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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Congenital and Genetic Diseases

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.
Is Rare Condition? Disease Name
* 11-beta-hydroxylase deficiency
* 15q13.3 microdeletion syndrome
* 16p11.2 deletion syndrome
* 17-alpha-hydroxylase deficiency
* 17-beta hydroxysteroid dehydrogenase 3 deficiency
* 17q23.1q23.2 microdeletion syndrome
* 18 Hydroxylase deficiency
* 1q21.1 microdeletion syndrome
* 1q44 microdeletion syndrome
* 2-methyl-3-hydroxybutyric aciduria
* 2-methylbutyryl-CoA dehydrogenase deficiency
* 22q11.2 deletion syndrome
* 22q11.2 duplication syndrome
* 22q13.3 deletion syndrome
* 3 Methylcrotonyl-CoA carboxylase 1 deficiency
* 3 methylglutaconic aciduria type I
* 3 methylglutaconic aciduria type IV
* 3-alpha hydroxyacyl-CoA dehydrogenase deficiency
* 3-beta-hydroxysteroid dehydrogenase deficiency
* 3-Hydroxyisobutyric aciduria
* 3-methylcrotonyl-CoA carboxylase deficiency
* 3-methylglutaconic aciduria type III
* 3M syndrome
* 3p deletion syndrome
* 46,XX testicular disorder of sex development
* 47 XXX syndrome
* 47, XYY syndrome
* 49,XXXXX syndrome
* 49,XXXYY syndrome
* 5-oxoprolinase deficiency
* 5q- syndrome
* 6-pyruvoyl-tetrahydropterin synthase deficiency
* 7q11.23 duplication syndrome
* Aagenaes syndrome
* Aarskog syndrome
* Aase-Smith syndrome
* ABCD syndrome
* Abdominal aortic aneurysm
* Abetalipoproteinemia
* Abidi X-linked mental retardation syndrome
* 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
* Acanthocytosis
* Acanthosis nigricans
* Acanthosis nigricans muscle cramps acral enlargement
* Acardia
* Acatalasemia
* Accessory deep peroneal nerve
*   Accessory navicular bone
* Accessory pancreas
* Aceruloplasminemia
* Achalasia microcephaly syndrome
* Achalasia, familial esophageal
* Achard syndrome
* Acheiropody
* Achondrogenesis
* Achondrogenesis type 1A
* Achondrogenesis type 1B
* Achondrogenesis type 2
* Achondroplasia
* Achondroplasia and severe combined immunodeficiency
* Achondroplasia and Swiss type agammaglobulinemia
* Acitretin embryopathy
* Ackerman syndrome
* Acral dysostosis dyserythropoiesis syndrome
* Acro-pectoro-renal field defect
* Acrocallosal syndrome, Schinzel type
* Acrocapitofemoral dysplasia
* Acrocephalopolydactylous 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
* Acute intermittent porphyria
* Adactylia unilateral
* Adams Oliver syndrome
* Addison's disease
* Adducted thumb and clubfoot syndrome
* Adenine phosphoribosyltransferase deficiency
* Adenosine deaminase deficiency
* Adenylosuccinase deficiency
* Adrenomyeloneuropathy
* ADULT syndrome
* Adult-onset citrullinemia type II
* Adult-onset vitelliform macular dystrophy
* Advanced sleep phase syndrome, familial
* Afibrinogenemia
* Agammaglobulinemia, microcephaly, and severe dermatitis
* AGAT deficiency
* 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-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
* Albright's hereditary osteodystrophy
* Alexander disease
* Alkaptonuria
* Allain-Babin-Demarquez syndrome
* Allan-Herndon-Dudley syndrome
* Alopecia contractures dwarfism mental retardation
* Alopecia epilepsy oligophrenia syndrome of Moynahan
* Alopecia macular degeneration growth retardation
* Alopecia mental retardation syndrome 1
* Alopecia mental retardation syndrome 2
* Alopecia universalis onychodystrophy vitiligo
* Alopecia, epilepsy, pyorrhea, mental subnormality
* Alpers syndrome
* Alpha 1-antitrypsin deficiency
* Alpha-ketoglutarate dehydrogenase deficiency
* Alpha-mannosidosis type 1
* Alpha-thalassemia x-linked intellectual disability syndrome
* Alport syndrome
* Alström syndrome
* 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
* Amish infantile epilepsy syndrome
* Amish lethal microcephaly
* Amniotic band syndrome
* Amyloidosis corneal
* Amyloidosis of gingiva and conjunctiva, with mental retardation
* 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, autosomal dominant
* Angioma serpiginosum, X-linked
* Aniridia absent patella
* Aniridia renal agenesis psychomotor retardation
* Ankyloblepharon filiforme adnatum cleft palate
* Ankyloblepharon filiforme imperforate anus
* Ankylosis of teeth
* Annular pancreas
* Anodontia
* Anomalous origin of right pulmonary artery familial
* Anonychia congenita
* Anonychia ectrodactyly
* Anonychia onychodystrophy
* Anonychia total with microcephaly
* Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
* Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
* Anophthalmia plus syndrome
* Anophthalmos with limb anomalies
* Antecubital pterygium
* Antley Bixler syndrome
* 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
* AREDYLD
* Argininosuccinic aciduria
* Arhinia choanal atresia microphthalmia
* Arrhinia
* Arterial calcification of infancy
* Arterial tortuosity syndrome
* Arthrogryposis and ectodermal dysplasia
* Arthrogryposis distal type 2B
* Arthrogryposis epileptic seizures migrational brain disorder
* Arthrogryposis multiplex congenita distal type 1
* Arthrogryposis multiplex congenita neurogenic type
* Arthrogryposis multiplex congenita whistling face
* Arthrogryposis multiplex congenita, distal, X-linked
* Arthrogryposis renal dysfunction cholestasis syndrome
* Arthrogryposis, distal, type 2E
* Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
* Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
* Arthrogryposis-like hand anomaly and sensorineural deafness
* Arts syndrome
* Aspartylglycosaminuria
* Asternia
* Ataxia telangiectasia
* 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 fibrillation familial
* Atrial myxoma, familial
* Atrial septal defect coronary sinus
* Atrial septal defect ostium primum
* Atrial septal defect ostium secundum
* Atrial septal defect sinus venosus
* Atypical Rett syndrome
* Atypical Werner syndrome
* Auralcephalosyndactyly
* Auriculo-condylar syndrome
* Auriculoosteodysplasia
* Ausems Wittebol-Post Hennekam syndrome
* Autoimmune lymphoproliferative syndrome
* Autoimmune polyglandular syndrome type 1
* Autosomal dominant Alport syndrome
* Autosomal dominant hyper IgE syndrome
* Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
* Autosomal dominant neuronal ceroid lipofuscinosis 4B
* Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy
* Autosomal dominant partial epilepsy with auditory features
* Autosomal dominant pseudohypoaldosteronism type 1
* Autosomal recessive Alport syndrome
* Autosomal recessive polycystic kidney disease
* Autosomal recessive pseudohypoaldosteronism type 1
* Axenfeld-Rieger syndrome
* Axenfeld-Rieger syndrome type 1
* Axenfeld-Rieger syndrome type 2
* Axenfeld-Rieger syndrome type 3
* Axial mesodermal dysplasia spectrum
* Axial spondylometaphyseal dysplasia
* Ayazi syndrome
* Baetz-Greenwalt syndrome
* Bagatelle Cassidy syndrome
* Baller-Gerold syndrome
* Bamforth syndrome
* Banki syndrome
* Bannayan-Riley-Ruvalcaba syndrome
* Bantu siderosis
* Baraitser-Winter syndrome
* Barakat syndrome
* Barber Say syndrome
* Bardet-Biedl syndrome
* Bardet-Biedl syndrome 1
* Bardet-Biedl syndrome 10
* 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
* Basal ganglia disease, biotin-responsive
* Battaglia Neri syndrome
* Bazex-Dupre-Christol syndrome
* Beardwell syndrome
* Becker muscular dystrophy
* Becker nevus syndrome
* Beckwith-Wiedemann syndrome
* Beemer Ertbruggen syndrome
* Behr syndrome
* Benallegue Lacete syndrome
* Benign familial neonatal-infantile seizures
* Berk-Tabatznik syndrome
* Best vitelliform macular dystrophy
* Beta ketothiolase deficiency
* Bethlem myopathy
* Beukes familial hip dysplasia
* Bhaskar Jagannathan syndrome
* Biemond syndrome
* Biemond syndrome 2
* Bietti crystalline corneoretinal dystrophy
* Bifid nose
* Bifid nose with or without anorectal and renal anomalies
* Bilateral perisylvian polymicrogyria
* Bile acid synthesis defect, congenital, 2
* Bile acid synthesis defect, congenital, 4
* Biliary atresia
* Bird headed dwarfism Montreal type
* Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency
* Birk-Barel syndrome
* Birt-Hogg-Dube syndrome
* Bixler Christian Gorlin syndrome
* Bjornstad syndrome
* Blaichman syndrome
* Blau syndrome
* Blepharonasofacial malformation syndrome
* Blepharophimosis with ptosis, syndactyly, and short stature
* Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
* Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
* Blepharoptosis myopia ectopia lentis
* Blepharospasm
* Bloom syndrome
* Blount disease
* Blue cone monochromatism
* Blue diaper syndrome
* Blue rubber bleb nevus syndrome
* BOD 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
* Boucher Neuhauser syndrome
* Bowen syndrome
* Bowen-Conradi syndrome
* Bowing of legs, anterior with dwarfism
* Boylan Dew Greco syndrome
* Brachial amelia, forebrain defects and facial clefts
* Brachioskeletogenital syndrome
* Brachycephalofrontonasal dysplasia
* Brachydactylous dwarfism Mseleni type
* 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
* Brachyolmia type 1 Hobaek type
* Brachyolmia type 3
* Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
* Branchial arch syndrome X-linked
* Branchiooculofacial syndrome
* Branchiootic syndrome
* Branchiootorenal syndrome
* Brittle cornea syndrome
* Brody myopathy
* Bronchogenic cyst
* Bronchopulmonary dysplasia
* Brooks Wisniewski Brown syndrome
* Brown-Vialetto-Van Laere syndrome
* Bruck syndrome 1
* Bruck syndrome 2
* Brugada syndrome
* Bullous dystrophy hereditary macular type
* Burn-Mckeown syndrome
* Buschke Ollendorff syndrome
* C syndrome
* C-like syndrome
* CADASIL
* Caffey disease
* CAHMR syndrome
* Calabro syndrome
* Calloso-genital dysplasia
* Camera Marugo Cohen syndrome
* Campomelia Cumming type
* Campomelic dysplasia
* Camptobrachydactyly
* Camptodactyly arthropathy coxa vara pericarditis syndrome
* Camptodactyly joint contractures and facial skeletal dysplasia
* Camptodactyly syndrome 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
* Carbamoyl phosphate synthetase 1 deficiency
* Cardiac valvular dysplasia, X-linked
* Cardioauditory syndrome of Sanchez Cascos
* Cardiocranial syndrome
* Cardiofaciocutaneous syndrome
* Cardiomelic syndrome Stratton Koehler type
* Cardiomyopathy and deafness due to tRNA lysine gene mutation
* Cardiomyopathy dilated with woolly hair and keratoderma
* Cardioskeletal syndrome Kuwaiti type
* Carnevale syndrome
* Carney triad
* Carnitine palmitoyl transferase 1 deficiency
* Carnitine palmitoyltransferase I deficiency , muscle
* Carnitine-acylcarnitine translocase deficiency
* Carnosinemia
* Caroli disease
* Carpenter syndrome
* Carpotarsal osteochondromatosis
* Cartilage-hair hypoplasia
* Cat Eye syndrome
* Cataract and cardiomyopathy
* Cataract anterior polar dominant
* Cataract ataxia deafness
* Cataract congenital Volkmann type
* Cataract microcornea syndrome
* Cataract, alopecia, sclerodactyly
* Cataract, total congenital
* Cataract, zonular
* Cataract-microcephaly-failure to thrive-kyphoscoliosis
* Cataracts, ataxia, short stature, and mental retardation
* Catatrichy
* Catecholaminergic polymorphic ventricular tachycardia
* Catel Manzke syndrome
* Caudal regression syndrome
* Central core disease
* Cerebellar ataxia and hypogonadotropic hypogonadism
* Cerebellar ataxia ectodermal dysplasia
* Cerebellar ataxia infantile with progressive external ophthalmoplegia
* Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
* Cerebellar hypoplasia
* Cerebellar hypoplasia tapetoretinal degeneration
* Cerebellar hypoplasia with endosteal sclerosis
* Cerebellum agenesis hydrocephaly
* Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
* Cerebral cavernous malformation
* Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
* Cerebral folate deficiency
* Cerebral gigantism jaw cysts
* Cerebro-oculo-facio-skeletal syndrome
* Cerebrocostomandibular-like syndrome
* Cerebrotendinous xanthomatosis
* Ceroid lipofuscinosis neuronal 1
* Ceroid lipofuscinosis neuronal 10
* Ceroid lipofuscinosis neuronal 2
* Ceroid lipofuscinosis neuronal 5
* Ceroid lipofuscinosis neuronal 6
* Ceroid lipofuscinosis neuronal 7
* Ceroid lipofuscinosis neuronal 9
* Cerulean cataract
* Cervical hypertrichosis peripheral neuropathy
* Chanarin-Dorfman syndrome
* CHAND syndrome
* Chang Davidson Carlson syndrome
* Char syndrome
* Charcot-Marie-Tooth disease type 1A
* Charcot-Marie-Tooth disease type 1B
* Charcot-Marie-Tooth disease type 1C
* Charcot-Marie-Tooth disease type 1D
* Charcot-Marie-Tooth disease type 1E
* Charcot-Marie-Tooth disease type 1F
* Charcot-Marie-Tooth disease type 2B
* Charcot-Marie-Tooth disease type 2B1
* Charcot-Marie-Tooth disease type 2B2
* Charcot-Marie-Tooth disease type 2D
* Charcot-Marie-Tooth disease type 2E
* Charcot-Marie-Tooth disease type 2F
* Charcot-Marie-Tooth disease type 2G
* Charcot-Marie-Tooth disease type 2H
* Charcot-Marie-Tooth disease type 2I
* Charcot-Marie-Tooth disease type 2J
* Charcot-Marie-Tooth disease type 2K
* Charcot-Marie-Tooth disease type 4A
* Charcot-Marie-Tooth disease type 4B1
* Charcot-Marie-Tooth disease type 4B2
* Charcot-Marie-Tooth disease type 4C
* Charcot-Marie-Tooth disease type 4E
* Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant
* Charcot-Marie-Tooth disease X-linked 1
* Charcot-Marie-Tooth disease X-linked recessive 2
* Charcot-Marie-Tooth disease X-linked recessive 3
* CHARGE syndrome
* Charlie M syndrome
* Chediak-Higashi syndrome
* Cherubism
* Chiari malformation type 2
* Chiari malformation type 3
* CHILD syndrome
* Childhood-onset cerebral X-linked adrenoleukodystrophy
* Chitayat Meunier Hodgkinson syndrome
* Cholestasis, progressive familial intrahepatic 2
* Cholestasis, progressive familial intrahepatic 3
* Chondrocalcinosis 2
* Chondrodysplasia acromesomelic with genital anomalies
* Chondrodysplasia Blomstrand type
* Chondrodysplasia calcificans metaphysealis
* Chondrodysplasia punctata 1, X-linked recessive
* Chondrodysplasia punctata 2 X-linked dominant
* Chondrodysplasia punctata Sheffield type
* Chondrodysplasia, Grebe type
* Chordoma
* Choreoacanthocytosis
* Choroidal dystrophy central areolar
* Choroideremia
* Christianson syndrome
* 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 18p deletion syndrome
* 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 3q29 microduplication syndrome
* Chromosome 4p duplication
* Chromosome 5p duplication
* Chromosome 6q25 microdeletion syndrome
* Chromosome Xp22 deletion syndrome
* Chromosome Xq28 deletion syndrome
* Chronic granulomatous disease
* Chudley Rozdilsky syndrome
* Chylomicron retention disease
* Chylothorax, congenital
* Chylous ascites
* Clark-Baraitser syndrome
* Clasped thumbs, congenital
* 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
* CLOVES syndrome
* COACH syndrome
* Coats disease
* Cockayne syndrome
* Cockayne syndrome type I
* Cockayne syndrome type II
* Cockayne syndrome type III
* CODAS syndrome
* Coffin-Lowry syndrome
* Coffin-Siris syndrome
* Cogan-Reese syndrome
* Cohen 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
* Complement component 2 deficiency
* Complete androgen insensitivity syndrome
* Condensing osteitis of the clavicle
* Cone-rod dystrophy
* Cone-rod dystrophy amelogenesis imperfecta
* Congenital absence of the sternocleidomastoid muscle
* Congenital amegakaryocytic thrombocytopenia
* Congenital anosmia
* Congenital bilateral absence of the vas deferens
* Congenital central hypoventilation syndrome
* Congenital chloride diarrhea
* Congenital contractural arachnodactyly
* Congenital cytomegalovirus
* Congenital diaphragmatic hernia
* Congenital disorder of glycosylation type 1B
* Congenital disorder of glycosylation type 1C
* Congenital disorder of glycosylation type 1D
* Congenital disorder of glycosylation type 1E
* Congenital disorder of glycosylation type 1F
* Congenital disorder of glycosylation type 1G
* Congenital disorder of glycosylation type 1H
* Congenital disorder of glycosylation type 1I
* Congenital disorder of glycosylation type 1J
* Congenital disorder of glycosylation type 1K
* Congenital disorder of glycosylation type 1L
* Congenital disorder of glycosylation type 2A
* Congenital disorder of glycosylation type 2C
* Congenital disorder of glycosylation type 2D
* Congenital disorder of glycosylation type 2E
* Congenital disorder of glycosylation type 2G
* Congenital dyserythropoietic anemia type 1
* Congenital dyserythropoietic anemia type 2
* Congenital ectodermal dysplasia with hearing loss
* Congenital extrahepatic portosystemic shunt
* Congenital fiber type disproportion
* Congenital generalized lipodystrophy type 2
* Congenital generalized lipodystrophy type 4
* Congenital heart block
* Congenital insensitivity to pain with anhidrosis
* Congenital lipoid adrenal hyperplasia
* Congenital lobar emphysema
* Congenital muscular dystrophy type 1A
* Congenital myasthenic syndrome associated with acetylcholine receptor deficiency
* Congenital myasthenic syndrome with episodic apnea
* Congenital nephrotic syndrome Finnish type
* Congenital nonprogressive myopathy with Moebius and Robin sequences
* Congenital porphyria
* Congenital primary aphakia
* Congenital pseudoarthrosis
* Congenital pulmonary lymphangiectasia
* Congenital rubella
* Congenital sucrase-isomaltase deficiency
* Congenital tracheal stenosis
* Congenital tracheomalacia
* Convulsions, benign familial infantile, 1
* Copper deficiency, familial benign
* 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
* Cortical defects wormian bones and dentinogenesis imperfecta
* Corticobasal degeneration
* Costello syndrome
* Cousin syndrome
* Cowchock 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
* Craniorachischisis
* Craniosynostosis
* Craniosynostosis, anal anomalies, and porokeratosis
* Craniosynostosis-mental retardation syndrome of Lin and Gettig
* Craniotelencephalic dysplasia
* Cri du chat syndrome
* Crigler Najjar syndrome, type 2
* Crisponi syndrome
* Crome syndrome
* Cronkhite-Canada disease
* Crouzon syndrome
* Crumpled helices and small mouth
* Cryptomicrotia brachydactyly syndrome
* Cryptophthalmos
* Curly hair-acral keratoderma-caries syndrome
* Currarino triad
* Curry Jones syndrome
* Cushing's symphalangism
* Cutis Gyrata syndrome of Beare and Stevenson
* Cutis laxa, autosomal recessive type 1
* Cutis marmorata telangiectatica congenita
* Cyclic neutropenia
* Cyprus facial neuromusculoskeletal syndrome
* Cystic fibrosis
* Cystic hygroma
* Cystic hygroma lethal cleft palate
* Cystic medial necrosis of aorta
* Cystinosis
* Czech dysplasia metatarsal type
* D ercole syndrome
* 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 associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis
* Dandy-Walker malformation with facial hemangioma
* Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
* Dandy-Walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy
* 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
* De Barsy syndrome
* De Sanctis-Cacchione syndrome
* Deafness conductive ptosis skeletal anomalies
* Deafness enamel hypoplasia nail defects
* Deafness hypogonadism syndrome
* Deafness oligodontia syndrome
* Deafness onychodystrophy osteodystrophy and mental retardation 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, progressive with stapes fixation
* Deafness, X-linked 2
* Deficiency of interleukin-1 receptor antagonist
* Degos 'en cocarde' erythrokeratoderma
* Degos disease
* Dehydrated hereditary stomatocytosis
* Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
* Dense deposit disease
* Dentatorubral-pallidoluysian atrophy
* Dentin dysplasia sclerotic bones
* Dentin dysplasia, type 1
* Dentinogenesis imperfecta 1
* Dentinogenesis imperfecta Shields type 3
* Denys-Drash syndrome
* Dermatofibrosarcoma protuberans
* Dermatoosteolysis Kirghizian type
* Dermatopathia pigmentosa reticularis
* Dermochondrocorneal dystrophy of François
* Dermoodontodysplasia
* Desbuquois syndrome
* Desmoid disease, hereditary
* 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
* Dihydropteridine reductase deficiency
* Dihydropyrimidine dehydrogenase deficiency
* Dilated cardiomyopathy
* Dilated cardiomyopathy with hypergonadotropic hypogonadism
* Diphallia
* Diploid-triploid mosaicism
* Distal arthrogryposis type 5
* Distal myopathy Markesbery-Griggs type
* Distal myopathy with vocal cord weakness
* DK phocomelia syndrome
* Donnai-Barrow syndrome
* Dopamine beta hydroxylase deficiency
*   Double inferior vena cava
* Dowling-Degos disease
* Drachtman Weinblatt Sitarz syndrome
* Dravet syndrome
* Duane syndrome
* Duane-radial ray syndrome
* Dubin-Johnson syndrome
* Dubowitz syndrome
* Duodenal atresia
* Duplication of urethra
*   Dwarfism
* Dwarfism familial with muscle spasms
* Dwarfism Levi type
* Dwarfism stiff joint ocular abnormalities
* Dwarfism tall vertebrae
* Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
* Dwarfism, mental retardation and eye abnormality
* Dwarfism, proportionate with hip dislocation
* Dyggve-Melchior-Clausen syndrome
* Dykes Markes Harper syndrome
* Dyschondrosteosis nephritis
* Dyschromatosis symmetrica hereditaria 1
* Dysequilibrium syndrome
* Dyskeratosis congenita
* Dyskeratosis congenita autosomal dominant
* Dysosteosclerosis
* Dysplasia epiphysealis hemimelica
* Dyssegmental dysplasia and glaucoma
* Dyssegmental dysplasia Rolland-Desbuquois type
* Dyssegmental dysplasia Silverman-Handmaker type
* Dystelephalangy
* Dystonia 1
* Dystonia 10
* Dystonia 11
* Dystonia 12
* Dystonia 13
* Dystonia 15, myoclonic
* Dystonia 16
* Dystonia 18
* Dystonia 2, torsion, autosomal recessive
* Dystonia 3, torsion, X-linked
* Dystonia 4, torsion, autosomal dominant type
* Dystonia 6, torsion
* Dystonia 7, torsion
* Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
* Ebstein's anomaly
* Ectodermal dysplasia
* Ectodermal dysplasia 2, hidrotic
* 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
* EEM syndrome
* Ehlers-Danlos syndrome arthrochalasia type
* Ehlers-Danlos syndrome Beasley Cohen type
* Ehlers-Danlos syndrome dermatosparaxis type
* Ehlers-Danlos syndrome dysfibronectinemic type
* Ehlers-Danlos syndrome hypermobility type
* Ehlers-Danlos syndrome kyphoscoliotic type
* Ehlers-Danlos syndrome progeroid type
* Ehlers-Danlos syndrome type 5
* Ehlers-Danlos syndrome vascular type
* Ehlers-Danlos-like syndrome due to tenascin-X deficiency
* Eisenmenger syndrome
* Elastosis perforans serpiginosa
* Ellis Yale Winter syndrome
* Ellis-Van Creveld syndrome
* Emanuel syndrome
* Emery-Dreifuss muscular dystrophy, X-linked
* Encephalocele
* Encephalomyopathy
* 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 hyperkeratosis
* Epiphyseal dysplasia hearing loss dysmorphism
* Epiphyseal dysplasia multiple with early-onset diabetes mellitus
* Episodic ataxia with nystagmus
* Ermine phenotype
* Erythroderma lethal congenital
* Erythromelalgia
* Erythropoietic protoporphyria
* Escher Hirt syndrome
* Esophageal atresia
* Ethylmalonic encephalopathy
* Eunuchoidism familial hypogonadotropic
* Exstrophy of the bladder
* Fabry disease
* 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 XII deficiency
* Factor XIII deficiency
* Fallot complex with severe mental and growth retardation
* Familial amyloidosis, Finnish type
* Familial avascular necrosis of the femoral head
* Familial cold autoinflammatory syndrome
* Familial cylindromatosis
* Familial dysautonomia
* Familial encephalopathy with neuroserpin inclusion bodies
* Familial erythrocytosis, 1
* Familial exudative vitreoretinopathy
* Familial HDL deficiency
* Familial hemiplegic migraine type 1
* Familial hemiplegic migraine type 2
* Familial hyperinsulinism
* Familial hypocalciuric hypercalcemia type 2
* Familial hypocalciuric hypercalcemia type 3
* Familial idiopathic basal ganglia calcification
* Familial juvenile hyperuricaemic nephropathy
* Familial Mediterranean fever
* Familial platelet disorder with associated myeloid malignancy
* Familial thoracic aortic aneurysm and dissection
* Familial visceral myopathy with external ophthalmoplegia
* Fanconi anemia
* Fanconi Bickel syndrome
* Farber's disease
* Fatal familial insomnia
* Faye-Petersen-Ward-Carey 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 hydantoin syndrome
* Fetal retinoid syndrome
* Fetal thalidomide syndrome
* Fetal valproate syndrome
* FG syndrome
* FG syndrome 2
* FG syndrome 3
* Fibrochondrogenesis
* Fibrodysplasia ossificans progressiva
* Fibrous dysplasia
* Fibular aplasia ectrodactyly
* Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
* Fibular hypoplasia and complex brachydactyly
* Filippi syndrome
* Fine-Lubinsky syndrome
* Finger locking recurrent with intrauterine growth retardation and proportionate short stature
* Fish-eye disease
* Fitzsimmons syndrome
* Fitzsimmons Walson Mellor syndrome
* Fitzsimmons-Guilbert syndrome
* Floating-Harbor syndrome
* Florid cemento-osseous dysplasia
* Flynn Aird syndrome
* Focal cortical dysplasia of Taylor
* Focal dermal hypoplasia
* Focal facial dermal dysplasia
* Follicle-stimulating hormone deficiency, isolated
* Fountain syndrome
* Fragile X syndrome
* Fragile XE syndrome
* Franek Bocker kahlen 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
* Frontotemporal dementia, ubiquitin-positive
* Froster-Huch syndrome
* Fructose-1,6-bisphosphatase deficiency
* Fryns Hofkens Fabry syndrome
* Fryns syndrome
* Fucosidosis
* Fuhrmann syndrome
* Fukuyama type muscular dystrophy
* Fumarase deficiency
* Fused mandibular incisors
* Galactokinase deficiency
* Galactosialidosis
* Game Friedman Paradice syndrome
* Gamma-cystathionase deficiency
* GAPO syndrome
* Gardner Morrison Abbot syndrome
* Gardner syndrome
* Garret Tripp syndrome
* Gastrocutaneous syndrome
* Gastrointestinal Stromal Tumors
* Gastroschisis
* Gaucher disease perinatal lethal
* Gaucher disease type 2
* Gaucher disease type 3
* Gay Feinmesser Cohen syndrome
* Geleophysic dwarfism
* Generalized dominant dystrophic epidermolysis bullosa
* Geniospasm
* Genito palato cardiac syndrome
* Genoa syndrome
* Genochondromatosis
* Genu valgum, st Helena familial
* German syndrome
* Geroderma osteodysplastica
* Gerstmann-Straussler-Scheinker disease
* 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
* Glomerulonephritis with sparse hair and telangiectases
* 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
* Glutathionuria
* Glycogen storage disease type 0
* Glycogen storage disease type 12
* Glycogen storage disease type 13
* Glycogen storage disease type 1B
* Glycogen storage disease type 3
* Glycogen storage disease type 4
* Glycogen storage disease type 5
* Glycogen storage disease type 7
* GM1 gangliosidosis type 1
* GM1 gangliosidosis type 2
* GM1 gangliosidosis type 3
* Goldberg-Shprintzen megacolon syndrome
* Goldmann-Favre syndrome
* Gomez Lopez Hernandez syndrome
* Gonadal dysgenesis, XX type
* Goodman syndrome
* Gordon syndrome
* Gorham's disease
* Gorlin Bushkell Jensen syndrome
* Gorlin Chaudhry Moss syndrome
* Gracile bone dysplasia
* GRACILE syndrome
* Graham Boyle Troxell syndrome
* Grant syndrome
* Gray platelet syndrome
* Greig cephalopolysyndactyly syndrome
* Griscelli syndrome type 1
* Griscelli syndrome type 2
* Griscelli syndrome type 3
* Groll Hirschowitz syndrome
* Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
* Growth hormone insensitivity with immunodeficiency
* Grubben de Cock Borghgraef syndrome
* GTP cyclohydrolase I deficiency
* Guanidinoacetate methyltransferase deficiency
* Gurrieri syndrome
* Hailey-Hailey disease
* Haim-Munk syndrome
* Hair defect with photosensitivity and mental retardation
* Hairy elbows
* Hajdu-Cheney syndrome
* Halal syndrome
* Hall Riggs mental retardation 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
* Harrod Doman Keele syndrome
* Hartnup disease
* Hawkinsinuria
* Hay-Wells syndrome
* Heart defect, tongue hamartoma and polysyndactyly
* Heart-hand syndrome, Slovenian type
* Heart-hand syndrome,Spanish type
* Hemangioma thrombocytopenia syndrome
* Hemangiomatosis, familial pulmonary capillary
* Hemi 3 syndrome
* Hemifacial hyperplasia strabismus
* Hemifacial microsomia
* Hemimegalencephaly
* Hemochromatosis type 2
* Hemochromatosis type 3
* Hemoglobin C disease
* Hemoglobin E disease
* Hemoglobin SC disease
* Hennekam syndrome
* Hepatic venoocclusive disease with immunodeficiency
* Hepatoerythropoietic porphyria
* Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
* Hereditary congenital facial paresis
* Hereditary coproporphyria
* Hereditary elliptocytosis
* Hereditary endotheliopathy, retinopathy, nephropathy, and stroke
* Hereditary fructose intolerance
* Hereditary hemorrhagic telangiectasia
* Hereditary hemorrhagic telangiectasia type 2
* Hereditary hemorrhagic telangiectasia type 3
* Hereditary hyperekplexia
* Hereditary koilonychia
* Hereditary lymphedema type II
* Hereditary mucoepithelial dysplasia
* Hereditary multiple osteochondromas
* Hereditary neuralgic amyotrophy
* Hereditary neuropathy with liability to pressure palsy
* Hereditary paraganglioma-pheochromocytoma
* Hereditary spherocytosis
* Hermansky Pudlak syndrome 2
* Hermansky-Pudlak syndrome
* Heterochromia iridis
* Heterotaxy
* Hirschsprung disease polydactyly heart disease
* Hirschsprung disease type d brachydactyly
* Hirschsprung's disease
* His bundle tachycardia
* Histidinemia
* HMG CoA lyase deficiency
* Holoprosencephaly, recurrent infections, and monocytosis
* Holt-Oram syndrome
* Holzgreve syndrome
* Homocarnosinosis
* Homocysteinemia due to MTHFR deficiency
* Homocystinuria due to CBS deficiency
* Hoyeraal Hreidarsson syndrome
* Hunter Carpenter Macdonald syndrome
* Hunter Rudd Hoffmann syndrome
* Hunter-McAlpine syndrome
* Huntington disease
* Hutterite cerebroosteonephrodysplasia syndrome
* Hyde Forster Mccarthy Berry syndrome
* Hydranencephaly
* Hydrocephalus
* Hydrocephalus due to congenital stenosis of aqueduct of sylvius
* Hydrocephalus obesity hypogonadism
* Hydrocephalus, costovertebral dysplasia, and Sprengel anomaly
* Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
* Hydroxykynureninuria
* Hyper-IgD syndrome
* Hyperbilirubinemia transient familial neonatal
* Hyperferritinemia cataract syndrome
* Hyperinsulinism due to glucokinase deficiency
* Hyperinsulinism-hyperammonemia syndrome
* Hyperkalemic periodic paralysis
* Hyperkeratosis lenticularis perstans
* Hyperkeratosis palmoplantar localized acanthokeratolytic
* Hyperkeratosis palmoplantar localized epidermolytic
* Hyperlipoproteinemia type 5
* Hyperlysinemia
* Hyperostosis corticalis generalisata
* Hyperostosis corticalis generalisata, benign form of Worth with torus palatinus
* Hyperparathyroidism, neonatal severe primary
* Hyperparathyroidism-jaw tumor syndrome
* Hyperphenylalaninemia due to dehydratase deficiency
* Hyperprolinemia
* Hyperprolinemia type 2
* Hypertelorism and tetralogy of Fallot
* Hyperthermia induced defects
* Hypertrichosis congenital generalized X-linked
* Hypertrichosis lanuginosa congenita
* Hypertrichosis, anterior cervical
* Hypertrophic neuropathy of Dejerine-Sottas
* Hypocalcemia, autosomal dominant
* Hypochondroplasia
* Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
* Hypohidrotic ectodermal dysplasia autosomal recessive
* Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
* Hypokalemic periodic paralysis
* Hypomandibular faciocranial dysostosis
* Hypomyelination and congenital cataract
* Hypomyelination with atrophy of basal ganglia and cerebellum
* Hypoparathyroidism-retardation-dysmorphism syndrome
* Hypophosphatemic rickets
* Hypoplastic left heart syndrome
* Hypospadias familial
* Hypospadias mental retardation Goldblatt type
* Hypotelorism cleft palate hypospadias
* Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response
* Hypotrichosis simplex
* I cell disease
* IBIDS syndrome
* ICF syndrome
* Ichthyosiform erythroderma, corneal involvement, deafness
* Ichthyosis alopecia eclabion ectropion mental retardation
* Ichthyosis and male hypogonadism
* Ichthyosis bullosa of Siemens
* Ichthyosis cheek eyebrow syndrome
* Ichthyosis follicularis atrichia photophobia syndrome
* Ichthyosis hystrix gravior
* Ichthyosis hystrix, Curth Macklin type
* Ichthyosis lamellar 1
* Ichthyosis lamellar 2
* Ichthyosis lamellar 3
* Ichthyosis lamellar, autosomal dominant
* Ichthyosis mental retardation dwarfism renal impairment
* 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
* Iida Kannari syndrome
* Illum 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
* 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 convulsions and paroxysmal choreoathetosis, familial
* Infantile histiocytoid cardiomyopathy
* Infantile myofibromatosis
* Infantile onset spinocerebellar ataxia
* Infantile Parkinsonism-dystonia
* Infantile spasms broad thumbs
* Inherited hypoprothrombinemia
* 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
* Intermediate severe Salla 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 dysplasia hypertelorism deafness
* Iris hypoplasia and glaucoma
* Iron-refractory iron deficiency anemia
* Irons Bhan syndrome
* Isobutyryl-CoA dehydrogenase deficiency
* Isodicentric chromosome 15 syndrome
* Isolated ACTH deficiency
* 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
* Jeune syndrome
* Johanson Blizzard syndrome
* Johnson Munson syndrome
* Johnson neuroectodermal syndrome
* Johnston Aarons Schelley syndrome
* Joint laxity, familial
* Jones syndrome
* Joubert syndrome
* Joubert syndrome with oculorenal anomalies
* Juberg Marsidi syndrome
* Juberg-Hayward syndrome
* Junctional epidermolysis bullosa, Herlitz type
* Junctional epidermolysis bullosa, non-Herlitz type
* Juvenile hyaline fibromatosis
* Juvenile osteoporosis
* 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
* Kaplowitz Bodurtha syndrome
* Kapur Toriello syndrome
* Karak syndrome
* Kartagener syndrome
* KBG syndrome
* Kearns Sayre syndrome
* Kennedy disease
* Kennerknecht Vogel syndrome
* 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
* Keratosis palmoplantaris papulosa
* Kernicterus
* Keutel syndrome
* KID syndrome
* Kindler syndrome
* King Denborough syndrome
* Kleeblattschaedel syndrome
* Kleine Levin syndrome
* Kleiner Holmes syndrome
* Klinefelter syndrome
* 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
* Konigsmark Knox Hussels syndrome
* Koolen de Vries syndrome
* Koone Rizzo Elias syndrome
* Kosztolanyi syndrome
* Kotzot-Richter syndrome
* Kowarski syndrome
* Kozlowski Warren Fisher syndrome
* Kurczynski Casperson syndrome
* Kuskokwim disease
* Kyphomelic dysplasia
* L-2-hydroxyglutaric aciduria
* 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
* Laparoschisis
* Laron syndrome
* Larsen syndrome
* Larsen-like syndrome
* Laryngomalacia
* Laryngoonychocutaneous syndrome
* Larynx atresia
* Larynx, congenital partial atresia of
* Lassueur-Graham-Little syndrome
* Lateral semicircular canal malformation, familial, with external and middle ear abnormalities
* Lathosterolosis
* Lattice corneal dystrophy type 1
* Laurin-Sandrow syndrome
* LCHAD deficiency
* Le Marec Bracq Picaud syndrome
* Leber congenital amaurosis
* Leber congenital amaurosis 5
* Leber hereditary optic neuropathy
* Leber miliary aneurysm
* Left-sided gallbladder
* Legg-Calve-Perthes disease
* Legius syndrome
* Leigh syndrome, French Canadian type
* Leisti Hollister Rimoin syndrome
* Lelis syndrome
* Lennox-Gastaut syndrome
* Lenz Majewski hyperostotic dwarfism
* Lenz microphthalmia syndrome
* LEOPARD syndrome
* Leprechaunism
* Leri pleonosteosis
* Leri Weill dyschondrosteosis
* Lesch Nyhan syndrome
* Lethal chondrodysplasia Moerman type
* Lethal chondrodysplasia Seller type
* Lethal congenital contracture syndrome 1
* Lethal congenital contracture syndrome 2
* Lethal short limb skeletal dysplasia Al Gazali type
* Leukodystrophy with oligodontia
* Leukoencephalopathy palmoplantar keratoderma
* Leukoencephalopathy with vanishing white matter
* Leukonychia totalis
* Levic Stefanovic Nikolic syndrome
* Levy-Yeboa syndrome
* Lhermitte-Duclos disease
* Li-Fraumeni syndrome
* Lichtenstein syndrome
* Liddle syndrome
* Limb deficiencies distal with micrognathia
* Limb dystonia
* Limb-body wall complex
* Limb-girdle muscular dystrophy type 2E
* Limb-girdle muscular dystrophy type 2F
* Limb-girdle muscular dystrophy type 2H
* Limb-girdle muscular dystrophy, type 1A
* Limb-girdle muscular dystrophy, type 1B
* Limb-girdle muscular dystrophy, type 2B
* Limb-girdle muscular dystrophy, type 2C
* Limb-girdle muscular dystrophy, type 2D
* Limb-girdle muscular dystrophy, type 2G
* Limb-mammary syndrome
* Linear nevus sebaceous syndrome
* Lipodystrophy, familial partial, type 2
* Lipoid proteinosis of Urbach and Wiethe
* Lissencephaly 2
* Loeys-Dietz syndrome
* Loeys-Dietz syndrome type 1A
* Long QT syndrome 1
* Long QT syndrome 8
* Loose anagen hair syndrome
* Lopes Gorlin syndrome
* Lowe oculocerebrorenal syndrome
* Lowry Maclean syndrome
* Lowry Wood syndrome
* Lubinsky syndrome
* Lubs X-linked mental retardation syndrome
* Lucey-Driscoll syndrome
* Lujan Fryns syndrome
* Lumbar malsegmentation short stature
* Lung agenesis
* Lymphangioleiomyomatosis
* Lymphedema, microcephaly and chorioretinopathy syndrome
* Lymphedema-distichiasis syndrome
* Lysinuric protein intolerance
* Mac Dermot Winter syndrome
* Macrocephaly mesodermal hamartoma spectrum
* Macrocephaly, benign familial
* Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations
* Macrocephaly-capillary malformation
* Macrodactyly of the foot
* Macrodactyly of the hand
* Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
* Macroglossia
* Macrosomia with lethal microphthalmia
* Macular dystrophy, corneal type 1
* Macules hereditary congenital hypopigmented and hyperpigmented
* Madelung disease
* Madokoro Ohdo Sonoda syndrome
* Maffucci syndrome
* Majeed syndrome
* Male pseudohermaphroditism due to defective LH molecule
* Male pseudohermaphroditism intellectual disability syndrome, Verloes type
* 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
* Malonyl-CoA decarboxylase deficiency
* Malpuech facial clefting syndrome
* Mandibuloacral dysplasia with type A lipodystrophy
* Mandibuloacral dysplasia with type B lipodystrophy
* Mannosidosis, beta A, lysosomal
* Manouvrier syndrome
* Marden Walker like syndrome
* Marden-Walker syndrome
* Marfan syndrome
* 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
* Maternally inherited Leigh syndrome
* Maturity-onset diabetes of the young
* Maturity-onset diabetes of the young, type 1
* Maturity-onset diabetes of the young, type 2
* Maturity-onset diabetes of the young, type 3
* Maturity-onset diabetes of the young, type 4
* Maturity-onset diabetes of the young, type 5
* Maturity-onset diabetes of the young, type 6
* Maturity-onset diabetes of the young, type 7
* Maturity-onset diabetes of the young, type 8
* Maturity-onset diabetes of the young, type 9
* Maxillonasal dysplasia, Binder type
* Mayer-Rokitansky-Kuster-Hauser syndrome
* McDonough syndrome
* McKusick Kaufman syndrome
* McLeod neuroacanthocytosis syndrome
* McPherson Clemens syndrome
* Meacham Winn Culler syndrome
* Meckel 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
* Megalocornea - spherophakia - secondary glaucoma
* Megalocornea mental retardation syndrome
* Megarbane Jalkh syndrome
* Megarbane syndrome
* Mehes syndrome
* Mehta Lewis Patton syndrome
* Meier-Gorlin syndrome
* Meleda disease
* Melnick-Needles syndrome
* Melorheostosis
* Meningocele
* Menkes disease
* Mental deficiency-epilepsy-endocrine disorders
* Mental retardation skeletal dysplasia abducens palsy
* Mental retardation Smith Fineman Myers type
* Mental retardation syndrome, Belgian type
* Mental retardation Wolff type
* Mental retardation X-linked syndromic 7
* Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance
* Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
* Mental retardation, keratoconus, febrile seizures, and sinoatrial block
* Mental retardation, X-linked 14
* Mental retardation-hypotonic facies syndrome X-linked, 1
* Mesomelia-synostoses syndrome
* 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 mental retardation conductive deafness
* Metaphyseal dysplasia maxillary hypoplasia brachydactyly
* Metaphyseal dysplasia without hypotrichosis
* Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
* Metatropic dysplasia
* Methimazole antenatal infection
* Methionine adenosyltransferase deficiency
* Methyl mercury antenatal infection
* Methylcobalamin deficiency cbl G type
* Methylmalonic aciduria with homocystinuria cbl f
* Mevalonic aciduria
* Michelin tire baby syndrome
* Michels Caskey syndrome
* Michels syndrome
* Microbrachycephaly ptosis cleft lip
* Microcephalic osteodysplastic primordial dwarfism type 1
* Microcephalic osteodysplastic primordial dwarfism type 2
* Microcephalic primordial dwarfism Toriello type
* 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 sparse hair mental retardation seizures
* Microcephaly, hiatal hernia and nephrotic syndrome
* Microcephaly, seizures, and developmental delay
* Microcephaly-albinism-digital anomalies syndrome
* Microcoria, congenital
* Microdeletion 15q11.2
* Microgastria limb reduction defect
* Microhydranencephaly
* Micromelic bone dysplasia with cloverleaf skull
* Microphthalmia associated with colobomatous cyst
* Microphthalmia cataract
* Microphthalmia mental deficiency
* Microphthalmia syndromic 10
* Microphthalmia syndromic 3
* Microphthalmia syndromic 4
* Microphthalmia syndromic 5
* Microphthalmia syndromic 6
* Microphthalmia syndromic 7
* Microphthalmia syndromic 8
* Microphthalmia syndromic 9
* 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
* Miles-Carpenter x-linked mental retardation syndrome
* Miller syndrome
* Miller-Dieker syndrome
* Milner Khallouf Gibson syndrome
* Milroy disease
* Minicore myopathy with external ophthalmoplegia
* Minicore myopathy, antenatal onset, with arthrogryposis
* Mitochondrial complex II deficiency
* Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
* Mitochondrial genetic disorders
* 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
* Mohr-Tranebjaerg syndrome
* Moloney syndrome
* Molybdenum cofactor deficiency
* MOMO syndrome
* Monilethrix
* Morgagni-Stewart-Morel syndrome
* MORM syndrome
* Morquio syndrome A
* 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
* Muckle-Wells syndrome
* Mucolipidosis III alpha/beta
* Mucopolysaccharidosis type IIIA
* Mucopolysaccharidosis type IIIB
* Mucopolysaccharidosis type VII
* Muenke Syndrome
* Muir-Torre syndrome
* Mulibrey Nanism
* Muller Barth Menger syndrome
* Multicentric osteolysis nephropathy
* Multicystic renal dysplasia, bilateral
* Multiple endocrine neoplasia type 1
* 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 1
* Multiple familial trichoepithelioma 2
* Multiple fibrofolliculoma familial
* Multiple pterygium syndrome Aslan type
* Multiple pterygium syndrome Escobar type
* Multiple pterygium syndrome lethal type
* Multiple pterygium syndrome X-linked
* Multiple sulfatase deficiency
* Multiple synostoses syndrome 1
* Multiple synostoses syndrome 2
* Mungan syndrome
* MURCS association
* Muscle eye brain disease
* Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus
* Muscular dystrophy white matter spongiosis
* Muscular phosphorylase kinase deficiency
* Myelocerebellar disorder
* Myhre syndrome
* Myoclonic astatic epilepsy
* Myoclonus ataxia
* Myoclonus cerebellar ataxia deafness
* Myoclonus hereditary progressive distal muscular atrophy
* Myoclonus with epilepsy with ragged red fibers
* Myoglobinuria recurrent
* Myokymia with neonatal epilepsy
* Myopathic carnitine deficiency
* Myopathy congenital multicore with external ophthalmoplegia
* Myotonia congenita autosomal dominant
* Myotonia congenita autosomal recessive
* Myotonic dystrophy type 1
* Myotonic dystrophy type 2
* Myxoma-spotty pigmentation-endocrine overactivity
* N syndrome
* N-acetylglutamate synthetase deficiency
* Nablus mask-like facial syndrome
* Naegeli syndrome
* Nager acrofacial dysostosis
* Naguib-Richieri-Costa syndrome
* Nail dysplasia, isolated congenital
* Nail patella syndrome
* Nakajo syndrome
* Nance-Horan syndrome
* Nasodigitoacoustic syndrome
* Nathalie syndrome
* Native American myopathy
* Naxos disease
* Nemaline myopathy 1
* Nemaline myopathy 2
* Nemaline myopathy 3
* Nemaline myopathy 4
* Nemaline myopathy 5
* Nemaline myopathy 6
* Neonatal adrenoleukodystrophy
* Neonatal hemochromatosis
* Neonatal progeroid syndrome
* Nephrogenic diabetes insipidus
* Nephropathic cystinosis
* Nephropathy, deafness, and hyperparathyroidism
* Netherton syndrome
* Neu Laxova syndrome
*   Neural tube defects
* Neuroaxonal dystrophy, infantile
* Neurofaciodigitorenal syndrome
* Neuroferritinopathy
* Neurofibromatosis type 2
* Neurofibromatosis type 3A
* Neurofibromatosis type 6
* Neurofibromatosis-Noonan syndrome
* 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, LOM 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
* Nevo syndrome
* Nevoid basal cell carcinoma syndrome
* Nguyen syndrome
* Nicolaides Baraitser syndrome
* Niemann-Pick disease type B
* Nievergelt 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
* Noonan syndrome 2
* Noonan syndrome 3
* Noonan syndrome 4
* Noonan syndrome 5
* Noonan syndrome 6
* Noonan-like syndrome with loose anagen hair
* Norrie disease
* North Carolina macular dystrophy
* Northern Epilepsy
* Novak syndrome
* Nuchal bleb, familial
* Occipital horn syndrome
* Occult spinal dysraphism
* 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
* Oculootofacial dysplasia
* Oculopharyngeal muscular dystrophy
* Oculorenocerebellar syndrome
* Odonto onycho dysplasia with alopecia
* Odontoma dysphagia syndrome
* Odontomicronychial dysplasia
* Odontoonychodermal dysplasia
* Oguchi disease
* Ohtahara syndrome
* 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 imperforate anus
* Omphalomesenteric cyst
* Onychotrichodysplasia and neutropenia
* Opsismodysplasia
* Optic atrophy 1
* Optic atrophy 1 and deafness
* Optic atrophy 2
* Optic atrophy and cataract, autosomal dominant
* 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
* Orstavik Lindemann Solberg syndrome
* Oslam syndrome
* OSMED Syndrome
* Ossicular Malformations, familial
* Osteoarthropathy of fingers familial
* Osteodysplasia familial Anderson type
* Osteoectasia familial
* Osteogenesis imperfecta
* Osteogenesis imperfecta congenita microcephaly and cataracts
* Osteogenesis imperfecta Levin type
* Osteogenesis imperfecta type 1
* Osteogenesis imperfecta type 1A
* Osteogenesis imperfecta type 2A
* Osteogenesis imperfecta type 2B
* Osteogenesis imperfecta type 3
* Osteogenesis imperfecta type 4
* Osteogenesis imperfecta type 5
* Osteogenesis imperfecta type 6
* Osteogenesis imperfecta type 7
* Osteogenesis imperfecta type 8
* Osteogenesis imperfecta type 9
* 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
* Oto-palato-digital syndrome type 1
* Oto-palato-digital syndrome type 2
* Otodental dysplasia
* Otofaciocervical syndrome
* Otoonychoperoneal syndrome
* Ouvrier Billson syndrome
* Pachydermoperiostosis
* Pachygyria
* Pachygyria with mental retardation and seizures
* Pachygyria, frontotemporal
* Pachyonychia congenita
* Pacman dysplasia
* Paget disease, juvenile
* 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
* Pancreatic agenesis
* Pancreatic beta cell agenesis with neonatal diabetes mellitus
* 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
* Parkinson disease type 9
* Parkinsonism, early onset with mental retardation
* Paroxysmal nocturnal hemoglobinuria
* Paroxysmal ventricular fibrillation
* Partial androgen insensitivity syndrome
* Partington X-linked mental retardation syndrome
* PASLI disease
* Passos-Bueno syndrome
* Patterson Stevenson syndrome
* 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
* Periodic fever, familial, autosomal dominant
* Permanent neonatal diabetes mellitus
* Peroxisome biogenesis disorders
* 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
* PHACE syndrome
* PHAVER syndrome
* Phenobarbital antenatal infection
* Pheochromocytoma
* Phocomelia ectrodactyly deafness sinus arrhythmia
* Phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia
* Phosphoglycerate kinase deficiency
* Phosphoglycerate mutase deficiency
* PIBIDS syndrome
* Picardi-Lassueur-Little syndrome
* 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 syndrome
* Pitt-Hopkins syndrome
* Pituitary dwarfism with large sella turcica
* Pituitary hormone deficiency, combined 2
* Pituitary hormone deficiency, combined 3
* Pituitary hormone deficiency, combined 4
* Pityriasis rubra pilaris
* Plagiocephaly
* Plagiocephaly and X-linked mental retardation
* Plasminogen activator inhibitor type 1 deficiency
* Platelet disorder, familial, with associated myeloid malignancy
* Platyspondylic lethal skeletal dysplasia Torrance type
* Poikiloderma with neutropenia
* Poland syndrome
* Polycystic kidneys, severe infantile with tuberous sclerosis
* Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
* Polycystic liver disease
* Polydactyly
* Polydactyly cleft lip palate psychomotor retardation
* Polydactyly myopia syndrome
* Polydactyly preaxial type 1
* Polydactyly preaxial type 4
* Polyglucosan body disease, adult
* Polyneuropathy mental retardation acromicria premature menopause
* 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 lethal type
* Porokeratosis of Mibelli
* Porokeratosis plantaris palmaris et disseminata
* Porokeratosis, disseminated superficial actinic 2
* Porphyria cutanea tarda
* Posterior column ataxia with retinitis pigmentosa
* Potassium aggravated myotonia
* Potato nose
* Potocki-Lupski syndrome
* Potocki-Shaffer syndrome
* Potter syndrome
* PPM-X syndrome
* Prader-Willi habitus, osteopenia, and camptodactyly
* Prader-Willi syndrome
* Prata Libéral Gonçalves syndrome
* Preaxial deficiency, postaxial polydactyly and hypospadias
* Prieto X-linked mental retardation syndrome
* Primary angiitis of the central nervous system
* Primary basilar impression
* Primary carnitine deficiency
* Primary ciliary dyskinesia
* Primary hyperoxaluria type 1
* Primary hyperoxaluria type 2
* Primary lateral sclerosis
* Primary pigmented nodular adrenocortical disease
* Primrose syndrome
* Proconvertin deficiency, congenital
* Progeria
* Progeroid short stature with pigmented nevi
* Progeroid syndrome Petty type
* Prognathism mandibular
* Progressive bifocal chorioretinal atrophy
* Progressive familial heart block type 1A
* Progressive non-fluent aphasia
* Progressive osseous heteroplasia
* Progressive pseudorheumatoid arthropathy of childhood
* Prolidase deficiency
* Propionic acidemia
*   Protein C deficiency
* Proteus syndrome
* Proud Levine Carpenter syndrome
* Proximal chromosome 18q deletion syndrome
* Prune belly syndrome
* Pseudo Pelger-Huet anomaly
* Pseudo-Von Willebrand disease
* Pseudoachondroplasia
* Pseudoaminopterin syndrome
* Pseudodiastrophic dysplasia
* Pseudohypoparathyroidism type 1A
* Pseudohypoparathyroidism type 1B
* Pseudohypoparathyroidism type 1C
* Pseudohypoparathyroidism type 2
* Pseudomarfanism
* Pseudoneonatal adrenoleukodystrophy
* Pseudoprogeria syndrome
* Pseudopseudohypoparathyroidism
* Pseudotrisomy 13 syndrome
* Pseudoxanthoma elasticum
* Pseudoxanthoma elasticum, forme fruste
* Pterygia, mental retardation and distinctive craniofacial features
* Pterygium colli mental retardation digital anomalies
* Ptosis strabismus ectopic pupils
* Pulmonary arterio-veinous fistula
* Pulmonary atresia with ventricular septal defect
* Pulmonary vein stenosis
* Pulmonary venoocclusive disease
* Purine nucleoside phosphorylase deficiency
* Pycnodysostosis
* Pyknoachondrogenesis
* Pyle disease
* Pyogenic arthritis, pyoderma gangrenosum and acne
* Pyridoxal 5'-phosphate-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 hypoplasia, triphalangeal thumbs and hypospadias
* Radial ray agenesis
* Radial ray hypoplasia choanal atresia
* Radio renal syndrome
* Radioulnar synostosis retinal pigment abnormalities
* Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
* Radius absent anogenital anomalies
* Raine syndrome
* Ramon Syndrome
* Ramos Arroyo Clark syndrome
* Rapadilino syndrome
* Rapp-Hodgkin syndrome
* Rasmussen Johnsen Thomsen syndrome
* Reardon Wilson Cavanagh syndrome
* Recessive developmental delay, small stature, microcephaly and brain calcifications
* Recombinant chromosome 8 syndrome
* Reducing body myopathy
* Refsum disease
* Refsum disease, infantile form
* Renal coloboma syndrome
* Renal dysplasia megalocystis sirenomelia
* Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
* Renal dysplasia-limb defects syndrome
* Renal glycosuria
* Renal hamartomas nephroblastomatosis and fetal gigantism
* Renal hypouricemia
* Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA
* Renier Gabreels Jasper syndrome
* Renpenning syndrome 1
* Reticular dysgenesis
* 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, mental retardation, and hypogonadism
* Retinitis pigmentosa-deafness syndrome
* Retinopathy pigmentary mental retardation
* Rett syndrome
* Revesz syndrome
* Rhizomelic chondrodysplasia punctata type 1
* Rhizomelic chondrodysplasia punctata type 2
* Rhizomelic dysplasia Patterson Lowry type
* Rhizomelic syndrome
* RHYNS syndrome
* Richards-Rundle syndrome
* Richieri Costa Pereira syndrome
* Right ventricle hypoplasia
* Rigid spine syndrome
* Ring chromosome 1
* Ring chromosome 10
* Ring chromosome 12
* Ring chromosome 13
* Ring chromosome 14
* Ring chromosome 15
* Ring chromosome 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
* Roberts syndrome
* Robinow Sorauf syndrome
* Robinow syndrome
* Robinson Miller Bensimon 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
* Rud Syndrome
* Russell-Silver syndrome
* Rutherfurd syndrome
* Ruvalcaba syndrome
* Ruzicka Goerz Anton syndrome
* Sabinas brittle hair syndrome
* Saccharopinuria
* Sacral defect with anterior meningocele
* Sacral hemangiomas multiple congenital abnormalities
* Sacral meningocele conotruncal heart defects
* Saethre-Chotzen syndrome
* Saito Kuba Tsuruta syndrome
* Sakati syndrome
* Sakoda complex
* Salcedo syndrome
* Sallis Beighton syndrome
* 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
* Schaap Taylor Baraitser syndrome
* Schaefer Stein Oshman syndrome
* Schimke immunoosseous dysplasia
* Schindler disease, type 1
* Schinzel Giedion syndrome
* Schisis association
* Schizencephaly