Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program A/4

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program





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Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• Anonychia total with microcephaly
• Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
• Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
• ANOP2 (formerly) - See Oculofaciocardiodental syndrome
• Anophthalmia cleft palate micrognathia
• Anophthalmia clinical with associated anomalies - See Syndromic microphthalmia, type 3
• Anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia - SeeMicrophthalmia syndromic 6
• Anophthalmia esophageal atresia cryptorchidism
• Anophthalmia esophageal genital syndrome - See Syndromic microphthalmia, type 3
• Anophthalmia megalocornea cardiopathy skeletal anomalies
• Anophthalmia microphthalmia esophageal atresia - See Syndromic microphthalmia, type 3
• Anophthalmia plus syndrome
• Anophthalmia Waardenburg syndrome - See Anophthalmos with limb anomalies
• Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder - See Anophthalmia plus syndrome
• Anophthalmia/microphthalmia and pulmonary hypoplasia - See Microphthalmia syndromic 9
• Anophthalmos with limb anomalies
• Anophthalmos-syndactyly - See Anophthalmos with limb anomalies
• Anorchia
• Anorectal Malformations - See Imperforate anus
• Anosmic hypogonadism - See Kallmann syndrome
• Anosmic idiopathic hypogonadotropic hypogonadism - See Kallmann syndrome
• ANOTHER syndrome - See Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
• Anotia facial palsy cardiac defect
• Anotia/microtia, upslanted fissures, sutural synostosis,multiple - See Wisconsin syndrome
• ANSD - See Auditory neuropathy spectrum disorder
• Antecubital pterygium
• Antenatal Bartter Syndrome type 1 - See Bartter syndrome antenatal type 1
• Antenatal diethylstilbestrol exposure - See Diethylstilbestrol syndrome
• Antenatal indomethacin exposure - See Fetal indomethacin syndrome
• Anterior cervical hypertrichosis - See Isolated anterior cervical hypertrichosis
• Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis - See Jung Wolff Back Stahl syndrome
• Anterior ischemic optic neuropathy
• Anterior pituitary insufficiency, familial
• Anterior segment developmental anomaly - See Anterior segment dysgenesis
• Anterior segment dysgenesis
• Anterior segment mesenchymal dysgenesis - See Anterior segment dysgenesis
• Anterior segment ocular dysgenesis - See Anterior segment dysgenesis
• Anterior spinal artery stroke
• Anterior submucous laryngeal cleft (subtype) - See Laryngeal cleft
• Anterior uveitis
• Anthrax
• Anthrax, skin type - See Cutaneous anthrax
• Antibody Deficiency - See Primary agammaglobulinemia
• Anti-C1q vasculitis - See Hypocomplementemic urticarial vasculitis
• Antigen-peptide-transporter 2 deficiency
• Anti-glomerular basement membrane antibody disease - See Goodpasture syndrome
• Anti-HLA hyperimmunization
• Anti-HMG-CoA myopathy - See Necrotizing autoimmune myopathy
• Anti-IFN-gamma autoantibody syndrome - See Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
• Anti-Jo1 syndrome - See Antisynthetase syndrome
• Antineutrophil cytoplasmic antibody-associated vasculitis - See ANCA-associated vasculitis
• Anti-neutrophil cytoplasmic antibody-associated vasculitis - See ANCA-associated vasculitis
• Antiphospholipid antibody syndrome - See Antiphospholipid syndrome
• Antiphospholipid syndrome
• Anti-PIT-1 antibody syndrome
• Antiplasmin deficiency, congenital - See Anti-plasmin deficiency, congenital
• Anti-plasmin deficiency, congenital
• Antiquitin deficiency - See Pyridoxine-dependent epilepsy
• Anti-SRP myopathy - See Necrotizing autoimmune myopathy
• Antisynthetase syndrome
• Antithrombin deficiency type 2 - See Hereditary antithrombin deficiency type 2
• Antithrombin III Deficiency - See Hereditary antithrombin deficiency
• Antithrombmin III deficiency Type II - See Hereditary antithrombin deficiency type 2
• Antley Bixler syndrome
• Anton-Babinski syndrome - See Anton's syndrome
• Antoni's palsy - See Bell's palsy
• Anton's syndrome
• Antopol disease - See Danon disease
• ANUG - See Acute necrotizing ulcerative gingivitis
• Anus, imperforate, with hand, foot and ear anomalies - See Townes-Brocks syndrome
• AO2 - See Atelosteogenesis type 2
• AO3 - See Atelosteogenesis type 3
• AOA1 - See Ataxia with oculomotor apraxia type 1
• AOA2 - See Ataxia with Oculomotor Apraxia Type 2
• AOA3 - See Ataxia with oculomotor apraxia type 3
• AOA4 - See Ataxia with oculomotor apraxia type 4
• AOCH - See Acromegaloid features, overgrowth, cleft palate and hernia
• AOI - See Atelosteogenesis type 1
• AOI - See Infantile apnea
• AOII - See Atelosteogenesis type 2
• AOIII - See Atelosteogenesis type 3
• AOM - See Stickler syndrome type 1
• AOMS1 - See Abdominal obesity metabolic syndrome
• AORRP (type) - See Recurrent respiratory papillomatosis
• Aorta-pulmonary artery fistula
• Aortic aneurysm syndrome, Loeys-Dietz type - See Loeys-Dietz syndrome
• Aortic aneurysm, familial thoracic 4
• Aortic aneurysm/aortic dissection and patent ductus arteriosus - See Aortic aneurysm, familial thoracic 4
• Aortic arch anomaly - peculiar facies - intellectual disability
• Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome - See Aortic arch anomaly - peculiar facies - intellectual disability
• Aortic arch anomaly-peculiar facies-intellectual disability syndrome - See Aortic arch anomaly - peculiar facies - intellectual disability
• Aortic arch defects - See Aortic arches defect
• Aortic arch interruption
• Aortic arch syndrome - See Takayasu arteritis
• Aortic arches defect
• Aortic coarctation
• Aortic dissection lentiginosis
• Aortic stenosis - See Aortic valve stenosis
• Aortic supravalvular stenosis - See Supravalvular aortic stenosis
• Aortic valve stenosis
• Aortic valves stenosis of the child
• Aortic-pulmonary window - See Aortopulmonary window
• Aorto-pulmonary artery fistula - See Aorta-pulmonary artery fistula
• Aortopulmonary fistula - See Aorta-pulmonary artery fistula
• Aortopulmonary septal defect - See Aortopulmonary window
• Aortopulmonary window
• Aorto-pulmonary window - See Aortopulmonary window
• AOS - See Adams-Oliver syndrome
• AOT - See Ameloblastoma
• AP4 deficiency syndrome - See Spastic paraplegia 51
• APBD - See Adult polyglucosan body disease
• APBN - See Adult polyglucosan body disease
• APC resistance, Leiden type - See Factor V Leiden thrombophilia - not a rare disease
• APCA - See Episodic ataxia with nystagmus
• APD - See Autoimmune progesterone dermatitis
• APDS - See PASLI disease
• Apert syndrome
• Apert syndrome with polydactyly of hands and feet - See Maroteaux Fonfria syndrome
• Apert-Crouzon disease - See Apert syndrome
• Aphakia, congenital primary - See Congenital primary aphakia
• Aphalangia partial with syndactyly and duplication of metatarsal IV
• Aphalangy of the hands and feet, hemivertebrae, and visceral malformations - See Johnson Munson syndrome
• Aphalangy with Hemivertebrae - See Johnson Munson syndrome
• Aphasia, primary progressive - See Primary progressive aphasia
• Aphthous stomatitis
• Aphthous Stomatitis, Recurrent - See Sutton disease 2
• Aphthous Ulcer, Recurrent - See Sutton disease 2
• Apical ballooning syndrome - See Broken heart syndrome
• Apical dystrophy - See Coloboma of macula with type B brachydactyly
• APL - See Barraquer-Simons syndrome
• Aplasia cutis cleft palate epidermolysis - See Jones Hersh Yusk syndrome
• Aplasia cutis congenita
• Aplasia cutis congenita intestinal lymphangiectasia
• Aplasia cutis congenita nonsyndromic - See Aplasia cutis congenita
• Aplasia cutis congenita of limbs recessive
• Aplasia cutis congenita with epibulbar dermoids - See Oculoectodermal syndrome
• Aplasia cutis congenita with gastrointestinal atresia - See Epidermolysis bullosa
• Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly - See Jones Hersh Yusk syndrome
• Aplasia cutis myopia
• Aplasia of cerebellar vermis - See Spinocerebellar ataxia 29
• Aplasia of the cord - See Limb-body wall complex
• Aplasia of tibia with ectrodactyly - See Cleft hand absent tibia
• Aplasia of trochlea of the humerus - See Trochlea of the humerus aplasia of
• Aplastic anemia
• Aplastic anemia idiopathic - See Aplastic anemia
• APML - See Acute promyelocytic leukemia
• APMPPE - See Acute posterior multifocal placoid pigment epitheliopathy
• APMR1 - See Alopecia-intellectual disability syndrome
• APMR2 - See Alopecia intellectual disability syndrome 2
• Apnea of infancy - See Infantile apnea
• Apnea, Postanesthetic - See Pseudocholinesterase deficiency
• Apo A-I deficiency
• APOC2 deficiency - See Apolipoprotein C-II deficiency
• Apocrine carcinoma
• Apocrine miliaria - See Fox-Fordyce disease
• Apolipoprotein B deficiency - See Abetalipoproteinemia
• Apolipoprotein C-II deficiency
• Apparent Apert syndrome with polydactyly - See Maroteaux Fonfria syndrome
• Apparent mineralocorticoid excess
• Appelt-Gerken-Lenz syndrome - See Roberts syndrome
• Apple peel small bowel syndrome - See Jejunal atresia
• Apple peel syndrome - See Atresia of small intestine
• Apple peel syndrome - See Jejunal atresia
• Apple-peel intestinal atresia - See Jejunal atresia
• Apraxia
• Apraxia, oculomotor, with congenital contractures and muscle atrophy - See Intellectual disability-developmental delay-contractures syndrome
• Aprosencephaly syndrome - See XK aprosencephaly
• Aprosencephaly-atelencephaly syndrome - See XK aprosencephaly
• APRT deficiency - See Dihydroxyadeninuria
• APS - See Antiphospholipid syndrome
• APS 1 - See Autoimmune polyglandular syndrome type 1
• APS2 - See Autoimmune polyglandular syndrome type 2
• APS3 - See Autoimmune polyglandular syndrome type 3
• APSB - See Jejunal atresia
• APVR - See Pulmonary venous return anomaly
• Aquagenic keratoderma - See Aquagenic syringeal acrokeratoderm
• Aquagenic Palmoplantar Keratoderma - See Aquagenic syringeal acrokeratoderm
• Aquagenic pruritus
• Aquagenic syringeal acrokeratoderm
• Aquagenic urticaria
• Aquagenic wrinkling of the hands - See Aquagenic syringeal acrokeratoderm
• Aquagenic wrinkling of the palms - See Aquagenic syringeal acrokeratoderm
• Aqueductal stenosis, X-linked - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
• AR dRTA with hearing loss - See Renal tubular acidosis with deafness
• AR dRTA wth deafness - See Renal tubular acidosis with deafness
• AR hyperimmunoglobulin E syndrome - See Autosomal recessive hyper IgE syndrome
• Arachindonic acid, absence of
• Arachnodactyly - intellectual disability - dysmorphism
• Arachnodactyly, abnormal ossification and mental retardation - See Kosztolanyi syndrome
• Arachnodactyly, contractural Beals type - See Congenital contractural arachnodactyly
• Arachnodactyly, joint laxity, and spondylolisthesis - See Jaffer Beighton syndrome
• Arachnodactyly, receding lower jaw and joint laxity of hands/feet - See Achard syndrome
• Arachnodactyly-intellectual disability-dysmorphism syndrome - See Arachnodactyly - intellectual disability - dysmorphism
• Arachnoid cysts
• Arachnoid cysts, intracranial - See Arachnoid cysts
• Arachnoid cysts, spinal intradural - See Spinal intradural arachnoid cysts
• Arachnoiditis
• Arakawa syndrome 1 - See Glutamate formiminotransferase deficiency
• Aran Duchenne spinal muscular atrophy - See Adult progressive spinal muscular atrophy Aran Duchenne type
• ARAN-NM - See Autosomal recessive axonal neuropathy with neuromyotonia
• Arbovirosis
• Arbovirus A Chikungunya type - See Chikungunya
• Arbovirus fever - See Arbovirosis
• ARC syndrome - See Arthrogryposis renal dysfunction cholestasis syndrome
• ARCA1 - See Spinocerebellar ataxia autosomal recessive 8
• ARCA2 - See Autosomal recessive spinocerebellar ataxia 9
• ARCL2A - See Cutis laxa, autosomal recessive type 2A
• AR-CMT1 - See Charcot-Marie-Tooth disease type 4
• ARCMT2K - See Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
• ARCMT2-NM - See Autosomal recessive axonal neuropathy with neuromyotonia
• AR-CNM - See Autosomal recessive centronuclear myopathy
• ARDS - See Acute respiratory distress syndrome
• AREDYLD
• Aredyld Syndrome - See AREDYLD
• Aregenerative anemia chronic congenital - See Diamond-Blackfan anemia
• Arena syndrome
• ARG1 deficiency - See Arginase deficiency
• Arginase deficiency
• Arginine:glycine amidinotransferase deficiency - See L-arginine:glycine amidinotransferase deficiency
• Argininemia - See Arginase deficiency
• Arginino succinase deficiency - See Argininosuccinic aciduria
• Argininosuccinate acidemia - See Argininosuccinic aciduria
• Argininosuccinate lyase deficiency - See Argininosuccinic aciduria
• Argininosuccinate synthetase deficiency - See Citrullinemia type I
• Argininosuccinic acid lyase deficiency - See Argininosuccinic aciduria
• Argininosuccinic aciduria
• Argininosuccinicaciduria - See Argininosuccinic aciduria
• Argonz Ahumada Del Castillo syndrome - See Ahumada Del Castillo syndrome
• Argonz Del Castillo syndrome - See Ahumada Del Castillo syndrome
• Argyrophil myenteric plexus deficiency of - See Visceral neuropathy familial
• AR-HIES - See Autosomal recessive hyper IgE syndrome
• Arhinia choanal atresia microphthalmia
• Arias syndrome - See Crigler-Najjar syndrome type 2
• ARIH - See Ichthyosis with hypotrichosis, autosomal recessive
• Arima syndrome - See Joubert syndrome with oculorenal anomalies
• Aristolochic acid nephropathy - See Balkan endemic nephropathy
• Arkless-Graham syndrome - See Acrodysostosis
• ARM - See Macular degeneration - not a rare disease
• ARMS - See Rhabdomyosarcoma alveolar
• Arndt-Gottron disease - See Scleromyxedema
• Arnold Chiari malformation - See Chiari malformation - not a rare disease
• Arnold Chiari malformation type I - See Chiari malformation type 1 - not a rare disease
• Arnold Chiari malformation type II - See Chiari malformation type 2
• Arnold Chiari malformation type III - See Chiari malformation type 3
• Arnold Chiari malformation type IV - See Chiari malformation type 4
• Arnold Stickler Bourne syndrome
• Arnold-Chiari malformation - See Chiari malformation type 2
• Arnold-Chiari malformations - See Chiari malformation - not a rare disease
• AROMATASE ACTIVITY, INCREASED - See Aromatase excess syndrome
• Aromatase deficiency
• Aromatase excess syndrome
• Aromatic amino acid decarboxylase deficiency - See Aromatic L-amino acid decarboxylase deficiency
• Aromatic L-amino acid decarboxylase deficiency
• ARPA familial - See Anomalous origin of right pulmonary artery familial
• arPEO - See Progressive external ophthalmoplegia, autosomal recessive 1
• ARPKD - See Autosomal recessive polycystic kidney disease
• Arrest of spermatogenesis - See Spermatogenesis arrest
• Arrhenoblastoma - See Sertoli-leydig cell tumors
• Arrhenoblastoma of ovary - See Sertoli-leydig cell tumors
• Arrhinia
• Arrhythmogenic right ventricular cardiomyopathy - See Arrhythmogenic right ventricular dysplasia
• Arrhythmogenic right ventricular dysplasia
• Arroyo Garcia Cimadevilla syndrome
• ARSA deficiency - See Metachromatic leukodystrophy
• ARSACS - See Spastic ataxia Charlevoix-Saguenay type
• ARSB deficiency - See Mucopolysaccharidosis type VI
• Arterial calcification and distal joint calcification - See ACDC
• Arterial calcification due to CD73 deficiency - See ACDC
• Arterial calcification due to deficiency of CD73 - See ACDC
• Arterial calcification of infancy
• Arterial tortuosity - See Arterial tortuosity syndrome
• Arterial tortuosity syndrome
• Arteriohepatic dysplasia - See Alagille syndrome
• Arteriomesenteric duodenal compression syndrome - See Superior mesenteric artery syndrome
• Arteriosclerosis, retina - See Retinopathy, arteriosclerotic
• Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes - See Wyburn-Mason syndrome
• Arteriovenous malformation, pulmonary - See Pulmonary arteriovenous malformation
• Arteritis cranialis - See Giant cell arteritis
• Arteritis temporalis - See Giant cell arteritis
• Arthogryposis with oculomotor limitation and electroretinal abnormalities - See Distal arthrogryposis type 5
• Arthritis, juvenile rheumatoid - See Juvenile idiopathic arthritis - not a rare disease
• Arthrochalasia EDS - See Arthrochalasia Ehlers-Danlos syndrome
• Arthrochalasia Ehlers-Danlos syndrome
• Arthrochalasis multiplex congenita - See Arthrochalasia Ehlers-Danlos syndrome
• Arthrocutaneouveal granulomatosis - See Blau syndrome
• Arthrodentoosteodysplasia - See Acroosteolysis dominant type
• Arthrogryposis - See Arthrogryposis multiplex congenita
• Arthrogryposis - ectodermal dysplasia - other anomalies - See Stoll Alembik Finck syndrome
• Arthrogryposis - renal dysfunction - cholestasis - See Arthrogryposis renal dysfunction cholestasis syndrome
• Arthrogryposis and ectodermal dysplasia
• Arthrogryposis distal type 2A - See Freeman Sheldon syndrome
• Arthrogryposis distal type 3 - See Gordon syndrome
• Arthrogryposis distal type 7 - See Trismus-pseudocamptodactyly syndrome
• Arthrogryposis due to muscular dystrophy
• Arthrogryposis epileptic seizures migrational brain disorder
• Arthrogryposis IUGR thoracic dystrophy
• Arthrogryposis like disorder
• Arthrogryposis multiplex congenita
• Arthrogryposis multiplex congenita associated with lissencephaly - See Massa Casaer Ceulemans syndrome
• Arthrogryposis multiplex congenita CNS calcification
• Arthrogryposis multiplex congenita distal - See Distal arthrogryposis
• Arthrogryposis multiplex congenita distal type 1 - See Distal arthrogryposis type 1
• Arthrogryposis multiplex congenita distal type 2B - See Sheldon-Hall syndrome
• Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities - See Sheldon-Hall syndrome
• Arthrogryposis multiplex congenita Escobar variant form - See Escobar syndrome, type B
• Arthrogryposis multiplex congenita neurogenic type
• Arthrogryposis multiplex congenita pulmonary hypoplasia
• Arthrogryposis multiplex congenita whistling face
• Arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder - See Arthrogryposis epileptic seizures migrational brain disorder
• Arthrogryposis multiplex congenita with pulmonary hypoplasia - See Fetal akinesia deformation sequence
• Arthrogryposis multiplex congenita, distal, X-linked
• Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings - SeeArthrogryposis multiplex congenita pulmonary hypoplasia
• Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis - See Arthrogryposis renal dysfunction cholestasis syndrome
• Arthrogryposis multiplex congenita-whistling face syndrome - See Arthrogryposis multiplex congenita whistling face
• Arthrogryposis multiplex with deafness, inguinal hernias, and early death
• Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome - See Distal arthrogryposis type 5
• Arthrogryposis ophthalmoplegia retinopathy - See Distal arthrogryposis type 5
• Arthrogryposis renal dysfunction cholestasis syndrome
• Arthrogryposis spinal muscular atrophy
• Arthrogryposis with Hyperkeratosis - See Johnston Aarons Schelley syndrome
• Arthrogryposis with oculomotor limitation and electroretinal abnormalities - See Distal arthrogryposis type 5
• Arthrogryposis, distal, type 6 - See Arthrogryposis-like hand anomaly and sensorineural deafness
• Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
• Arthrogryposis-like disorder - See Kuskokwim disease
• Arthrogryposis-like hand anomaly and sensorineural deafness
• Arthrogryposis-like syndrome - See Kuskokwim disease
• Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome - See Distal arthrogryposis type 5
• Arthrogryposis-renal dysfunction-cholestasis syndrome - See Arthrogryposis renal dysfunction cholestasis syndrome
• Arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digits - See Spranger Schinzel Myers syndrome
• Arthro-Onychodysplasia - See Nail-patella syndrome
• Arthroophthalmopathy, hereditary progressive - See Stickler syndrome type 1
• Arthropathy camptodactyly syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome
• Arthropathy, progressive pseudorheumatoid, of childhood - See Progressive pseudorheumatoid dysplasia
• Arthropathy-camptodactyly syndrome - See Camptodactyly arthropathy coxa vara pericarditis syndrome
• Arthrosis, flat face, hypotonia, short neck and macrocephaly - See Kniest like dysplasia lethal
• Articular hypermobility syndrome - See Familial joint instability syndrome
• Articulatory apraxia - See Childhood apraxia of speech
• Artificial joint infection - See Prosthetic joint infection
• ARTS - See Arts syndrome
• Arts syndrome
• ARVC - See Arrhythmogenic right ventricular dysplasia
• ARVD - See Arrhythmogenic right ventricular dysplasia
• ARX-related intellectual disability
• Arylamine n-acetyltransferase 1 - See N acetyltransferase deficiency
• Arylsulfatase A deficiency - See Metachromatic leukodystrophy
• Arylsulfatase B deficiency - See Mucopolysaccharidosis type VI
• Arylsulfatase E deficiency - See Chondrodysplasia punctata 1, X-linked recessive
• AS - See Angelman syndrome
• AS syndrome - See Antisynthetase syndrome
• ASA deficiency - See Argininosuccinic aciduria
• ASAT - See Anemia sideroblastic and spinocerebellar ataxia
• Asbestosis
• ASC - See Broken heart syndrome
• Ascher Syndrome
• Ascher's syndrome - See Ascher Syndrome
• Ascitis, splenomegaly, lymphadenopathy - See Tang Hsi Ryu syndrome
• ASCT1 deficiency - See Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
• ASD - See Autism spectrum disorder - not a rare disease
• ASD coronary sinus - See Atrial septal defect coronary sinus
• ASD ostium primum type - See Atrial septal defect ostium primum
• ASD ostium secundum type - See Ostium secundum atrial septal defect
• ASDP - See Anal sphincter dysplasia
• Aseptic abscesses syndrome - See Corticosteroid-sensitive aseptic abscesses
• Aseptic necrosis of the tarsal bone - See Kohler disease
• Aseptic systemic abscesses - See Corticosteroid-sensitive aseptic abscesses
• Asherman syndrome - See Asherman's syndrome
• Asherman's syndrome
• Askin’s tumor (PNET of the chest wall) (type) - See Ewing's family of tumors
• ASL deficiency - See Argininosuccinic aciduria
• ASMD - See Anterior segment dysgenesis
• ASOD - See Anterior segment dysgenesis
• ASP deficiency - See Canavan disease
• ASPA deficiency - See Canavan disease
• Aspartoacylase deficiency - See Canavan disease
• Aspartylglucosamidase (AGA) deficiency - See Aspartylglycosaminuria
• Aspartylglucosaminuria - See Aspartylglycosaminuria
• Aspartylglycosaminuria
• ASPED - See Angel shaped phalangoepiphyseal dysplasia
• Asperger disorder - See Asperger syndrome - not a rare disease
• Asperger syndrome - not a rare disease
• Aspergillosis
• Aspergillosis, allergic bronchopulmonary - See Allergic bronchopulmonary aspergillosis
• Aspergillus niger infection
• Aspergillus niger infection, pulmonary - See Aspergillus niger infection
• Asphyxia neonatorum
• Asphyxiating thoracic dystrophy - See Jeune syndrome
• Asplenia syndrome - See Ivemark syndrome
• Asplenia with cardiovascular anomalies - See Ivemark syndrome
• Asprin-like platelet disorder - See Familial platelet disorder with associated myeloid malignancy
• ASPS - See Alveolar soft part sarcoma
• Asrar Facharzt Haque syndrome
• ASS deficiency - See Citrullinemia type I
• ASSA - See Pseudoaminopterin syndrome
• Association of cutaneous vascular malformations and different pigmentary disorders - See Phacomatosis pigmentovascularis
• Association of muscular pseudohypertrophy and hypothyroidism in children - See Kocher-Debre-Semelaigne syndrome
• Association of skeletal defects resembling achondrogenesis with generalized bone sclerosis - SeePyknoachondrogenesis
• Asternia
• Asternia with Cardiac, Diaphragmatic, and Abdominal defects
• Asthma - not a rare disease
• Astley-Kendall dysplasia - See Astley-Kendall syndrome
• Astley-Kendall syndrome
• Astroblastoma
• ASXL2/Shashi-Pena Syndrome - See Shashi-Pena syndrome
• ASXL3/Bainbridge-Ropers Syndrome - See Bainbridge-Ropers syndrome
• Asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia - See Pfeiffer Rockelein syndrome
• Asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia - See Coronal synostosis, syndactyly and jejunal atresia
• Asymmetry in the pigmentation of the irides - See Heterochromia iridis - not a rare disease
• Asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes - SeeInfantile digital fibromatosis
• AT - See Ataxia telangiectasia
• Ataxia - hypogonadism - choroidal dystrophy
• Ataxia telangiectasia
• Ataxia with isolated vitamin E deficiency - See Ataxia with vitamin E deficiency
• Ataxia with lactic acidosis 1 - See Pyruvate decarboxylase deficiency
• Ataxia with lactic acidosis 2 - See Pyruvate carboxylase deficiency
• Ataxia with oculomotor apraxia type 1
• Ataxia with Oculomotor Apraxia Type 2
• Ataxia with oculomotor apraxia type 3
• Ataxia with oculomotor apraxia type 4
• Ataxia with vitamin E deficiency
• Ataxia, chorea, seizures, and dementia - See Dentatorubral-pallidoluysian atrophy
• Ataxia, familial, paroxysmal - See Episodic ataxia with nystagmus
• Ataxia, harding type - See Harding ataxia
• Ataxia, hearing loss, and mental retardation - See Reardon Wilson Cavanagh syndrome
• Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency - See Pyruvate decarboxylase deficiency
• Ataxia-deafness syndrome X-linked - See Spinocerebellar ataxia X-linked type 3
• Ataxia-deafness-retardation syndrome - See Reardon Wilson Cavanagh syndrome
• Ataxia-deafness-retardation syndrome with ketoaciduria - See Richards-Rundle syndrome
• Ataxia-dementia syndrome X-linked - See Spinocerebellar ataxia X-linked type 4
• Ataxia-hypogonadism-choroidal dystrophy syndrome - See Ataxia - hypogonadism - choroidal dystrophy
• Ataxia-oculomotor apraxia 1 - See Ataxia with oculomotor apraxia type 1
• Ataxia-oculomotor apraxia 3 - See Ataxia with oculomotor apraxia type 3
• Ataxia-oculomotor apraxia type 1 - See Ataxia with oculomotor apraxia type 1
• Ataxia-oculomotor apraxia type 2 - See Ataxia with Oculomotor Apraxia Type 2
• Ataxia-oculomotor apraxia type 4 - See Ataxia with oculomotor apraxia type 4
• Ataxia-oculomotor apraxia-4 - See Ataxia with oculomotor apraxia type 4
• Ataxia-pancytopenia syndrome - See Myelocerebellar disorder
• Ataxia-Telangiectasia variant V1 - See Nijmegen breakage syndrome
• Ataxia-telangiectasia-like syndrome - See Ataxia with oculomotor apraxia type 1
• Ataxic cerebral palsy - See Cerebral palsy ataxic
• Ataxo-opso-myoclonus syndrome - See Opsoclonus-myoclonus syndrome
• ATD - See Jeune syndrome
• Atelosteogenesis II - See Atelosteogenesis type 2
• Atelosteogenesis type 1
• Atelosteogenesis type 2
• Atelosteogenesis type 3
• ATFB - See Familial atrial fibrillation
• Athabaskan brainstem dysgenesis
• Athabaskan Brainstem Dysgenesis Syndrome - See Athabaskan brainstem dysgenesis
• A-Thalassemia - See Alpha-thalassemia
• Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease - See Feigenbaum Bergeron Richardson syndrome
• Athetoid cerebral palsy - See Cerebral palsy athetoid
• Athetosis
• Atkin syndrome
• Atkin-Flaitz syndrome - See Atkin syndrome
• Atlantoaxial Fusion - See Atlanto-Axial Fusion
• Atlanto-Axial Fusion
• Atlantoaxial joint fusion - See Atlanto-Axial Fusion
• ATLL - See Adult T-cell leukemia/lymphoma
• ATN - See Oculocutaneous albinism type 1
• ATR, nondeletion type - See Alpha-thalassemia x-linked intellectual disability syndrome
• Atransferrinemia
• Atresia of small intestine
• Atresia of small intestine - See Jejunal atresia
• Atrial fibrillation autosomal dominant - See Familial atrial fibrillation
• Atrial fibrillation, familial - See Familial atrial fibrillation
• Atrial myxoma, familial
• Atrial septal defect coronary sinus
• Atrial septal defect ostium primum
• Atrial septal defect sinus venosus
• Atrio digital syndrome - See Holt-Oram syndrome
• Atriodigital dysplasia - See Holt-Oram syndrome
• Atrio-ventricular and ventriculo-arterial double discordia - See Double discordia
• Atrioventricular septal defect
• Atrophia bulborum hereditaria - See Norrie disease
• Atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles - SeePalmoplantar keratoderma-sclerodactyly syndrome
• Atrophic lichen planus
• Atrophic LP - See Atrophic lichen planus
• Atrophic papulosis, malignant - See Degos disease
• Atrophie blanche - See Muscular dystrophy white matter spongiosis
• Atrophoderma of Pierini and Pasini
• Atrophoderma vermiculata
• Atrophoderma vermiculatum - See Atrophoderma vermiculata
• Atrophodermia reticulata - See Atrophoderma vermiculata
• Atrophodermia reticulata symmetrica faciei - See Atrophoderma vermiculata
• Atrophodermia vermiculata - See Atrophoderma vermiculata
• ATRX syndrome - See Alpha-thalassemia x-linked intellectual disability syndrome
• ATS - See Arterial tortuosity syndrome
• ATS-DL - See Leiomyomatosis, esophageal and vulval, with nephropathy
• Attenuated adenomatous polyposis coli - See Attenuated familial adenomatous polyposis
• Attenuated congenital adrenal hyperplasia - See Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - not a rare disease
• Attenuated familial adenomatous polyposis
• Attenuated familial polyposis coli - See Attenuated familial adenomatous polyposis
• Attenuated FAP - See Attenuated familial adenomatous polyposis
• Attenuated MPS (subtype; formerly known as mild MPS II) - See Mucopolysaccharidosis type II
• Attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome) - See Mucopolysaccharidosis type I
• Atypical childhood HUS - See Hemolytic uremic syndrome, atypical, childhood
• Atypical Gaucher disease due to saposin C deficiency - See Gaucher disease
• Atypical hemolytic uremic syndrome
• Atypical HUS - See Atypical hemolytic uremic syndrome
• Atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality - See Alsing syndrome
• Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract - See Methylmalonic aciduria microcephaly cataract
• Atypical mycobacterial infection, disseminated - See Atypical mycobacteriosis, familial
• Atypical mycobacterial infection, familial disseminated - See Atypical mycobacteriosis, familial
• Atypical mycobacteriosis, familial
• Atypical neuroaxonal dystrophy - See Karak syndrome
• Atypical osteomalacia involving the axial skeleton - See Axial osteomalacia
• Atypical Philadelphia-negative chronic myeloid leukemia - See PDGFRB-associated chronic eosinophilic leukemia
• Atypical progeroid syndrome - See Atypical Werner syndrome
• Atypical PSP - See Progressive supranuclear palsy atypical
• Atypical Rett syndrome
• Atypical teratoid rhabdoid tumor - See Rhabdoid tumor
• Atypical Werner syndrome
• AU - See Alopecia universalis
• Auditory dyssynchrony - See Auditory neuropathy spectrum disorder
• Auditory dys-synchrony - See Auditory neuropathy spectrum disorder
• Auditory neuropathy - See Auditory neuropathy spectrum disorder
• Auditory neuropathy spectrum disorder
• Aughton Sloan Milad syndrome - See Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia
• Aughton syndrome - See Dextrocardia with unusual facies and microphthalmia
• Aur syndrome - See Sackey Sakati Aur syndrome
• Aural cephalosyndactyly - See Auralcephalosyndactyly
• Auralcephalosyndactyly
• Auriculocondylar syndrome - See Auriculo-condylar syndrome
• Auriculo-condylar syndrome
• Auriculoosteodysplasia
• Auriculo-osteodysplasia - See Auriculoosteodysplasia
• Auriculotemporal nerve syndrome - See Frey's syndrome
• Auriculoventricular accessory pathway syndrome - See Wolff-Parkinson-White syndrome - not a rare disease
• Ausems Wittebol-Post Hennekam syndrome
• Autism spectrum disorder - not a rare disease
• Autism with port-wine stain
• Autism, dementia, ataxia, and loss of purposeful hand use - See Rett syndrome
• Autoerythrocyte sensitization - See Gardner-Diamond syndrome
• Autoerythrocyte sensitization purpura - See Gardner-Diamond syndrome
• Autoerythrocyte sensitization syndrome - See Gardner-Diamond syndrome
• Autoimmune atrophic gastritis - not a rare disease
• Autoimmune autonomic ganglionopathy
• Autoimmune Autonomic Neuropathy - See Autoimmune autonomic ganglionopathy
• Autoimmune chronic hepatitis - See Autoimmune hepatitis
• Autoimmune disease, syndromic multisystem - See ITCH E3 ubiquitin ligase deficiency
• Autoimmune encephalitis
• Autoimmune enteropathy
• Autoimmune gastrointestinal dysmotility
• Autoimmune hemolytic anemia
• Autoimmune hemolytic anemia and autoimmune thrombocytopenia - See Evans syndrome
• Autoimmune hepatitis
• Autoimmune hypophysitis - See Lymphocytic hypophysitis
• Autoimmune Inner Ear disease
• Autoimmune lymphoproliferative syndrome
• Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• Autoimmune lymphoproliferative syndrome type 1, autosomal dominant - See Autoimmune lymphoproliferative syndrome
• Autoimmune lymphoproliferative syndrome type 2B - See Caspase-8 deficiency
• Autoimmune lymphoproliferative syndrome type 5 - See Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• Autoimmune lymphoproliferative syndrome type V - See Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• Autoimmune lymphoproliferative syndrome without FAS mutations - See Dianzani autoimmune lymphoproliferative syndrome
• Autoimmune lymphoproliferative syndrome, type V - See Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
• Autoimmune myocarditis
• Autoimmune necrotizing myositis - See Necrotizing autoimmune myopathy
• Autoimmune oophoritis
• Autoimmune pancreatitis
• Autoimmune polyendocrine syndrome type 1 - See Autoimmune polyglandular syndrome type 1
• Autoimmune polyendocrine syndrome type 2 - See Autoimmune polyglandular syndrome type 2
• Autoimmune polyendocrine syndrome type 3 - See Autoimmune polyglandular syndrome type 3
• Autoimmune polyendocrinopathy syndrome type 1 - See Autoimmune polyglandular syndrome type 1
• Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) - See Autoimmune polyglandular syndrome type 1
• Autoimmune polyglandular syndrome type 1
• Autoimmune polyglandular syndrome type 2
• Autoimmune polyglandular syndrome type 3
• Autoimmune polyglandular syndrome type I - See Autoimmune polyglandular syndrome type 1
• Autoimmune polyglandular syndrome type II - See Autoimmune polyglandular syndrome type 2
• Autoimmune polyglandular syndrome type III - See Autoimmune polyglandular syndrome type 3
• Autoimmune progesterone dermatitis
• Autoimmune pulmonary alveolar proteinosis
• Autoimmune retinopathy
• Autoimmune thrombocytopenic purpura - See Idiopathic thrombocytopenic purpura
• Autoimmune thyroiditis - See Hashimoto's syndrome - not a rare disease
• Autoimmune vasculitis - See Vasculitis - not a rare disease
• Autoimmunity-immunodeficiency syndrome x-linked - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
• Autoinflammation, panniculitis, and dermatosis syndrome - See Otulipenia
• Autosomal agammaglobulinemia - See Agammaglobulinemia, non-Bruton type
• Autosomal dominant acute necrotizing encephalopathy - See Infection-induced acute encephalopathy 3
• Autosomal dominant adult-onset demyelinating leukodystrophy - See Autosomal dominant leukodystrophy with autonomic disease
• Autosomal dominant Alport syndrome
• Autosomal dominant angioma serpiginosum - See Angioma serpiginosum, autosomal dominant
• Autosomal dominant atrial fibrillation - See Familial atrial fibrillation
• Autosomal dominant axonal Charcot-Marie-Tooth disease - See Charcot-Marie-Tooth disease type 2
• Autosomal dominant blepharophimosis with multiple congenital anomalies - See Krieble Bixler syndrome
• Autosomal dominant brachyolmia - See Brachyolmia type 3
• Autosomal dominant café au lait spots
• Autosomal dominant centronuclear myopathy
• Autosomal dominant cerebellar ataxia
• Autosomal dominant cerebellar ataxia type 2 - See Spinocerebellar ataxia 7
• Autosomal dominant cerebellar ataxia with mental retardation - See Spinocerebellar ataxia 13
• Autosomal dominant cerebellar ataxia, deafness and narcolepsy - See Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
• Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
• Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome - See Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
• Autosomal dominant Charcot-Marie-Tooth disease type 2 - See Charcot-Marie-Tooth disease type 2
• Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
• Autosomal dominant Charcot-Marie-Tooth disease type 2L - See Charcot-Marie-Tooth disease
• Autosomal dominant Charcot-Marie-Tooth disease type 2N - See Charcot-Marie-Tooth disease
• Autosomal dominant Charcot-Marie-Tooth disease type 2O - See Charcot-Marie-Tooth disease
• Autosomal dominant Charcot-Marie-Tooth disease type 2Q - See Charcot-Marie-Tooth disease
• Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2
• Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• Autosomal dominant compelling helio ophthalmic outburst syndrome
• Autosomal dominant cutis laxa - See Cutis laxa, autosomal dominant
• Autosomal dominant deafness-onychodystrophy syndrome
• Autosomal dominant deafness-onychodystrophy syndrome - See Autosomal dominant deafness-onychodystrophy syndrome
• Autosomal dominant demyelinating Charcot-Marie-Tooth disease - See Charcot-Marie-Tooth disease type 1
• Autosomal dominant diffuse Lewy body disease - See Lewy body dementia - not a rare disease
• Autosomal dominant dyskeratosis congenita - See Dyskeratosis congenita autosomal dominant
• Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types - See Dominant dystrophic epidermolysis bullosa
• Autosomal dominant familial erythrocytosis-1 - See Primary familial and congenital polycythemia
• Autosomal dominant focal dystonia, DYT25 type - See DYT-GNAL
• Autosomal dominant form of benign neonatal seizures - See Convulsions benign familial neonatal dominant form
• Autosomal dominant hereditary hemochromatosis - See Hemochromatosis type 4
• Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons - See Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
• Autosomal dominant hidrotic ectodermal dysplasia - See Clouston syndrome
• Autosomal dominant hyper IgE syndrome
• Autosomal dominant intellectual disability 1 - See MBD25–related intellectual disability
• Autosomal dominant intellectual disability 20 - See 5q14.3 microdeletion syndrome
• Autosomal dominant intellectual disability 25 - See Xia-Gibbs syndrome
• Autosomal dominant intellectual disability 30
• Autosomal dominant intellectual disability 40
• Autosomal dominant intellectual disability 49
• Autosomal dominant intellectual disability 5 - See SYNGAP1-related non-syndromic intellectual disability
• Autosomal dominant intellectual disability-17 - See PACS1-related syndrome
• Autosomal dominant intellectual disability-43 - See HIVEP2-related intellectual disability
• Autosomal dominant intellectual disability-6 - See GRIN2B related syndrome
• Autosomal dominant intellectual disability-7 - See DYRK1A-Related Intellectual Disability Syndrome
• Autosomal dominant intermediate Charcot-Marie-Tooth
• Autosomal dominant intermediate Charcot-Marie-Tooth disease - See Autosomal dominant intermediate Charcot-Marie-Tooth
• 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 Larsen syndrome - See Larsen syndrome
• Autosomal dominant late-onset retinal degeneration - See Late-onset retinal degeneration
• Autosomal dominant lateral temporal lobe epilepsy - See Autosomal dominant partial epilepsy with auditory features
• Autosomal dominant leukodystrophy with autonomic disease
• Autosomal dominant leukoencephalopathy with neuroaxonal spheroids - See Hereditary diffuse leukoencephalopathy with spheroids
• Autosomal dominant limb-girdle muscular dystrophy type 1C - See Limb-girdle muscular dystrophy
• Autosomal dominant limb-girdle muscular dystrophy type 1D - See Limb-girdle muscular dystrophy
• Autosomal dominant limb-girdle muscular dystrophy type 1E - See Limb-girdle muscular dystrophy
• Autosomal dominant limb-girdle muscular dystrophy type 1F - See Limb-girdle muscular dystrophy
• Autosomal dominant limb-girdle muscular dystrophy type 1G - See Limb-girdle muscular dystrophy
• Autosomal dominant limb-girdle muscular dystrophy type 1H - See Limb-girdle muscular dystrophy
• Autosomal dominant lower extremity-predominant spinal muscular atrophy-1 - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• Autosomal dominant medullary cystic kidney disease - See Autosomal dominant tubulointerstitial kidney disease
• Autosomal dominant medullary cystic kidney disease (former) - See Autosomal dominant tubulointerstitial kidney disease
• Autosomal dominant medullary cystic kidney disease type 2 (former) - See UMOD-related autosomal dominant tubulointerstitial kidney disease
• Autosomal dominant mental retardation 29 - See SETBP1 disorder
• Autosomal dominant methemoglobinemia - See Methemoglobinemia, beta-globin type
• Autosomal dominant microcephaly - See Microcephaly autosomal dominant
• Autosomal dominant multiple pterygium syndrome - See Distal arthrogryposis
• Autosomal dominant nail dysplasia - See Twenty-nail dystrophy
• Autosomal dominant neuronal ceroid lipofuscinosis 4B
• Autosomal dominant nocturnal frontal lobe epilepsy
• Autosomal dominant nonnuclear polymorphic congenital cataract - See Cataract congenital dominant non nuclear
• Autosomal dominant non-syndromic intellectual disability
• Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly - See Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
• Autosomal dominant Opitz G/BBB syndrome - See 22q11.2 deletion syndrome
• Autosomal dominant optic atrophy - See Dominant optic atrophy
• Autosomal dominant optic atrophy and cataract
• Autosomal dominant optic atrophy plus syndrome
• Autosomal dominant optic atrophy type 3 - See Autosomal dominant optic atrophy and cataract
• Autosomal dominant optic atrophy, classic form - See Optic atrophy 1
• Autosomal dominant osteopetrosis type 1 - See Osteopetrosis autosomal dominant type 1
• Autosomal dominant osteopetrosis type 2 - See Osteopetrosis autosomal dominant type 2
• Autosomal dominant osteosclerosis, Worth type - See Worth type autosomal dominant osteosclerosis
• Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia - See Autosomal dominant palmoplantar keratoderma and congenital alopecia
• Autosomal dominant palmoplantar keratoderma and congenital alopecia
• Autosomal dominant Parkinson disease - See Parkinson disease type 3
• Autosomal dominant partial epilepsy with auditory features
• Autosomal dominant polycystic kidney disease - See Polycystic kidney disease - not a rare disease
• Autosomal dominant polycystic kidney disease - not a rare disease
• Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias - See Preaxial deficiency, postaxial polydactyly and hypospadias
• Autosomal dominant primary hypomagnesemia with hypocalciuria - See Renal hypomagnesemia 2
• Autosomal dominant primary microcephaly - See Microcephaly autosomal dominant
• Autosomal dominant pseudohypoaldosteronism type 1
• Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy - See Retinal vasculopathy with cerebral leukodystrophy
• Autosomal dominant retinoschisis - See Retinoschisis autosomal dominant
• Autosomal dominant severe congenital neutropenia - See Severe congenital neutropenia autosomal dominant
• Autosomal dominant SLC4A1-associated distal renal tubular acidosis - See Renal tubular acidosis, distal, autosomal dominant
• Autosomal dominant spastic paraparesis - See Spastic paraplegia 9
• Autosomal dominant spastic paraplegia - See Spastic paraplegia 10
• Autosomal dominant spastic paraplegia 4 - See Spastic paraplegia 4
• Autosomal dominant spastic paraplegia type 17 - See Spastic paraplegia 17
• Autosomal dominant spheroid body myopathy - See Spheroid body myopathy
• Autosomal dominant spinal muscular atrophy with lower extremity predominance - See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1
• Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2
• Autosomal dominant spondyloepiphyseal dysplasia tarda
• Autosomal dominant thoracolaryngopelvic dysplasia - See Thoracolaryngopelvic dysplasia
• Autosomal dominant torsion dystonia-4 - See DYT-TUBB4A
• Autosomal dominant tubulointerstitial kidney disease
• Autosomal dominant tubulointerstitial kidney disease (ADTKD) due to REN mutations - See REN-related autosomal dominant tubulointerstitial kidney disease
• Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations - See MUC1-related autosomal dominant tubulointerstitial kidney disease
• Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related - See UMOD-related autosomal dominant tubulointerstitial kidney disease
• Autosomal dominant type B hypercholesterolemia - not a rare disease
• Autosomal dominant vitreoretinochoroidopathy
• Autosomal recessive adducted thumb-club foot syndrome - See Musculocontractural Ehlers-Danlos syndrome
• Autosomal recessive Alport syndrome
• Autosomal recessive ataxia Beauce type - See Spinocerebellar ataxia autosomal recessive 8
• Autosomal recessive ataxia due to coenzyme Q10 deficiency - See Autosomal recessive spinocerebellar ataxia 9
• Autosomal recessive ataxia due to ubiquinone deficiency - See Autosomal recessive spinocerebellar ataxia 9
• Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K - See Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
• Autosomal recessive axonal CMT4C2 - See Charcot-Marie-Tooth disease
• Autosomal recessive axonal CMT4C4 - See Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
• Autosomal recessive axonal neuropathy with neuromyotonia
• Autosomal recessive bestrophinopathy
• Autosomal recessive centronuclear myopathy
• Autosomal recessive cerebellar ataxia - blindness - deafness - See Spinocerebellar ataxia autosomal recessive 3
• Autosomal recessive cerebellar ataxia type 2 - See Autosomal recessive spinocerebellar ataxia 9
• Autosomal recessive cerebellar ataxia-blindness-deafness syndrome - See Spinocerebellar ataxia autosomal recessive 3
• Autosomal recessive cerebelloparenchymal disorder type 3 - See Cerebelloparenchymal disorder 3
• Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia - See Autosomal recessive axonal neuropathy with neuromyotonia
• Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
• Autosomal recessive congenital hypomyelinating neuropathy - See Charcot-Marie-Tooth disease
• Autosomal recessive congenital hypomyelinating neuropathy - See Congenital hypomyelination neuropathy
• Autosomal recessive deafness-onychodystrophy syndrome - See DOOR syndrome
• Autosomal recessive demyelinating Charcot-Marie-Tooth - See Charcot-Marie-Tooth disease type 4
• Autosomal recessive distal osteolysis syndrome - See Petit-Fryns syndrome
• Autosomal recessive distal renal tubular acidosis - See Renal tubular acidosis, distal, autosomal recessive
• Autosomal recessive distal renal tubular acidosis with deafness - See Renal tubular acidosis with deafness
• Autosomal recessive distal renal tubular acidosis with hearing loss - See Renal tubular acidosis with deafness
• Autosomal recessive dyskeratosis congenita - See Dyskeratosis congenita autosomal recessive
• Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis - See Severe generalized recessive dystrophic epidermolysis bullosa
• Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis - See Recessive dystrophic epidermolysis bullosa-generalized other
• Autosomal recessive dystrophic epidermolysis bullosa, generalized other - See Recessive dystrophic epidermolysis bullosa-generalized other
• Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type - See Severe generalized recessive dystrophic epidermolysis bullosa
• Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly) - See Severe generalized recessive dystrophic epidermolysis bullosa
• Autosomal recessive early-onset IBD - See Autosomal recessive early-onset inflammatory bowel disease
• Autosomal recessive early-onset inflammatory bowel disease - See Autosomal recessive early-onset inflammatory bowel disease
• Autosomal recessive early-onset inflammatory bowel disease
• Autosomal recessive ectodermal dysplasia - See Bustos Simosa Pinto Cisternas syndrome
• Autosomal recessive familial adenomatous polyposis - See MYH-associated polyposis
• Autosomal recessive form of cleidocranial dysostosis - See Cleidocranial dysplasia recessive form
• Autosomal recessive frontotemporal pachygyria - See Pachygyria, frontotemporal
• Autosomal recessive hereditary thrombophilia due to protein C deficiency - See Autosomal recessive protein C deficiency
• Autosomal recessive hyper IgE syndrome
• Autosomal recessive ichthyosis with hypotrichosis - See Ichthyosis with hypotrichosis, autosomal recessive
• Autosomal recessive intellectual disability 58
• Autosomal recessive intermediate Charcot-Marie-Tooth 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 isolated ectopia lentis - See Ectopia lentis, isolated autosomal recessive
• Autosomal recessive juvenile Parkinson disease
• Autosomal recessive lethal chondrodystrophy with congenital hydrops - See Greenberg dysplasia
• Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency - See Limb-girdle muscular dystrophy
• Autosomal recessive limb-girdle muscular dystrophy type 2C - See Limb-girdle muscular dystrophy, type 2C
• Autosomal recessive limb-girdle muscular dystrophy type 2I - See Limb-girdle muscular dystrophy type 2I
• Autosomal recessive limb-girdle muscular dystrophy type 2J - See Limb-girdle muscular dystrophy
• Autosomal recessive limb-girdle muscular dystrophy type 2K - See Limb-girdle muscular dystrophy
• Autosomal recessive limb-girdle muscular dystrophy type 2L - See Limb-girdle muscular dystrophy
• Autosomal recessive limb-girdle muscular dystrophy type 2M - See Limb-girdle muscular dystrophy
• Autosomal recessive limb-girdle muscular dystrophy type 2N - See Limb-girdle muscular dystrophy
• Autosomal recessive limb-girdle muscular dystrophy type 2O - See Limb-girdle muscular dystrophy
• Autosomal recessive limb-girdle muscular dystrophy type 2P - See Limb-girdle muscular dystrophy type 1A
• Autosomal recessive limb-girdle muscular dystrophy type 2Q - See Limb-girdle muscular dystrophy
• Autosomal recessive limb-girdle muscular dystrophy type 2S - See Limb-girdle muscular dystrophy
• Autosomal recessive limb-girdle muscular dystrophy type 2T - See Limb-girdle muscular dystrophy
• Autosomal recessive Melnick-Needles syndrome (formerly) - See Frank Ter Haar syndrome
• Autosomal recessive methemoglobinemia - See Hereditary methemoglobinemia
• Autosomal recessive methemoglobinemia - See NADH cytochrome B5 reductase deficiency
• Autosomal recessive multiple colorectal adenomas - See MYH-associated polyposis
• Autosomal recessive multiple epiphyseal dysplasia - See Multiple epiphyseal dysplasia 4
• Autosomal recessive multiple pterygium syndrome - See Multiple pterygium syndrome Escobar type
• Autosomal recessive neuronal ceroid lipofuscinosis 4A - See Adult neuronal ceroid lipofuscinosis
• Autosomal recessive non-lethal multiple pterygium syndrome - See Multiple pterygium syndrome Escobar type
• Autosomal recessive nonsyndromic congenital nail disorder-4 - See Anonychia congenita
• Autosomal recessive nonsyndromic congenital nuclear cataract
• Autosomal recessive nonsyndromic mental retardation-18 - See MED23
• Autosomal recessive Noonan syndrome - See Noonan syndrome
• Autosomal recessive optic atrophy plus syndrome - See OPA3 defect
• Autosomal recessive optic atrophy type 3 - See OPA3 defect
• Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy
• Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia - See Osteopetrosis autosomal recessive 7
• Autosomal recessive osteopetrosis type 1 - See Osteopetrosis autosomal recessive 1
• Autosomal recessive osteopetrosis type 2 - See Osteopetrosis autosomal recessive 2
• Autosomal recessive osteopetrosis type 3 - See Osteopetrosis autosomal recessive 3
• Autosomal recessive osteopetrosis type 4 - See Osteopetrosis autosomal recessive 4
• Autosomal recessive osteopetrosis type 5 - See Osteopetrosis autosomal recessive 5
• Autosomal recessive osteopetrosis type 6 - See Osteopetrosis autosomal recessive 6
• Autosomal recessive osteopetrosis type 7 - See Osteopetrosis autosomal recessive 7
• Autosomal recessive palmoplantar keratoderma and congenital alopecia
• Autosomal recessive Parkinson disease 9 - See Parkinson disease type 9
• Autosomal recessive polycystic kidney disease
• Autosomal recessive primary microcephaly
• Autosomal recessive progressive external ophthalmoplegia - See Progressive external ophthalmoplegia, autosomal recessive 1
• Autosomal recessive protein C deficiency
• Autosomal recessive pseudohypoaldosteronism type 1
• Autosomal recessive sensorineural hearing impairment and goiter - See Pendred syndrome
• Autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia - See Deafness oligodontia syndrome
• Autosomal recessive spastic ataxia - optic atrophy - dysarthria - See Autosomal recessive spastic ataxia 4
• Autosomal recessive spastic ataxia 4
• Autosomal recessive spastic ataxia of Charlevoix-Saguenay - See Spastic ataxia Charlevoix-Saguenay type
• Autosomal recessive spastic ataxia type 4 - See Autosomal recessive spastic ataxia 4
• Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome - See Autosomal recessive spastic ataxia 4
• Autosomal recessive spastic paraplegia - See Spastic paraplegia 5A
• Autosomal recessive spastic paraplegia 51 - See Spastic paraplegia 51
• Autosomal recessive spastic paraplegia type 11 - See Spastic paraplegia 11
• Autosomal recessive spastic paraplegia type 20 - See Troyer syndrome
• Autosomal recessive spastic paraplegia type 23 - See Spastic paraplegia 23
• Autosomal recessive spastic paraplegia type 32 - See Spastic paraplegia 32
• Autosomal recessive spastic paraplegia type 49
• Autosomal recessive spastic paraplegia-49 - See Autosomal recessive spastic paraplegia type 49
• autosomal recessive spinocerebellar ataxia 8 - See Spinocerebellar ataxia autosomal recessive 8
• Autosomal recessive spinocerebellar ataxia 9
• Autosomal recessive spinocerebellar ataxia type 3 - See Spinocerebellar ataxia autosomal recessive 3
• Autosomal recessive spinocerebellar ataxia type 9 - See Autosomal recessive spinocerebellar ataxia 9
• Autosomal recessive spinocerebellar ataxia-1 - See Ataxia with Oculomotor Apraxia Type 2
• Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome - See Spinocerebellar ataxia autosomal recessive 3
• Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome - See Spinocerebellar ataxia autosomal recessive 3
• Autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes - SeeIrons Bhan syndrome
• Autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia - See Dermatoosteolysis Kirghizian type
• Autosomal recessive thrombophilia due to congenital protein C deficiency - See Autosomal recessive protein C deficiency
• Autosomal recessive thrombophilia due to congenital protein C deficiency - See Protein C deficiency - not a rare disease
• Autosomal recessive thrombophilia due to PC deficiency - See Protein C deficiency - not a rare disease
• Autosomal recessive thrombophilia due to PC deficiency - See Autosomal recessive protein C deficiency
• AUTS14B - See 16p11.2 duplication
• Avascular necrosis of the metacarpal head - See Dieterich's disease
• AVED - See Ataxia with vitamin E deficiency
• Avellino corneal dystrophy - See Corneal dystrophy Avellino type
• AVMD - See Adult-onset vitelliform macular dystrophy
• Axenfeld-Rieger syndrome
• Axial mesodermal dysplasia spectrum
• Axial osteomalacia
• Axial osteosclerosis - See Osteomesopyknosis
• Axial SMD - See Axial spondylometaphyseal dysplasia
• Axial spondylometaphyseal dysplasia
• Axonal Charcot-Marie-Tooth disease with pyramidal involvement - See Charcot-Marie-Tooth disease
• Axonal neuropathy with palmoplantar keratoderma - See Keratoderma palmoplantar spastic paralysis
• AXPC1 - See Posterior column ataxia with retinitis pigmentosa
• Ayazi syndrome
• AZOOR - See Acute zonal occult outer retinopathy
• Azoospermia obstructive and chronic sinopulmonary infections - See Young syndrome
• Azoospermia-sinopulmonary infections syndrome - See Young syndrome
• Azorean neurologic disease - See Spinocerebellar ataxia 3
• Azul - See Pinta