Congenital and Genetic Diseases

11-beta-hydroxylase deficiency
12q14 microdeletion syndrome
15q11.2 microdeletion
15q13.3 microdeletion syndrome
15q24 microdeletion syndrome
16p11.2 deletion syndrome
16p13.11 microduplication syndrome
16q24.3 microdeletion syndrome
17-alpha-hydroxylase deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency
17q12 deletion syndrome
17q12 duplication
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
2p15p16.1 microdeletion 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
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
Absence of tibia with polydactyly
Absent breasts and nipples
Absent patella
Acalvaria
Acanthosis nigricans – Not a rare disease
Acanthosis nigricans muscle cramps acral enlargement
Acardia
Acatalasemia
Accessory deep peroneal nerve
Accessory navicular bone – Not a rare disease
Accessory pancreas
Aceruloplasminemia
Achalasia microcephaly syndrome
Achard syndrome
Acheiropody
Achondrogenesis
Achondrogenesis type 1A – See Achondrogenesis
Achondrogenesis type 1B – See Achondrogenesis
Achondrogenesis type 2 – See Achondrogenesis
Achondroplasia
Acitretin embryopathy
Acral dysostosis dyserythropoiesis syndrome
Acral peeling skin syndrome
Acro-pectoro-renal field defect
Acrocallosal syndrome, Schinzel type
Acrocapitofemoral dysplasia
Acrocephalopolydactyly
Acrodermatitis enteropathica
Acrodysostosis
Acrodysplasia scoliosis
Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia
Acrofacial dysostosis Catania type
Acrofacial dysostosis Palagonia type
Acrofacial dysostosis Rodriguez type
Acrofrontofacionasal dysostosis syndrome
Acrogeria, Gottron type
Acrokeratoelastoidosis of Costa
Acromegaloid facial appearance syndrome
Acromegaloid features, overgrowth, cleft palate and hernia
Acromegaloid hypertrichosis syndrome
Acromelic frontonasal dysostosis
Acromesomelic dysplasia Campailla Martinelli type
Acromesomelic dysplasia Hunter Thompson type
Acromesomelic dysplasia Maroteaux type
Acromicric dysplasia
Acroosteolysis dominant type
Acropectoral syndrome
Acropectorovertebral dysplasia F form
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 2 deficiency
Adenosine deaminase deficiency
Adenosine monophosphate deaminase 1 deficiency
Adenylosuccinase deficiency
Adermatoglyphia
Adrenomyeloneuropathy
Adrenomyodystrophy
Adult polyglucosan body disease
ADULT syndrome
Adult-onset citrullinemia type II
Adult-onset nemaline myopathy
Adult-onset vitelliform macular dystrophy
Advanced sleep phase syndrome, familial
Afibrinogenemia
Agammaglobulinemia, microcephaly, and severe dermatitis
Agammaglobulinemia, non-Bruton type
Agenesis of the dorsal pancreas
Agnathia-microstomia-synotia
Aicardi syndrome
Aicardi-Goutieres syndrome
Aicardi-Goutieres syndrome type 5
Akesson syndrome
Al Gazali Aziz Salem syndrome
Al Gazali Khidr Prem Chandran syndrome
Al Gazali Sabrinathan Nair syndrome
Al Gazali syndrome
Al-Awadi-Raas-Rothschild syndrome
Al-Gazali-Donnai-Mueller syndrome
Alagille syndrome
Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus
Albinism
Albinism deafness syndrome
Albinism ocular late onset sensorineural deafness
Albinism, minimal pigment type
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 totalis
Alopecia universalis
Alopecia universalis onychodystrophy vitiligo
Alopecia, epilepsy, pyorrhea, mental subnormality
Alopecia-contractures-dwarfism-intellectual disability syndrome
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
Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1
Amelogenesis imperfecta local hypoplastic
Amelogenesis imperfecta nephrocalcinosis
Ameloonychohypohidrotic syndrome
Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis
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 hereditary neurocutaneous
Angioma serpiginosum
Aniridia – ptosis – intellectual disability – familial obesity
Aniridia absent patella
Aniridia renal agenesis psychomotor retardation
Ankyloblepharon filiforme adnatum cleft palate
Ankyloblepharon filiforme imperforate anus
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Ankylosing vertebral hyperostosis with tylosis
Ankylosis of teeth
Annular pancreas
Anodontia
Anomalous origin of right pulmonary artery familial
Anonychia ectrodactyly
Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
Anophthalmia plus syndrome
Anophthalmos with limb anomalies
Anorchia
Antecubital pterygium
Anterior segment dysgenesis
Antley Bixler syndrome
Aortic arch anomaly – peculiar facies – intellectual disability
Aortic coarctation
Aortopulmonary window
Apert syndrome
Aphalangia partial with syndactyly and duplication of metatarsal IV
Aplasia cutis congenita
Aplasia cutis congenita intestinal lymphangiectasia
Aplasia cutis congenita of limbs recessive
Arachnodactyly – intellectual disability – dysmorphism
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 and ectodermal dysplasia
Arthrogryposis epileptic seizures migrational brain disorder
Arthrogryposis multiplex congenita neurogenic type
Arthrogryposis multiplex congenita whistling face
Arthrogryposis multiplex congenita, distal, X-linked
Arthrogryposis renal dysfunction cholestasis syndrome
Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
Arthrogryposis-like hand anomaly and sensorineural deafness
Arts syndrome
Ascher Syndrome
Aspartylglycosaminuria
Asternia
Ataxia – hypogonadism – choroidal dystrophy
Ataxia telangiectasia
Ataxia with oculomotor apraxia type 1
Ataxia with Oculomotor Apraxia Type 2
Ataxia with oculomotor apraxia type 4
Ataxia with vitamin E deficiency
Atelosteogenesis type 1
Atelosteogenesis type 2
Atelosteogenesis type 3
Athabaskan brainstem dysgenesis
Atkin syndrome
Atransferrinemia
Atresia of small intestine
Atrial myxoma, familial
Atrial septal defect coronary sinus
Atrial septal defect ostium primum
Atrial septal defect sinus venosus
Atypical Gaucher disease due to saposin C deficiency – See Gaucher disease
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 lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Autoimmune polyglandular syndrome type 1
Autoimmune polyglandular syndrome type 2
Autosomal dominant Alport syndrome
Autosomal dominant centronuclear myopathy
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant hyper IgE syndrome
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A – See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B – See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C – See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D – See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E – See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F – See Autosomal dominant intermediate Charcot-Marie-Tooth
Autosomal dominant leukodystrophy with autonomic disease
Autosomal dominant multiple pterygium syndrome – See Distal arthrogryposis
Autosomal dominant neuronal ceroid lipofuscinosis 4B
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant non-syndromic intellectual disability
Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal dominant partial epilepsy with auditory features
Autosomal dominant polycystic kidney disease – Not a rare disease
Autosomal dominant pseudohypoaldosteronism type 1
Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
Autosomal dominant spondyloepiphyseal dysplasia tarda
Autosomal dominant tubulointerstitial kidney disease due to REN mutations
Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
Autosomal dominant vitreoretinochoroidopathy
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 type A – See Autosomal recessive intermediate Charcot-Marie-Tooth disease
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B – See Autosomal recessive intermediate Charcot-Marie-Tooth disease
Autosomal recessive neuronal ceroid lipofuscinosis 4A – See Adult neuronal ceroid lipofuscinosis
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 spastic paraplegia type 49
Autosomal recessive spinocerebellar ataxia 9
Axenfeld-Rieger syndrome
Axial mesodermal dysplasia spectrum
Axial spondylometaphyseal dysplasia
Ayazi syndrome
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
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 4
Bare lymphocyte syndrome 2
Barraquer-Simons syndrome
Barth syndrome
Bartter syndrome type 3
Bartter syndrome type 4
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
Biemond syndrome 2
Bietti crystalline corneoretinal dystrophy
Bifid nose
Bifid nose with or without anorectal and renal anomalies
Bilateral frontal polymicrogyria
Bilateral frontoparietal polymicrogyria
Bilateral generalized polymicrogyria
Bilateral parasagittal parieto-occipital polymicrogyria
Bilateral perisylvian polymicrogyria
Bile acid synthesis defect, congenital, 4
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 with ptosis, syndactyly, and short stature
Blepharophimosis-epicanthus inversus-ptosis syndrome
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 Azouz type
Bone dysplasia lethal Holmgren type
Book syndrome
Boomerang dysplasia
BOR-Duane hydrocephalus contiguous gene syndrome
Borjeson-Forssman-Lehmann syndrome
Bork Stender Schmidt syndrome
Bowen-Conradi syndrome
Bowing of legs, anterior with dwarfism
Boylan Dew Greco syndrome
Brachioskeletogenital syndrome
Brachycephalofrontonasal dysplasia
Brachydactylous dwarfism Mseleni type
Brachydactyly elbow wrist dysplasia
Brachydactyly long thumb type
Brachydactyly Mononen type
Brachydactyly preaxial with hallux varus and thumb abduction
Brachydactyly tibial hypoplasia
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type A3
Brachydactyly type A4
Brachydactyly type A5
Brachydactyly type A6
Brachydactyly type A7
Brachydactyly type B
Brachydactyly type C
Brachydactyly type E
Brachydactyly types B and E combined
Brachydactyly with hypertension
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Brachyolmia type 3
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
Bradyopsia
Brain dopamine-serotonin vesicular transport disease
Brain-lung-thyroid syndrome
Branchial arch syndrome X-linked
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 1
Bruck syndrome 2
Brugada syndrome
Bullous dystrophy hereditary macular type
Buschke Ollendorff syndrome
C syndrome
C1q deficiency
Cabezas syndrome
CAD-CDG
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 syndrome Guadalajara type 1
Camptodactyly syndrome Guadalajara type 2
Camptodactyly syndrome Guadalajara type 3
Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
Camptodactyly, tall stature, and hearing loss syndrome
Camptodactyly-ichthyosis syndrome
Camptomelic syndrome long limb type
Camurati Engelmann disease, type 2
Camurati-Engelmann disease
Canavan disease
Candidiasis familial chronic mucocutaneous, autosomal recessive
Cantu Sanchez-Corona Fragoso syndrome
Cantu syndrome
Cap myopathy
Carbamoyl phosphate synthetase 1 deficiency
Carbonic anhydrase VA deficiency
Cardiac valvular dysplasia, X-linked
Cardiac-Valvular Ehlers-Danlos syndrome
Cardioauditory syndrome of Sanchez Cascos
Cardioencephalomyopathy
Cardiofaciocutaneous syndrome
Cardiomelic syndrome Stratton Koehler type
Cardiomyopathy and deafness due to tRNA lysine gene mutation
Cardiomyopathy cataract hip spine disease
Cardiomyopathy dilated with woolly hair and keratoderma
Cardioskeletal syndrome Kuwaiti type
Carey-Fineman-Ziter syndrome
Carney complex
Carney triad
Carnitine palmitoyl transferase 1A deficiency
Carnitine-acylcarnitine translocase deficiency
Carnosinemia
Caroli disease
Carpenter syndrome
Carpotarsal osteochondromatosis
Cartilage-hair hypoplasia
Cat eye syndrome
Cataract ataxia deafness
Cataract congenital Volkmann type
Cataract microcornea syndrome
Cataract, total congenital
Cataracts, ataxia, short stature, and mental retardation
Catatrichy
Catecholaminergic polymorphic ventricular tachycardia
Catel Manzke syndrome
Caudal appendage deafness
Caudal regression sequence
Central core disease
Cerebellar ataxia and hypogonadotropic hypogonadism
Cerebellar ataxia ectodermal dysplasia
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
Cerebellar hypoplasia
Cerebellar hypoplasia tapetoretinal degeneration
Cerebellar hypoplasia with endosteal sclerosis
Cerebelloparenchymal disorder 3
Cerebellum agenesis hydrocephaly
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
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
Cerebrooculonasal syndrome
Cerebrotendinous xanthomatosis
Ceroid lipofuscinosis neuronal 1
Cerulean cataract
Cervical hypertrichosis peripheral neuropathy
Chanarin-Dorfman syndrome
Char syndrome
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1C – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1D – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2B1 – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2B2 – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2D – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2E – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2F
Charcot-Marie-Tooth disease type 2G – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2H – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2I – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2J – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2K – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2N – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2O – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2P
Charcot-Marie-Tooth disease type 2Q – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 4A – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4B1 – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4C – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4D – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4E – See Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4H – See Charcot-Marie-Tooth disease
CHARGE syndrome
Charlie M syndrome
Chediak-Higashi syndrome
Cherubism
Chiari malformation type 2
Chiari malformation type 3
CHILD syndrome
Childhood apraxia of speech
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
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 acromesomelic with genital anomalies
Chondrodysplasia Blomstrand type
Chondrodysplasia calcificans metaphysealis
Chondrodysplasia punctata 1, X-linked recessive
Chondrodysplasia punctata Sheffield type
Chondrodysplasia with joint dislocations, GPAPP type
Chondrodysplasia, Grebe type
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 mosaicism
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 with lipodystrophy and elevated temperature
Chronic granulomatous disease
Chronic progressive external ophthalmoplegia
Chudley Rozdilsky syndrome
Chylomicron retention disease
Chylothorax, congenital
Chylous ascites
Circumferential skin creases Kunze type
Clark-Baraitser syndrome
Clasped thumbs, congenital
Classical-like Ehlers-Danlos syndrome
Cleft hand absent tibia
Cleft palate short stature vertebral anomalies
Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
Cleidocranial dysplasia
Cleidocranial dysplasia recessive form
Cleidorhizomelic syndrome
Clouston syndrome
CLOVES syndrome
COACH syndrome
COASY Protein-Associated Neurodegeneration
Coats disease
Cobb syndrome
Cockayne syndrome
Cockayne syndrome type I
Cockayne syndrome type II
Cockayne syndrome type III
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
Cold-induced sweating syndrome
Cole Carpenter syndrome
Collins Pope syndrome
Coloboma of alar-nasal cartilages with telecanthus
Coloboma of macula
Coloboma of macula with type B brachydactyly
Colpocephaly
Combined immunodeficiency with skin granulomas
Combined oxidative phosphorylation deficiency 16
Combined pituitary hormone deficiencies, genetic forms
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
Cone-rod dystrophy 3
Cone-rod dystrophy 5
Cone-rod dystrophy 6
Cone-rod dystrophy amelogenesis imperfecta
Cone-rod dystrophy X-linked 1
Cone-rod dystrophy X-linked 2
Cone-rod dystrophy X-linked 3
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, type 1
Congenital bile acid synthesis defect, type 2
Congenital central hypoventilation syndrome
Congenital chloride diarrhea
Congenital contractural arachnodactyly
Congenital cytomegalovirus
Congenital deafness with vitiligo and achalasia
Congenital diaphragmatic hernia
Congenital dyserythropoietic anemia type 1
Congenital dyserythropoietic anemia type 2
Congenital dyserythropoietic anemia type 3
Congenital ectodermal dysplasia with hearing loss
Congenital erythropoietic porphyria
Congenital extrahepatic portosystemic shunt
Congenital femoral deficiency
Congenital fiber type disproportion
Congenital fibrosis of extraocular muscles
Congenital generalized lipodystrophy
Congenital generalized lipodystrophy type 2 – See Congenital generalized lipodystrophy
Congenital generalized lipodystrophy type 4
Congenital heart block
Congenital hydrocephalus
Congenital hyperinsulinism
Congenital insensitivity to pain
Congenital insensitivity to pain with anhidrosis
Congenital intrauterine infection-like syndrome
Congenital lactase deficiency
Congenital laryngeal palsy
Congenital lipoid adrenal hyperplasia
Congenital lobar emphysema
Congenital microcoria
Congenital mirror movement disorder
Congenital muscular dystrophy due to LMNA mutation – See Congenital muscular dystrophy
Congenital muscular dystrophy type 1A
Congenital muscular dystrophy with integrin alpha-7 deficiency – See Congenital muscular dystrophy
Congenital muscular dystrophy-dystroglycanopathy with or without intellectual disability (type B)
Congenital myasthenic syndrome associated with acetylcholine receptor deficiency
Congenital myasthenic syndrome with episodic apnea
Congenital nephrotic syndrome Finnish type
Congenital primary aphakia
Congenital pseudoarthrosis
Congenital pulmonary alveolar proteinosis
Congenital pulmonary lymphangiectasia
Congenital rubella
Congenital sucrase-isomaltase deficiency
Congenital thrombotic thrombocytopenic purpura
Congenital toxoplasmosis – Not a rare disease
Congenital tracheal stenosis
Congenital tracheomalacia
Congenital varicella syndrome
Congenital vertical talus
Congenitally corrected transposition of the great arteries
Continuous spike-wave during slow sleep syndrome
Convulsions, benign familial infantile, 1
Copper deficiency, familial benign
Cor triatriatum dexter
Cor triatriatum sinister
Corneal dystrophy and perceptive deafness
Corneal dystrophy Avellino type
Corneal dystrophy crystalline of Schnyder
Corneal dystrophy Thiel Behnke type
Corneal endothelial dystrophy type 2
Corneal hypesthesia, familial
Cornelia de Lange syndrome
Corneodermatoosseous syndrome
Corpus callosum agenesis double urinary collecting
Cortical blindness-intellectual disability-polydactyly syndrome
Cortical defects wormian bones and dentinogenesis imperfecta
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Corticobasal degeneration
Corticosteroid-binding globulin deficiency
Costello syndrome
Cousin syndrome
Cowden syndrome
Crandall syndrome
Crane-Heise syndrome
Craniodiaphyseal dysplasia
Cranioectodermal dysplasia
Craniofacial deafness hand syndrome
Craniofacial dysostosis with diaphyseal hyperplasia
Craniofacial dyssynostosis
Craniofrontonasal dysplasia
Craniometaphyseal dysplasia, autosomal dominant
Craniometaphyseal dysplasia, autosomal recessive type
Craniopharyngioma
Craniorachischisis
Craniosynostosis
Craniosynostosis, anal anomalies, and porokeratosis
Craniotelencephalic dysplasia
Cri du chat syndrome
Crigler Najjar syndrome, type 1
Crigler-Najjar syndrome type 2
Crome syndrome
Cronkhite-Canada disease
Crouzon syndrome
Crumpled helices and small mouth
Cryptomicrotia brachydactyly syndrome
Cryptophthalmos
Culler-Jones syndrome
Curly hair-acral keratoderma-caries syndrome
Currarino triad
Curry Jones syndrome
Cutis laxa, autosomal dominant
Cutis laxa, autosomal recessive type 1
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 metatarsal type
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
Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
Dandy-Walker like malformation with atrioventricular septal defect
Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia
Dandy-Walker malformation with postaxial polydactyly
Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
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
DEAF1-associated disorders
Deafness and myopia syndrome
Deafness conductive ptosis skeletal anomalies
Deafness enamel hypoplasia nail defects
Deafness hypogonadism syndrome
Deafness oligodontia syndrome
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
Deafness, autosomal dominant nonsyndromic sensorineural 17
Deafness, autosomal dominant nonsyndromic sensorineural 22
Deafness, autosomal dominant nonsyndromic sensorineural 23
Deafness, autosomal dominant nonsyndromic sensorineural 24
Deafness, autosomal dominant nonsyndromic sensorineural 3
Deafness, autosomal dominant nonsyndromic sensorineural 53
Deafness, autosomal recessive 51
Deafness, dystonia, and cerebral hypomyelination
Deafness, epiphyseal dysplasia, short stature
Deafness, X-linked 2
Deafness-infertility syndrome
Deafness-lymphedema-leukemia syndrome
Deficiency of interleukin-1 receptor antagonist
Dehydrated hereditary stomatocytosis
Delayed membranous cranial ossification
Dementia familial British
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Dense deposit disease
Dentatorubral-pallidoluysian atrophy
Dentin dysplasia sclerotic bones
Dentin dysplasia, coronal
Dentin dysplasia, type 1
Dentinogenesis imperfecta
Dentinogenesis imperfecta type 2
Dentinogenesis imperfecta type 3
Denys-Drash syndrome
Dermatofibrosarcoma protuberans
Dermatoosteolysis Kirghizian type
Dermatopathia pigmentosa reticularis
Dermatosparaxis Ehlers-Danlos syndrome
Dermochondrocorneal dystrophy of François
Dermoodontodysplasia
Desbuquois syndrome
Desmoid tumor
Desmosterolosis
Devriendt syndrome
Dextrocardia
Dextrocardia with unusual facies and microphthalmia
DFNB1
Diabetes insipidus nephrogenic mental retardation and intracerebral calcification
Diamond-Blackfan anemia
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Diastrophic dysplasia
Dicarboxylic aminoaciduria
Dihydrolipoamide dehydrogenase deficiency
Dihydropteridine reductase deficiency
Dihydropyrimidinase deficiency
Dihydropyrimidine dehydrogenase deficiency – Not a rare disease
Dilated cardiomyopathy
Dilated cardiomyopathy with hypergonadotropic hypogonadism
Diphallia
Diploid-triploid mosaicism
Disseminated superficial actinic porokeratosis
Distal arthrogryposis type 1
Distal arthrogryposis type 5
Distal arthrogryposis type 5D – See Distal arthrogryposis
Distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies
Distal myopathy with vocal cord weakness
DK phocomelia syndrome
DOLK-CDG (CDG-Im)
Dominant dystrophic epidermolysis bullosa
Donnai-Barrow syndrome
DOOR syndrome
Dopa-responsive dystonia
Dopamine beta hydroxylase deficiency
Dopamine transporter deficiency syndrome
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 syndrome type 1
Duane syndrome type 2
Duane syndrome type 3
Duane-radial ray syndrome
Dubin-Johnson syndrome
Dubowitz syndrome
Duchenne muscular dystrophy
Duodenal atresia
Duplication of urethra
Dwarfism – Not a rare disease
Dwarfism familial with muscle spasms
Dwarfism Levi type
Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
Dwarfism, proportionate with hip dislocation
Dyggve-Melchior-Clausen syndrome
Dykes Markes Harper syndrome
Dyschondrosteosis nephritis
Dyschromatosis symmetrica hereditaria 1
Dyschromatosis universalis hereditaria
Dysequilibrium syndrome
Dysfibrinogenemia
Dyskeratosis congenita
Dyskeratosis congenita autosomal dominant
Dyskeratosis congenita autosomal recessive
Dyskeratosis congenita X-linked
Dysosteosclerosis
Dysplasia epiphysealis hemimelica
Dyssegmental dysplasia and glaucoma
Dyssegmental dysplasia Rolland-Desbuquois type
Dyssegmental dysplasia Silverman-Handmaker type
Dystelephalangy
Dystonia 2, torsion, autosomal recessive
DYT-PRKRA
DYT-THAP1
DYT-TOR1A
DYT-TUBB4A
DYT/PARK-GCH1
Early Infantile Epileptic Encephalopathy
Early infantile epileptic encephalopathy 25
Early-onset anterior polar cataract
Early-onset parkinsonism-intellectual disability syndrome
Early-onset zonular cataract
Early-onset, autosomal dominant Alzheimer disease
Ebstein’s anomaly
Ectodermal dysplasia
Ectodermal dysplasia skin fragility syndrome
Ectodermal dysplasia trichoodontoonychial type
Ectodermal dysplasia with natal teeth Turnpenny type
Ectodermal dysplasia, hidrotic, Christianson-Fourie type
Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
Ectropion inferior cleft lip and or palate
EEC syndrome
EEM syndrome
Ehlers-Danlos syndrome, dysfibronectinemic type
Eisenmenger syndrome
Elastosis perforans serpiginosa
Ellis Yale Winter syndrome
Ellis-Van Creveld syndrome
Emanuel syndrome
Emery-Dreifuss muscular dystrophy, X-linked
Encephalocele
Encephalocraniocutaneous lipomatosis
Encephalopathy due to prosaposin deficiency – See Sphingolipidosis
Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration
Epidermodysplasia verruciformis
Epidermolysa bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa simplex, localized
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa, lethal acantholytic
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Epilepsy juvenile absence
Epilepsy with myoclonic-atonic seizures
Epiphyseal dysplasia hearing loss dysmorphism
Epiphyseal dysplasia multiple with early-onset diabetes mellitus
Episodic ataxia with nystagmus
Ermine phenotype
Erythroderma lethal congenital
Erythrokeratoderma ”en cocardes”
Erythromelalgia
Erythropoietic protoporphyria
Erythropoietic uroporphyria associated with myeloid malignancy
Escher Hirt syndrome
Esophageal atresia
Ethylmalonic encephalopathy
Eunuchoidism familial hypogonadotropic
Exstrophy of the bladder
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 with severe mental and growth retardation
Familial amyloidosis, Finnish type
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 exudative vitreoretinopathy
Familial focal epilepsy with variable foci
Familial glucocorticoid deficiency
Familial HDL deficiency
Familial hemiplegic migraine
Familial hemiplegic migraine type 1
Familial hemiplegic migraine type 2
Familial hemiplegic migraine type 3
Familial hyperaldosteronism type 2
Familial hyperaldosteronism type III
Familial hyperthyroidism due to mutations in TSH receptor
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Familial joint instability syndrome
Familial LCAT deficiency
Familial lipoprotein lipase deficiency
Familial Mediterranean fever
Familial multiple lipomatosis
Familial osteochondritis dissecans
Familial pancreatic cancer
Familial partial lipodystrophy associated with PLIN1 mutations – See Familial partial lipodystrophy
Familial partial lipodystrophy associated with PPARG mutations
Familial partial lipodystrophy due to AKT2 mutations – See Familial partial lipodystrophy
Familial partial lipodystrophy type 2
Familial partial lipodystrophy type Köbberling
Familial platelet disorder with associated myeloid malignancy
Familial porencephaly
Familial progressive cardiac conduction defect
Familial prostate cancer
Familial reactive perforating collagenosis
Familial thoracic aortic aneurysm and dissection
Familial thyroglossal duct cyst
Familial visceral myopathy with external ophthalmoplegia
Familiar chronic mucocutaneous candidiasis – Not a rare disease
Fanconi anemia
Fanconi Bickel syndrome
Farber’s disease
Fatal familial insomnia
Fatty acid hydroxylase-associated neurodegeneration
Faye-Petersen-Ward-Carey syndrome
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
Feigenbaum Bergeron Richardson syndrome
Feingold syndrome
Femoral facial syndrome
Femur bifid with monodactylous ectrodactyly
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
FG syndrome 2
FG syndrome 3
Fibro-adipose vascular anomaly
Fibrochondrogenesis
Fibrodysplasia ossificans progressiva
Fibrous dysplasia
Fibular aplasia ectrodactyly
Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
Fibular hemimelia
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
Flynn Aird syndrome
Focal cortical dysplasia of Taylor
Focal dermal hypoplasia
Focal facial dermal dysplasia
Focal segmental glomerulosclerosis
Follicle-stimulating hormone deficiency, isolated
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
Frontonasal dysplasia with alopecia and genital anomaly – See Frontonasal dysplasia
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome – See Frontonasal dysplasia
Frontorhiny – See Frontonasal dysplasia
Frontotemporal dementia, ubiquitin-positive
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
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 – ophthalmoplegia – cardiovascular calcification – See Gaucher disease
Gaucher disease perinatal lethal
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
Gay Feinmesser Cohen syndrome
Geleophysic dwarfism
Gemignani syndrome
Generalized junctional epidermolysis bullosa, non-Herlitz type – See Junctional epidermolysis bullosa
Generalized pustular psoriasis
Genito palato cardiac syndrome
Genitopatellar syndrome
Genoa syndrome
Genochondromatosis
Genu valgum, st Helena familial
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 with distinctive facies
Gingival fibromatosis with hypertrichosis
Gitelman syndrome
Glanzmann thrombasthenia
Glaucoma sleep apnea
Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome
Globozoospermia
Glomerulonephritis with sparse hair and telangiectases
Glomerulopathy with fibronectin deposits 1
Glomerulopathy with fibronectin deposits 2
Glucocorticoid-remediable aldosteronism
Glucose transporter type 1 deficiency syndrome
Glucose-galactose malabsorption
Glutamate formiminotransferase deficiency
Glutamine deficiency, congenital
Glutaric acidemia type I
Glutaric acidemia type II
Glutaric acidemia type III
Glutathionuria
Glycine N-methyltransferase deficiency
Glycogen storage disease type 0, liver
Glycogen storage disease type 12
Glycogen storage disease type 13
Glycogen storage disease type 1A
Glycogen storage disease type 1B
Glycogen storage disease type 3
Glycogen storage disease type 4
Glycogen storage disease type 5
Glycogen storage disease type 6
Glycogen storage disease type 7
Glycoprotein VI deficiency
GM1 gangliosidosis type 1
GM1 gangliosidosis type 2
GM1 gangliosidosis type 3
GM3 synthase deficiency
GMS syndrome
Goldberg-Shprintzen megacolon syndrome
Goldenhar disease
Goldmann-Favre syndrome
Gomez Lopez Hernandez syndrome
Gordon syndrome
Gorham’s disease
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 type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Groll Hirschowitz syndrome
Growth hormone insensitivity with immunodeficiency
Grubben de Cock Borghgraef syndrome
GTP cyclohydrolase I deficiency
Guanidinoacetate methyltransferase deficiency
Guizar Vasquez Sanchez Manzano syndrome
Gurrieri syndrome
Gyrate atrophy of choroid and retina
Hailey-Hailey disease
Haim-Munk syndrome
Hair defect-photosensitivity-intellectual disability syndrome
Hairy elbows
Halal syndrome
Hall-Riggs syndrome
Hallermann-Streiff syndrome
Hamanishi Ueba Tsuji syndrome
Hand and foot deformity with flat facies
Hand foot uterus syndrome
Hanhart syndrome
Hard skin syndrome Parana type
Hardikar syndrome
Harding ataxia
Harlequin ichthyosis
Harlequin syndrome
Harrod Doman Keele syndrome
Hartnup disease
Hawkinsinuria
Heart defect-tongue hamartoma-polysyndactyly syndrome
Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Spanish type
HEC syndrome
Hemangioma thrombocytopenia syndrome
Hemangiomatosis, familial pulmonary capillary
Hemi 3 syndrome
Hemifacial hyperplasia strabismus
Hemifacial microsomia
Hemimegalencephaly
Hemiplegic migraine
Hemochromatosis type 2
Hemochromatosis type 3
Hemochromatosis type 4
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 with immunodeficiency
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 with spheroids
Hereditary elliptocytosis
Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis
Hereditary folate malabsorption
Hereditary fructose intolerance
Hereditary geniospasm
Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia type 2
Hereditary hemorrhagic telangiectasia type 3
Hereditary hemorrhagic telangiectasia type 4
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 palsies
Hereditary pancreatitis
Hereditary paraganglioma-pheochromocytoma
Hereditary proximal myopathy with early respiratory failure
Hereditary sensorimotor neuropathy with hyperelastic skin
Hereditary sensory and autonomic neuropathy type 1E
Hereditary sensory and autonomic neuropathy type 2
Hereditary sensory and autonomic neuropathy type 7
Hereditary sensory and autonomic neuropathy type V
Hereditary sensory neuropathy type 1
Hereditary spherocytosis
Hereditary vascular retinopathy
Hermansky Pudlak syndrome 2
Hermansky-Pudlak syndrome
Hernández-Aguirre Negrete syndrome
Herpes simplex encephalitis
Heterochromia iridis – Not a rare disease
Heterotaxy
HIBCH deficiency
High molecular weight kininogen deficiency
Hirschsprung disease type d brachydactyly
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 due to CBS deficiency
Homocystinuria due to MTHFR deficiency
Horizontal gaze palsy with progressive scoliosis
Hoyeraal Hreidarsson syndrome
Hunter Carpenter Macdonald syndrome
Hunter-McAlpine syndrome
Huntington disease
Hurler syndrome
Hurler–Scheie syndrome
Hutterite cerebroosteonephrodysplasia syndrome
Hyaline fibromatosis syndrome
Hydranencephaly
Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Hydrocephalus obesity hypogonadism
Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
Hydrocephalus-cleft palate-joint contractures syndrome
Hydroxykynureninuria
Hyper-IgD syndrome
Hyperbetaalaninemia
Hyperbilirubinemia transient familial neonatal
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 due to dehydratase deficiency
Hyperprolinemia
Hyperprolinemia type 2
Hypertelorism and tetralogy of Fallot
Hyperthermia induced defects
Hypertrichosis lanuginosa congenita
Hypertrophic neuropathy of Dejerine-Sottas
Hypertryptophanemia
Hypocalcemia, autosomal dominant
Hypochondroplasia
Hypofibrinogenemia, familial
Hypohidrotic ectodermal dysplasia autosomal recessive
Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
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-intellectual disability, Goldblatt type syndrome
Hypotelorism cleft palate hypospadias
Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
Hypotrichosis simplex
Hypotrichosis-lymphedema-telangiectasia syndrome
I cell disease
ICF syndrome
Ichthyosiform erythroderma, corneal involvement, deafness
Ichthyosis alopecia eclabion ectropion mental retardation
Ichthyosis bullosa of Siemens
Ichthyosis cheek eyebrow syndrome
Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis hystrix, Curth Macklin type
Ichthyosis lamellar 1
Ichthyosis lamellar 2
Ichthyosis lamellar 3
Ichthyosis lamellar, autosomal dominant
Ichthyosis prematurity syndrome
Ichthyosis tapered fingers midline groove up
Ichthyosis with hypotrichosis, autosomal recessive
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
Ichthyosis, mental retardation, dwarfism and renal impairment
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 type 1
Immunodeficiency with hyper IgM type 2
Immunodeficiency with hyper IgM type 3
Immunodeficiency with hyper IgM type 4
Immunodeficiency with hyper IgM type 5
Immunodysregulation, polyendocrinopathy and enteropathy X-linked
Imperforate oropharynx-costo vetebral anomalies
Inclusion body myopathy 2
Inclusion body myopathy 3
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
Incontinentia pigmenti
Infantile axonal neuropathy
Infantile cerebellar retinal degeneration
Infantile choroidocerebral calcification syndrome
Infantile convulsions and paroxysmal choreoathetosis, familial
Infantile histiocytoid cardiomyopathy
Infantile liver failure syndrome 1
Infantile myofibromatosis
Infantile neuroaxonal dystrophy
Infantile onset spinocerebellar ataxia
Infantile spasms broad thumbs
Infantile-onset ascending hereditary spastic paralysis
Infection-induced acute encephalopathy 3
Iniencephaly
Insulin-like growth factor 1 resistance to
Insulin-like growth factor I deficiency
Insulin-resistance type B
Intellectual deficit – short stature – hypertelorism
Intellectual deficit Buenos-Aires type
Intellectual disability – athetosis – microphthalmia
Intellectual disability – hypoplastic corpus callosum – preauricular tag
Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
Intellectual disability-developmental delay-contractures syndrome
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intellectual disability-spasticity-ectrodactyly syndrome
Intermediate congenital nemaline myopathy
Intermediate severe Salla disease – See Free sialic acid storage disease
Internal carotid agenesis
Intestinal atresia multiple
Intrauterine growth retardation with increased mitomycin C sensitivity
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 type 1A
Isolated growth hormone deficiency type 1B
Isolated growth hormone deficiency type 2
Isolated growth hormone deficiency type 3
Isotretinoin embryopathy like syndrome
Isovaleric acidemia
Ivemark syndrome
IVIC syndrome
Jackson-Weiss syndrome
Jacobsen syndrome
Jansen type metaphyseal chondrodysplasia
Jejunal atresia
Jejunal atresia with renal adysplasia
Jervell Lange-Nielsen syndrome
Jeune syndrome
Johanson-Blizzard syndrome
Johnson Munson syndrome
Johnson neuroectodermal syndrome
Johnston Aarons Schelley syndrome
Jones syndrome
Joubert syndrome
Joubert syndrome with oculorenal anomalies
Juberg Marsidi syndrome
Juberg-Hayward syndrome
Junctional epidermolysis bullosa generalized intermediate – See Epidermolysis bullosa
Junctional epidermolysis bullosa, Herlitz type – See Epidermolysis bullosa
Juvenile amyotrophic lateral sclerosis
Juvenile osteoporosis
Juvenile Paget disease
Juvenile polyposis syndrome
Juvenile primary lateral sclerosis
Juvenile retinoschisis
Juvenile-onset dystonia
Kabuki syndrome
Kallmann syndrome
Kallmann syndrome 1
Kallmann syndrome 2
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 type 1
Kenny-Caffey syndrome type 2
Keratitis, hereditary
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 lethal
Kniest-like dysplasia with pursed lips and ectopia lentis
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
Kozlowski-Krajewska syndrome
Kuskokwim disease
Kyphomelic dysplasia
Kyphoscoliotic Ehlers-Danlos syndrome
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 – See Epidermolysis bullosa
Larynx atresia
Larynx, congenital partial atresia of
Late-onset distal myopathy, Markesbery-Griggs type
Late-onset junctional epidermolysis bullosa – See Junctional epidermolysis bullosa
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Late-onset retinal degeneration
Lateral meningocele syndrome
Lateral semicircular canal malformation, familial, with external and middle ear abnormalities
Lathosterolosis
Lattice corneal dystrophy type 1
Laurence-Moon syndrome
Laurin-Sandrow syndrome
LCHAD deficiency
Le Marec Bracq Picaud syndrome
Leber congenital amaurosis
Leber congenital amaurosis 5 – See Leber congenital amaurosis
Leber hereditary optic neuropathy
Leber hereditary optic neuropathy with dystonia
Left ventricular noncompaction
Left-sided gallbladder
Legg-Calve-Perthes disease
Legius syndrome
Leigh syndrome
Leigh syndrome, French Canadian type
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 Moerman type
Lethal chondrodysplasia Seller type
Lethal congenital contracture syndrome 1
Lethal congenital contracture syndrome 2
Lethal congenital contracture syndrome 3 – See Lethal congenital contracture syndrome
Lethal short limb skeletal dysplasia Al Gazali type
Leukocyte adhesion deficiency type 1
Leukodystrophy
Leukoencephalopathy – dystonia – motor neuropathy
Leukoencephalopathy palmoplantar keratoderma
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Leukoencephalopathy with thalamus and brainstem involvement and high lactate
Leukoencephalopathy with vanishing white matter
Leukonychia totalis
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 type 1A
Limb-girdle muscular dystrophy type 1B
Limb-girdle muscular dystrophy type 1C – See Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 1D – See Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 1E – See Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 1F – See Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 1G – See Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 1H – See Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2B
Limb-girdle muscular dystrophy type 2E
Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy type 2I
Limb-girdle muscular dystrophy type 2J – See Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 2K – See Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 2L – See Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 2M – See Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 2N – See Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 2O – See Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 2P – See Limb-girdle muscular dystrophy type 1A
Limb-girdle muscular dystrophy type 2Q – See Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 2S – See Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy type 2T – See Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy, type 2C
Limb-girdle muscular dystrophy, type 2D
Limb-girdle muscular dystrophy, type 2G
Limb-mammary syndrome
Lin-Gettig syndrome
Linear and whorled nevoid hypermelanosis
Linear nevus sebaceous syndrome
LIPE-related familial partial lipodystrophy – See Familial partial lipodystrophy
Lipedema – Not a rare disease
Lipodystrophy due to peptidic growth factors deficiency
Lipodystrophy, familial partial, type 5 – See Familial partial lipodystrophy
Lipoic acid synthetase deficiency
Lipoid proteinosis of Urbach and Wiethe
Lissencephaly 2
Localized junctional epidermolysis bullosa, non-Herlitz type – See Junctional epidermolysis bullosa
Loeys-Dietz syndrome
Loeys-Dietz syndrome type 1
Loeys-Dietz syndrome type 2
Loeys-Dietz syndrome type 3
Loeys-Dietz syndrome type 4
Long QT syndrome 1
Loose anagen hair syndrome
Lopes Gorlin syndrome
Lowe oculocerebrorenal syndrome
Lowry Maclean syndrome
Lowry Wood syndrome
LRBA deficiency
Lubinsky syndrome
Lucey-Driscoll syndrome
Lujan syndrome
Lung agenesis
Lymphangioleiomyomatosis
Lymphedema and cerebral arteriovenous anomaly
Lymphedema, microcephaly and chorioretinopathy syndrome
Lymphedema-distichiasis syndrome
Lynch syndrome – Not a rare disease
Lysinuric protein intolerance
Mac Dermot Winter syndrome
Macrocephaly, benign familial
Macrocephaly-short stature-paraplegia syndrome
Macrodactyly of the foot
Macrodactyly of the hand
Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
Macroglossia
Macrosomia with lethal microphthalmia
Macrozoospermia
Macular dystrophy, corneal type 1
Macules hereditary congenital hypopigmented and hyperpigmented
Madokoro Ohdo Sonoda syndrome
Maffucci syndrome
Majeed syndrome
Male pseudohermaphroditism due to defective LH molecule
Male pseudohermaphroditism intellectual disability syndrome, Verloes type
Malignant Atrophic Papulosis
Malignant hyperthermia
Malignant hyperthermia arthrogryposis torticollis
Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 2
Malignant hyperthermia susceptibility type 3
Malignant hyperthermia susceptibility type 4
Malignant hyperthermia susceptibility type 5
Malignant hyperthermia susceptibility type 6
Malignant migrating partial seizures of infancy
Malonyl-CoA decarboxylase deficiency
MAN1B1-CDG
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Mandibulofacial dysostosis with microcephaly
Manitoba oculotrichoanal syndrome
Mannosidosis, beta A, lysosomal
Manouvrier syndrome
Marden Walker like syndrome
Marden-Walker syndrome
Marfan syndrome
Marfanoid habitus-autosomal recessive intellectual disability syndrome
Marie Unna congenital hypotrichosis
Marinesco-Sjogren syndrome
Marshall syndrome
Marshall-Smith syndrome
Martsolf syndrome
Mastocytosis cutaneous with short stature conductive hearing loss and microtia
Maternal hyperphenylalaninemia
Maternally inherited diabetes and deafness
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 1 – See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 2 – See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 3 – See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 4 – See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 5 – See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 6 – See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 7 – See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 8 – See Maturity-onset diabetes of the young
Maturity-onset diabetes of the young, type 9 – See Maturity-onset diabetes of the young
Maxillonasal dysplasia, Binder type
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 with polyps of facial skin and nasal mucosa
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-capillary malformation syndrome
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome
Megaloblastic anemia due to dihydrofolate reductase deficiency
Megalocornea – spherophakia – secondary glaucoma
Megalocornea-intellectual disability syndrome
Megarbane Jalkh syndrome
Megarbane syndrome
Mehes syndrome
Mehta Lewis Patton syndrome
Meier-Gorlin syndrome
Meige syndrome
Meleda disease
Melnick-Needles syndrome
Melorheostosis
Melorheostosis with osteopoikilosis
Meningocele
Menkes disease
Mental retardation skeletal dysplasia abducens palsy
Mental retardation Smith Fineman Myers type
Mental retardation X-linked syndromic 7
Mental retardation, keratoconus, febrile seizures, and sinoatrial block
Mental retardation, X-linked 14
Mesomelia-synostoses syndrome
Mesomelic dwarfism cleft palate camptodactyly
Mesomelic dwarfism of hypoplastic tibia and radius type
Mesomelic dysplasia Kantaputra type
Mesomelic dysplasia Savarirayan type
Metacarpals 4 and 5 fusion
Metachondromatosis
Metaphyseal acroscyphodysplasia
Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Spahr type
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Metaphyseal dysplasia maxillary hypoplasia brachydactyly
Metaphyseal dysplasia without hypotrichosis
Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
Metatropic dysplasia
Methemoglobinemia, beta-globin type
Methimazole antenatal exposure
Methionine adenosyltransferase deficiency
Methylcobalamin deficiency cbl G type
Methylmalonic acidemia and homocysteinemia type cblX
Methylmalonic acidemia with homocystinuria type cblC
Methylmalonic acidemia with homocystinuria type cblD
Methylmalonic acidemia with homocystinuria type cblF
Methylmalonic acidemia with homocystinuria type cblJ
Methylmalonic aciduria, cblA type
Methylmalonic aciduria, cblB type
Mevalonic aciduria
MGAT2-CDG (CDG-IIa)
Michels Caskey syndrome
Micro syndrome
Microbrachycephaly ptosis cleft lip
Microcephalic osteodysplastic primordial dwarfism type 1
Microcephalic osteodysplastic primordial dwarfism type 2
Microcephalic primordial dwarfism Toriello type
Microcephalic primordial dwarfism, Montreal type
Microcephaly autosomal dominant
Microcephaly brain defect spasticity hypernatremia
Microcephaly cervical spine fusion anomalies
Microcephaly deafness syndrome
Microcephaly glomerulonephritis Marfanoid habitus
Microcephaly microcornea syndrome Seemanova type
Microcephaly micropenis convulsions
Microcephaly microphthalmos blindness
Microcephaly nonsyndromal
Microcephaly, seizures, and developmental delay – See Early Infantile Epileptic Encephalopathy
Microcephaly-albinism-digital anomalies syndrome
Microcephaly-cardiomyopathy
Microcystic lymphatic malformation
Microduplication Xp11.22-p11.23 syndrome
Microgastria limb reduction defect
Microhydranencephaly
Microphthalmia associated with colobomatous cyst
Microphthalmia syndromic 10
Microphthalmia syndromic 4
Microphthalmia syndromic 5
Microphthalmia syndromic 6
Microphthalmia syndromic 8
Microphthalmia syndromic 9
Microphthalmia with linear skin defects syndrome
Microsomia hemifacial radial defects
Microtia eye coloboma and imperforation of the nasolacrimal duct
Microtia, meatal atresia and conductive deafness
Microtia-Anotia
Microvillus inclusion disease
Midphalangeal hair
Mild phenylketonuria
Miller syndrome
Miller-Dieker syndrome
Milner Khallouf Gibson syndrome
Milroy disease
Minicore myopathy with external ophthalmoplegia
Minicore myopathy, antenatal onset, with arthrogryposis
Mitochondrial complex I deficiency
Mitochondrial complex II deficiency
Mitochondrial complex III deficiency
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial DNA-associated Leigh syndrome
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
Mitochondrial genetic disorders
Mitochondrial Membrane Protein-Associated Neurodegeneration
Mitochondrial myopathy with diabetes
Mitochondrial myopathy with lactic acidosis
Mitochondrial neurogastrointestinal encephalopathy syndrome
Mitochondrial trifunctional protein deficiency
Mitral atresia
Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
Mitral valve prolapse, familial, autosomal dominant
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
Morning glory syndrome
Morse-Rawnsley-Sargent syndrome
Mosaic trisomy 14
Mosaic trisomy 22
Mosaic trisomy 8
Mosaic trisomy 9
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 mitochondrial DNA depletion syndrome
Muckle-Wells syndrome
Mucolipidosis III alpha/beta
Mucolipidosis type 4
Mucopolysaccharidosis type III
Mucopolysaccharidosis type IIIA
Mucopolysaccharidosis type IIIB
Mucopolysaccharidosis type IIIC
Mucopolysaccharidosis type IIID
Mucopolysaccharidosis type IV
Mucopolysaccharidosis type IVA
Mucopolysaccharidosis type VII
Muenke Syndrome
Muir-Torre syndrome
Mulibrey Nanism
Muller Barth Menger syndrome
Multicentric carpotarsal osteolysis syndrome
Multicentric osteolysis nephropathy
Multicystic renal dysplasia, bilateral
Multiple café-au-lait spots
Multiple congenital anomalies-hypotonia-seizures syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple epiphyseal dysplasia 1
Multiple epiphyseal dysplasia 2
Multiple epiphyseal dysplasia 3
Multiple epiphyseal dysplasia 4
Multiple epiphyseal dysplasia 5
Multiple familial trichoepithelioma
Multiple familial trichoepithelioma 1 – See Multiple familial trichoepithelioma
Multiple familial trichoepithelioma 2 – See Multiple familial trichoepithelioma
Multiple fibrofolliculoma familial
Multiple pterygium syndrome Escobar type
Multiple pterygium syndrome lethal type
Multiple pterygium syndrome X-linked
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 retinitis pigmentosa and diabetes mellitus
Muscular dystrophy white matter spongiosis
Muscular dystrophy, congenital, megaconial type
Muscular phosphorylase kinase deficiency
Musculocontractural Ehlers-Danlos syndrome
MYD88 deficiency
Myelocerebellar disorder
MYH7-related scapuloperoneal myopathy
Myhre syndrome
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 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
NBIA/DYT/PARK-PLA2G6
Neonatal adrenoleukodystrophy
Neonatal hemochromatosis
Neonatal intrahepatic cholestasis caused by citrin deficiency
Neonatal Onset Multisystem Inflammatory disease
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
Neurofaciodigitorenal syndrome
Neuroferritinopathy
Neurofibromatosis type 2
Neurofibromatosis-Noonan syndrome
Neuronal ceroid lipofuscinosis 10
Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis 5
Neuronal ceroid lipofuscinosis 6
Neuronal ceroid lipofuscinosis 7
Neuronal ceroid lipofuscinosis 9
Neuronal intranuclear inclusion disease
Neuropathy ataxia retinitis pigmentosa syndrome
Neuropathy, congenital, with arthrogryposis multiplex
Neuropathy, distal hereditary motor, Jerash type
Neuropathy, hereditary motor and sensory, Okinawa type
Neuropathy, hereditary motor and sensory, Russe type
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 type A
Niemann-Pick disease type B
Niemann-Pick disease type C1
Niemann-Pick disease type C2
Nievergelt syndrome
Night blindness-skeletal anomalies-dysmorphism syndrome
Nijmegen breakage syndrome
Non-involuting congenital hemangioma
Nonbullous congenital ichthyosiform erythroderma
Nonspherocytic hemolytic anemia due to hexokinase deficiency
Nonsyndromic hereditary sensorineural hearing loss
Noonan syndrome
Noonan syndrome 1 – See Noonan syndrome
Noonan syndrome 2 – See Noonan syndrome
Noonan syndrome 3 – See Noonan syndrome
Noonan syndrome 4 – See Noonan syndrome
Noonan syndrome 5 – See Noonan syndrome
Noonan syndrome 6 – See Noonan syndrome
Noonan-like syndrome with loose anagen hair
Norrie disease
North Carolina macular dystrophy
Northern epilepsy
Not otherwise specified 3-MGA-uria type
Obesity due to congenital leptin deficiency
Occipital horn syndrome
Ochoa syndrome
Ocular albinism type 1
Oculo skeletal renal syndrome
Oculoauriculofrontonasal syndrome
Oculocerebral syndrome with hypopigmentation
Oculocerebrocutaneous syndrome
Oculocutaneous albinism type 1
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 2
Oculocutaneous albinism type 3
Oculodentodigital dysplasia
Oculoectodermal syndrome
Oculofaciocardiodental syndrome
Oculomaxillofacial dysostosis
Oculomotor apraxia Cogan type
Oculopharyngeal muscular dystrophy
Oculopharyngodistal myopathy
Oculorenocerebellar syndrome
Odonto onycho dysplasia with alopecia
Odontoma dysphagia syndrome
Odontomicronychial dysplasia
Odontoonychodermal dysplasia
Odontotrichomelic syndrome
Oguchi disease
Okamoto syndrome
Oligodactyly tetramelic postaxial
Oligomeganephronic renal hypoplasia
Oliver syndrome
Olivopontocerebellar atrophy deafness
Ollier disease
Olmsted syndrome
Omenn syndrome
Omodysplasia 1
Omodysplasia 2
Omphalocele cleft palate syndrome lethal
Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex
Omphalomesenteric cyst
Onychodystrophy-anonychia
Onychotrichodysplasia and neutropenia
OPA3 defect
OPHN1 syndrome
Opsismodysplasia
Optic atrophy 1
Optic atrophy 1 and deafness
Optic atrophy 2
Optic atrophy polyneuropathy deafness
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency syndrome
Orofaciodigital syndrome 1
Orofaciodigital syndrome 10
Orofaciodigital syndrome 11
Orofaciodigital syndrome 12
Orofaciodigital syndrome 13
Orofaciodigital syndrome 2
Orofaciodigital syndrome 3
Orofaciodigital syndrome 4
Orofaciodigital syndrome 5
Orofaciodigital syndrome 6
Orofaciodigital syndrome 8
Orofaciodigital syndrome 9
Orofaciodigital syndromes
Orotic aciduria type 1
Orthostatic intolerance due to NET deficiency
Oslam syndrome
OSMED Syndrome
Ossicular Malformations, familial
Osteoarthropathy of fingers familial
Osteodysplasia familial Anderson type
Osteofibrous dysplasia
Osteogenesis imperfecta
Osteogenesis imperfecta Levin type
Osteogenesis imperfecta type I
Osteogenesis imperfecta type II
Osteogenesis imperfecta type III
Osteogenesis imperfecta type IV
Osteogenesis imperfecta type IX
Osteogenesis imperfecta type V
Osteogenesis imperfecta type VI
Osteogenesis imperfecta type VII
Osteogenesis imperfecta type VIII
Osteoglophonic dysplasia
Osteolysis syndrome recessive
Osteomesopyknosis
Osteopathia striata cranial sclerosis
Osteopathia striata with pigmentary dermopathy including white forelock
Osteopenia and sparse hair
Osteopetrosis
Osteopetrosis and infantile neuroaxonal dystrophy
Osteopetrosis autosomal dominant type 1
Osteopetrosis autosomal dominant type 2
Osteopetrosis autosomal recessive 1
Osteopetrosis autosomal recessive 2
Osteopetrosis autosomal recessive 3
Osteopetrosis autosomal recessive 4
Osteopetrosis autosomal recessive 5
Osteopetrosis autosomal recessive 6
Osteopetrosis autosomal recessive 7
Osteopoikilosis and dacryocystitis
Osteoporosis oculocutaneous hypopigmentation syndrome
Osteoporosis-pseudoglioma syndrome
Ostium secundum atrial septal defect
Oto-palato-digital syndrome type 1
Oto-palato-digital syndrome type 2
Otodental dysplasia
Otofaciocervical syndrome
Otoonychoperoneal syndrome
Ouvrier Billson syndrome
Overhydrated hereditary stomatocytosis
Pachydermoperiostosis
Pachygyria
Pachygyria, frontotemporal
Pachygyria-intellectual disability-epilepsy syndrome
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
Panhypopituitarism X-linked
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 type 9
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
Paternal uniparental disomy of chromosome 14
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, aphthous stomatitis, pharyngitis and adenitis
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
Pfeiffer-type cardiocranial 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
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
Pierson syndrome
Pili annulati
Pili torti
Pili torti developmental delay neurological abnormalities
Pillay syndrome
Pilodental dysplasia with refractive errors
Pinheiro Freire-Maia Miranda syndrome
Pitt-Hopkins syndrome
Pitt-Hopkins-like syndrome
Pituitary dwarfism with large sella turcica
Pituitary hormone deficiency, combined 3
Pituitary hormone deficiency, combined 4
Pituitary stalk interruption syndrome
Pityriasis rubra pilaris
Plagiocephaly
Plasminogen activator inhibitor type 1 deficiency
Platyspondylic lethal skeletal dysplasia Torrance type
PMM2-CDG (CDG-Ia)
Poikiloderma with neutropenia
Poland syndrome
POLR3-Related Leukodystrophy
Polycystic kidney disease – Not a rare disease
Polycystic kidneys, severe infantile with tuberous sclerosis
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Polycystic liver disease
Polydactyly
Polydactyly myopia syndrome
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
Polyosteolysis/hyperostosis syndrome
Polyostotic osteolytic dysplasia, hereditary expansile
Polysyndactyly cardiac malformation
Pontine tegmental cap dysplasia
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 3
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 6
Popliteal pterygium syndrome
Popliteal pterygium syndrome, Bartsocas-Papas type
Porokeratosis of Mibelli
Porokeratosis, disseminated superficial actinic 2
Porphyria cutanea tarda
Posterior column ataxia with retinitis pigmentosa
Postnatal progressive microcephaly, seizures, and brain atrophy
Potassium aggravated myotonia
Potato nose
Potocki-Lupski syndrome
Potocki-Shaffer syndrome
Potter sequence
PPM-X syndrome
Prader-Willi habitus, osteopenia, and camptodactyly
Prader-Willi syndrome
Preaxial deficiency, postaxial polydactyly and hypospadias
Preaxial polydactyly type 1
Preaxial polydactyly type 2
Preaxial polydactyly type 3
Preaxial polydactyly type 4
Prekallikrein deficiency, congenital
Pretibial epidermolysis bullosa
Primary angiitis of the central nervous system
Primary basilar impression
Primary carnitine deficiency
Primary ciliary dyskinesia
Primary familial and congenital polycythemia
Primary Familial Brain Calcification
Primary Fanconi syndrome
Primary hyperoxaluria type 1
Primary hyperoxaluria type 2
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, autosomal recessive 1
Progressive familial heart block type 1A
Progressive familial heart block type 1B
Progressive familial heart block type 2
Progressive familial intrahepatic cholestasis 1
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
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
Prothrombin deficiency
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 type 2
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type 2
Pseudohypoparathyroidism with Albright hereditary osteodystrophy
Pseudoneonatal adrenoleukodystrophy
Pseudoprogeria syndrome
Pseudopseudohypoparathyroidism
Pseudotrisomy 13 syndrome
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
Pterygium colli mental retardation digital anomalies
Ptosis strabismus ectopic pupils
Pulmonary alveolar microlithiasis
Pulmonary arterio-veinous fistula
Pulmonary atresia with intact ventricular septum
Pulmonary atresia with ventricular septal defect
Pulmonary vein stenosis
Pulmonary venoocclusive disease
Punctate palmoplantar keratoderma type 2
Punctate palmoplantar keratoderma type I
Purine nucleoside phosphorylase deficiency
Pustulosis palmaris et plantaris
Pycnodysostosis
Pyknoachondrogenesis
Pyle disease
Pyogenic arthritis, pyoderma gangrenosum and acne
Pyramidal molars-abnormal upper lip syndrome
Pyridoxal 5′-phosphate-dependent epilepsy
Pyridoxine-dependent epilepsy
Pyropoikilocytosis hereditary
Pyruvate dehydrogenase phosphatase deficiency
Pyruvate kinase deficiency
Qazi Markouizos syndrome
Quebec platelet disorder
Rabson-Mendenhall syndrome
Radial defect Robin sequence
Radial ray agenesis
Radial ray hypoplasia choanal atresia
Radio renal syndrome
Radioulnar synostosis-microcephaly-scoliosis syndrome
Radius absent anogenital anomalies
Raine syndrome
Ramon Syndrome
Ramos Arroyo Clark syndrome
Rapadilino syndrome
Rapid-onset dystonia-parkinsonism
Rasmussen Johnsen Thomsen syndrome
Reardon Wilson Cavanagh syndrome
Recessive dystrophic epidermolysis bullosa-generalized other
Recombinant chromosome 8 syndrome
Reducing body myopathy
Refsum disease
Refsum disease, infantile form
Renal agenesis
Renal coloboma syndrome
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Renal dysplasia-limb defects syndrome
Renal glycosuria
Renal hypomagnesemia 2
Renal hypomagnesemia-6
Renal hypouricemia
Renal tubular acidosis with deafness
Renal tubular acidosis, distal, autosomal dominant
Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
Renier Gabreels Jasper syndrome
Renpenning syndrome 1
Reticular dysgenesis
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
Retinal cone dystrophy 1
Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma
Retinal vasculopathy with cerebral leukodystrophy
Retinitis pigmentosa
Retinitis pigmentosa-deafness syndrome
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
Retinopathy pigmentary mental retardation
Rett syndrome
Revesz syndrome
RFT1-CDG (CDG-In)
Rh deficiency syndrome
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2 – See Rhizomelic chondrodysplasia punctata
Rhizomelic dysplasia Patterson Lowry type
Rhizomelic syndrome
RHYNS syndrome
Riboflavin transporter deficiency
Richards-Rundle syndrome
Richieri Costa Da Silva 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
Sabinas brittle hair syndrome – See Trichothiodystrophy
Saccharopinuria
Sacral hemangiomas multiple congenital abnormalities
Sacral meningocele conotruncal heart defects
Saethre-Chotzen syndrome
Saito Kuba Tsuruta syndrome
Sakoda complex
Salcedo syndrome
Salla disease – See Free sialic acid storage 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, neurogenic, Kaeser type
SCARF syndrome
Schaaf-Yang syndrome
Schaap Taylor Baraitser syndrome
Schaefer Stein Oshman syndrome
Scheie syndrome
Scheuermann disease
Schimke immunoosseous dysplasia
Schindler disease type 1
Schinzel Giedion syndrome
Schisis association
Schizencephaly
Schneckenbecken dysplasia
Scholte syndrome
Schrander-Stumpel Theunissen Hulsmans syndrome
Schwannomatosis
Schwartz Jampel syndrome
Sclerosteosis
SCOT deficiency
Scott Bryant Graham syndrome
Scott syndrome
Sea-Blue histiocytosis
Seaver Cassidy syndrome
Sebaceous gland hyperplasia, familial presenile
Seckel like syndrome Majoor-Krakauer type
Seckel syndrome
Segmentation syndrome 1
Selective IgM deficiency
Semantic dementia
Sengers syndrome
Senior Loken Syndrome
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Sepiapterin reductase deficiency
Septo-optic dysplasia spectrum
Seres-Santamaria Arimany Muniz syndrome
SERKAL syndrome
SeSAME syndrome
SETBP1 disorder
Severe achondroplasia with developmental delay and acanthosis nigricans
Severe combined immunodeficiency
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Severe congenital nemaline myopathy
Severe congenital neutropenia autosomal recessive 3
Severe congenital neutropenia X-linked
Severe generalized recessive dystrophic epidermolysis bullosa
Severe intellectual disability-progressive spastic diplegia syndrome
Severe X-linked intellectual disability, Gustavson type
Sheldon-Hall syndrome
Short limb dwarf lethal Colavita Kozlowski type
Short rib-polydactyly syndrome type 3
Short rib-polydactyly syndrome type 1
Short rib-polydactyly syndrome type 4
Short rib-polydactyly syndrome, Majewski type
Short stature deafness neutrophil dysfunction
Short stature syndrome, Brussels type
Short stature wormian bones dextrocardia
Short stature-craniofacial anomalies-genital hypoplasia syndrome
SHORT syndrome
Short-chain acyl-CoA dehydrogenase deficiency
Short-limb skeletal dysplasia with severe combined immunodeficiency
Shoulder girdle defect mental retardation familial
Shprintzen omphalocele syndrome
Shprintzen-Goldberg craniosynostosis syndrome
Shwachman-Diamond syndrome
Sialidosis type I
Sialidosis, type II
Sialuria, French type
Sickle beta thalassemia
Sickle cell – hemoglobin D disease
Sickle cell anemia
Sideroblastic anemia and mitochondrial myopathy
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
Situs inversus totalis with cystic dysplasia of kidneys and pancreas
Sjogren-Larsson syndrome
Skeletal dysplasia, San Diego type
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 Charlevoix-Saguenay type
Spastic paraplegia 1
Spastic paraplegia 10
Spastic paraplegia 11
Spastic paraplegia 12
Spastic paraplegia 13
Spastic paraplegia 14
Spastic paraplegia 15
Spastic paraplegia 16
Spastic paraplegia 17
Spastic paraplegia 18
Spastic paraplegia 19
Spastic paraplegia 2
Spastic paraplegia 23
Spastic paraplegia 24
Spastic paraplegia 25
Spastic paraplegia 26
Spastic paraplegia 29
Spastic paraplegia 3
Spastic paraplegia 31
Spastic paraplegia 32
Spastic paraplegia 4
Spastic paraplegia 51
Spastic paraplegia 5A
Spastic paraplegia 6
Spastic paraplegia 7
Spastic paraplegia 8
Spastic paraplegia 9
Spastic paraplegia facial cutaneous lesions
Spastic paraplegia-epilepsy-intellectual disability syndrome
Spastic paraplegia-glaucoma-intellectual disability syndrome
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Specific antibody deficiency
Spina bifida
Spinal atrophy ophthalmoplegia pyramidal syndrome
Spinal muscular atrophy 1
Spinal muscular atrophy type 2
Spinal muscular atrophy type 3
Spinocerebellar ataxia 1
Spinocerebellar ataxia 10
Spinocerebellar ataxia 11
Spinocerebellar ataxia 12
Spinocerebellar ataxia 13
Spinocerebellar ataxia 14
Spinocerebellar ataxia 15
Spinocerebellar ataxia 17
Spinocerebellar ataxia 18
Spinocerebellar ataxia 19 and 22
Spinocerebellar ataxia 2
Spinocerebellar ataxia 20
Spinocerebellar ataxia 21
Spinocerebellar ataxia 23
Spinocerebellar ataxia 25
Spinocerebellar ataxia 26
Spinocerebellar ataxia 27
Spinocerebellar ataxia 28
Spinocerebellar ataxia 29
Spinocerebellar ataxia 31
Spinocerebellar ataxia 34
Spinocerebellar ataxia 4
Spinocerebellar ataxia 5
Spinocerebellar ataxia 7
Spinocerebellar ataxia 8
Spinocerebellar ataxia autosomal recessive 3
Spinocerebellar ataxia autosomal recessive 4
Spinocerebellar ataxia autosomal recessive 5
Spinocerebellar ataxia autosomal recessive 7
Spinocerebellar ataxia autosomal recessive 8
Spinocerebellar ataxia autosomal recessive with axonal neuropathy
Spinocerebellar ataxia type 6
Spinocerebellar ataxia with dysmorphism
Spinocerebellar ataxia X-linked type 3
Spinocerebellar ataxia X-linked type 4
Spinocerebellar degeneration and corneal dystrophy
Splenogonadal fusion limb defects micrognatia
Split hand foot malformation
Split hand foot malformation 1
Split hand split foot nystagmus
Split hand urinary anomalies spina bifida
Split spinal cord malformation
Spondylocamptodactyly
Spondylocarpotarsal synostosis syndrome
Spondylocostal dysostosis 1 – See Spondylocostal dysostosis
Spondylocostal dysostosis 2 – See Spondylocostal dysostosis
Spondylocostal dysostosis 3 – See Spondylocostal dysostosis
Spondylocostal dysostosis 4 – See Spondylocostal dysostosis
Spondylocostal dysostosis 5 – See Spondylocostal dysostosis
Spondylocostal dysostosis 6 – See Spondylocostal dysostosis
Spondylodysplastic Ehlers-Danlos syndrome
Spondyloenchondrodysplasia
Spondyloepimetaphyseal dysplasia Genevieve type
Spondyloepimetaphyseal dysplasia joint laxity
Spondyloepimetaphyseal dysplasia Matrilin-3 related
Spondyloepimetaphyseal dysplasia micromelic
Spondyloepimetaphyseal dysplasia Missouri type
Spondyloepimetaphyseal dysplasia Shohat type
Spondyloepimetaphyseal dysplasia Sponastrime type
Spondyloepimetaphyseal dysplasia Strudwick type
Spondyloepimetaphyseal dysplasia with hypotrichosis
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia X-linked
Spondyloepimetaphyseal dysplasia x-linked with mental deterioration
Spondyloepimetaphyseal dysplasia, Aggrecan type
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia Maroteaux type
Spondyloepiphyseal dysplasia tarda X-linked
Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
Spondylometaepiphyseal dysplasia short limb-hand type
Spondylometaphyseal dysplasia Algerian type
Spondylometaphyseal dysplasia corner fracture type
Spondylometaphyseal dysplasia East-African type
Spondylometaphyseal dysplasia Sedaghatian type
Spondylometaphyseal dysplasia type A4
Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
Spondylometaphyseal dysplasia with cone-rod dystrophy
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Spondylometaphyseal dysplasia X-linked
Spondylometaphyseal dysplasia, Kozlowski type
Spondyloperipheral dysplasia
Spondylospinal thoracic dysostosis
Spondylothoracic dysostosis
Sprengel deformity
SRD5A3-CDG (CDG-Iq)
SSR4-CDG
Stalker Chitayat syndrome
STAR syndrome
Stargardt disease
Steatocystoma multiplex
Steatocystoma multiplex with natal teeth
Steinfeld syndrome
Sternal cleft
Stickler syndrome
Stickler syndrome type 1
Stickler syndrome, type 2
Stickler syndrome, type 3
Stiff person syndrome
Stiff skin syndrome
Stocco dos Santos syndrome
Stoll Alembik Finck syndrome
Striatonigral degeneration infantile
Sturge-Weber syndrome
Stuve-Wiedemann syndrome
Subaortic stenosis short stature syndrome
Subcortical band heterotopia
Succinic semialdehyde dehydrogenase deficiency
Sudden infant death with dysgenesis of the testes syndrome
Sugarman brachydactyly
Supernumerary nipple – Not a rare disease
Supraumbilical midabdominal raphe and facial cavernous hemangiomas
Supravalvular aortic stenosis
Swyer syndrome
Symphalangism with multiple anomalies of hands and feet
Syndactyly Cenani Lenz type
Syndactyly type 1
Syndactyly type 3
Syndactyly type 5
Syndactyly type 9
Syndactyly-polydactyly-earlobe syndrome
Syndromic microphthalmia, type 3
Syngnathia cleft palate
Syngnathia multiple anomalies
Synovial chondromatosis, familial with dwarfism
Syringomyelia
T-cell immunodeficiency, congenital alopecia and nail dystrophy
Tabatznik syndrome
Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
Talonavicular coalition
Tangier disease
TANGO2-Related Metabolic Encephalopathy and Arrhythmias
TAR syndrome
Tardive dyskinesia – Not a rare disease
TARP syndrome
Tarsal carpal coalition syndrome
Taurodontia, absent teeth, sparse hair syndrome
Taurodontism
Taurodontism, microdontia, and dens invaginatus
Teebi Naguib Al Awadi syndrome
Teebi Shaltout syndrome
Teeth noneruption of with maxillary hypoplasia and genu valgum
Tel Hashomer camptodactyly syndrome
Telfer Sugar Jaeger syndrome
Temple syndrome
Temple-Baraitser syndrome
Temporal epilepsy, familial
Temtamy preaxial brachydactyly syndrome
Temtamy syndrome
Tendons, extensor, of fingers, anomalous insertion of
Testotoxicosis
Tethered cord syndrome
Tetra-amelia syndrome
Tetraamelia multiple malformations X-linked
Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
Tetraamelia with pulmonary hypoplasia
Tetralogy of Fallot
Tetralogy of fallot and glaucoma
Tetramelic monodactyly
Tetraploidy
Tetrasomy 21
Tetrasomy 9p
Tetrasomy X
Thai symphalangism syndrome
Thakker-Donnai syndrome
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Thiamine responsive megaloblastic anemia syndrome
Thiopurine S methyltranferase deficiency
Thomas syndrome
Thompson Baraitser syndrome
Thoracic dysplasia hydrocephalus syndrome
Thoraco abdominal enteric duplication
Thoracolaryngopelvic dysplasia
Thoracomelic dysplasia
Thrombocytopathy asplenia miosis
Thumb deformity
Thumb deformity, alopecia, pigmentation anomaly
Thumb stiff brachydactyly mental retardation
Thymic-Renal-Anal-Lung dysplasia
Thyroid dysgenesis
Tibia absent polydactyly arachnoid cyst
Tietz syndrome
Tight skin contracture syndrome, lethal
Timothy syndrome
TMEM165-CDG (CDG-IIk)
Tollner Horst Manzke syndrome
Tolosa Hunt syndrome
Tonoki syndrome
Toriello-Carey syndrome
Torticollis keloids cryptorchidism renal dysplasia
Total Hypotrichosis, Mari type
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
Treacher Collins syndrome 3
Tricho-dento-osseous syndrome
Trichodental syndrome
Trichohepatoenteric syndrome
Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
Trichorhinophalangeal syndrome type 1
Trichorhinophalangeal syndrome type 2
Trichorhinophalangeal syndrome type 3
Trichothiodystrophy
Tricuspid atresia
Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
Trigonocephaly bifid nose acral anomalies
Triosephosphate isomerase deficiency
Triphalangeal thumbs brachyectrodactyly
Triple A syndrome
Triploidy
Trismus-pseudocamptodactyly syndrome
Trisomy 13
Trisomy 17 mosaicism
Trisomy 18
Trisomy 2 mosaicism
Trisomy 3 mosaicism
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 with esophageal cancer
Type 1 plasminogen deficiency
Typical congenital nemaline myopathy
Tyrosine hydroxylase deficiency
Tyrosine-oxidase temporary deficiency
Tyrosinemia type 1
Tyrosinemia type 2
Tyrosinemia type 3
Ulerythema ophryogenesis
Ullrich congenital muscular dystrophy
Ulna and fibula, hypoplasia of
Ulna hypoplasia-intellectual disability syndrome
Ulna metaphyseal dysplasia syndrome
Ulnar hypoplasia lobster claw deformity of feet
Ulnar-mammary syndrome
Uncombable hair syndrome
Unverricht-Lundborg disease
Upington disease
Urachal cyst
Urogenital adysplasia
Uropathy distal obstructive polydactyly
Usher syndrome type 2A
Usher syndrome, type 1
UV sensitive syndrome
VACTERL association
VACTERL association with hydrocephaly, X-linked
VACTERL hydrocephaly
Vagina, absence of
Vagneur Triolle Ripert syndrome
Van Benthem-Driessen-Hanveld syndrome
Van Buchem disease type 2
Van Den Bosch syndrome
Van der Woude syndrome
Van der Woude syndrome 2
Variegate porphyria
Vascular Ehlers-Danlos syndrome
Vascular hyalinosis
Vein of Galen aneurysm
Ventricular extrasystoles with syncopal episodes – perodactyly – Robin sequence
Verloes Bourguignon syndrome
Verloes Van Maldergem Marneffe syndrome
Verloove Vanhorick Brubakk syndrome
Vibratory urticaria
Vici syndrome
Viljoen Kallis Voges syndrome
VLCAD deficiency
Vocal cord dysfunction familial
Vohwinkel syndrome
Von Hippel-Lindau disease
Waardenburg syndrome type 1
Waardenburg syndrome type 2
Waardenburg syndrome type 3
Waardenburg syndrome type 4
Wagner syndrome
WAGR syndrome
Walker-Warburg syndrome
Warfarin syndrome
Warman Mulliken Hayward syndrome
Weaver syndrome
Weill-Marchesani syndrome
Weissenbacher-Zweymuller syndrome
Welander distal myopathy, Swedish type
Wells-Jankovic syndrome
Werner syndrome
West syndrome
Weyers acrofacial dysostosis
Weyers ulnar ray/oligodactyly syndrome
WHIM syndrome
Whistling face syndrome, recessive form
White forelock with malformations
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
White sponge nevus of cannon
Wiedemann Oldigs Oppermann syndrome
Wildervanck syndrome
Williams syndrome
Wilms’ tumor
Wilson disease
Wilson-Turner syndrome
Winchester 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 hypotrichosis everted lower lip and outstanding ears
Woolly hair syndrome
Worth type autosomal dominant osteosclerosis
Wrinkly skin syndrome
WT limb blood syndrome
Wyburn-Mason syndrome
X-linked adrenal hypoplasia congenita
X-linked agammaglobulinemia
X-linked Charcot-Marie-Tooth disease type 1 – See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 2 – See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 3 – See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 4 – See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 5 – See Charcot-Marie-Tooth disease
X-linked Charcot-Marie-Tooth disease type 6 – See Charcot-Marie-Tooth disease
X-linked complicated corpus callosum agenesis – See L1 syndrome
X-linked complicated spastic paraplegia type 1 – See L1 syndrome
X-linked congenital generalized hypertrichosis
X-linked congenital stationary night blindness
X-linked creatine deficiency
X-linked dominant chondrodysplasia punctata 2
X-linked dystonia-parkinsonism/Lubag
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hypohidrotic ectodermal dysplasia
X-linked hypophosphatemia
X-linked ichthyosis
X-linked intellectual disability – corpus callosum agenesis – spastic quadriparesis
X-linked intellectual disability – short stature – obesity
X-linked intellectual disability, Abidi type
X-linked intellectual disability, Najm type
X-linked intellectual disability, Schimke type
X-linked intellectual disability, Siderius type
X-linked intellectual disability, Turner type
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
X-linked intellectual disability-plagiocephaly syndrome
X-linked lissencephaly with abnormal genitalia
X-linked lymphoproliferative syndrome
X-linked lymphoproliferative syndrome 1
X-linked myopathy with excessive autophagy
X-linked myotubular myopathy
X-linked non-specific intellectual disability
X-linked periventricular heterotopia
X-linked severe combined immunodeficiency
X-linked sideroblastic anemia
X-linked susceptibility to autism-4
X-linked thrombocytopenia
Xanthinuria type 1
Xanthinuria type 2
Xeroderma pigmentosum
XFE progeroid syndrome
Xia-Gibbs syndrome
XK aprosencephaly
Xp22.3 microdeletion syndrome
Yellow nail syndrome
Yemenite deaf-blind hypopigmentation syndrome
Yorifuji Okuno syndrome
Young syndrome
Yunis-Varon syndrome
Zadik Barak Levin syndrome
ZAP-70 deficiency
Zazam Sheriff Phillips syndrome
Zechi Ceide syndrome
Zellweger syndrome
Zlotogora syndrome
Zori Stalker Williams syndrome
ZTTK syndrome
Zunich neuroectodermal syndrome