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

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

• Amniotic band syndrome
• Amniotic bands sequence - See Amniotic band syndrome
• Amoebiasis due to Entamoeba histolytica - See Amebiasis
• Amoebiasis due to free-living amoebae
• Amoebic dysentery due to Entamoeba histolytica - See Amebiasis
• AMP deaminase 1 deficiency - See Adenosine monophosphate deaminase 1 deficiency
• AMP deaminase deficiency - See Adenosine monophosphate deaminase 1 deficiency
• AMPD1 deficiency - See Adenosine monophosphate deaminase 1 deficiency
• Ampola syndrome
• AMPPE - See Acute posterior multifocal placoid pigment epitheliopathy
• Ampullary somatostatinoma - See Somatostatinoma
• AMR syndrome 1 - See Alopecia-intellectual disability syndrome
• AMR syndrome 2 - See Alopecia intellectual disability syndrome 2
• AMS - See Ablepharon macrostomia syndrome
• Amylo-1,6-glucosidase deficiency - See Glycogen storage disease type 3
• Amyloid A amyloidosis - See Amyloidosis AA
• Amyloid corneal dystrophy, Japanese type - See Amyloidosis corneal
• Amyloid cranial neuropathy with lattice corneal dystrophy - See Familial amyloidosis, Finnish type
• Amyloid neuropathy
• Amyloidosis 8 - See Amyloidosis familial visceral
• Amyloidosis 9 - See Primary cutaneous amyloidosis
• Amyloidosis AA
• Amyloidosis AL - See AL amyloidosis
• Amyloidosis Beta2M
• Amyloidosis bronchopulmonary
• Amyloidosis cerebral with spongiform encephalopathy - See Gerstmann-Straussler-Scheinker disease
• Amyloidosis corneal
• Amyloidosis cutis nodularis atrophicans - See Amyloidosis nodular localized cutaneous
• Amyloidosis dialysis-related - See Amyloidosis Beta2M
• Amyloidosis familial cutaneous lichen - See Primary cutaneous amyloidosis
• Amyloidosis familial renal - See Amyloidosis familial visceral
• Amyloidosis familial visceral
• Amyloidosis hereditary - See Hereditary amyloidosis
• Amyloidosis IX - See Primary cutaneous amyloidosis
• Amyloidosis nodular localized cutaneous
• Amyloidosis of gingiva and conjunctiva with intellectual disability
• Amyloidosis of gingiva and conjunctiva with mental retardation - See Amyloidosis of gingiva and conjunctiva with intellectual disability
• Amyloidosis primary systemic - See AL amyloidosis
• Amyloidosis systemic nonneuropathic - See Amyloidosis familial visceral
• Amyloidosis Transthyretin related - See Familial transthyretin amyloidosis
• Amyloidosis V - See Familial amyloidosis, Finnish type
• Amyloidosis VIII - See Amyloidosis familial visceral
• Amyloidosis, hereditary, transthyretin-related - See Familial transthyretin amyloidosis
• Amyloidosis, Ostertag type - See Amyloidosis familial visceral
• Amylopectinosis - See Glycogen storage disease type 4
• Amyopathic dermatomyositis
• Amyotonia congenita
• Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis 10 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis 11 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis 3 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis 4 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis 5 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis 7 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis 8 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis 9 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 1 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 10 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 11 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 2 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 3 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 4 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 5 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 6 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 7 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 8 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis type 9 - See Amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis, juvenile - See Juvenile amyotrophic lateral sclerosis
• Amyotrophic lateral sclerosis, Parkinsonism/Dementia complex of Guam - See Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
• Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
• Amyotrophy fat tissue anomaly - See Nakajo Nishimura syndrome
• Amyotrophy, hereditary neuralgic, with predilection for brachial plexus - See Hereditary neuralgic amyotrophy
• Amyotrophy, neurogenic scapuloperoneal, New England type
• AN - See Acanthosis nigricans - not a rare disease
• Anaerobic actinomyces infection - See Actinomycosis
• Anal anomalies, renal tract abnormalities, genital malformations, and syndactyly - See Green Sandford Davison syndrome
• Anal atresia - See Imperforate anus
• Anal cancer
• Anal sphincter dysplasia
• Anal stenosis - See Imperforate anus
• ANALBA - See Congenital analbuminemia
• Analbuminemia - See Congenital analbuminemia
• Analphalipo-proteinemia - See Tangier disease
• Anaphylactoid purpura - See Henoch-Schonlein purpura
• Anaplastic astrocytoma
• Anaplastic ependymoma
• Anaplastic ganglioglioma
• Anaplastic large cell lymphoma
• Anaplastic lymphoma kinase positive histiocytosis - See ALK+ histiocytosis
• Anaplastic oligoastrocytoma
• Anaplastic oligodendroglioma
• Anaplastic plasmacytoma
• Anaplastic pleomorphic xanthoastrocytoma
• Anaplastic skeletal plasmacytoma (type) - See Anaplastic plasmacytoma
• Anaplastic small cell lymphoma
• Anaplastic thyroid cancer
• Anaplastic thyroid carcinoma - See Anaplastic thyroid cancer
• Anauxetic dysplasia
• ANCA-associated vasculitis
• Ancell-Spiegler cylindromas - See Brooke-Spiegler syndrome
• ANCL - See Adult neuronal ceroid lipofuscinosis
• Ancylostoma duodenale infection - See Ancylostomiasis
• Ancylostomiasis
• Andermann syndrome
• Andersen cardiodysrhythmic periodic paralysis - See Andersen-Tawil syndrome
• Andersen disease - See Glycogen storage disease type 4
• Andersen-Tawil syndrome
• Anderson-Fabry disease - See Fabry disease
• Anderson-Warburg syndrome - See Norrie disease
• Andre syndrome - See Oto-palato-digital syndrome type 2
• Androblastoma of ovary - See Sertoli-leydig cell tumors
• Androgen insensitivity syndrome
• Androgen insensitivity syndrome, complete - See Complete androgen insensitivity syndrome
• Androgen insensitivity syndrome, mild
• Androgen insensitivity syndrome, partial - See Partial androgen insensitivity syndrome
• Androgen insensitivity, partial, with or without breast cancer - See Partial androgen insensitivity syndrome
• Androgen receptor deficiency - See Androgen insensitivity syndrome
• Androgen resistance syndrome, partial - See Partial androgen insensitivity syndrome
• Androgenetic alopecia - not a rare disease
• Androgenic alopecia - See Androgenetic alopecia - not a rare disease
• ANE - See Acute necrotizing encephalopathy
• ANE1 - See Infection-induced acute encephalopathy 3
• Anemia aplastic - See Aplastic anemia
• Anemia congenital erythroid hypoplastic - See Diamond-Blackfan anemia
• Anemia congenital sideroblastic B6-responsive - See Sideroblastic anemia pyridoxine-responsive autosomal recessive
• Anemia Diamond Blackfan type - See Diamond-Blackfan anemia
• Anemia Diamond-Blackfan 2 - See Diamond-Blackfan anemia 2
• Anemia Diamond-Blackfan 3 - See Diamond-Blackfan anemia 3
• Anemia due to Adenosine triphosphatase deficiency
• Anemia hemolytic autoimmune - See Autoimmune hemolytic anemia
• Anemia hemolytic congenital - See Congenital hemolytic anemia
• Anemia hereditary sideroblastic - See X-linked sideroblastic anemia
• Anemia sex-linked hypochromic sideroblastic - See X-linked sideroblastic anemia
• Anemia sideroblastic - See Sideroblastic anemia - not a rare disease
• Anemia sideroblastic and spinocerebellar ataxia
• Anemia, dyserythropoietic, congenital type 1 - See Congenital dyserythropoietic anemia type 1
• Anemia, dyserythropoietic, congenital type 2 - See Congenital dyserythropoietic anemia type 2
• Anemia, hemolytic, cold antibody - See Cold agglutinin disease
• Anemia, hypochromic microcytic, with defect in iron metabolism - See Iron-refractory iron deficiency anemia
• Anencephaly
• Anencephaly and spina bifida X-linked
• Anesthesia related hyperthermia - See Malignant hyperthermia
• Anesthetic-induced malignant hyperpyrexia in children - See King Denborough syndrome
• Aneurysm - osteoarthritis syndrome - See Loeys-Dietz syndrome type 3
• Aneurysm of sinus of Valsalva
• Aneurysm, abdominal aortic - See Abdominal aortic aneurysm
• Aneurysm, intracranial berry, 2
• Aneurysmal bone cysts
• Aneurysm-osteoarthritis syndrome - See Loeys-Dietz syndrome type 3
• Aneurysms-osteoarthritis syndrome - See Loeys-Dietz syndrome type 3
• Angel shaped phalangoepiphyseal dysplasia
• Angelman syndrome
• Angelman-like syndrome x-linked - See Christianson syndrome
• Angel-shaped phalango-epiphyseal dysplasia - See Angel shaped phalangoepiphyseal dysplasia
• Angiitis - See Vasculitis - not a rare disease
• Angina inversa - See Prinzmetal's variant angina
• Angiocentric T-cell lymphoma - See Extranodal nasal NK/T cell lymphoma
• Angioedema, acquired - See Acquired angioedema
• Angioedema, hereditary - See Hereditary angioedema
• Angioedema, vibratory - See Vibratory urticaria
• Angiofollicular ganglionic hyperplasia - See Castleman disease
• Angiofollicular lymph hyperplasia - See Castleman disease
• Angioimmunoblastic lymphadenopathy with dysproteinemia
• Angioimmunoblastic T-cell lymphoma
• Angioimmunoblastic with dysproteinemia lymphadenopathy - See Angioimmunoblastic lymphadenopathy with dysproteinemia
• Angiokeratoma corporis diffusum - See Fabry disease
• Angiokeratoma, diffuse - See Fabry disease
• Angioma hereditary neurocutaneous
• Angioma serpiginosum
• Angioma tufted - See Tufted angioma
• Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert
• Angiomyomatous Hamartoma
• Angio-osteohypertrophy syndrome - See Klippel-Trenaunay syndrome
• Angiosarcoma associated with chronic lymphedema - See Stewart Treves syndrome
• Angiosarcoma of the breast
• Angiosarcoma of the liver
• Angiosarcoma of the scalp
• Angiospastic macules - See Bier spots
• Angiostrongyliasis
• ANH1 - See X-linked sideroblastic anemia
• Anhidrotic ectodermal dysplasia - See Hypohidrotic ectodermal dysplasia
• Anhidrotic ectodermal dysplasia with immune deficiency - See Hypohidrotic ectodermal dysplasia with immune deficiency
• Anhidrotic ectodermal dysplasia X-linked - See X-linked hypohidrotic ectodermal dysplasia
• Anhidrotic ectodermal dysplasia, autosomal recessive - See Hypohidrotic ectodermal dysplasia autosomal recessive
• ANIB2 - See Aneurysm, intracranial berry, 2
• ANIC - See Congenital anosmia
• Aniridia
• Aniridia - ptosis - intellectual disability - familial obesity
• Aniridia absent patella
• Aniridia associated with mental retardation and other eye abnormalities - See Walker Dyson syndrome
• Aniridia partial with unilateral renal agenesis and psychomotor retardation - See Aniridia renal agenesis psychomotor retardation
• Aniridia renal agenesis psychomotor retardation
• Aniridia, cerebellar ataxia and mental deficiency - See Gillespie syndrome
• Aniridia, ectopia lentis, abnormal upper incisors and mental retardation - See Zazam Sheriff Phillips syndrome
• Aniridia-ptosis-intellectual disability-familial obesity syndrome - See Aniridia - ptosis - intellectual disability - familial obesity
• Anisakiasis
• Anisakis infection - See Anisakiasis
• Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type - See Dyssegmental dysplasia Rolland-Desbuquois type
• Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type - See Dyssegmental dysplasia Silverman-Handmaker type
• ANKL - See Aggressive NK cell leukemia
• Ankyloblepharon ectodermal defects cleft lip/palate - See Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• Ankyloblepharon filiforme adnatum - See Ankyloblepharon filiforme adnatum cleft palate
• Ankyloblepharon filiforme adnatum cleft palate
• Ankyloblepharon filiforme congenitum - See Ankyloblepharon filiforme adnatum cleft palate
• Ankyloblepharon filiforme imperforate anus
• Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• Ankylosing spondylitis - not a rare disease
• Ankylosing spondyloarthritis - See Ankylosing spondylitis - not a rare disease
• Ankylosing vertebral hyperostosis with tylosis
• Ankylosis of teeth
• Ankylosis of the temporomandibular joint (TMJ) - See Temporomandibular ankylosis
• Ankylostomiasis - See Ancylostomiasis
• Ankyrin-B syndrome
• ANM - See Amish Nemaline Myopathy
• Annular atrophic lichen planus
• Annular atrophic LP - See Annular atrophic lichen planus
• Annular constricting bands
• Annular lichen planus
• Annular LP - See Annular lichen planus
• Annular pancreas
• Annuloaortic ectasia - See Familial thoracic aortic aneurysm and dissection
• Anodontia
• Anodontia of permanent dentition - See Anodontia
• Anomalous insertion of extensor tendons of fingers - See Tendons, extensor, of fingers, anomalous insertion of
• Anomalous origin of right pulmonary artery familial
• Anomalous pulmonary venous return - See Pulmonary venous return anomaly
• Anomalous ventricular excitation syndrome - See Wolff-Parkinson-White syndrome - not a rare disease
• Anonychia and absence/hypoplasia of distal phalanges - See Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
• Anonychia congenita
• Anonychia ectrodactyly
• 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 - See Microphthalmia 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 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 Infantile apnea
• AOI - See Atelosteogenesis type 1
• 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
• AP-4 Deficiency - See AP-4-Associated Hereditary Spastic Paraplegia
• AP4 deficiency syndrome - See Spastic paraplegia 51
• AP4 deficiency syndrome - See AP-4-Associated Hereditary Spastic Paraplegia
• AP-4 Deficiency Syndrome - See AP-4-Associated Hereditary Spastic Paraplegia
• AP-4-Associated Hereditary Spastic Paraplegia
• AP-4-Associated HSP - See AP-4-Associated Hereditary Spastic Paraplegia
• 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 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 Adenine phosphoribosyltransferase deficiency
• 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 acrokeratoderma
• Aquagenic Palmoplantar Keratoderma - See Aquagenic syringeal acrokeratoderma
• Aquagenic pruritus
• Aquagenic syringeal acrokeratoderma
• Aquagenic urticaria
• Aquagenic wrinkling of the hands - See Aquagenic syringeal acrokeratoderma
• Aquagenic wrinkling of the palms - See Aquagenic syringeal acrokeratoderma
• Aqueductal stenosis, X-linked - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
• AR dRTA - See Autosomal recessive distal renal tubular acidosis
• 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
• 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 malformation type 1 - See Chiari malformation type 1 - not a rare disease
• Arnold-Chiari malformation type I - See Chiari malformation type 1 - not a rare disease
• 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
• Arterial-ecchymotic EDS - See Vascular Ehlers-Danlos 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 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 - See Arthrogryposis 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
• 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
• Asphyxiating thoracic dystrophy of the newborn - 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 - See Pyknoachondrogenesis
• 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 - See Infantile 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 - See Jejunal atresia
• Atresia of small intestine
• 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 - See Palmoplantar keratoderma-sclerodactyly syndrome
• Atrophic lichen planus
• Atrophic LP - See Atrophic lichen planus
• Atrophic papulosis, malignant - See Malignant Atrophic Papulosis
• 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 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 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 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 - See Autosomal dominant deafness-onychodystrophy syndrome
• 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 familial hematuria-retinal arteriolar tortuosity-contractures syndrome - See Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• 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 - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• Autosomal dominant medullary cystic kidney disease type 2 (former) - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• 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 - not a rare disease
• Autosomal dominant polycystic kidney disease - See 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 sleep-related hypermotor epilepsy - See Autosomal dominant nocturnal frontal lobe epilepsy
• 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 due to MUC1 mutations
• Autosomal dominant tubulointerstitial kidney disease due to REN mutations
• Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• Autosomal dominant tubulointerstitial kidney disease, MUC1-associated - See Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations
• Autosomal dominant tubulointerstitial kidney disease, REN-related - See Autosomal dominant tubulointerstitial kidney disease due to REN mutations
• Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related - See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations
• 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 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
• 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 distal RTA - See Autosomal recessive distal renal tubular acidosis
• 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 NADH cytochrome B5 reductase deficiency
• Autosomal recessive methemoglobinemia - See Hereditary methemoglobinemia
• 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 - See Irons 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 Autosomal recessive protein C deficiency
• Autosomal recessive thrombophilia due to PC deficiency - See Protein C deficiency - not a rare disease
• Autossomal dominant café-au-lait spots - See Multiple café-au-lait spots
• 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