro-Oculo-Facio-Skeletal Syndrome
Cerebrocostomandibular-Like Syndrome
Cerebrotendinous Xanthomatosis
Ceroid Lipofuscinosis Neuronal 1
Cerulean Cataract
Cervical Hypertrichosis Peripheral Neuropathy
Chanarin-Dorfman Syndrome
Char Syndrome
Charcot-Marie-Tooth Disease CHARGE Syndrome
Charlie M Syndrome
Chediak-Higashi Syndrome
Cherubism
Chiari Malformation
CHILD Syndrome
Childhood Apraxia of Speech
Childhood Hypophosphatasia
Childhood-Onset Cerebral X-Linked Adrenoleukodystrophy
Childhood-Onset Nemaline Myopathy
Chitayat Meunier Hodgkinson Syndrome
Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome
Cholesteryl Ester Storage Disease
Chondrocalcinosis 2
Chondrodysplasia
Chordoma
Chorea-Acanthocytosis
Choroidal Dystrophy Central Areolar
Choroideremia
Christianson Syndrome
Chromosome 10p Deletion
Chromosome 10p Duplication
Chromosome 10q Deletion
Chromosome 12p Duplication
Chromosome 13q Deletion
Chromosome 15, Trisomy mMsaicism
Chromosome 15q Deletion
Chromosome 16 Trisomy
Chromosome 16p13.3 Deletion Syndrome
Chromosome 16p13.3 Duplication
Chromosome 17p Duplication
Chromosome 17p13.1 Deletion Syndrome
Chromosome 17q Deletion
Chromosome 17q11.2 Deletion Syndrome
Chromosome 18p Deletion
Chromosome 18p Duplication
Chromosome 18p Tetrasomy
Chromosome 19q13.11 Deletion Syndrome
Chromosome 1p36 Deletion Syndrome
Chromosome 1q21.1 Duplication Syndrome
Chromosome 1q41-q42 Deletion Syndrome
Chromosome 21, Uniparental Disomy
Chromosome 21q Deletion
Chromosome 2q24 Microdeletion Syndrome
Chromosome 3p- Syndrome
Chromosome 3q29 Microduplication Syndrome
Chromosome 4p Duplication
Chromosome 5p Duplication
Chromosome 6q25 Microdeletion Syndrome
Chromosome 8p23.1 Deletion
Chromosome 8q Duplication
Chromosome 9p Deletion
Chromosome Xq28 Deletion Syndrome
Chronic Atypical Neutrophilic Dermatosis
Chronic Granulomatous Disease
Chronic Infantile Neurological Cutaneous Articular Syndrome
Chronic Mucocutaneous Candidiasis (CMC) - Not a rare disease
Chronic Progressive External Ophthalmoplegia
Chudley Rozdilsky Syndrome
Chylomicron Retention Disease
Chylothorax
Chylous Ascites
Clark-Baraitser Syndrome
Clasped Thumbs
Classical-Like Ehlers-Danlos Syndrome
Cleft Hand Absent Tibia
Cleft Palate
Cleidocranial Dysplasia
Cleidorhizomelic Syndrome
Clouston Syndrome
CLOVES Syndrome
COACH Syndrome
COASY Protein-Associated Neurodegeneration
Coats Disease
Cobb Syndrome
Cockayne Syndrome
CODAS Syndrome
Coffin-Lowry Syndrome
Coffin-Siris Syndrome
COG1-CDG (CDG-IIg)
COG4-CDG (CDG-IIj)
COG5-CDG (CDG-IIi)
COG7-CDG (CDG-IIe)
COG8-CDG (CDG-IIh)
Cogan-Reese Syndrome
Cohen Syndrome
Cole Carpenter Syndrome
Collins Pope Syndrome
Coloboma of Alar-Nasal Cartilages with Telecanthus
Coloboma of Macula
Colpocephaly
Combined Oxidative Phosphorylation Deficiency 16
Combined Pituitary Hormone Deficiencies
Common Variable Immunodeficiency
Complement Component 2 Deficiency
Complete Androgen Insensitivity Syndrome
Condensing Osteitis of the Clavicle
Conductive Deafness with Malformed External Ear
Cone Dystrophy
Cone-Rod Dystrophy
Congenital Absence of the Sternocleidomastoid Muscle
Congenital Adrenal Hyperplasia Due to Cytochrome P450 Oxidoreductase Deficiency
Congenital Amegakaryocytic Thrombocytopenia
Congenital Analbuminemia
Congenital Anosmia
Congenital Bilateral Absence of the Vas Deferens
Congenital Bile Acid Synthesis Defect
Congenital Central Hypoventilation Syndrome
Congenital Chloride Diarrhea
Congenital Contractural Arachnodactyly
Congenital Cytomegalovirus
Congenital Deafness
Congenital Diaphragmatic Hernia
Congenital Dyserythropoietic Anemia
Congenital Ectodermal Dysplasia
Congenital Erythropoietic Porphyria
Congenital Extrahepatic Portosystemic Shunt
Congenital Fiber Type Disproportion
Congenital Fibrosis of Extraocular Muscles
Congenital Generalized Lipodystrophy
Congenital Heart Block
Congenital Insensitivity to Pain
Congenital Intrauterine Infection-Like Syndrome
Congenital Lactase Deficiency
Congenital Laryngeal Palsy
Congenital Lipoid Adrenal Hyperplasia
Congenital Lobar Emphysema
Congenital Mirror Movement Disorder
Congenital Muscular Dystrophy
Congenital Myasthenic Syndrome
Congenital Nonprogressive Myopathy
Congenital Primary Aphakia
Congenital Pseudoarthrosis
Congenital Pulmonary Alveolar Proteinosis
Congenital Pulmonary Lymphangiectasia
Congenital Rubella
Congenital Sucrase-Isomaltase Deficiency
Congenital Toxoplasmosis - Not a rare disease
Congenital Tracheal Stenosis
Congenital Tracheomalacia
Congenital Varicella Syndrome
Congenital Vertical Talus
Congenitally Corrected Transposition of the Great Arteries
Convulsions, Benign Familial Infantile
Copper Deficiency
Cor Triatriatum Dexter
Cor Triatriatum Sinister
Corneal Dystrophy
Corneal Endothelial Dystrophy
Corneal Hypesthesia
Cornelia de Lange Syndrome
Corneodermatoosseous Syndrome
Corpus Callosum Agenesis Double Urinary Collecting
Cortical Defects Wormian Bones and Dentinogenesis Imperfecta
Cortical Dysgenesis
Corticobasal Degeneration
Corticosteroid-Binding Blobulin Deficiency
Costello Syndrome
Cousin Syndrome
Cowden Syndrome
Crandall Syndrome
Crane-Heise Syndrome
Craniodiaphyseal Dysplasia
Cranioectodermal Dysplasia
Craniofacial Deafness Hand Syndrome
Craniofacial Dysostosis
Craniofacial Dyssynostosis
Craniofrontonasal Dysplasia
Craniometaphyseal Dysplasia
Craniopharyngioma
Craniorachischisis
Craniosynostosis
Craniotelencephalic Dysplasia
Cri du Chat Syndrome
Crigler Najjar Syndrome
Crisponi Syndrome
Crome Syndrome
Cronkhite-Canada Disease
Crouzon Syndrome
Crumpled Helices and Small Mouth
Cryptomicrotia Brachydactyly Syndrome
Cryptophthalmos
Curly Hair-Acral Keratoderma-Caries Syndrome
Currarino Triad
Curry Jones Syndrome
Cutis Laxa
Cutis Marmorata Telangiectatica Congenita
Cyclic Neutropenia
Cylindrical Spirals Myopathy
Cyprus Facial Neuromusculoskeletal Syndrome
Cystic Fibrosis
Cystic Hygroma
Cystic Medial Necrosis of Aorta
Cystinosis
Czech Dysplasia

D - Congenital and Genetic Diseases and Disorders
==========================
D Ercole Syndrome
D-2-Hydroxyglutaric Aciduria
D-Bifunctional Protein Deficiency
D-Glycericacidemia
Daentl Towsend Siegel Syndrome
Dahlberg Borer Newcomer Syndrome
Daish Hardman Lamont Syndrome
Dandy-Walker Complex
Daneman Davy Mancer Syndrome
Danon Disease
Darier Disease
Dauwerse-Peters Syndrome
Davenport Donlan Syndrome
DCMA Syndrome
DDOST-CDG (CDG-Ir)
De Barsy Syndrome
De Sanctis-Cacchione Syndrome
Deafness
Deafness-Infertility Syndrome
Deafness-Lymphedema-Leukemia Syndrome
Deficiency of Interleukin-1 Receptor Antagonist
Degos 'En Cocarde' Erythrokeratoderma
Degos Disease
Dehydrated Hereditary Stomatocytosis
Delayed Membranous Cranial Ossification
Dementia Familial British
Dense Deposit Disease
Dentatorubral-Pallidoluysian Atrophy
Dentin Dysplasia
Dentinogenesis Imperfecta
Denys-Drash Syndrome
Dermatofibrosarcoma Protuberans
Dermatoosteolysis
Dermatopathia Pigmentosa Reticularis
Dermatosparaxis Ehlers-Danlos Syndrome
Dermochondrocorneal Dystrophy of François
Dermoodontodysplasia
Desbuquois Syndrome
Desmoid Tumor
Desmosterolosis
Devriendt Syndrome
Dextrocardia
DFNB1
Diabetes Insipidus Nephrogenic Mental Retardation and Intracerebral Calcification
Diamond-Blackfan Anemia
Diaphyseal Medullary Stenosis
Diastrophic Dysplasia
Dicarboxylic Aminoaciduria
Dihydrolipoamide Dehydrogenase Deficiency
Dihydropteridine Reductase Deficiency
Dihydropyrimidinase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency
Dilated Cardiomyopathy
Diploid-Triploid Mosaicism
Disseminated Superficial Actinic Porokeratosis
Distal Arthrogryposis
Distal Myopathy with Vocal Cord Weakness
DK Phocomelia Syndrome
DOLK-CDG (CDG-Im)
Donnai-Barrow Syndrome
Dopa-Responsive Dystonia
Dopamine Beta Hydroxylase Deficiency
Double Inferior Vena Cava - Not a rare disease
Dowling-Degos Disease
DPAGT1-CDG (CDG-Ij)
DPM1-CDG (CDG-Ie)
DPM2-CDG
DPM3-CDG (CDG-Io)
Drachtman Weinblatt Sitarz Syndrome
Dravet Syndrome
Duane Syndrome
Duane-Radial Ray Syndrome
Dubin-Johnson Syndrome
Dubowitz Syndrome
Duchenne Muscular Dystrophy
Duodenal Atresia
Duplication of Urethra
Dwarfism - Not a rare disease
Dyggve-Melchior-Clausen Syndrome
Dykes Markes Harper Syndrome
Dyschondrosteosis Nephritis
Dyschromatosis Symmetrica Hereditaria 1
Dysequilibrium Syndrome
Dysfibrinogenemia
Dyskeratosis Congenita
Dysosteosclerosis
Dysplasia Epiphysealis Hemimelica
Dyssegmental Dysplasia
Dystelephalangy
Dystonia 16
Dystonia 2, Torsion, Autosomal Recessive

E - Congenital and Genetic Diseases and Disorders
==========================
Early Infantile Epileptic Encephalopathy
Early-Onset Anterior Polar Cataract
Early-Onset Generalized Dystonia
Early-Onset Zonular Cataract
Early-Onset, Autosomal Dominant Alzheimer Disease
Ebstein's Anomaly
Ectodermal Dysplasia
Ectropion Inferior Cleft Lip and/or Palate
EEC Syndrome
EEM Syndrome
Ehlers-Danlos Syndrome
Eisenmenger Syndrome
Elastosis Perforans Serpiginosa
Ellis Yale Winter Syndrome
Ellis-Van Creveld Syndrome
Emanuel Syndrome
Emery-Dreifuss Muscular Dystrophy
Encephalocele
Encephalocraniocutaneous Lipomatosis
Encephalomyopathy
Encephalopathy
Epidermodysplasia Verruciformis
Epidermolysa Bullosa
Epidermolytic Ichthyosis
Epidermolytic Palmoplantar Keratoderma
Epilepsy
Epiphyseal Dysplasia
Ermine Phenotype
Erythroderma Lethal Congenital
Erythromelalgia
Erythropoietic Protoporphyria
Erythropoietic Uroporphyria
Esophageal Atresia
Ethylmalonic Encephalopathy
Eunuchoidism Familial Hypogonadotropic
Exstrophy of the Bladder

F - Congenital and Genetic Diseases and Disorders
==========================
Fabry Disease
FACES Syndrome
Facial Ectodermal Dysplasia
Facial Onset Sensory and Motor Neuronopathy
Facio Thoraco Genital Syndrome
Faciocardiorenal Syndrome
Facioscapulohumeral Muscular Dystrophy
Factor V Deficiency
Factor VII Deficiency
Factor X Deficiency
Factor XI Deficiency
Factor XII Deficiency
Factor XIII Deficiency
Fallot Complex
Familial Amyloidosis
Familial Atrial Fibrillation
Familial Atypical Multiple Mole Melanoma Syndrome - Not a rare disease
Familial Avascular Necrosis of the Femoral Head
Familial Bilateral Striatal Necrosis
Familial Breast Cancer - Not a rare disease
Familial Caudal Dysgenesis
Familial Cold Autoinflammatory Syndrome
Familial Congenital Palsy of Trochlear Nerve
Familial Cutaneous Collagenoma
Familial Cylindromatosis
Familial Dilated Cardiomyopathy
Familial Dupuytren Contracture - Not a rare disease
Familial Dysautonomia
Familial Encephalopathy with Neuroserpin Inclusion Bodies
Familial Erythrocytosis, 1
Familial Exudative Vitreoretinopathy
Familial Glucocorticoid Deficiency
Familial HDL Deficiency
Familial Hemiplegic Migraine
Familial Hyperaldosteronism
Familial Hyperinsulinism
Familial Hyperthyroidism
Familial Hypocalciuric Hypercalcemia
Familial Joint Instability Syndrome
Familial Juvenile Hyperuricaemic Nephropathy
Familial LCAT Deficiency
Familial Lipoprotein Lipase Deficiency
Familial Mediterranean Fever
Familial Multiple Lipomatosis
Familial Osteochondritis Dissecans
Familial Pancreatic Cancer
Familial Partial Lipodystrophy
Familial Platelet Disorder
Familial Porencephaly
Familial Progressive Cardiac Conduction Defect
Familial Prostate Cancer
Familial Thoracic Aortic Aneurysm and Dissection
Familial Thyroglossal Duct Cyst
Familial Visceral Myopathy
Fanconi Anemia
Fanconi Bickel Syndrome
Farber's Disease
Fatal Familial Insomnia
Fatty Acid Hydroxylase-Associated Neurodegeneration
Faye-Petersen-Ward-Carey Syndrome
Feigenbaum Bergeron Richardson Syndrome
Feingold Syndrome
Femoral Facial Syndrome
Femur Bifid
Femur Fibula Ulna Syndrome
Fertile Eunuch Syndrome
Fetal Akinesia Deformation Sequence
Fetal Aminopterin Syndrome
Fetal Cystic Hygroma
Fetal Hydantoin Syndrome
Fetal Methylmercury Syndrome
Fetal Retinoid Syndrome
Fetal Thalidomide Syndrome
Fetal Valproate Syndrome
FG Syndrome
Fibro-Adipose Vascular Anomaly
Fibrochondrogenesis
Fibrodysplasia Ossificans Progressiva
Fibrous Dysplasia
Fibular Aplasia Ectrodactyly
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
Fibular Hypoplasia and Complex Brachydactyly
Filippi Syndrome
Fine-Lubinsky Syndrome
Fingerprint Body Myopathy
Fish-Eye Disease
Fitzsimmons Syndrome
Fitzsimmons Walson Mellor Syndrome
Fitzsimmons-Guilbert Syndrome
Floating-Harbor Syndrome
Florid Cemento-Osseous Dysplasia
Flynn Aird Syndrome
Focal Cortical Dysplasia of Taylor
Focal Dermal Hypoplasia
Focal Facial Dermal Dysplasia
Focal Segmental Glomerulosclerosis
Follicle-Stimulating Hormone Deficiency
Fountain Syndrome
FOXG1 Syndrome
Fragile X Syndrome
Fragile XE Syndrome
Frank Ter Haar Syndrome
Fraser Syndrome
Frasier Syndrome
Free Sialic Acid Storage Disease
Freeman Sheldon Syndrome
Frias Syndrome
Friedreich Ataxia
Frints De Smet Fabry Fryns Syndrome
Frontofacionasal Dysplasia
Frontometaphyseal Dysplasia
Frontonasal Dysplasia
Frontorhiny
Frontotemporal Dementia
Froster-Huch Syndrome
Fructose-1,6-Bisphosphatase Deficiency
Fryns Hofkens Fabry Syndrome
Fryns Syndrome
Fuchs Endothelial Corneal Dystrophy - Not a rare disease
Fucosidosis
Fuhrmann Syndrome
Fukuyama Type Muscular Dystrophy
Fumarase Deficiency
Fused Mandibular Incisors

G - Congenital and Genetic Diseases and Disorders
==========================
Galactokinase Deficiency
Galactosemia
Galactosialidosis
Galloway-Mowat Syndrome
Game Friedman Paradice Syndrome
Gamma Aminobutyric Acid Transaminase Deficiency
Gamma-Cystathionase Deficiency
GAPO Syndrome
Gardner Syndrome
Garret Tripp Syndrome
Gastrocutaneous Syndrome
Gastrointestinal Stromal Tumors
Gastroschisis
GATAD2B-Associated Neurodevelopmental Disorder
Gaucher Disease
Gay Feinmesser Cohen Syndrome
Geleophysic Dwarfism
Gemignani Syndrome
Generalized Pustular Psoriasis
Genito Palato Cardiac Syndrome
Genitopatellar Syndrome
Genoa Syndrome
Genochondromatosis
Genu Valgum
Genuine Diffuse Phlebectasia
Geroderma Osteodysplastica
Gerstmann-Straussler-Scheinker Disease
Gestational Trophoblastic Tumor
Ghosal Hematodiaphyseal Dysplasia Syndrome
Ghose Sachdev Kumar Syndrome
Giant Axonal Neuropathy
Giant Congenital Nevus
Giant Platelet Syndrome
Gillespie Syndrome
Gingival Fibromatosis
Gitelman Syndrome
Glanzmann Thrombasthenia
Glass-Chapman-Hockley Syndrome
Glaucoma Sleep Apnea
Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short Stature Syndrome
Globozoospermia
Glomerulonephritis with Sparse Hair and Telangiectases
Glomerulopathy with Fibronectin Deposits
Glucocorticoid-Remediable Aldosteronism
Glucose Transporter Type 1 Deficiency Syndrome
Glucose-Galactose Malabsorption
Glutamate Formiminotransferase Deficiency
Glutamine Deficiency
Glutaric Acidemia
Glutathionuria
Glycine N-Methyltransferase Deficiency
Glycogen Storage Disease
GM1 Gangliosidosis
GM3 Synthase Deficiency
Goldberg-Shprintzen Megacolon Syndrome
Goldenhar Disease
Goldmann-Favre Syndrome
Gomez Lopez Hernandez Syndrome
Goodman Syndrome
Gordon Syndrome
Gorham's Disease
Gorlin Bushkell Jensen Syndrome
Gorlin Chaudhry Moss Syndrome
GOSR2-Related Progressive Myoclonus Ataxia
Gracile Bone Dysplasia
GRACILE Syndrome
Graham Boyle Troxell Syndrome
Graham-Cox Syndrome
Graham-Little-Piccardi-Lassueur Syndrome
Grant Syndrome
Gray Platelet Syndrome
Greenberg Dysplasia
Greig Cephalopolysyndactyly Syndrome
Griscelli Syndrome
Groll Hirschowitz Syndrome
Growth Hormone Insensitivity with Immunodeficiency
Grubben de Cock Borghgraef Syndrome
GTP Cyclohydrolase I Deficiency
Guanidinoacetate Methyltransferase Deficiency
Gurrieri Syndrome
Gyrate Atrophy of Choroid and Retina

H - Congenital and Genetic Diseases and Disorders
==========================
Hailey-Hailey Disease
Haim-Munk Syndrome
Hair Defect with Photosensitivity and Mental Retardation
Hairy Elbows
Halal Syndrome
Hall Riggs Mental Retardation Syndrome
Hallermann-Streiff Syndrome
Hamanishi Ueba Tsuji Syndrome
Hand and Foot Deformity
Hand Foot Uterus Syndrome
Hanhart Syndrome
Hard Skin Syndrome
Hardikar Syndrome
Harding Ataxia
Harlequin Ichthyosis
Harlequin Syndrome
Harrod Doman Keele Syndrome
Hartnup Disease
Hawkinsinuria
Hay-Wells Syndrome
Heart Defect, Tongue Hamartoma and Polysyndactyly
Heart-Hand Syndrome
HEC Syndrome
Hemangioma Thrombocytopenia Syndrome
Hemangiomatosis
Hemi 3 Syndrome
Hemifacial Hyperplasia Strabismus
Hemifacial Microsomia
Hemimegalencephaly
Hemiplegic Migraine
Hemochromatosis
Hemoglobin C Disease
Hemoglobin E Disease
Hemoglobin SC Disease
Hemoglobin SE Disease - Not a rare disease
Hemophagocytic Lymphohistiocytosis
Hennekam Syndrome
Hepatic Lipase Deficiency
Hepatic Venoocclusive Disease
Hepatoerythropoietic Porphyria
Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps Syndrome
Hereditary Antithrombin Deficiency
Hereditary Congenital Facial Paresis
Hereditary Coproporphyria
Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Leukoencephalopathy
Hereditary Elliptocytosis
Hereditary Endotheliopathy, Retinopathy, Nephropathy, and Stroke
Hereditary Fibrosing Poikiloderma
Hereditary Folate Malabsorption
Hereditary Fructose Intolerance
Hereditary Geniospasm
Hereditary Hemorrhagic Telangiectasia
Hereditary Hyperekplexia
Hereditary Koilonychia
Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Lymphedema Type II
Hereditary Methemoglobinemia
Hereditary Motor and Sensory Neuropathy Type 5
Hereditary Mucoepithelial Dysplasia
Hereditary Multiple Osteochondromas
Hereditary Neuralgic Amyotrophy
Hereditary Neuropathy with Liability to Pressure Palsy
Hereditary Pancreatitis
Hereditary Paraganglioma-Pheochromocytoma
Hereditary Proximal Myopathy with Early Respiratory Failure
Hereditary Sensorimotor Neuropathy with Hyperelastic Skin
Hereditary Sensory and Autonomic Neuropathy
Hereditary Sensory Neuropathy Type 1
Hereditary Spherocytosis
Hereditary Vascular Retinopathy
Hermansky-Pudlak Syndrome
Herpes Simplex Encephalitis
Heterochromia Iridis - Not a rare disease
Heterotaxy
HIBCH Deficiency
High Molecular Weight Kininogen Deficiency
Hirschsprung's Disease
His Bundle Tachycardia
Histidinemia
Histiocytosis-Lymphadenopathy Plus Syndrome
HMG CoA Lyase Deficiency
Holocarboxylase Synthetase Deficiency
Holoprosencephaly, Recurrent Infections, and Monocytosis
Holt-Oram Syndrome
Holzgreve Syndrome
Homocarnosinosis
Homocystinuria
Horizontal Gaze Palsy with Progressive Scoliosis
Hoyeraal Hreidarsson Syndrome
Hunter Carpenter Macdonald Syndrome
Hunter Rudd Hoffmann Syndrome
Hunter-McAlpine Syndrome
Huntington Disease
Hurler Syndrome
Hurler–Scheie Syndrome
Hutterite Cerebroosteonephrodysplasia Syndrome
Hyaline Fibromatosis Syndrome
Hyde Forster Mccarthy Berry Syndrome
Hydranencephaly
Hydrocephalus
Hydroxykynureninuria
Hyper-IgD Syndrome
Hyperbetaalaninemia
Hypercoagulability Syndrome Due to Glycosylphosphatidylinositol Deficiency
Hyperferritinemia Cataract Syndrome
Hyperinsulinism Due to Glucokinase Deficiency
Hyperinsulinism-Hyperammonemia Syndrome
Hyperkalemic Periodic Paralysis
Hyperkeratosis Lenticularis Perstans
Hyperlipidemia Type 3
Hyperlipoproteinemia Type 5
Hyperlysinemia
Hypermethioninemia Due to S-adenosylhomocysteine Hydrolase Deficiency
Hypermobile Ehlers-Danlos Syndrome
Hyperostosis Corticalis Generalisata
Hyperparathyroidism-Jaw Tumor Syndrome
Hyperphenylalaninemia
Hyperprolinemia
Hypertelorism and Tetralogy of Fallot
Hyperthermia Induced Defects
Hypertrichosis Lanuginosa Congenita
Hypertrophic Neuropathy of Dejerine-Sottas
Hypertryptophanemia
Hypocalcemia
Hypochondroplasia
Hypofibrinogenemia
Hypohidrotic Ectodermal Dysplasia
Hypokalemic Periodic Paralysis
Hypomandibular Faciocranial Dysostosis
Hypomelanosis of Ito
Hypomyelination and Congenital Cataract
Hypomyelination with Atrophy of Basal Ganglia and Cerebellum
Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome
Hypophosphatemic Rickets
Hypoplastic Left Heart Syndrome
Hypospadias Familial
Hypospadias Mental Retardation
Hypotelorism Cleft Palate Hypospadias
Hypotonia
Hypotrichosis Simplex
Hypotrichosis-Lymphedema-Telangiectasia Syndrome

I - Congenital and Genetic Diseases and Disorders
==========================
I Cell Disease
IBIDS Syndrome
ICF Syndrome
Ichthyosis
Idiopathic Basal Ganglia Calcification Childhood-Onset
Idiopathic CD4 Positive T-Lymphocytopenia
Iida Kannari Syndrome
IL12RB1 Deficiency
IMAGe Syndrome
Imerslund-Grasbeck Syndrome
Iminoglycinuria
Immune Defect Due to Absence of Thymus
Immunodeficiency with Hyper IgM
Immunodysregulation
Imperforate Oropharynx-Costo Vetebral Anomalies
Inclusion Body Myopathy
Incontinentia Pigmenti
Infantile Axonal Neuropathy
Infantile Cerebellar Retinal Degeneration
Infantile Convulsions and Paroxysmal Choreoathetosis
Infantile Histiocytoid Cardiomyopathy
Infantile Liver Failure Syndrome 1
Infantile Myofibromatosis
Infantile Onset Spinocerebellar Ataxia
Infantile Parkinsonism-Dystonia
Infantile Spasms Broad Thumbs
Infantile-Onset Ascending Hereditary Spastic Paralysis
Infection-Induced Acute Encephalopathy 3
Iniencephaly
Insulin-Like Growth Factor I Resistance
Insulin-Like Growth Factor I Deficiency
Insulin-Resistance Type B
Intellectual Deficit
Intellectual Disability
Intermediate Congenital Nemaline Myopathy
Intermediate Severe Salla Disease
Internal Carotid Agenesis
Intestinal Atresia Multiple
Intrauterine Growth Retardation
Intrinsic Factor Deficiency
IRAK-4 Deficiency
Iridogoniodysgenesis and Skeletal Anomalies
Iris Hypoplasia and Glaucoma
Iron-Refractory Iron Deficiency Anemia
Irons Bhan Syndrome
IRVAN Syndrome
Isobutyryl-CoA Dehydrogenase Deficiency
Isodicentric Chromosome 15 Syndrome
Isolated ACTH Deficiency
Isolated Anterior Cervical Hypertrichosis
Isolated Congenital Megalocornea
Isolated Ectopia Lentis
Isolated Growth Hormone Deficiency
Isotretinoin Embryopathy-Like Syndrome
Isovaleric Acidemia
Ivemark Syndrome
IVIC Syndrome

J - Congenital and Genetic Diseases and Disorders
==========================
Jackson-Weiss Syndrome
Jacobsen Syndrome
Jansen Type Metaphyseal Chondrodysplasia
Jejunal Atresia
Jervell Lange-Nielsen Syndrome
Jeune Syndrome
Johanson-Blizzard Syndrome
Johnson Munson Syndrome
Johnson Neuroectodermal Syndrome
Johnston Aarons Schelley Syndrome
Jones Syndrome
Joubert Syndrome
Juberg Marsidi Syndrome
Juberg-Hayward Syndrome
Junctional Epidermolysis Bullosa, Herlitz Type
Junctional Epidermolysis Bullosa, Non-Herlitz Type
Juvenile Amyotrophic Lateral Sclerosis
Juvenile Osteoporosis
Juvenile Paget Disease
Juvenile Polyposis Syndrome
Juvenile Primary Lateral Sclerosis
Juvenile Retinoschisis
Juvenile-Onset Dystonia

K - Congenital and Genetic Diseases and Disorders
==========================
Kabuki Syndrome
Kallmann Syndrome
Kanzaki Disease
Kaplan Plauchu Fitch Syndrome
Kaposi Sarcoma
Kaposiform Hemangioendothelioma
Kapur Toriello Syndrome
Karak Syndrome
Kartagener Syndrome
Kaufman Oculocerebrofacial Syndrome
KBG Syndrome
KCNQ2-Related Disorders
Kearns-Sayre Syndrome
Kennedy Disease
Kenny-Caffey Syndrome
Keratitis
Keratoderma Palmoplantar Deafness
Keratoderma Palmoplantar Spastic Paralysis
Keratoderma Palmoplantaris Transgrediens
Keratolytic Winter Erythema
Keratosis Follicularis Dwarfism and Cerebral Atrophy
Keratosis Follicularis Spinulosa Decalvans
Kernicterus
Keutel Syndrome
KID Syndrome
Kindler Syndrome
King Denborough Syndrome
Kleeblattschaedel Syndrome
Kleine Levin Syndrome
Kleiner Holmes Syndrome
Klinefelter Syndrome - Not a rare disease
Klippel Feil Syndrome
Klippel-Trenaunay Syndrome
Kniest Dysplasia
Kniest-Like Dysplasia
Knobloch Syndrome
Knuckle Pads, Leuconychia and Sensorineural Deafness
Kohlschutter Tonz Syndrome
Koolen de Vries Syndrome
Koone Rizzo Elias Syndrome
Kosztolanyi Syndrome
Kotzot-Richter Syndrome
Kowarski Syndrome
Kozlowski Warren Fisher Syndrome
Kuskokwim Disease
Kyphomelic Dysplasia
Kyphoscoliotic Ehlers-Danlos Syndrome

L - Congenital and Genetic Diseases and Disorders
==========================
L-2-Hydroxyglutaric Aciduria
L-Arginine: Glycine Amidinotransferase Deficiency
Laband Syndrome
Lachiewicz Sibley Syndrome
Lacrimo-Auriculo-Dento-Digital Syndrome
Lafora Disease
Laing Distal Myopathy
Lambdoid Synostosis
Lambert Syndrome
Lamellar Ichthyosis
Landau-Kleffner Syndrome
Langer Mesomelic Dysplasia
Laron Syndrome
Larsen Syndrome
Larsen-Like Syndrome
Laryngomalacia
Laryngoonychocutaneous Syndrome
Larynx, Congenital Partial Atresia
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Late-Onset Retinal Degeneration
Lateral Meningocele Syndrome
Lateral Semicircular Canal Malformation
Lathosterolosis
Lattice Corneal Dystrophy
Laurence-Moon Syndrome
Laurin-Sandrow Syndrome
LCHAD Deficiency
Le Marec Bracq Picaud Syndrome
Leber Congenital Amaurosis
Leber Hereditary Optic Neuropathy
Left Ventricular Noncompaction
Left-Sided Gallbladder
Legg-Calve-Perthes Disease
Legius Syndrome
Leigh Syndrome
Leisti Hollister Rimoin Syndrome
Lelis Syndrome
Lennox-Gastaut Syndrome
Lenz Majewski Hyperostotic Dwarfism
Lenz Microphthalmia Syndrome
LEOPARD Syndrome
Leprechaunism
Leri Pleonosteosis
Leri Weill Dyschondrosteosis
Lesch Nyhan Syndrome
Lethal Chondrodysplasia
Lethal Congenital Contracture Syndrome
Lethal Short Limb Skeletal Dysplasia Al Gazali Type
Leukocyte Adhesion Deficiency Type 1
Leukodystrophy
Leukoencephalopathy
Levic Stefanovic Nikolic Syndrome
Levy-Yeboa Syndrome
Lhermitte-Duclos Disease
Li-Fraumeni Syndrome
Lichtenstein Syndrome
Liddle Syndrome
Ligneous Conjunctivitis
Limb Deficiencies Distal with Micrognathia
Limb-Body Wall Complex
Limb-Girdle Muscular Dystrophy
Limb-Mammary Syndrome
Lin-Gettig Syndrome
Linear and Whorled Nevoid Hypermelanosis
Linear Nevus Sebaceous Syndrome
LIPE-Related Familial Partial Lipodystrophy
Lipedema - Not a rare disease
Lipodystrophy
Lipoic Acid Synthetase Deficiency
Lipoid Proteinosis of Urbach and Wiethe
Lissencephaly
Loeys-Dietz Syndrome
Long QT Syndrome
Loose Anagen Hair Syndrome
Lopes Gorlin Syndrome
Lowe Oculocerebrorenal Syndrome
Lowry Maclean Syndrome
Lowry Wood Syndrome
Lubinsky Syndrome
Lucey-Driscoll Syndrome
Lujan Syndrome
Lumbar Malsegmentation Short Stature
Lung Agenesis
Lymphangioleiomyomatosis
Lymphedema and Cerebral Arteriovenous Anomaly
Lymphedema
Lynch Syndrome - Not a rare disease
Lysinuric Protein Intolerance

M - Congenital and Genetic Diseases and Disorders
==========================
Mac Dermot Winter Syndrome
Macrocephaly Mesodermal Hamartoma Spectrum
Macrocephaly
Macrodactyly of the Foot
Macrodactyly of the Hand
Macroepiphyseal Dysplasia
Macroglossia Macrosomia
Macrozoospermia
Macular Dystrophy
Macules Hereditary Congenital Hypopigmented and Hyperpigmented
Madokoro Ohdo Sonoda Syndrome
Maffucci Syndrome
Majeed Syndrome
Male Pseudohermaphroditism
Malignant Hyperthermia
Malignant Migrating Partial Seizures of Infancy
Malonyl-CoA Decarboxylase Deficiency
MAN1B1-CDG
Mandibuloacral Dysplasia
Mandibulofacial Dysostosis
Manitoba Oculotrichoanal Syndrome
Mannosidosis
Manouvrier Syndrome
Marden Walker-Like Syndrome
Marden-Walker Syndrome
Marfan Syndrome
Marie Unna Congenital Hyporichosis
Marinesco-Sjogren Syndrome
Marshall Syndrome
Marshall-Smith Syndrome
Martsolf Syndrome
Mastocytosis Cutaneous
Maternal Hyperphenylalaninemia
Maternally Inherited Diabetes and Deafness
Maturity-Onset Diabetes of the Young
Maxillonasal Dysplasia
McCune-Albright Syndrome
McDonough Syndrome
McKusick Kaufman Syndrome
McLeod Neuroacanthocytosis Syndrome
McPherson Clemens Syndrome
Meacham Winn Culler Syndrome
Meckel Syndrome
MECP2 Duplication Syndrome
Medeira-Dennis-Donnai Syndrome
Median Cleft of Upper Lip
Median Nodule of the Upper Lip
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Medrano Roldan Syndrome
Medulloblastoma
Meesmann Corneal Dystrophy
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Megaduodenum and/or Megacystis
Megaepiphyseal Dwarfism
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency
Megalocornea
Megarbane Jalkh Syndrome
Megarbane Syndrome
Mehes Syndrome
Mehta Lewis Patton Syndrome
Meier-Gorlin Syndrome
Meige Syndrome
Meleda Disease
Melnick-Needles Syndrome
Melorheostosis
Meningocele
Menkes Disease
Mental Retardation
Mesomelia-Synostoses Syndrome
Mesomelic Dwarfism
Metacarpals 4 and 5 Fusion
Metachondromatosis
Metaphyseal Acroscyphodysplasia
Metaphyseal Chondrodysplasia
Metaphyseal Dysostosis
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth
Metatropic Dysplasia
Methemoglobinemia
Methimazole Antenatal Exposure
Methionine Adenosyltransferase Deficiency
Methylcobalamin Deficiency cbl G Type
Methylmalonic Acidemia and Homocysteinemia
Methylmalonic Aciduria, cblA Type
Methylmalonic Aciduria, cblB Type
Mevalonic Aciduria
MGAT2-CDG (CDG-IIa)
Michelin Tire Baby Syndrome
Michels Caskey Syndrome
Micro Syndrome
Microbrachycephaly Ptosis Cleft Lip
Microcephalic Osteodysplastic Primordial Dwarfism
Microcephalic Primordial Dwarfism
Microcephaly Autosomal Dominant
Microcephaly
Microcoria
Microcystic Lymphatic Malformation
Microduplication Xp11.22-p11.23 Syndrome
Microgastria Limb Reduction Defect
Microhydranencephaly
Microphthalmia Associated with Colobomatous Cyst
Microphthalmia Syndrome
Microsomia Hemifacial Radial Defects
Microtia
Microtia-Anotia
Microvillus Inclusion Disease
Midphalangeal Hair
Mild Phenylketonuria
Miles-Carpenter X-Linked Mental Retardation Syndrome
Miller Syndrome
Miller-Dieker Syndrome
Milner Khallouf Gibson Syndrome
Milroy Disease
Minicore Myopathy
Mitochondrial Complex I Deficiency
Mitochondrial Complex II Deficiency
Mitochondrial Complex III Deficiency
Mitochondrial DNA-Associated Leigh Syndrome
Mitochondrial Encephalomyopathy Lactic Acidosis
Mitochondrial Genetic Disorders
Mitochondrial Membrane Protein-Associated Neurodegeneration
Mitochondrial Myopathy
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
Mitochondrial Trifunctional Protein Deficiency
Mitral Atresia
Mitral Regurgitation
Mitral Valve Prolapse
Miyoshi Myopathy
Moebius Syndrome
MOGS-CDG (CDG-IIb)
Mohr-Tranebjaerg Syndrome
Moloney Syndrome
Molybdenum Cofactor Deficiency
MOMO Syndrome
Monilethrix
Monoamine Oxidase A Deficiency
Morgagni-Stewart-Morel Syndrome
MORM Syndrome
Morse-Rawnsley-Sargent Syndrome
Mosaic Trisomy 8
Mosaic Trisomy 9
Mosaic Trisomy 14
Mosaic Trisomy 22
Mosaic Variegated Aneuploidy Syndrome
Mounier-Kuhn Syndrome
Mousa Al Din Al Nassar Syndrome
Mowat-Wilson Syndrome
Moyamoya Disease
MPDU1-CDG (CDG-If)
MPI-CDG (CDG-Ib)
MPV17-Related Hepatocerebral Ditochondrial DNA depletion Syndrome
Muckle-Wells Syndrome
Mucolipidosis III Alpha/Beta
Mucolipidosis
Mucopolysaccharidosis
Muenke Syndrome
Muir-Torre Syndrome
Mulibrey Nanism
Muller Barth Menger Syndrome
Multicentric Carpotarsal Osteolysis Syndrome
Multicentric Osteolysis Nephropathy
Multicystic Renal Dysplasia
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Multiple Endocrine Neoplasia
Multiple Familial Trichoepithelioma
Multiple Fibrofolliculoma
Multiple Pterygium Syndrome
Multiple Sulfatase Deficiency
Multiple Symmetric Lipomatosis
Multiple Synostoses Syndrome 1
Multiple Synostoses Syndrome 2
Multiple System Atrophy
Multisystemic Smooth Muscle Dysfunction Syndrome
Mungan Syndrome
MURCS Association
Muscle Eye Brain Disease
Muscular Atrophy Ataxia
Muscular Dystrophy
Muscular Phosphorylase Kinase Deficiency
Musculocontractural Ehlers-Danlos Syndrome
MYD88 Deficiency
Myelocerebellar Disorder
MYH7-Related Scapuloperoneal Myopathy
Myhre Syndrome
Myoclonic Astatic Epilepsy
Myoclonic Epilepsy with Ragged Red Fibers
Myoclonus Cerebellar Ataxia Deafness
Myoclonus Hereditary Progressive Distal Muscular Atrophy
Myoclonus-Dystonia
Myoglobinuria Recurrent
Myokymia with Neonatal Epilepsy
Myopathic Carnitine Deficiency
Myopathy with Extrapyramidal Signs
Myosin Storage Myopathy
Myotonia Congenita
Myotonic Dystrophy Type 1
Myotonic Dystrophy Type 2

N - Congenital and Genetic Diseases and Disorders
==========================
N syndrome
N-Acetylglutamate Synthase Deficiency
Nablus Mask-Like Facial Syndrome
Naegeli Syndrome
Nager Acrofacial Dysostosis
Naguib-Richieri-Costa Syndrome
Nail Dysplasia, Isolated Congenital
Nail-Patella Syndrome
Nakajo Nishimura Syndrome
Nakajo Syndrome
Nance-Horan Syndrome
Nasodigitoacoustic Syndrome
Nathalie Syndrome
Native American Myopathy
Naxos Disease
Neonatal Adrenoleukodystrophy
Neonatal Hemochromatosis
Neonatal Intrahepatic Cholestasis
Neonatal Progeroid Syndrome
Neonatal Severe Hyperparathyroidism
Nephrogenic Diabetes Insipidus
Nephropathic Cystinosis
Nephropathy, Deafness, and Hyperparathyroidism
Nestor-Guillermo Progeria Syndrome
Netherton Syndrome
Neu Laxova Syndrome
Neural Tube Defects - Not a rare disease
Neuroaxonal Dystrophy
Neurofaciodigitorenal Syndrome
Neuroferritinopathy
Neurofibromatosis
Neuronal Ceroid Lipofuscinosis
Neurofibromatosis-Noonan Syndrome
Neuronal Intranuclear Inclusion Disease
Neuropathy Ataxia Retinitis Pigmentosa Syndrome
Neuropathy
Neutral Lipid Storage Disease with Myopathy
Neutrophil-Specific Granule Deficiency
Nevoid Basal Cell Carcinoma Syndrome
Nevus Comedonicus Syndrome
Nguyen Syndrome
Nicolaides-Baraitser Syndrome
Niemann-Pick Disease
Nievergelt Syndrome
Nijmegen Breakage Syndrome
Non-Involuting Congenital Hemangioma
Nonbullous Congenital Ichthyosiform Erythroderma
Nonspherocytic Hemolytic Anemia
Nonsyndromic Hereditary Sensorineural Hearing Loss
Noonan Syndrome
Noonan-Like Syndrome
Norrie Disease
North Carolina Macular Dystrophy
Northern Epilepsy
Not Otherwise Specified 3-MGA-Uria Type
Novak Syndrome

O - Congenital and Genetic Diseases and Disorders
==========================
Obesity Due to Congenital Leptin Deficiency
Occipital Horn Syndrome
Ochoa Syndrome
Ocular Albinism
Oculo Skeletal Renal Syndrome
Oculoauriculofrontonasal Syndrome
Oculocerebral Syndrome with Hypopigmentation
Oculocerebrocutaneous Syndrome
Oculocutaneous Albinism
Oculodentodigital Dysplasia
Oculoectodermal Syndrome
Oculofaciocardiodental Syndrome
Oculomaxillofacial Dysostosis
Oculomotor Apraxia Cogan
Oculopharyngeal Muscular Dystrophy
Oculopharyngodistal Myopathy
Oculorenocerebellar Syndrome
Odonto Onycho Dysplasia
Odontoma Dysphagia Syndrome
Odontomicronychial Dysplasia
Odontoonychodermal Dysplasia
Oguchi Disease
Okamoto Syndrome
Oligodactyly Tetramelic Postaxial
Oligomeganephronic Renal Hypoplasia
Oliver Syndrome
Olivopontocerebellar Atrophy Deafness
Ollier Disease
Olmsted Syndrome
Omenn Syndrome
Omodysplasia
Omphalocele Cleft Palate Syndrome Lethal
Omphalocele
Omphalomesenteric Cyst
Onychodystrophy-Anonychia
Onychotrichodysplasia and Neutropenia
OPA3 Defect
OPHN1 Syndrome
Opsismodysplasia
Optic Atrophy
Optic Atrophy Polyneuropathy Deafness
Ornithine Transcarbamylase Deficiency
Ornithine Translocase Deficiency Syndrome
Orofaciodigital Syndromes
Orotic Aciduria
Orstavik Lindemann Solberg Syndrome
Oslam Syndrome
OSMED Syndrome
Ossicular Malformations
Osteoarthropathy
Osteodysplasia
Osteofibrous Dysplasia
Osteogenesis Imperfecta
Osteoglophonic Dysplasia
Osteolysis Syndrome Recessive
Osteomesopyknosis
Osteopathia Striata Cranial Sclerosis
Osteopathia Striata
Osteopenia and Sparse Hair
Osteopetrosis
Osteopoikilosis and Dacryocystitis
Osteoporosis Oculocutaneous Hypopigmentation Syndrome
Osteoporosis-Pseudoglioma Syndrome
Ostium Secundum Atrial Septal Defect
Oto-Palato-Digital Syndrome
Otodental Dysplasia
Otofaciocervical Syndrome
Otoonychoperoneal Syndrome
Ouvrier Billson Syndrome

P - Congenital and Genetic Diseases and Disorders
==========================
Pachydermoperiostosis
Pachygyria
Pachyonychia Congenita
Pacman Dysplasia
PACS1-Related Syndrome
PAGOD Syndrome
Pagon Stephan Syndrome
Paine Syndrome
Palant Cleft Palate Syndrome
Palatopharyngeal Incompetence
Pallidopyramidal Syndrome
Pallister W Syndrome
Pallister-Hall Syndrome
Pallister-Killian Mosaic Syndrome
Palmer Pagon Syndrome
Palmoplantar Keratoderma-Sclerodactyly Syndrome
Pancreatic Cancer - Not a rare disease
Panhypopituitarism
Panostotic Fibrous Dysplasia
Papillary Renal Cell Carcinoma
Papillon Lefevre Syndrome
Paraganglioma and Gastric Stromal Sarcoma
Paramyotonia Congenita
Parastremmatic Dwarfism
PARC Syndrome
Paris-Trousseau Thrombocytopenia
Parkes Weber Syndrome
Parkinson Disease
Parkinsonism, Early Onset with Mental Retardation
Paroxysmal Exertion-Induced Dyskinesia
Paroxysmal Extreme Pain Disorder
Paroxysmal Kinesigenic Choreoathetosis
Paroxysmal Nocturnal Hemoglobinuria
Paroxysmal Ventricular Fibrillation
Paroxysomal Nonkinesigenic Dyskinesia
Partial Androgen Insensitivity Syndrome
Partington Syndrome
PASLI Disease
Passos-Bueno Syndrome
Patterson-Stevenson-Fontaine Syndrome
PCDH19-Related Female-Limited Epilepsy
Pearson Syndrome
Pectus Carinatum
PEHO Syndrome
Pelger-Huet Anomaly
Pelvic Dysplasia Arthrogryposis of Lower Limbs
Pendred Syndrome
Pentalogy of Cantrell
Pentosuria
Periodic Fever
Periodontal Ehlers-Danlos Syndrome
Peripheral Resistance to Thyroid Hormones
Periventricular Heterotopia
Perlman Syndrome
Permanent Neonatal Diabetes Mellitus
Peroxisomal Biogenesis Disorders
Perrault Syndrome
Perry Syndrome
Persistent Mullerian Duct Syndrome
Peters Plus Syndrome
Petit-Fryns Syndrome
Peutz-Jeghers Syndrome
Pfeiffer Mayer Syndrome
Pfeiffer Palm Teller Syndrome
Pfeiffer Syndrome
Pfeiffer Tietze Welte Syndrome
PGM1-CDG
PGM3-CDG
PHACE Syndrome
PHAVER Syndrome
Phenobarbital Antenatal Exposure
Pheochromocytoma
Phocomelia Ectrodactyly Deafness Sinus Arrhythmia
Phosphoglycerate Kinase Deficiency
Phosphoglycerate Mutase Deficiency
Phosphoserine Aminotransferase Deficiency
Piebaldism
Pierre Robin Sequence
Pierson Syndrome
Pili Annulati
Pili Torti
Pilodental Dysplasia
Pinheiro Freire-Maia Miranda Syndrome
Pitt-Hopkins Syndrome
Pitt-Hopkins-Like Syndrome
Pituitary Dwarfism
Pituitary Hormone Deficiency
Pituitary Stalk Interruption Syndrome
Pityriasis Rubra Pilaris
Plagiocephaly
Plagiocephaly
Plasminogen Activator Inhibitor Type 1 Deficiency
Platyspondylic Lethal Skeletal Dysplasia
PMM2-CDG (CDG-Ia)
Poikiloderma
Poland Syndrome
Polycystic Kidneys
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
Polycystic Liver Disease
Polydactyly
Polydactyly Myopia Syndrome
Polyglucosan Body Disease, Adult
Polyneuropathy
Polyosteolysis/Hyperostosis Syndrome
Polyostotic Osteolytic Dysplasia, Hereditary Expansile
Polysyndactyly Cardiac Malformation
Pontine Tegmental Cap Dysplasia
Pontocerebellar Hypoplasia
Popliteal Pterygium Syndrome
Porokeratosis of Mibelli
Porokeratosis
Porphyria Qutanea Tarda
Posterior Column Ataxia with Retinitis Pigmentosa
Postnatal Progressive Microcephaly
Potassium Aggravated Myotonia
Potato Nose
Potocki-Lupski Syndrome
Potocki-Shaffer Syndrome
Potter Syndrome
PPM-X Syndrome
Prader-Willi Syndrome
Preaxial Deficiency
Preaxial Polydactyly
Prekallikrein Deficiency
Primary Angiitis of the Central Nervous System
Primary Basilar Impression
Primary Carnitine Deficiency
Primary Ciliary Dyskinesia
Primary Familial Brain Calcification
Primary Fanconi Syndrome
Primary Hyperoxaluria
Primary Hypomagnesemia with Secondary Hypocalcemia
Primary Intestinal Lymphangiectasia
Primary Lateral Sclerosis
Primary Open Angle Glaucoma Juvenile Onset 1
Primary Pigmented Nodular Adrenocortical Disease
Primrose Syndrome
Progeria
Progeroid Short Stature with Pigmented Nevi
Progeroid Syndrome Petty Type
Prognathism Mandibular
Progressive Bifocal Chorioretinal Atrophy
Progressive Deafness with Stapes Fixation
Progressive External Ophthalmoplegia
Progressive Familial Heart Block
Progressive Familial Intrahepatic Cholestasis
Progressive Non-Fluent Aphasia
Progressive Osseous Heteroplasia
Progressive Pseudorheumatoid Dysplasia
Prolidase Deficiency
Proopiomelanocortin Deficiency
Propionic Acidemia
Protein C Deficiency - Not a rare disease
Proteus Syndrome
Proteus-Like Syndrome
Proud Syndrome
Proximal Chromosome 18q Deletion Syndrome
Proximal Symphalangism
Prune Belly Syndrome
Pseudo Pelger-Huet Anomaly
Pseudo-Von Willebrand Disease
Pseudoachondroplasia
Pseudoaminopterin Syndrome
Pseudocholinesterase Deficiency
Pseudodiastrophic Dysplasia
Pseudohypoaldosteronism
Pseudomarfanism
Pseudoneonatal Adrenoleukodystrophy
Pseudoprogeria Syndrome
Pseudopseudohypoparathyroidism
Pseudotrisomy 13 Syndrome
Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum, Forme Fruste
Pterygia
Pterygium Colli Mental Retardation Digital Anomalies
Ptosis Strabismus Ectopic Pupils
Pulmonary Alveolar Microlithiasis
Pulmonary Arterio-Veinous Fistula
Pulmonary Atresia
Pulmonary Vein Stenosis
Pulmonary Venoocclusive Disease
Punctate Palmoplantar Keratoderma
Purine Nucleoside Phosphorylase Deficiency
Pustulosis Palmaris et Plantaris
Pycnodysostosis
Pyknoachondrogenesis
Pyle Disease
Pyogenic Arthritis
Pyridoxal 5'- Phosphate-Dependent Epilepsy
Pyridoxine-Dependent Epilepsy
Pyropoikilocytosis
Pyruvate Dehydrogenase Phosphatase Deficiency
Pyruvate Kinase Deficiency

Q - Congenital and Genetic Diseases and Disorders
==========================
Qazi Markouizos Syndrome
Quebec Platelet Disorder

R - Congenital and Genetic Diseases and Disorders
==========================
Rabson-Mendenhall Syndrome
Radial Defect Robin Sequence
Radial Hypoplasia
Radial Ray Agenesis
Radial Ray Hypoplasia Choanal Atresia
Radio Renal Syndrome
Radioulnar Synostosis
Radius Absent Anogenital Anomalies
Raine Syndrome
Ramon Syndrome
Ramos Arroyo Clark Syndrome
Rapadilino Syndrome
Rapid-Onset Dystonia-Parkinsonism
Rapp-Hodgkin Syndrome
Rasmussen Johnsen Thomsen Syndrome
Reardon Wilson Cavanagh Syndrome
Recombinant Chromosome 8 Syndrome
Reducing Body Myopathy
Refsum Disease
Renal Agenesis
Renal Coloboma Syndrome
Renal Dysplasia
Renal Dysplasia-Limb Defects Syndrome
Renal Glycosuria
Renal Hypomagnesemia 2
Renal Hypomagnesemia-6
Renal Hypouricemia
Renal Tubular Acidosis
Renier Gabreels Jasper Syndrome
Renpenning Syndrome 1
Reticular Dysgenesis
Retinal Arterial Macroaneurysm
Retinal Cone Dystrophy 1
Retinal Degeneration
Retinal Vasculopathy
Retinitis Pigmentosa
Retinitis Pigmentosa-Deafness Syndrome
Retinopathy Pigmentary Mental Retardation
Rett Syndrome
Revesz Syndrome
RFT1-CDG (CDG-In)
Rh Deficiency Syndrome
Rhizomelic Chondrodysplasia Punctata
Rhizomelic Syndrome
RHYNS Syndrome
Riboflavin Transporter Deficiency
Richards-Rundle Syndrome
Richieri Costa Pereira Syndrome
Right Ventricle Hypoplasia
Rigid Spine Syndrome
Ring Chromosome 1
Ring Chromosome 10
Ring Chromosome 12
Ring Chromosome 13
Ring Chromosome 14
Ring Chromosome 15
Ring Chromosome 16
Ring Chromosome 17
Ring Chromosome 18
Ring Chromosome 20
Ring Chromosome 21
Ring Chromosome 22
Ring Chromosome 4
Ring Chromosome 6
Ring Chromosome 7
Ring Chromosome 8
Ring Chromosome 9
Rippling Muscle Disease
RNAse T2-Deficient Leukoencephalopathy
Roberts Syndrome
Robinow Syndrome
Roch-Leri Mesosomatous Lipomatosis
Rodrigues Blindness
Roifman Syndrome
Rokitansky Sequence
Rokitansky-Aschoff Sinuses of the Gallbladder
Rombo Syndrome
Rommen Mueller Sybert Syndrome
Rothmund-Thomson Syndrome
Rotor Syndrome
Roussy Levy Syndrome
Rozin Hertz Goodman Syndrome
RRM2B-Related Mitochondrial DNA Depletion Syndrome
Rud Syndrome
Russell-Silver Syndrome
Rutherfurd Syndrome
Ruvalcaba Syndrome
Ruzicka Goerz Anton Syndrome

S - Congenital and Genetic Diseases and Disorders
==========================
Sabinas Brittle Hair Syndrome
Saccharopinuria
Sacral Defect with Anterior Meningocele
Sacral Hemangiomas Multiple Congenital Abnormalities
Sacral Meningocele Conotruncal Heart Defects
Saethre-Chotzen syndrome
Saito Kuba Tsuruta Syndrome
Sakati Syndrome
Sakoda Complex
Salcedo Syndrome
Salla Disease
Sarcosinemia
Satoyoshi Syndrome
Saul Wilkes Stevenson Syndrome
Say Barber Miller Syndrome
Say Meyer Syndrome
Say Syndrome
Say-Field-Coldwell Syndrome
Scalp Defects Postaxial Polydactyly
Scalp Ear Nipple Syndrome
Scapuloperoneal Syndrome
SCARF Syndrome
Schaap Taylor Baraitser Syndrome
Schaefer Stein Oshman Syndrome
Scheie Syndrome
Scheuermann Disease
Schimke Immunoosseous Dysplasia
Schindler Disease
Schinzel Giedion Syndrome
Schisis Association
Schizencephaly
Schneckenbecken Dysplasia
Scholte Syndrome
Schrander-Stumpel Theunissen Hulsmans Syndrome
Schwannomatosis
Schwartz Jampel Syndrome
Sclerosing Bone Dysplasia Mental Retardation
Sclerosteosis
SCOT Deficiency
Scott Bryant Graham Syndrome
Scott Syndrome
Sea-Blue Histiocytosis
Seaver Cassidy Syndrome
Sebaceous Gland Hyperplasia
Seckel-Like Syndrome
Seckel Syndrome
Segmentation Syndrome
Selective IgM Deficiency
Semantic Dementia
Semmekrot Haraldsson Weemaes Syndrome
Sengers Syndrome
Senior Loken Syndrome
Sensory Ataxic Neuropathy
Sepiapterin Reductase Deficiency
Septo-Optic Dysplasia Spectrum
Sequeiros Sack Syndrome
Seres-Santamaria Arimany Muniz Syndrome
SeSAME Syndrome
Severe combined Immunodeficiency
Severe Congenital Nemaline Myopathy
Severe Congenital Neutropenia
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome
Sheldon-Hall Syndrome
Short Limb Dwarf
Short Rib-Polydactyly Syndrome
Short Stature Syndrome
Short Stature Wormian Bones Dextrocardia
SHORT Syndrome
Short-Chain acyl-CoA Dehydrogenase Deficiency
Shprintzen Omphalocele Syndrome
Shprintzen-Goldberg Craniosynostosis Syndrome
Shwachman-Diamond Syndrome
Sialidosis
Sialuria
Sickle Beta Thalassemia
Sickle Cell - Hemoglobin D Disease
Sickle Cell Anemia
Siderius X-Linked Mental Retardation Syndrome
Sideroblastic Anemia
Siegler Brewer Carey Syndrome
Silengo Lerone Pelizza Syndrome
Sillence Syndrome
Simosa Cranio Facial Syndrome
Simpson-Golabi-Behmel Syndrome
Single Upper Central Incisor
Singleton Merten Syndrome
Sirenomelia
Sitosterolemia
Situs Inversus
Sjogren-Larsson Syndrome
Skeletal Dysplasia
Skeletal Dysplasias - Not a rare disease
Skin Fragility-woolly Hair-Palmoplantar Keratoderma Syndrome
SLC35A1-CDG (CDG-IIf)
SLC35A2-CDG
SLC35C1-CDG (CDG-IIc)
Slow-Channel Congenital Myasthenic Syndrome
Small Patella Syndrome
Smith McCort Dysplasia
Smith-Lemli-Opitz Syndrome
Smith-Magenis Syndrome
Sneddon Syndrome
Snowflake Vitreoretinal Degeneration
Snyder-Robinson Syndrome
Sonoda Syndrome
Sotos Syndrome
Spasmodic Dysphonia
Spastic Ataxia
Spastic Paraplegia
Spastic Quadriplegia Retinitis Pigmentosa Mental Retardation
Specific Antibody Deficiency
Spina Bifida
Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome
Spinal Muscular Atrophy
Spinocerebellar Ataxia
Spinocerebellar Degeneration
Splenogonadal Fusion Limb Defects Micrognatia
Split Hand Foot Malformation
Split Hand Split Foot Nystagmus
Split Hand Urinary Anomalies Spina Bifida
Split Spinal Cord Malformation
Spondylocamptodactyly
Spondylocarpotarsal Synostosis Syndrome
Spondylocostal Dysostosis
Spondyloenchondrodysplasia
Spondyloepimetaphyseal Dysplasia
Spondyloepiphyseal Dysplasia
Spondylospinal Thoracic Dysostosis
Spondylothoracic Dysostosis
Sprengel Deformity
SRD5A3-CDG (CDG-Iq)
SSR4-CDG
Stalker Chitayat Syndrome
STAR Syndrome
Stargardt Disease
Stargardt Macular Degeneration Absent
Steatocystoma Multiplex
Steinfeld Syndrome
Sternal Cleft
Stickler Syndrome
Stiff Person Syndrome
Stiff skin Syndrome
Stocco dos Santos Syndrome
Stomatocytosis I
Striatonigral Degeneration Infantile
Sturge-Weber Syndrome
Stuve-Wiedemann Syndrome
Subaortic Stenosis Short Stature Syndrome
Subcortical Band Heterotopia
Succinic Semialdehyde Dehydrogenase Deficiency
Sudden Infant Death
Sugarman Brachydactyly
Summitt Syndrome
Supernumerary Nipple - Not a rare disease
Supraumbilical Midabdominal Raphe
Supravalvular Aortic Stenosis
Swyer Syndrome
Symphalangism
Syndactyly Cenani
Syndactyly-Polydactyly-Earlobe Syndrome
Syndromic Microphthalmia
Syngnathia Cleft Palate
Syngnathia Multiple Anomalies
Synovial Chondromatosis
Syringomyelia

T - Congenital and Genetic Diseases and Disorders
==========================
Tabatznik Syndrome
Talonavicular Coalition
Tangier Disease
TAR Syndrome
Tardive Dyskinesia - Not a rare disease
TARP Syndrome
Tarsal Carpal Coalition Syndrome
Taurodontia, Absent Teeth, Sparse Hair Syndrome
Taurodontism
Teebi Kaurah Syndrome
Teebi Naguib Al Awadi Syndrome
Teebi Shaltout Syndrome
Teeth Noneruption
Tel Hashomer Camptodactyly Syndrome
Telfer Sugar Jaeger Syndrome
Temporal Epilepsy
Temtamy Preaxial Brachydactyly Syndrome
Temtamy Syndrome
Testotoxicosis
Tethered Cord Syndrome
Tetra-Amelia Syndrome
Tetraamelia
Tetralogy of Fallot
Tetramelic Monodactyly
Tetraploidy
Tetrasomy 9p
Tetrasomy 21
Tetrasomy X
Thai Symphalangism Syndrome
Thakker-Donnai Syndrome
Thanatophoric Dysplasia
Thiamine Responsive Megaloblastic Anemia Syndrome
Thiopurine Methyltranferase Deficiency
Thomas Syndrome
Thompson Baraitser Syndrome
Thoraco Abdominal Enteric Duplication
Thoracolaryngopelvic Dysplasia
Thoracomelic Dysplasia
Thrombocytopathy Asplenia Miosis
Thrombotic Thrombocytopenic Purpura
Thumb Deformity
Thymic-Renal-Anal-Lung Dysplasia
Thyroid Agenesis
Tibia Absent Polydactyly Arachnoid Cyst
Tietz Syndrome
Tight Skin Contracture Syndrome
Timothy Syndrome
TMEM165-CDG (CDG-IIk)
Tollner Horst Manzke Syndrome
Tolosa Hunt Syndrome
Tonoki Syndrome
Torg Winchester Syndrome
Toriello-Carey Syndrome
Torticollis Keloids Cryptorchidism Renal Dysplasia
Torticollis
Total Hypotrichosis
Townes-Brocks Syndrome
Tracheal Agenesis
Tranebjaerg Svejgaard Syndrome
Transaldolase Deficiency
Transient Bullous Dermolysis of the Newborn
Transient Infantile Liver Failure
Transient Neonatal Diabetes Mellitus
Treacher Collins Syndrome
Tricho-Dento-Osseous Syndrome
Trichodental Syndrome
Trichohepatoenteric Syndrome
Trichomegaly
Trichorhinophalangeal Syndrome
Trichothiodystrophy
Tricuspid Atresia
Trigonobrachycephaly
Trigonocephaly Bifid Nose Acral Anomalies
Triosephosphate Isomerase Deficiency
Triphalangeal Thumbs Brachyectrodactyly
Triple A Syndrome
Triploidy
Trismus-Pseudocamptodactyly Syndrome
Trisomy 2 Mosaicism
Trisomy 3 Mosaicism
Trisomy 13
Trisomy 17 Mosaicism
Trisomy 18
Troyer Syndrome
Tryptophanuria with Dwarfism
Tuberous Sclerosis
Tubular Aggregate Myopathy
Tucker Syndrome
Tufted Angioma
Tufting Enteropathy
Tukel Syndrome
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome
Twenty-Nail Dystrophy
Tylosis
Type 1 Plasminogen Deficiency
Typical Congenital Nemaline Myopathy
Tyrosine Hydroxylase Deficiency
Tyrosine-Oxidase Temporary Deficiency
Tyrosinemia

U - Congenital and Genetic Diseases and Disorders
==========================
Ullrich Congenital Muscular Dystrophy
Ulna and Fibula Absence
Ulna and Fibula, Hypoplasia of
Ulna Hypoplasia
Ulna Metaphyseal Dysplasia Syndrome
Ulnar Hypoplasia
Ulnar-Mammary Syndrome
Uncombable Hair Syndrome
Uniparental Disomy, Paternal, Chromosome 14
Unverricht-Lundborg Disease
Upington Disease
Urachal Cyst
Urogenital Adysplasia
Uropathy Distal Obstructive Polydactyly
Usher Syndrome
UV Sensitive Syndrome

V - Congenital and Genetic Diseases and Disorders
==========================
VACTERL Association
VACTERL Hydrocephaly
Vagina, Absence of
Vagneur Triolle Ripert Syndrome
Van Benthem-Driessen-Hanveld Syndrome
Van Buchem Disease
Van Den Bosch Syndrome
Van Der Woude Syndrome
Variegate Porphyria
Vascular Ehlers-Danlos Syndrome
Vascular Hyalinosis
Vein of Galen Aneurysm
Ventricular Extrasystoles with Syncopal Episodes
Verloes Bourguignon Syndrome
Verloes Van Maldergem Marneffe Syndrome
Verloove Vanhorick Brubakk Syndrome
Vibratory Urticaria
Vici Syndrome
Viljoen Kallis Voges Syndrome
Vitreoretinochoroidopathy Dominant
VLCAD Deficiency
Vocal Cord Dysfunction
Vohwinkel Syndrome
Von Hippel-Lindau Disease

W - Congenital and Genetic Diseases and Disorders
==========================
Waardenburg Syndrome
Wagner Syndrome
WAGR Syndrome
Walker-Warburg Syndrome
Warfarin Syndrome
Warman Mulliken Hayward Syndrome
Watson Syndrome
Weaver Syndrome
Weill-Marchesani Syndrome
Weinstein Kliman Scully Syndrome
Weissenbacher-Zweymuller Syndrome
Welander Distal Myopathy
Wells-Jankovic Syndrome
Werner's Syndrome
West Syndrome
Weyers Acrofacial Dysostosis
Weyers Ulnar Ray/Oligodactyly Syndrome
WHIM Syndrome
Whistling Face Syndrome
White Forelock
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
White Sponge Nevus of Cannon
Wildervanck Syndrome
Williams Syndrome
Wilms' Tumor
Wilson Disease
Wilson-Turner Syndrome
Wiskott Aldrich Syndrome
Witkop Syndrome
Wolf-Hirschhorn Syndrome
Wolff-Parkinson-White Syndrome - Not a rare disease
Wolfram Syndrome
Wolman Disease
Woodhouse Sakati Syndrome
Woods Black Norbury Syndrome
Woolly Hair Syndrome
Wrinkly Skin Syndrome
WT Limb Blood Syndrome
Wyburn Mason's Syndrome

X - Congenital and Genetic Diseases and Disorders
==========================
X-Linked Adrenal Hypoplasia Congenita
X-Linked Agammaglobulinemia
X-Linked Charcot-Marie-Tooth Disease
X-Linked Complicated Corpus Callosum Agenesis
X-Linked Complicated Spastic Paraplegia
X-Linked Congenital Generalized Hypertrichosis
X-Linked Congenital Stationary Night Blindness
X-Linked Creatine Deficiency
X-Linked Dystonia-Parkinsonism/Lubag
X-Linked Hereditary Sensory and Autonomic Neuropathy
X-Linked Hypohidrotic Ectodermal Dysplasia
X-Linked Hypophosphatemia
X-Linked Ichthyosis
X-Linked Intellectual Disability
X-Linked Lissencephaly
X-Linked Lymphoproliferative Syndrome
X-Linked Mental Retardation
X-Linked Myopathy
X-Linked Myotubular Myopathy
X-Linked Periventricular Heterotopia
X-Linked Severe Combined Immunodeficiency
X-Linked Sideroblastic Anemia
X-Linked Susceptibility to Autism
X-Linked Thrombocytopenia
Xanthinuria
Xeroderma Pigmentosum
XFE Progeroid Syndrome
XK Aprosencephaly

Y - Congenital and Genetic Diseases and Disorders
==========================
Yellow Nail Syndrome
Yemenite Deaf-Blind Hypopigmentation Syndrome
Yorifuji Okuno Syndrome
Young Syndrome
Yunis-Varon Syndrome

Z - Congenital and Genetic Diseases and Disorders
==========================
Zadik Barak Levin Syndrome
ZAP-70 Deficiency
Zazam Sheriff Phillips Syndrome
Zechi Ceide Syndrome
Zellweger Syndrome
Zlotogora Syndrome
Zori Stalker Williams Syndrome
Zunich Neuroectodermal Syndrome

Source: https://rarediseases.info.nih.gov/