Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseases
Rare Diseases Resources for Refugees/Displaced Persons
Homepage > Rare diseases > Search
Search for a rare disease
2339 Result(s)
- AA
- AA amyloidosis
- AAA syndrome
- AADC deficiency
- AAE
- AAE 2
- AAE II
- Aagenaes syndrome
- AAHD
- AAOCA
- AAOR
- AApoAI amyloidosis
- AApoAII amyloidosis
- AApoAIV amyloidosis
- Aarskog syndrome
- Aarskog-like syndrome
- Aarskog-Scott syndrome
- Aase-Smith I syndrome
- Aase-Smith syndrome
- AAV
- ABCB4-related cholelithiasis
- Abdominal coarctation
- Abdominal cocoon syndrome
- Abdominal muscle deficiency syndrome
- ABE
- Aberfeld syndrome
- ABeta amyloidosis, Arctic type
- ABeta amyloidosis, Dutch type
- ABeta amyloidosis, Flemish type
- ABeta amyloidosis, Iowa type
- ABeta amyloidosis, Italian type
- ABeta amyloidosis, Piedmont type
- ABeta2M amyloidosis
- ABeta2Mwt amyloidosis
- ABetaA21G amyloidosis
- ABetaA21G-related amyloidosis
- ABetaD23N amyloidosis
- ABetaE22G amyloidosis
- ABetaE22K amyloidosis
- ABetaE22Q amyloidosis
- ABetaL34V amyloidosis
- ABetaL34V-related amyloidosis
- Abetalipoproteinemia
- Ablepharon macrostomia syndrome
- Abnormal number of coronary ostia
- Abnormal origin of right or left pulmonary artery from the aorta
- Abnormal origin of the pulmonary artery
- Abnormally invasive placenta
- ABPA
- ABri amyloidosis
- Abruzzo-Erickson syndrome
- ABS
- ABSD
- Absence deformity of leg-cataract syndrome
- Absence of brachiocephalic vein
- Absence of dermatoglyphics-congenital milia syndrome
- Absence of fingerprints-congenital milia syndrome
- Absence of innominate vein
- Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome
- Absence of the pulmonary artery
- Absence of the superior caval vein
- Absence of the superior vena cava
- Absence of the SVC
- Absence of uterine body
- Absent eyebrows and eyelashes-intellectual disability syndrome
- Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome
- Absent pulmonary valve syndrome
- Absent radius-anogenital anomalies syndrome
- Absent thumb-short stature-immunodeficiency syndrome
- Absent tibia-polydactyly syndrome
- Absent tibia-polydactyly-arachnoid cyst syndrome
- ABSN
- ACA
- ACAD9 deficiency
- ACADM deficiency
- ACADS deficiency
- Acalvaria
- Acanthokeratolytic verrucous nevus
- Acanthoma of the nail matrix
- Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
- ACAPA
- Acatalasemia
- ACC
- ACC-abnormal genitalia syndrome
- Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
- Accessory breasts
- Accessory mitral valve tissue
- Accessory nostril
- Accessory pancreas
- Accessory tricuspid valve tissue
- ACD
- ACD-intellectual disability syndrome
- ACDMPV
- ACE inhibitor-related acquired angioedema
- ACEI-related acquired angioedema
- Acephalic spermatozoa syndrome
- ACER3-related early childhood-onset progressive leukodystrophy
- Aceruloplasminemia
- Acetaminophen poisoning
- Acetazolamide-responsive congenital myotonia
- Acetazolamide-responsive myotonia
- ACFS
- Achalasia cardia
- Achalasia-addisonianism-alacrima syndrome
- Achalasia-microcephaly syndrome
- ACHM
- Achondrogenesis
- Achondrogenesis type 1A
- Achondrogenesis type 1B
- Achondrogenesis type 2
- Achondrogenesis, Houston-Harris type
- Achondrogenesis, Langer-Saldino type
- Achondrogenesis, Parenti-Fraccaro type
- Achondroplasia
- Achondroplasia-SCID syndrome
- Achondroplasia-severe combined immunodeficiency syndrome
- Achondroplasia-Swiss type agammaglobulinemia syndrome
- Achromatopsia
- Acid beta-glucosidase deficiency
- Acid ceramidase deficiency
- Acid sphingomyelinase deficiency
- Acinar cell carcinoma of pancreas
- Acinar cell cystadnoma
- Acinar cystic transformation of the pancreas
- Acitretin/etretinate embryopathy
- Ackerman dermatitis syndrome
- Ackerman fused molar roots syndrome
- Ackerman syndrome
- ACM
- ACNES
- Acoustic neurilemoma
- Acoustic neurinoma
- Acoustic neuroma
- ACPS2
- Acquired adult-onset immunodeficiency
- Acquired amyloid peripheral neuropathy
- Acquired aneurysmal subarachnoid hemorrhage
- Acquired angioedema
- Acquired angioedema type 1
- Acquired angioedema type 2
- Acquired angioedema with C1Inh deficiency
- Acquired angioedema with normal C1 inhibitor
- Acquired angioedema with normal C1INH
- Acquired angioneurotic edema
- Acquired angioneurotic edema type 1
- Acquired angioneurotic edema type 2
- Acquired angioneurotic edema with C1 inhibitor deficiency
- Acquired angioneurotic edema with C1Inh deficiency
- Acquired anterior horn cell disease
- Acquired arginine vasopressin deficiency
- Acquired ataxia
- Acquired bradykinine-induced angioedema
- Acquired C1 inhibitor deficiency
- Acquired CDI
- Acquired chronic primary adrenal insufficiency
- Acquired Creutzfeldt-Jakob disease
- Acquired cutis laxa
- Acquired cystic disease-associated renal cell carcinoma
- Acquired dermis elastic tissue disorder
- Acquired dermis elastic tissue disorder with decreased elastic tissue
- Acquired dermis elastic tissue disorder with increased elastic tissue
- Acquired elastotic haemangioma
- Acquired embryofetopathy
- Acquired epidermolysis bullosa
- Acquired epileptic aphasia
- Acquired F8 deficiency
- Acquired F9 deficiency
- Acquired factor IX deficiency
- Acquired factor V deficiency
- Acquired factor VII deficiency
- Acquired factor VIII deficiency
- Acquired factor X deficiency
- Acquired factor XI deficiency
- Acquired factor XIII deficiency
- Acquired Fanconi syndrome secondary to monoclonal gammopathy
- Acquired generalized lipodystrophy
- Acquired Gronblad-Strandberg-Touraine syndrome
- Acquired HbH disease
- Acquired hemoglobin H disease
- Acquired hemophagocytic lymphohistiocytosis
- Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
- Acquired hemophilia A
- Acquired hemophilia B
- Acquired human prion disease
- Acquired hypertrichosis lanuginosa
- Acquired hypoprothrombinemia
- Acquired hypothalamic obesity
- Acquired ichthyosis
- Acquired idiopathic sideroblastic anemia
- Acquired immunodeficiency
- Acquired kinky hair syndrome
- Acquired lipoatrophic diabetes
- Acquired lipodystrophy
- Acquired methemoglobinemia
- Acquired monoclonal Ig light chain-associated Fanconi syndrome
- Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome
- Acquired motor neuron disease
- Acquired myasthenia
- Acquired neurogenic diabetes insipidus
- Acquired neuromuscular junction disease
- Acquired neutropenia
- Acquired non histamine-induced angioedema
- Acquired partial lipodystrophy
- Acquired peripheral movement disorder
- Acquired peripheral neuropathy
- Acquired pituitary hormone deficiency
- Acquired porencephaly
- Acquired primary erythrocytosis
- Acquired prothrombin deficiency
- Acquired pseudoxanthoma elasticum
- Acquired purpura fulminans
- Acquired PXE
- Acquired rippling muscle disease
- Acquired schizencephaly
- Acquired secondary erythrocytosis
- Acquired secondary polycythemia
- Acquired sensory ganglionopathy
- Acquired sensory neuronopathy
- Acquired skeletal muscle disease
- Acquired thrombotic thrombocytopenic purpura
- Acquired TTP
- Acquired von Willebrand disease
- Acquired von Willebrand syndrome
- Acral dysostosis with facial and genital abnormalities
- Acral peeling skin syndrome
- Acral persistent papular mucinosis
- Acral PSS
- Acral self-healing collodion baby
- Acral SHCB
- Acro-dermato-ungual-lacrimal-tooth syndrome
- Acro-renal-mandibular syndrome
- Acro-renal-ocular syndrome
- Acrocallosal syndrome
- Acrocapitofemoral dysplasia
- Acrocardiofacial syndrome
- Acrocephalopolydactylous dysplasia
- Acrocephalopolydactyly
- Acrocephalopolysyndactyly type 2
- Acrocephalosyndactyly type 1
- Acrocephalosyndactyly type 3
- Acrocephalosyndactyly type 5
- Acrocraniofacial dysostosis
- Acrodermatitis continua of Hallopeau
- Acrodermatitis enteropathica
- Acrodermatitis enteropathica, zinc deficiency type
- Acrodysostosis
- Acrodysostosis with or without multiple hormonal resistance
- Acrodysplasia
- Acrodysplasia scoliosis
- Acrofacial dysostosis
- Acrofacial dysostosis, Catania type
- Acrofacial dysostosis, Genee-Wiedemann type
- Acrofacial dysostosis, Kennedy-Teebi type
- Acrofacial dysostosis, Palagonia type
- Acrofacial dysostosis, Rodríguez type
- Acrofacial dysostosis, Weyers type
- Acrofrontofacionasal dysostosis
- Acrofrontofacionasal dysostosis type 2
- Acrofrontofacionasal syndrome type 2
- Acrogeria
- Acrogeria, Gottron type
- Acrokeratoderma
- Acrokeratoelastoidosis of Costa
- Acrokeratosis of Bazex
- Acrokeratosis paraneoplastica
- Acrokeratosis paraneoplastica of Bazex
- Acrokeratosis verruciformis of Hopf
- Acromegaly
- Acromelanosis
- Acromelic dysplasia
- Acromelic frontonasal dysostosis
- Acromelic frontonasal dysplasia
- Acromesomelic dwarfism
- Acromesomelic dysplasia
- Acromesomelic dysplasia, Grebe type
- Acromesomelic dysplasia, Hunter-Thompson type
- Acromesomelic dysplasia, Maroteaux type
- Acromesomelic dysplasia, Osebold-Remondini type
- Acrometageria
- Acromicric dysplasia
- Acroosteolysis dominant type
- Acroosteolysis with osteoporosis and changes in skull and mandible
- Acroosteolysis-keloid-like lesions-premature aging syndrome
- Acrootoocular syndrome
- Acropectoral syndrome
- Acropectorovertebral dysplasia
- Acropigmentation of Dohi
- Acrorenal defect-ectodermal dysplasia-diabetes syndrome
- Acrorenal syndrome
- ACRP syndrome
- ACS
- ACS1
- ACS3
- ACS5
- ACTB-AST
- ACTH-dependent CS
- ACTH-dependent Cushing syndrome
- Actin myopathy
- Actinic lichen planus
- Actinic LP
- Actinic prurigo
- Actinic reticuloid
- Actinomycosis
- Actinomyopathy-associated syndromic thrombocytopenia
- Action myoclonus-renal failure syndrome
- Activated p110-delta syndrome
- Activated p110delta syndrome, type 1
- Activated p110delta syndrome, type 2
- Activated phosphoinositide 3-kinase delta syndrome type 2
- Activated phosphoinositide 3-kinase delta syndrome-1
- Activated PI3K-delta syndrome
- Activated PI3K-delta syndrome 1
- Activated PI3K-delta syndrome 2
- Activated Rac2 defect
- Activated RAC2-associated severe combined immunodeficiency
- Activation-induced cytidine deaminase deficiency
- Acute ackee fruit intoxication
- Acute adrenal failure
- Acute adrenal insufficiency
- Acute adrenocortical insufficiency
- Acute and subacute inflammatory demyelinating polyneuropathy
- Acute and subacute inflammatory demyelinating polyradiculoneuropathy
- Acute annular outer retinopathy
- Acute basophilic leukemia
- Acute bilateral striatal necrosis
- Acute bilirubin encephalopathy
- Acute brachial plexus neuritis
- Acute cerebellar ataxia
- Acute demyelinating encephalomyelitis
- Acute disseminated encephalitis
- Acute disseminated encephalomyelitis
- Acute disseminated encephalomyelitis with anti-MOG antibodies
- Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies
- Acute disseminated encephalomyelitis without anti-MOG antibodies
- Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies
- Acute encephalitis with refractory repetitive partial seizures
- Acute encephalopathy with biphasic seizures and late reduced diffusion
- Acute encephalopathy with inflammation-mediated status epilepticus
- Acute endophthalmitis
- Acute erythroid leukemia
- Acute fatty liver of pregnancy
- Acute febrile neutrophilic dermatosis
- Acute flaccid myelitis
- Acute generalized exanthematous pustulosis
- Acute graft versus host disease
- Acute hepatic failure
- Acute hepatic porphyria
- Acute idiopathic demyelinating polyneuropathy
- Acute infantile encephalopathy predominantly affecting the frontal lobes
- Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- Acute infantile liver failure-multisystemic involvement syndrome
- Acute infantile Tay-Sachs disease
- Acute inflammatory demyelinating polyradiculoneuropathy
- Acute inflammatory polyneuropathy
- Acute intermittent porphyria
- Acute interstitial pneumonia
- Acute interstitial pneumonitis
- Acute intoxication by Blighia sapida
- Acute kernicterus
- Acute leukemia of ambiguous lineage
- Acute leukemia of indeterminate lineage
- Acute liver failure
- Acute lung injury
- Acute lymphoblastic leukemia
- Acute lymphoblastic leukemia/lymphoma
- Acute lymphocytic leukemia
- Acute macular neuroretinopathy
- Acute mast cell leukemia
- Acute MCL
- Acute megakaryoblastic leukemia
- Acute megakaryoblastic leukemia in adult
- Acute megakaryoblastic leukemia in children with Down syndrome
- Acute megakaryoblastic leukemia in children with trisomy 21
- Acute megakaryoblastic leukemia in children without Down syndrome
- Acute megakaryoblastic leukemia in children without trisomy 21
- Acute megakaryocytic leukemia
- Acute megakaryocytic leukemia in adult
- Acute monoblastic or monocytic leukemia
- Acute monoblastic/monocytic leukemia
- Acute motor and sensory axonal neuropathy
- Acute motor axonal neuropathy
- Acute motor-sensory axonal GBS
- Acute motor-sensory axonal Guillain-Barré syndrome
- Acute multiple sclerosis, Marburg type
- Acute multiple sclerosis, Marburg variant
- Acute myeloblastic leukemia 3
- Acute myeloblastic leukemia M1
- Acute myeloblastic leukemia M2
- Acute myeloblastic leukemia with maturation
- Acute myeloblastic leukemia without maturation
- Acute myelodysplasia with myelofibrosis
- Acute myelofibrosis
- Acute myelogenous leukemia
- Acute myeloid leukaemia with myelodysplasia-related features
- Acute myeloid leukemia
- Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
- Acute myeloid leukemia and myelodysplastic syndromes related to radiation
- Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
- Acute myeloid leukemia M6
- Acute myeloid leukemia M7
- Acute myeloid leukemia M7 in adult
- Acute myeloid leukemia with 11q23 abnormalities
- Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
- Acute myeloid leukemia with CEBPA somatic mutations
- Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
- Acute myeloid leukemia with minimal differentiation
- Acute myeloid leukemia with multilineage dysplasia
- Acute myeloid leukemia with NPM1 somatic mutations
- Acute myeloid leukemia with recurrent genetic anomaly
- Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
- Acute myeloid leukemia with t(6;9)(p23;q34)
- Acute myeloid leukemia with t(8;16)(p11;p13) translocation
- Acute myeloid leukemia with t(8;21)(q22;q22) translocation
- Acute myeloid leukemia with t(9;11)(p22;q23)
- Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
- Acute myeloid leukemia, minimal differentiation, FAB M0
- Acute myelomonocytic leukemia
- Acute necrotizing encephalopathy of childhood
- Acute neonatal citrullinemia type 1
- Acute neonatal citrullinemia type I
- Acute neuronopathic Gaucher disease
- Acute non-herpetic encephalitis with severe refractory status epilepticus
- Acute opioid intoxication
- Acute panautonomic GBS
- Acute panautonomic Guillain-Barré syndrome
- Acute panautonomic neuropathy
- Acute pandysautonomia
- Acute panmyelosis with myelofibrosis
- Acute peripheral arterial occlusion
- Acute poisoning by drugs with membrane-stabilizing effect
- Acute postinfectious cerebellar ataxia
- Acute promyelocytic leukemia
- Acute pure motor GBS
- Acute pure motor Guillain-Barré syndrome
- Acute pure sensory GBS
- Acute pure sensory Guillain-Barré syndrome
- Acute pure sensory neuropathy
- Acute radiation sickness
- Acute radiation syndrome
- Acute reversible leukoencephalopathy due to SLC13A3 deficiency
- Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency
- Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
- Acute rheumatic fever
- Acute sensory ataxic GBS
- Acute sensory ataxic Guillain-Barré syndrome
- Acute sensory ataxic neuropathy
- Acute transverse myelitis
- Acute transverse myelitis with anti-MOG antibodies
- Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies
- Acute tricyclic antidepressant poisoning
- Acute undifferentiated leukemia
- Acute zonal occult outer retinopathy
- ACY1D
- ACY2 deficiency
- Acyl-CoA dehydrogenase 9 deficiency
- Acyl-CoA dehydrogenase deficiency
- ACys amyloidosis
- ACZ-responsive congenital myotonia
- ACZ-responsive myotonia
- AD CID due to partial GP130 deficiency
- AD CID due to partial IL6ST deficiency
- AD dRTA
- AD hypocalcemia
- AD OSMED
- AD pRTA
- AD-CID due to ERBIN deficiency
- AD-CNM
- AD-HED
- AD-HIES due to STAT3 deficiency
- AD-SPAX
- AD-SPG9A
- AD-SPG9B
- ADA deficiency
- ADA2 deficiency
- Adair-Dighton syndrome
- Adamantinoma
- Adamantinoma of long bones
- Adams-Oliver syndrome
- ADan amyloidosis
- ADANE
- ADAR-related hereditary spastic paraplegia
- ADAR1-related hereditary spastic paraplegia
- ADCA
- ADCA-DN syndrome
- ADCA1
- ADCA2
- ADCA3
- ADCA4
- ADCAI
- ADCAII
- ADCAIII
- ADCAIV
- ADCL
- ADCME
- Addison disease
- Addisonian crisis
- Adducted thumb-clubfoot syndrome
- Adducted thumbs-arthrogryposis syndrome, Christian type
- ADEAF
- ADEM
- ADEM with anti-MOG antibodies
- Adenine phosphoribosyltransferase deficiency
- Adenocarcinoma of ovary
- Adenocarcinoma of the anal canal
- Adenocarcinoma of the cervix uteri
- Adenocarcinoma of the esophagus and the gastroesophageal junction
- Adenocarcinoma of the gallbladder and EBT
- Adenocarcinoma of the gallbladder and extrahepatic biliary tract
- Adenocarcinoma of the liver and IBT
- Adenocarcinoma of the liver and intrahepatic biliary tract
- Adenocarcinoma of the oesophagus and oesophagogastric junction
- Adenocarcinoma of the paratestis
- Adenocarcinoma of the penis
- Adenocarcinoma of the small bowel
- Adenocarcinoma of the small intestine
- Adenocarcinoma of the vulva
- Adenohypophysitis
- Adenoid ameloblastoma
- Adenoid basal carcinoma of the cervix uteri
- Adenoid cystic carcinoma of the cervix uteri
- Adenoma of pancreas
- Adenomatoid tumour of the peritoneum
- Adenomatoid tumour of the pleura
- Adenomucinosis
- Adenosarcoma of the cervix uteri
- Adenosarcoma of the corpus uteri
- Adenosine deaminase 2 deficiency
- Adenosine monophosphate deaminase deficiency
- Adenosylcobalamin deficiency
- Adenovirus infection in immunocompromised patients
- Adenylosuccinase deficiency
- Adenylosuccinate lyase deficiency
- Adenylosuccinate synthetase-like 1-related distal myopathy
- Adermatopathic dermatomyositis
- Adhesive arachnoiditis
- ADHR
- Adie syndrome
- Adiposalgia
- Adipose tissue rheumatism
- Adipose triglyceride lipase deficiency
- Adiposis dolorosa
- ADK hypermethioninemia
- ADLD
- ADLTE
- ADNFLE
- ADNIV
- ADNP syndrome
- ADNP-related syndromic intellectual disability-autism spectrum disorder
- ADOA
- ADOA+
- Adolescent benign focal crisis
- Adolescent-onset epilepsy syndrome
- ADPCLD
- ADPEAF
- adPEO
- ADPKD
- Adrenal crisis
- Adrenal CS
- Adrenal Cushing syndrome
- Adrenal hypoplasia congenita
- Adrenal insufficiency-achalasia-alacrima syndrome
- Adrenal/paraganglial tumor
- Adrenocortical carcinoma
- Adrenocortical carcinoma with pure aldosterone hypersecretion
- Adrenocortical crisis
- Adrenocorticotropic hormone secretion syndrome
- Adrenocorticotropic hormone-dependent Cushing syndrome
- Adrenogenital syndrome
- Adrenomyeloneuropathy
- Adrenomyodystrophy
- ADSD
- ADSL deficiency
- ADSSL1-related distal myopathy
- ADTKD
- ADTKD-HNF1B
- ADTKD-MUC1
- ADTKD-REN
- ADTKD-UMOD
- Adult acute respiratory distress syndrome
- Adult ARDS
- Adult basal ganglia disease
- Adult cardiac tumor
- Adult chronic idiopathic neutropenia
- Adult dermatomyositis
- Adult familial nephronophthisis-spastic quadriparesia syndrome
- Adult HCC
- Adult heart tumor
- Adult hepatocellular carcinoma
- Adult hypophosphatasia
- Adult idiopathic neutropenia
- Adult intestinal botulism
- Adult intestinal colonization botulism
- Adult intestinal toxemia botulism
- Adult intestinal toxin-mediated botulism
- Adult Krabbe disease
- Adult phosphoethanolaminuria
- Adult polyglucosan body disease
- Adult progeria
- Adult Rathbun disease
- Adult Refsum disease
- ADULT syndrome
- Adult T-cell leukemia/lymphoma
- Adult-onset acquired myasthenia
- Adult-onset Alpha-N-acetylgalactosaminidase deficiency
- Adult-onset autoimmune myasthenia gravis
- Adult-onset autosomal dominant demyelinating leukodystrophy
- Adult-onset autosomal dominant leukodystrophy
- Adult-onset autosomal recessive cerebellar ataxia
- Adult-onset autosomal recessive sideroblastic anemia
- Adult-onset cervical dystonia, DYT23 type
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- Adult-onset citrin deficiency
- Adult-onset citrullinemia type 2
- Adult-onset citrullinemia type II
- Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency
- Adult-onset common variable immunodeficiency phenotype due to B-cell activating factor receptor deficiency
- Adult-onset CPEO with mitochondrial myopathy
- Adult-onset CVID phenotype due to BAFF-receptor deficiency
- Adult-onset cystinosis
- Adult-onset distal myopathy due to VCP mutation
- Adult-onset dystonia-parkinsonism
- Adult-onset foveomacular dystrophy
- Adult-onset foveomacular dystrophy with choroidal neovascularization
- Adult-onset foveomacular vitelliform dystrophy
- Adult-onset GM1 gangliosidosis
- Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies
- Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
- Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
- Adult-onset myasthenia gravis
- Adult-onset myotonic dystrophy type 1
- Adult-onset nemaline myopathy
- Adult-onset overlap myositis
- Adult-onset PLS
- Adult-onset primary lateral sclerosis
- Adult-onset progressive leukoencephalopathy-early-onset deafness
- Adult-onset progressive leukoencephalopathy-early-onset hearing loss
- Adult-onset SCA47
- Adult-onset spinocerebellar ataxia type 47
- Adult-onset Steinert disease
- Adult-onset Steinert myotonic dystrophy
- Adult-onset Still disease
- Adult-onset vitelliform macular dystrophy
- ADVIRC
- Adynamia episodica hereditaria
- AE
- AEBP1-related EDS
- AEBP1-related Ehlers-Danlos syndrome
- AEC syndrome
- aEDS
- AEI
- AERRPS
- AESD
- AEXS
- AEZ
- AFAP
- AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- AFH
- AFib amyloidosis
- AFLP
- AFMD
- AFND
- AFP
- African iron overload
- African tick typhus
- African trypanosomiasis
- aFX
- aFXI
- aFXIII
- Agammaglobulinemia
- Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- Agammaglobulinemia-skin involvement-failure to thrive syndrome
- Aganglionic megacolon
- AGAT deficiency
- AGC1 deficiency
- AGel amyloidosis
- Agenesis of corpus callosum with chorioretinal abnormality
- Agenesis of the superior caval vein
- Agenesis of the superior vena cava
- Agenesis of the SVC
- AGEP
- AGG
- Aggressive B-cell NHL
- Aggressive B-cell non-Hodgkin lymphoma
- Aggressive fibromatosis
- Aggressive NK-cell leukemia
- Aggressive NK-cell lymphoma
- Aggressive periodontitis
- Aggressive primary cutaneous B-cell lymphoma
- Aggressive primary cutaneous T-cell lymphoma
- Aggressive systemic mastocytosis
- Aglossia-adactylia syndrome
- Agnathia-holoprosencephaly-situs inversus syndrome
- Agnogenic myeloid metaplasia
- AgP
- Agramatic variant of PPA
- Agramatic variant of primary progressive aphasia
- AH amyloidosis
- AHA
- AHA
- AHB
- AHC
- AHC
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- AHDS
- Ahn-Lerman-Sagie syndrome
- AHO-PHP syndrome Ia
- AHO-PPHP syndrome
- aHUS
- aHUS with anti-factor H antibodies
- aHUS with complement gene abnormality
- aHUS with neutralizing autoantibodies against factor H
- AICA-ribosiduria
- AICA-ribosiduria due to ATIC deficiency
- AICAR transformylase/IMP cyclohydrolase deficiency
- Aicardi syndrome
- Aicardi-Goutières syndrome
- AID deficiency
- AIDP
- AIDS wasting syndrome
- AIE
- AIED
- AIEF
- AIH
- AIH type 1
- AIH type 2
- AIHA
- AILT
- AINM
- AIP
- AIP
- AIP type 1
- AIP type 2
- Airway infantile hemangioma
- AIS
- AISA
- AK2 deficiency
- AKE
- AKT2-related familial partial lipodystrophy
- AKT2-related FPLD
- AKV of Hopf
- AL amyloidosis
- Al Awadi-Farag-Teebi syndrome
- Al Awadi-Raas-Rothschild syndrome
- Al Gazali-Aziz-Salem syndrome
- Al Gazali-Donnai-Muller syndrome
- Al Gazali-Nair syndrome
- Alacrimia-choreoathetosis-liver dysfunction syndrome
- ALAD porphyria
- Alagille syndrome
- Alagille syndrome due to 20p12 microdeletion
- Alagille syndrome due to a JAG1 point mutation
- Alagille syndrome due to a NOTCH2 point mutation
- Alagille syndrome due to del(20)(p12)
- Alagille syndrome due to monosomy 20p12
- Alagille-Watson syndrome
- Alagille-Watson syndrome due to a JAG1 point mutation
- Alagille-Watson syndrome due to a NOTCH2 point mutation
- Alagille-Watson syndrome due to monosomy 20p12
- Alar cartilages hypoplasia-coloboma-telecanthus syndrome
- Alar cleft
- Alar rim cleft
- Alazami syndrome
- Alazami-Yuan syndrome
- Albers-Schönberg osteopetrosis
- Albinism-deafness syndrome
- Albinism-hearing loss syndrome
- Albright hereditary osteodystrophy type 3
- Albright hereditary osteodystrophy-like syndrome
- Albright hereditary osteodystrophy-PHP syndrome Ia
- Albright hereditary osteodystrophy-PPHP syndrome
- ALCL
- Alcock syndrome
- Alcohol-related birth defects
- Alcohol-related neurodevelopmental disorder
- Alcohol-responsive dystonia
- ALD
- ALDD syndrome
- ALDH18A1-related De Barsy syndrome
- Aldred syndrome
- ALE
- ALECT2 amyloidosis
- Alexander disease
- Alexander disease type I
- Alexander disease type II
- Alfi syndrome
- ALG1-CDG
- ALG11-CDG
- ALG12-CDG
- ALG13-CDG
- ALG2-CDG
- ALG3-CDG
- ALG6-CDG
- ALG8-CDG
- ALG9-CDG
- Algodystrophy
- ALHE
- ALK+ ALCL
- ALK+ anaplastic large cell lymphoma
- ALK+ large B-cell lymphoma
- ALK+ LBCL
- ALK- ALCL
- ALK- anaplastic large cell lymphoma
- ALK-negative anaplastic large cell lymphoma
- ALK-positive anaplastic large cell lymphoma
- ALK-positive large B-cell lymphoma
- Alkaline ceramidase 3 deficiency
- Alkaptonuria
- Alkuraya-Kucinskas syndrome
- ALL
- Allan-Herndon-Dudley syndrome
- Allergic aspergillosis
- Allergic bronchopulmonary aspergillosis
- Allgrove syndrome
- Alloimmune neonatal renal disease
- Allosome anomaly
- Allosome number anomaly
- Allosome structural anomaly
- Alobar holoprosencephaly
- Alopecia
- Alopecia antibody deficiency
- Alopecia totalis
- Alopecia universalis
- Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome
- Alopecia-anosmia-deafness-hypogonadism syndrome
- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Alopecia-epilepsy-intellectual disability syndrome, Moynahan type
- Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
- Alopecia-intellectual disability syndrome
- Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
- Alopecia-progressive neurological defect-endocrinopathy syndrome
- Alpers progressive sclerosing poliodystrophy
- Alpers syndrome
- Alpers-Huttenlocher syndrome
- Alpha delta granule deficiency
- Alpha dense granule deficiency
- Alpha granule disease
- Alpha methylacetoacetic aciduria
- Alpha storage pool deficiency
- Alpha thalassemia-intellectual disability syndrome, deletion type
- Alpha-1,4-glucosidase acid deficiency
- Alpha-1,4-glucosidase acid deficiency, infantile onset
- Alpha-1,4-glucosidase acid deficiency, late-onset
- Alpha-1-antitrypsin deficiency
- Alpha-1-proteinase inhibitor deficiency
- Alpha-aminoadipic aciduria
- Alpha-B crystallin-related late-onset distal myopathy
- Alpha-B crystallin-related late-onset myopathy
- Alpha-crystallinopathy
- Alpha-dystroglycan-related LGMD R16
- Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
- Alpha-dystroglycanopathy
- Alpha-galactosidase A deficiency
- Alpha-HCD
- Alpha-heavy chain disease
- Alpha-ketoglutarate dehydrogenase deficiency
- Alpha-L-fucosidase deficiency
- Alpha-L-iduronidase deficiency
- Alpha-mannosidosis
- Alpha-mannosidosis, adult form
- Alpha-mannosidosis, infantile form
- Alpha-methyl-acetoacetyl-CoA thiolase deficiency
- Alpha-methyl-acyl-CoA racemase deficiency
- Alpha-N-acetylgalactosaminidase deficiency
- Alpha-N-acetylgalactosaminidase deficiency type 1
- Alpha-N-acetylgalactosaminidase deficiency type 2
- Alpha-N-acetylgalactosaminidase deficiency type 3
- Alpha-sarcoglycan-related LGMD R3
- Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
- Alpha-sarcoglycanopathy
- Alpha-thalassemia
- Alpha-thalassemia and related disorders
- Alpha-thalassemia hydrops fetalis
- Alpha-thalassemia intermedia
- Alpha-thalassemia major
- Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- Alpha-thalassemia-myelodysplastic syndrome
- Alpha1-antitrypsin deficiency
- ALPI-related inflammatory bowel disease
- Alport deafness-nephropathy
- Alport hearing loss-nephropathy
- Alport syndrome
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
- ALPS
- ALPS due to CTLA4 haploinsuffiency
- ALPS-recurrent viral infections due to CASP8 deficiency
- ALS
- ALS4
- ALSG
- ALSP
- Alström syndrome
- ALT
- Alternating hemiplegia
- Alternating hemiplegia of childhood
- ALVC
- Alveolar capillary dysplasia with misalignment of pulmonary veins
- Alveolar capillary dysplasia with misalignment of pulmonary vessels
- Alveolar cleft lip and palate
- Alveolar echinococcosis
- Alveolar rhabdomyosarcoma
- Alveolar soft part sarcoma
- Alveolar soft tissue sarcoma
- ALX1-related frontonasal dysplasia
- ALX3-related frontonasal dysplasia
- ALX4-related FNDAG
- Alymphoid cystic thymic dysgenesis
- ALys amyloidosis
- ALYUS
- AMACR deficiency
- AMAN
- Amaurosis congenita of Leber
- Amaurosis-hypertrichosis syndrome
- Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome
- Ambras syndrome
- AMC
- AMeD syndrome
- Amelo-onycho-hypohidrotic syndrome
- Ameloblastic carcinoma
- Ameloblastoma
- Amelocerebrohypohidrotic syndrome
- Amelogenesis imperfecta
- Amelogenesis imperfecta type 1
- Amelogenesis imperfecta type 2
- Amelogenesis imperfecta type 3
- Amelogenesis imperfecta type 4
- Amelogenesis imperfecta-nephrocalcinosis syndrome
- Ameloonychohypohidrotic ectodermal dysplasia
- Ameloonychohypohidrotic syndrome
- American mountain fever
- American trypanosomiasis
- Amino acid or protein metabolism disease with epilepsy
- Aminoaciduria, Hartnup type
- Aminoacylase 1 deficiency
- Aminoacylase 2 deficiency
- Aminoacylase deficiency
- Aminopterin embryopathy syndrome
- Aminopterin syndrome-like sine aminopterin
- Aminopterin/methotrexate embryofetopathy
- Amish lethal microcephaly
- Amish nemaline myopathy
- AMKL
- AMKL in adult
- AML
- AML and myelodysplastic syndromes related to alkylating agent
- AML and myelodysplastic syndromes related to radiation
- AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
- AML M0
- AML M1
- AML M2
- AML M3
- AML M4
- AML M5
- AML M6
- AML M7
- AML M7 in adult
- AML with 11q23 abnormalities
- AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
- AML with BCR-ABL1
- AML with CEBPA somatic mutations
- AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
- AML with multilineage dysplasia
- AML with myelodysplasia-related features
- AML with NPM1 somatic mutations
- AML with recurrent genetic anomaly
- AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
- AML with t(6;9)(p23;q34)
- AML with t(8;16)(p11;p13) translocation
- AML with t(8;21)(q22;q22) translocation
- AML with t(9;11)(p22;q23)
- AML with t(9;22)(q34.1;q11.2)
- AMME complex
- AMME syndrome
- AMMoL
- Amniotic band sequence
- Amniotic band syndrome
- Amniotic fluid embolism
- AMNR
- aMOA
- Amoebiasis due to Entamoeba histolytica
- Amoebiasis due to free-living amoebae
- Amoebic keratitis
- AMOTL1-related syndrome
- AMP deaminase deficiency
- Ampola syndrome
- Ampulla cardiomyopathy
- Ampullary carcinoma
- Ampulloma
- AMRF
- AMSAN
- Amylo-1,6-glucosidase deficiency
- Amyloid lichen
- Amyloidosis
- Amyloidosis cutis dyschromia
- Amyloidosis cutis dyschromica
- Amyloidosis, Ostertag type
- Amylopectinosis
- Amyopathic dermatomyositis
- Amyoplasia congenita
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- Anal fistula
- Analphalipoproteinemia
- Anaphylactoid purpura
- Anaplastic astrocytoma
- Anaplastic ependymoma
- Anaplastic ganglioglioma
- Anaplastic large cell lymphoma
- Anaplastic oligoastrocytoma
- Anaplastic oligodendroglioma
- Anaplastic pilocytic astrocytoma
- Anaplastic thyroid carcinoma
- Anaplastic/large cell medulloblastoma
- Anastomosing haemangioma
- Anauxetic dysplasia
- ANCA-associated vasculitis
- Ancylostomiasis
- Andermann syndrome
- Andersen disease
- Andersen syndrome
- Andersen-Tawil syndrome
- Anderson disease
- Anderson-Fabry disease
- Androblastoma
- Androgen insensitivity syndrome
- Androgen resistance syndrome
- Androgenetic/biparental mosaicism
- ANE syndrome
- ANEC
- Aneurysm of sinus of Valsalva
- Aneurysm-osteoarthritis syndrome
- Aneurysmal bone cyst
- Aneurysmal telangiectasia
- Angel-shaped phalango-epiphyseal dysplasia
- Angelman syndrome
- Angelman syndrome due to a point mutation
- Angelman syndrome due to imprinting defect in 15q11-q13
- Angelman syndrome due to maternal 15q11q13 deletion
- Angelman syndrome due to maternal monosomy 15q11q13
- Angelman syndrome due to paternal uniparental disomy of chromosome 15
- Angiocentric cutaneous T-cell lymphoma of childhood
- Angiocentric glioma
- Angiocentric T-cell lymphoma
- Angiodysgenetic necrotizing myelopathy
- Angiodysplasia of the GI tract
- Angioendotheliomatosis proliferans systemisata
- Angiofollicular ganglionic hyperplasia
- Angiofollicular lymph hyperplasia
- Angioimmunoblastic T-cell lymphoma
- Angiolymphoid hyperplasia with eosinophilia
- Angioma serpiginosum
- Angiomatoid fibrous histiocytoma
- Angioneurotic edema
- Angioosteohypertrophic syndrome
- Angioosteohypotrophic syndrome
- Angiosarcoma
- Angiostrongyliasis
- Angiotropic large cell lymphoma
- Angora hair nevus
- Anguilluliasis
- Anguillulosis
- Anhidrotic ectodermal dysplasia
- Anhidrotic ectodermal dysplasia with immunodeficiency
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
- Aniridia-absent patella syndrome
- Aniridia-cerebellar ataxia-intellectual disability syndrome
- Aniridia-intellectual disability syndrome
- Aniridia-ptosis-intellectual disability-familial obesity syndrome
- Aniridia-renal agenesis-psychomotor retardation syndrome
- Anisakiasis
- ANK3-related intellectual disability-sleep disturbance syndrome
- ANKCL
- ANKRD11-related disorder
- Ankyloblepharon filiforme adnatum-cleft palate syndrome
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Ankylosing vertebral hyperostosis with tylosis
- Ankylosis of teeth
- Ankylostomiasis
- Annular atrophic lichen planus
- Annular atrophic LP
- Annular epidermolytic ichthyosis
- Annular lichen planus
- Annular LP
- Annular pancreas
- Annuloaortic ectasia
- ANOAC
- Anoctamin-5-related LGMD R12
- Anoctamin-5-related limb-girdle muscular dystrophy R12
- Anoctamin-5-related myopathy pseudometabolic phenotype
- Anodontia
- Anomalous aortic origin of coronary artery
- Anomalous aortic origin of the left coronary artery
- Anomalous aortic origin of the right coronary artery
- Anomalous origin of coronary artery from the pulmonary artery
- Anomaly of puberty or/and menstrual cycle
- Anomaly of puberty or/and menstrual cycle of genetic origin
- Anomaly of the coronary ostia
- Anomaly of the filum
- Anomaly of the mitral subvalvular apparatus
- Anomaly of the tricuspid subvalvular apparatus
- Anonychia congenita totalis
- Anonychia with flexural pigmentation
- Anonychia-microcephaly syndrome
- Anonychia-onychodystrophy syndrome
- Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome
- Anophthalmia plus syndrome
- Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- Anophthalmia-microphthalmia syndrome
- Anophthalmia-pulmonary hypoplasia syndrome
- Anophthalmia-syndactyly syndrome
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Anorectal malformation
- ANOTHER syndrome
- Anotia
- Antecubital pterygium syndrome
- Antenatal CMV infection
- Antenatal cytomegalovirus infection
- Antenatal EBV infection
- Antenatal enterovirus infection
- Antenatal Epstein-Barr virus infection
- Antenatal herpes simplex virus infection
- Antenatal multiminicore disease with arthrogryposis multiplex congenita
- Antenatal varicella virus infection
- Anterior basement membrane dystrophy
- Anterior bowing of legs with dwarfism
- Anterior corneal dystrophy
- Anterior cutaneous nerve entrapment syndrome
- Anterior encephalocele
- Anterior horn cell disease
- Anterior limiting membrane dystrophy type 1
- Anterior limiting membrane dystrophy type 2
- Anterior limiting membrane dystrophy type I
- Anterior limiting membrane dystrophy type II
- Anterior maxillary protrusion-strabismus-intellectual disability syndrome
- Anterior pituitary hypophysitis
- Anterior segment developmental abnormality with extraocular manifestations
- Anterior segment developmental anomaly
- Anterior segment developmental anomaly of genetic origin
- Anterior segment developmental anomaly without extraocular manifestations
- Anterior segment dysgenesis
- Anterior urethral valve
- Anterior uveitis
- Anti-aminoacyl-tRNA synthetase syndrome
- Anti-ARS syndrome
- Anti-C1q vasculitis
- Anti-GBM syndrome
- Anti-glomerular basement membrane disease
- Anti-IgLON5 disease
- Anti-IgLON5 syndrome
- Anti-Jo1 syndrome
- Anti-K HDN
- Anti-MAG neuropathy
- Anti-neutrophil cytoplasmic antibody-associated vasculitis
- anti-NMDA receptor encephalitis
- Anti-p200 pemphigoid
- Antineutrophil cytoplasmic antibody-associated vasculitis
- Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis
- Antinolo-Nieto-Borrego syndrome
- Antiphospholipid antibody syndrome
- Antiphospholipid syndrome
- Antiquitin deficiency
- Antisynthetase syndrome
- Antley-Bixler syndrome
- Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
- Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
- AO1
- AO2
- AO3
- AOA1
- AOA2
- AOA4
- AOFMD
- AOI
- AOII
- AOIII
- AOLCA
- AORCA
- Aorta coarctation
- Aortic aneurysm syndrome due to TGF-beta receptors anomalies
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
- Aortic arch defects
- Aortic arch interruption
- Aortic malformation
- Aorto-left ventricular tunnel
- Aorto-right ventricular tunnel
- Aorto-ventricular tunnel
- AOS
- AOSD
- AP/AT spectum
- AP4 deficiency syndrome
- aPAP
- APBD
- APC-related AFAP
- APC-related attenuated familial adenomatous polyposis
- APC-related attenuated familial polyposis coli
- APC-related attenuated FAP
- APCA
- APDS
- APDS type 1
- APDS type 2
- APDS1
- APDS2
- APECED syndrome
- Apert syndrome
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
- Aphalangy-syndactyly-microcephaly syndrome
- Aphallia
- Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome
- Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome
- Apical ballooning syndrome
- APLAID
- Aplasia cutis congenita
- Aplasia cutis congenita with distal limb anomalies
- Aplasia cutis congenita with terminal transverse limb defects
- Aplasia cutis congenita-epibulbar dermoids syndrome
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- Aplasia cutis congenita-nevus sebaceus syndrome
- Aplasia cutis-myopia syndrome
- Aplasia of lacrimal and salivary glands
- Aplasia of pulmonary artery
- Aplasia of the Müllerian ducts
- Aplasia of tibia with split-hand/split-foot deformity
- Aplasia/hypoplasia of limbs and pelvis
- Aplastic anemia-intellectual disability-dwarfism syndrome
- Aplastic desmosis coli
- APLS
- APML
- Apnea in full-term infants
- Apnea of infancy
- Apnea of prematurity
- ApoA-I deficiency
- Apolipoprotein A-I amyloidosis
- Apolipoprotein A-I binding protein deficiency
- Apolipoprotein A-I deficiency
- Apolipoprotein A-II amyloidosis
- Apolipoprotein A-IV amyloidosis
- Apparent mineralocorticoid excess
- Appendiceal epithelial tumor
- Appendiceal mucinous adenocarcinoma
- Appendiceal NEN
- Appendiceal neuroendocrine neoplasm
- Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome
- Aprosencephaly
- Aprosencephaly cerebellar dysgenesis
- Aprosencephaly/atelencephaly spectrum
- APRT deficiency
- APS
- APS type 1
- APS type 2
- APS type 3
- APS type 4
- APS1
- APS2
- APS3
- APS4
- APV/ADA, Fallot type
- APV/PDA, non-Fallot type
- Aquagenic keratoderma
- Aquagenic palmoplantar keratoderma
- Aquagenic syringeal acrokeratoderma
- Aquagenic wrinkling of the palms
- AR CID due to complete GP130 deficiency
- AR CID due to complete IL6ST deficiency
- AR CID due to IL6R deficiency
- AR CID due to partial GP130 deficiency
- AR CID due to partial IL6ST deficiency
- AR dRTA
- AR pRTA
- AR-CMT1
- AR-CMT2
- AR-CMT2 with acrodystrophy
- AR-CMT2, Ouvrier type
- AR-CMT2B1
- AR-CMT2B2
- AR-CMT2B5
- AR-CMT2C
- AR-CMT2T
- AR-CNM
- AR-HED
- AR-HIES due to ZNF341 deficiency
- AR-NSID
- AR-PKD
- AR-SPAX
- AR-SPG9B
- Arachnodactyly-abnormal ossification-intellectual disability syndrome
- Arachnodactyly-intellectual disability-dysmorphism syndrome
- Arachnoid cyst
- Arachnoiditis
- ARAN-NM
- ARBD
- Arboleda-Tham syndrome
- ARC syndrome
- ARCA
- ARCA1
- ARCA2
- ARCI
- ARCL1
- ARCL1C
- ARCL2
- ARCL2, classic type
- ARCL2, Debré type
- ARCL2, progeroid type
- ARCL2A
- ARCL2B
- ARCMT2-NM
- ARCMT2K
- ARCMT2X
- ARCN1-related syndrome
- ARED14
- AREDYLD syndrome
- AREI
- Areolar atrophy of the macula
- Argentine hemorrhagic fever
- Argentinian hemorrhagic fever
- Arginase 1 deficiency
- Arginase deficiency
- Arginine vasopressin deficiency
- Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome
- Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome
- Arginine vasopressin resistance
- Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
- Argininemia
- Argininosuccinase deficiency
- Argininosuccinate synthase deficiency
- Argininosuccinate synthetase deficiency
- Argininosuccinatelyase deficiency
- Argininosuccinic acid lyase deficiency
- Argininosuccinic acid synthase deficiency
- Argininosuccinic acid synthetase deficiency
- Argininosuccinic aciduria
- Argyria
- ARHR
- Arima syndrome
- Arkless-Graham syndrome
- ARM
- Armfield syndrome
- ARND
- Arndt-Gottron disease
- Arnold-Chiari malformation type 1
- Arnold-Chiari malformation type I
- Aromatase deficiency
- Aromatase excess syndrome
- Aromatic L-amino acid decarboxylase deficiency
- ARPC4-related syndrome
- arPEO
- Arrhenoblastoma
- Arrhythmogenic cardiomyopathy
- Arrhythmogenic cardiomyopathy dominant-left variant
- Arrhythmogenic cardiomyopathy dominant-right variant
- Arrhythmogenic cardiomyopathy with left ventricular involvement
- Arrhythmogenic cardiomyopathy with right ventricular involvement
- ARSA
- ARSACS
- ARSAL
- ARSB deficiency
- Arterial cervical rib syndrome
- Arterial costoclavicular syndrome
- Arterial dissection-lentiginosis syndrome
- Arterial duct anomaly
- Arterial hyperabduction syndrome
- Arterial scalenus anticus syndrome
- Arterial thoracic outlet compression syndrome
- Arterial thoracic outlet syndrome
- Arterial tortuosity syndrome
- Arterial TOS
- Arterial-ecchymotic EDS
- Arteriohepatic dysplasia
- Arteriohepatic dysplasia due to a JAG1 point mutation
- Arteriohepatic dysplasia due to a NOTCH2 point mutation
- Arteriohepatic dysplasia due to monosomy 20p12
- Arteriovenous malformation of gallbladder
- Arteriovenous malformation of mandible
- Arteriovenous malformation of maxilla
- Arteriovenous malformation of the kidney
- Arteriovenous malformation of the liver
- Arteriovenous malformation of the pancreas
- Arteriovenous malformation of the spleen
- Arteriovenous malformation of the urinary tract
- Arteriovenous malformation of the uterus
- Arthrochalasia EDS
- Arthrochalasia Ehlers-Danlos syndrome
- Arthrochalasis multiplex congenita
- Arthrodentoosteodysplasia
- Arthrogryposis multiplex congenita
- Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
- Arthrogryposis multiplex congenita-whistling face syndrome
- Arthrogryposis syndrome
- Arthrogryposis-anterior horn cell disease syndrome
- Arthrogryposis-ectodermal dysplasia syndrome
- Arthrogryposis-hyperkeratosis syndrome, lethal form
- Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
- Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome
- Arthrogryposis-like syndrome
- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
- Arthrogryposis-renal dysfunction-cholestasis syndrome
- Arthrogryposis-severe scoliosis syndrome
- Arthropathy-camptodactyly syndrome
- Arts syndrome
- ARX-related encephalopathy-brain malformation spectrum
- ARX-related epileptic encephalopathy
- Arylsulfatase A deficiency
- Arylsulfatase A deficiency, adult form
- Arylsulfatase A deficiency, juvenile form
- Arylsulfatase A deficiency, late infantile form
- Arylsulfatase B deficiency
- Arylsulfatase B deficiency, rapidly progressing
- Arylsulfatase B deficiency, slowly progressing
- AS syndrome
- ASA deficiency
- ASAN
- ASB deficiency
- Asbestos intoxication
- Asbestosis
- Ascending aorta anomaly
- Ascher syndrome
- ASCT1 deficiency
- ASD
- ASD due to AUTS2 deficiency
- ASD, coronary sinus type
- ASD, ostium primum type
- ASD, ostium secundum type
- ASD, sinus venosus type
- Aseptic abscess syndrome
- Aseptic abscesses syndrome
- Aseptic necrosis of patella
- Aseptic necrosis of phalangeal epiphyses
- Aseptic necrosis of the capital femoral epiphysis
- Aseptic necrosis of the capital humerus
- Aseptic necrosis of the lunate bone
- Aseptic necrosis of the tarsal bone
- Aseptic necrosis of the tibial tubercle
- Aseptic systemic abscesses
- Asherman syndrome
- Asidan
- ASL deficiency
- ASMD
- Asparagine synthetase deficiency
- Aspartoacylase deficiency
- Aspartylglucosaminidase deficiency
- Aspartylglucosaminuria
- ASPED
- Aspergillosis
- Asphyxiating thoracic dystrophy of the newborn
- ASPS
- ASS
- ASS deficiency
- ASSA
- Astley-Kendall dysplasia
- Astroblastoma
- Astrocytic tumor
- Astrocytoma
- Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome
- ASyS
- AT V1
- Ataxia neuropathy spectrum
- Ataxia with dementia
- Ataxia with isolated vitamin E deficiency
- Ataxia with lactic acidosis type 2
- Ataxia with lactic acidosis type II
- Ataxia with pigmentary retinopathy
- Ataxia with vitamin E deficiency
- Ataxia-deafness-intellectual disability syndrome
- Ataxia-delayed dentition-hypomyelination syndrome
- Ataxia-diabetes-goiter-gonadal insufficiency syndrome
- Ataxia-hearing loss-intellectual disability syndrome
- Ataxia-hypogonadism-choroidal dystrophy syndrome
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
- Ataxia-oculomotor apraxia type 1
- Ataxia-oculomotor apraxia type 2
- Ataxia-oculomotor apraxia type 4
- Ataxia-pancytopenia syndrome
- Ataxia-photosensitivity-short stature syndrome
- Ataxia-tapetoretinal degeneration syndrome
- Ataxia-telangiectasia
- Ataxia-telangiectasia variant
- Ataxia-telangiectasia, variant 1
- Ataxia-telangiectasia-like disorder
- Ataxo-opso-myoclonus syndrome
- Atelencephalic microcephaly
- Atelencephaly
- Atelosteogenesis type 1
- Atelosteogenesis type 2
- Atelosteogenesis type 3
- Atelosteogenesis type I
- Atelosteogenesis type II
- Atelosteogenesis type III
- Athabascan brainstem dysgenesis syndrome
- Athabaskan brainstem dysgenesis syndrome
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome
- Athyreosis
- Athyroidal hypothyroidism-spiky hair-cleft palate syndrome
- ATIC deficiency
- Atkin-Flaitz syndrome
- Atlantoaxial non-traumatic subluxation
- ATLD
- ATLL
- ATMDS
- Atopic keratoconjunctivitis
- ATOS
- ATP-binding cassette transporter A1 deficiency
- ATP13A2-related juvenile neuronal ceroid lipofuscinosis
- ATP13A2-related parkinsonism
- ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2
- ATP1A1-related CMT2
- ATP6AP1-CDG
- ATP6AP1-congenital disorder of glycosylation
- ATP7A-related distal motor neuropathy
- ATPase H+ transporting accessory protein 1-congenital disorder of glycosylation
- ATR syndrome linked to chromosome 16
- ATR syndrome, deletion type
- ATR-16 syndrome
- ATR-X syndrome
- Atresia of small bowel
- Atresia of small intestine
- Atresia of urethra
- Atrial appendage anomaly
- Atrial auricle anomaly
- Atrial cardiomyopathy with heart block
- Atrial defect and interauricular communication
- Atrial septal aneurysm
- Atrial septal defect
- Atrial septal defect, coronary sinus type
- Atrial septal defect, ostium primum type
- Atrial septal defect, ostium secundum type
- Atrial septal defect, sinus venosus type
- Atrial septal defect-atrioventricular conduction defects syndrome
- Atrial standstill
- Atrial tachyarrhythmia with short PR interval
- Atrichia with papular lesions
- Atriodigital dysplasia
- Atriodigital dysplasia type 1
- Atriodigital dysplasia type 2
- Atriodigital dysplasia type 3
- Atriodigital dysplasia, Slovenian type
- Atrioventricular canal defect
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- Atrioventricular septal defect
- Atrioventricular valve anomaly
- Atrophia areata
- Atrophia bulborum hereditaria
- Atrophic lichen planus
- Atrophic LP
- Atrophic papulosis
- Atrophoderma of Pasini and Pierini
- Atrophoderma vermiculata
- ATRT
- ATRUS syndrome
- ATS
- ATS
- ATS-MR
- Attenuated Chédiak-Higashi syndrome
- Attenuated familial adenomatous polyposis
- Attenuated familial polyposis coli
- Attenuated FAP
- aTTP
- ATTRv amyloidosis
- ATTRV122I amyloidosis
- ATTRV122I-related amyloidosis
- ATTRV30M amyloidosis
- ATTRV30M-related amyloidosis
- ATTRwt amyloidosis
- ATTRwt-related amyloidosis
- Atypical autism
- Atypical choroid plexus papilloma
- Atypical chronic myeloid leukemia
- Atypical Chédiak-Higashi syndrome
- Atypical CPP
- Atypical Demons-Meigs syndrome
- Atypical dentin dysplasia due to SMOC2 deficiency
- Atypical facial pain
- Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
- Atypical fibromuscular dysplasia
- Atypical FMD
- Atypical Gaucher disease due to saposin C deficiency
- Atypical glycine encephalopathy
- Atypical granular corneal dystrophy
- Atypical HCS
- Atypical hemolytic uremic syndrome
- Atypical hemolytic uremic syndrome with anti-factor H antibodies
- Atypical hemolytic uremic syndrome with complement gene abnormality
- Atypical HUS
- Atypical HUS with anti-factor H antibodies
- Atypical HUS with complement gene abnormality
- Atypical hypotonia-cystinuria syndrome
- Atypical juvenile parkinsonism
- Atypical lichen myxedematosus
- Atypical lipoma
- Atypical lipomatous tumor
- Atypical LQT8
- Atypical macular coloboma
- Atypical Meigs syndrome
- Atypical MRKH syndrome
- Atypical NKA
- Atypical non-ketotic hyperglycinemia
- Atypical Norrie disease due to del(X)(p11.3)
- Atypical Norrie disease due to nullisomy Xp11.3
- Atypical Norrie disease due to Xp11.3 microdeletion
- Atypical pantothenate kinase-associated neurodegeneration
- Atypical papilloma of choroid plexus
- Atypical parkinsonism in the Caribbean
- Atypical progeroid syndrome
- Atypical progressive supranuclear palsy syndrome
- Atypical PSP syndrome
- Atypical Rett syndrome
- Atypical RTT
- Atypical teratoid rhabdoid tumor
- Atypical Timothy syndrome
- Atypical tuberous myxedema of Jadassohn-Dosseker
- Atypical Werner syndrome
- Atypical X-linked achromatopsia
- Au-Kline syndrome
- Audiogenic seizures
- Auditory neuropathy-optic atrophy syndrome
- Aughton-Hufnagle syndrome
- Aural atresia-multiple congenital anomalies-intellectual disability syndrome
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- Auriculo-temporal syndrome
- Auriculocondylar syndrome
- Auriculoosteodysplasia
- Auriculotemporal syndrome
- Ausems-Wittebol Post-Hennekam syndrome
- Austin disease
- Autism spectrum disorder due to AUTS2 deficiency
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome
- Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
- Autoantibody-negative autoimmune hepatitis
- Autoerythrocyte sensitization syndrome
- Autoimmune Addison disease
- Autoimmune adrenalitis
- Autoimmune bullous skin disease
- Autoimmune cerebellitis
- Autoimmune disease with skin involvement
- Autoimmune encephalitis
- Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
- Autoimmune enteropathy
- Autoimmune enteropathy type 1
- Autoimmune hemolytic anemia
- Autoimmune hemolytic anemia and autoimmune thrombocytopenia
- Autoimmune hemolytic anemia, cold type
- Autoimmune hemolytic anemia, warm type
- Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
- Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II
- Autoimmune hepatitis
- Autoimmune hepatitis type 1
- Autoimmune hepatitis type 2
- Autoimmune hypoparathyroidism
- Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
- Autoimmune hypophysitis
- Autoimmune interstitial lung disease-arthritis syndrome
- Autoimmune limbic encephalitis
- Autoimmune lymphoproliferative syndrome
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
- Autoimmune lymphoproliferative syndrome-recurrent viral infections due to Caspase 8 deficiency
- Autoimmune myasthenia gravis
- Autoimmune necrotizing myositis
- Autoimmune neurological channelopathy
- Autoimmune pancreatitis
- Autoimmune pancreatitis type 1
- Autoimmune pancreatitis type 2
- Autoimmune PAP
- Autoimmune polyendocrine syndrome type 1
- Autoimmune polyendocrine syndrome type 2
- Autoimmune polyendocrine syndrome type 3
- Autoimmune polyendocrine syndrome type 4
- Autoimmune polyendocrinopathy
- Autoimmune polyendocrinopathy type 1
- Autoimmune polyendocrinopathy type 2
- Autoimmune polyendocrinopathy type 3
- Autoimmune polyendocrinopathy type 4
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
- Autoimmune polyglandular syndrome
- Autoimmune polyglandular syndrome type 1
- Autoimmune polyglandular syndrome type 2
- Autoimmune polyglandular syndrome type 3
- Autoimmune polyglandular syndrome type 4
- Autoimmune pulmonary alveolar proteinosis
- Autoimmune thrombocytopenia
- Autoimmune thrombotic thrombocytopenic purpura
- Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome
- Autoimmune/inflammatory optic neuropathy
- Autoinflammation-lipodystrophy-dermatosis syndrome
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
- Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
- Autoinflammatory syndrome
- Autoinflammatory syndrome of childhood
- Autoinflammatory syndrome with acne and/or hidradenitis suppurativa
- Autoinflammatory syndrome with immune deficiency
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
- Autoinflammatory syndrome with skin involvement
- Autosomal anomaly syndrome
- Autosomal congenital ichthyosis, Harlequin type
- Autosomal deletion
- Autosomal dominant adult-onset proximal SMA
- Autosomal dominant adult-onset proximal spinal muscular atrophy
- Autosomal dominant Alport syndrome
- Autosomal dominant anhidrotic ectodermal dysplasia
- Autosomal dominant aplasia and myelodysplasia
- Autosomal dominant aplastic anemia and myelodysplasia
- Autosomal dominant axonal Charcot-Marie-Tooth disease
- Autosomal dominant benign distal spinal muscular atrophy
- Autosomal dominant beta2-microglobulinic amyloidosis
- Autosomal dominant brachyolmia
- Autosomal dominant centronuclear myopathy
- Autosomal dominant cerebellar ataxia
- Autosomal dominant cerebellar ataxia type 1
- Autosomal dominant cerebellar ataxia type 2
- Autosomal dominant cerebellar ataxia type 3
- Autosomal dominant cerebellar ataxia type 4
- Autosomal dominant cerebellar ataxia type I
- Autosomal dominant cerebellar ataxia type II
- Autosomal dominant cerebellar ataxia type III
- Autosomal dominant cerebellar ataxia type IV
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome
- Autosomal dominant Charcot-Marie-Tooth disease type 2
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1
- Autosomal dominant Charcot-Marie-Tooth disease type 2A2
- Autosomal dominant Charcot-Marie-Tooth disease type 2B
- Autosomal dominant Charcot-Marie-Tooth disease type 2C
- Autosomal dominant Charcot-Marie-Tooth disease type 2D
- Autosomal dominant Charcot-Marie-Tooth disease type 2DD
- Autosomal dominant Charcot-Marie-Tooth disease type 2E
- Autosomal dominant Charcot-Marie-Tooth disease type 2F
- Autosomal dominant Charcot-Marie-Tooth disease type 2G
- Autosomal dominant Charcot-Marie-Tooth disease type 2I
- Autosomal dominant Charcot-Marie-Tooth disease type 2J
- Autosomal dominant Charcot-Marie-Tooth disease type 2K
- Autosomal dominant Charcot-Marie-Tooth disease type 2L
- Autosomal dominant Charcot-Marie-Tooth disease type 2M
- Autosomal dominant Charcot-Marie-Tooth disease type 2N
- Autosomal dominant Charcot-Marie-Tooth disease type 2O
- Autosomal dominant Charcot-Marie-Tooth disease type 2Q
- Autosomal dominant Charcot-Marie-Tooth disease type 2U
- Autosomal dominant Charcot-Marie-Tooth disease type 2V
- Autosomal dominant Charcot-Marie-Tooth disease type 2W
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- Autosomal dominant childhood-onset proximal spinal muscular atrophy
- Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency
- Autosomal dominant combined immunodeficiency due to ERBIN deficiency
- Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency
- Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
- Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency
- Autosomal dominant complex HSP
- Autosomal dominant complex spastic paraplegia
- Autosomal dominant complex SPG
- Autosomal dominant complicated HSP
- Autosomal dominant complicated spastic paraplegia
- Autosomal dominant complicated SPG
- Autosomal dominant congenital benign spinal muscular atrophy
- Autosomal dominant cortical myoclonus and epilepsy
- Autosomal dominant cutis laxa
- Autosomal dominant cystoid macular edema
- Autosomal dominant deafness-onychodystrophy syndrome
- Autosomal dominant demyelinating Charcot-Marie-Tooth disease
- Autosomal dominant dHMN
- Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis
- Autosomal dominant diffuse mutilating palmoplantar keratoderma
- Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature
- Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
- Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature
- Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
- Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature
- Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
- Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
- Autosomal dominant distal hereditary motor neuropathy
- Autosomal dominant distal juvenile spinal muscular atrophy type 1
- Autosomal dominant distal myopathy
- Autosomal dominant distal renal tubular acidosis
- Autosomal dominant distal spinal muscular atrophy
- Autosomal dominant dopa-responsive dystonia
- Autosomal dominant Emery-Dreifuss muscular dystrophy
- Autosomal dominant epidermolytic ichthyosis
- Autosomal dominant epilepsy with auditory features
- Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
- Autosomal dominant focal dystonia, DYT25 type
- Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
- Autosomal dominant generalized dystrophic epidermolysis bullosa
- Autosomal dominant generalized EBS, intermediate form
- Autosomal dominant generalized EBS, severe form
- Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- Autosomal dominant gingival fibromatosis
- Autosomal dominant gingival hyperplasia
- Autosomal dominant hearing loss-onychodystrophy syndrome
- Autosomal dominant hereditary axonal motor and sensory neuropathy
- Autosomal dominant hereditary demyelinating motor and sensory neuropathy
- Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons
- Autosomal dominant hereditary sensory and autonomic neuropathy
- Autosomal dominant HIES due to STAT3 deficiency
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
- Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency
- Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
- Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
- Autosomal dominant hyperinsulinism due to SUR1 deficiency
- Autosomal dominant hypocalcemia
- Autosomal dominant hypohidrotic ectodermal dysplasia
- Autosomal dominant hypophosphatemia
- Autosomal dominant hypophosphatemic rickets
- Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
- Autosomal dominant intermediate Charcot-Marie-Tooth disease
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
- Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
- Autosomal dominant intermediate CMT disease with neuropathic pain
- Autosomal dominant isolated diffuse palmoplantar hyperkeratosis
- Autosomal dominant isolated diffuse palmoplantar keratoderma
- Autosomal dominant isolated neurosensory deafness type DFNA
- Autosomal dominant isolated neurosensory hearing loss type DFNA
- Autosomal dominant isolated sensorineural deafness type DFNA
- Autosomal dominant isolated sensorineural hearing loss type DFNA
- Autosomal dominant Kenny-Caffey syndrome
- Autosomal dominant keratitis
- Autosomal dominant keratoconus with early-onset anterior polar cataracts
- Autosomal dominant late-onset Parkinson disease
- Autosomal dominant late-onset retinal degeneration
- Autosomal dominant late-onset spinal muscular atrophy, Finkel type
- Autosomal dominant lateral temporal lobe epilepsy
- Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
- Autosomal dominant limb-girdle muscular dystrophy
- Autosomal dominant limb-girdle muscular dystrophy type 1A
- Autosomal dominant limb-girdle muscular dystrophy type 1D
- Autosomal dominant limb-girdle muscular dystrophy type 1F
- Autosomal dominant limb-girdle muscular dystrophy type 1G
- Autosomal dominant macrothrombocytopenia
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
- Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
- Autosomal dominant mitochondrial myopathy with exercise intolerance
- Autosomal dominant MSMD due to a partial deficiency
- Autosomal dominant MSMD due to partial IFNgammaR1 deficiency
- Autosomal dominant MSMD due to partial IFNgammaR2 deficiency
- Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
- Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency
- Autosomal dominant multiple pterygium syndrome
- Autosomal dominant myoglobinuria
- Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome
- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- Autosomal dominant myosin storage myopathy
- Autosomal dominant neovascular inflammatory vitreoretinopathy
- Autosomal dominant nocturnal frontal lobe epilepsy
- Autosomal dominant non-syndromic intellectual disability
- Autosomal dominant non-syndromic neurosensory deafness type DFNA
- Autosomal dominant non-syndromic neurosensory hearing loss type DFNA
- Autosomal dominant non-syndromic sensorineural hearing loss type DFNA
- Autosomal dominant omodysplasia
- Autosomal dominant optic atrophy
- Autosomal dominant optic atrophy and cataract
- Autosomal dominant optic atrophy and peripheral neuropathy
- Autosomal dominant optic atrophy plus syndrome
- Autosomal dominant optic atrophy type 3
- Autosomal dominant optic atrophy, classic form
- Autosomal dominant optic atrophy, Kjer type
- Autosomal dominant osteopetrosis type 1
- Autosomal dominant osteosclerosis, Stanescu type
- Autosomal dominant osteosclerosis, Worth type
- Autosomal dominant otospondylomegaepiphyseal dysplasia
- Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
- Autosomal dominant palmoplantar keratoderma and congenital alopecia
- Autosomal dominant PHA1
- Autosomal dominant polycystic kidney disease
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
- Autosomal dominant polycystic liver disease
- Autosomal dominant popliteal pterygium syndrome
- Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
- Autosomal dominant primary hypomagnesemia with hypocalciuria
- Autosomal dominant primary microcephaly
- Autosomal dominant prognathism
- Autosomal dominant progressive external ophthalmoplegia
- Autosomal dominant progressive nephropathy with hypertension
- Autosomal dominant proximal renal tubular acidosis
- Autosomal dominant proximal spinal muscular atrophy
- Autosomal dominant pseudohypoaldosteronism type 1
- Autosomal dominant pure HSP
- Autosomal dominant pure spastic paraplegia
- Autosomal dominant pure SPG
- Autosomal dominant rhegmatogenous retinal detachment
- Autosomal dominant Robinow syndrome
- Autosomal dominant secondary erythrocytosis
- Autosomal dominant secondary polycythemia
- Autosomal dominant Segawa syndrome
- Autosomal dominant severe congenital neutropenia
- Autosomal dominant sleep-related hypermotor epilepsy
- Autosomal dominant slowed nerve conduction velocity
- Autosomal dominant spastic ataxia
- Autosomal dominant spastic ataxia type 1
- Autosomal dominant spastic ataxia type 7
- Autosomal dominant spastic paraplegia type 10
- Autosomal dominant spastic paraplegia type 12
- Autosomal dominant spastic paraplegia type 13
- Autosomal dominant spastic paraplegia type 17
- Autosomal dominant spastic paraplegia type 19
- Autosomal dominant spastic paraplegia type 29
- Autosomal dominant spastic paraplegia type 3
- Autosomal dominant spastic paraplegia type 31
- Autosomal dominant spastic paraplegia type 36
- Autosomal dominant spastic paraplegia type 37
- Autosomal dominant spastic paraplegia type 38
- Autosomal dominant spastic paraplegia type 3A
- Autosomal dominant spastic paraplegia type 4
- Autosomal dominant spastic paraplegia type 41
- Autosomal dominant spastic paraplegia type 42
- Autosomal dominant spastic paraplegia type 6
- Autosomal dominant spastic paraplegia type 73
- Autosomal dominant spastic paraplegia type 8
- Autosomal dominant spastic paraplegia type 80
- Autosomal dominant spastic paraplegia type 9A
- Autosomal dominant spastic paraplegia type 9B
- Autosomal dominant spinocerebellar ataxia
- Autosomal dominant spondylocostal dysostosis
- Autosomal dominant spondylocostal dysplasia
- Autosomal dominant striatal neurodegeneration
- Autosomal dominant thrombocytopenia with platelet secretion defect
- Autosomal dominant tubulointerstitial kidney disease
- Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation
- Autosomal dominant uncomplicated HSP
- Autosomal dominant uncomplicated spastic paraplegia
- Autosomal dominant uncomplicated SPG
- Autosomal dominant vitreoretinochoroidopathy
- Autosomal duplication
- Autosomal erythropoietic protoporphyria
- Autosomal ichthyosis syndrome
- Autosomal ichthyosis syndrome with fatal disease course
- Autosomal ichthyosis syndrome with other associated signs
- Autosomal ichthyosis syndrome with prominent hair abnormalities
- Autosomal ichthyosis syndrome with prominent neurologic signs
- Autosomal monosomy syndrome
- Autosomal non-syndromic agammaglobulinemia
- Autosomal recesive ectodermal dysplasia 14
- Autosomal recessive Alport syndrome
- Autosomal recessive anhidrotic ectodermal dysplasia
- Autosomal recessive anterior segment dysgenesis
- Autosomal recessive ataxia due to coenzyme Q10 deficiency
- Autosomal recessive ataxia due to PEX10 deficiency
- Autosomal recessive ataxia due to PEX16 deficiency
- Autosomal recessive ataxia due to PEX2 deficiency
- Autosomal recessive ataxia due to ubiquinone deficiency
- Autosomal recessive ataxia, Beauce type
- Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
- Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
- Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2
- Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
- Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T
- Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy
- Autosomal recessive axonal CMT due to copper metabolism defect
- Autosomal recessive axonal CMT4C1
- Autosomal recessive axonal CMT4C2
- Autosomal recessive axonal CMT4C3
- Autosomal recessive axonal CMT4C4
- Autosomal recessive axonal hereditary motor and sensory neuropathy
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive bestrophinopathy
- Autosomal recessive brachyolmia
- Autosomal recessive centronuclear myopathy
- Autosomal recessive cerebellar ataxia
- Autosomal recessive cerebellar ataxia due to a DNA repair defect
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
- Autosomal recessive cerebellar ataxia due to GBA2 deficiency
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- Autosomal recessive cerebellar ataxia type 1
- Autosomal recessive cerebellar ataxia type 2
- Autosomal recessive cerebellar ataxia with late-onset spasticity
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
- Autosomal recessive cerebellar ataxia-movement disorder syndrome
- Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- Autosomal recessive cerebelloparenchymal disorder type 3
- Autosomal recessive cerebral atrophy
- Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation
- Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
- Autosomal recessive Charcot-Marie-Tooth disease type 2B1
- Autosomal recessive Charcot-Marie-Tooth disease type 2B5
- Autosomal recessive Charcot-Marie-Tooth disease type 2X
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
- Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy
- Autosomal recessive CHED
- Autosomal recessive childhood-onset dystonia, DYT29 type
- Autosomal recessive chorioretinopathy-microcephaly syndrome
- Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
- Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency
- Autosomal recessive combined immunodeficiency due to complete glycoprotein 130 deficiency
- Autosomal recessive combined immunodeficiency due to complete IL6 signal transducer protein deficiency
- Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
- Autosomal recessive combined immunodeficiency due to IL6R deficiency
- Autosomal recessive combined immunodeficiency due to partial glycoprotein 130 deficiency
- Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency
- Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
- Autosomal recessive complex HSP
- Autosomal recessive complex spastic paraplegia
- Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- Autosomal recessive complex SPG
- Autosomal recessive complex SPG due to Kennedy pathway dysfunction
- Autosomal recessive complicated HSP
- Autosomal recessive complicated spastic paraplegia
- Autosomal recessive complicated SPG
- Autosomal recessive congenital cerebellar ataxia
- Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
- Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency
- Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
- Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
- Autosomal recessive congenital hereditary endothelial dystrophy
- Autosomal recessive congenital hypomyelinating neuropathy
- Autosomal recessive congenital ichthyosis
- Autosomal recessive cutis laxa type 1
- Autosomal recessive cutis laxa type 1C
- Autosomal recessive cutis laxa type 2
- Autosomal recessive cutis laxa type 2, classic type
- Autosomal recessive cutis laxa type 2, Debré type
- Autosomal recessive cutis laxa type 2, progeroid type
- Autosomal recessive cutis laxa type 2A
- Autosomal recessive cutis laxa type 2B
- Autosomal recessive cutis laxa with severe systemic involvement
- Autosomal recessive cutis laxa, pulmonary emphysema type
- Autosomal recessive deafness-onychodystrophy syndrome
- Autosomal recessive degenerative and progressive cerebellar ataxia
- Autosomal recessive demyelinating Charcot-Marie-Tooth
- Autosomal recessive dHMN
- Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature
- Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
- Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature
- Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
- Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature
- Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
- Autosomal recessive distal hereditary motor neuropathy
- Autosomal recessive distal myopathy
- Autosomal recessive distal osteolysis syndrome
- Autosomal recessive distal renal tubular acidosis
- Autosomal recessive distal RTA
- Autosomal recessive distal spinal muscular atrophy
- Autosomal recessive distal spinal muscular atrophy type 1
- Autosomal recessive distal spinal muscular atrophy type 2
- Autosomal recessive distal spinal muscular atrophy type 3
- Autosomal recessive distal spinal muscular atrophy type 4
- Autosomal recessive distal spinal muscular atrophy type 5
- Autosomal recessive dopa-responsive dystonia
- Autosomal recessive dSMA
- Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
- Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
- Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
- Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
- Autosomal recessive Emery-Dreifuss muscular dystrophy
- Autosomal recessive epidermolytic ichthyosis
- Autosomal recessive exfoliative ichthyosis
- Autosomal recessive extra-oral halitosis
- Autosomal recessive faciodigitogenital syndrome
- Autosomal recessive frontotemporal pachygyria
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- Autosomal recessive generalized EBS
- Autosomal recessive generalized epidermolysis bullosa simplex
- Autosomal recessive hearing loss-onychodystrophy syndrome
- Autosomal recessive hereditary demyelinating motor and sensory neuropathy
- Autosomal recessive hereditary sensory and autonomic neuropathy
- Autosomal recessive HIES due to ZNF341 deficiency
- Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
- Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency
- Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
- Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- Autosomal recessive hyperinsulinism due to SUR1 deficiency
- Autosomal recessive hypohidrotic ectodermal dysplasia
- Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia
- Autosomal recessive hypophosphatemic rickets
- Autosomal recessive infantile hypercalcemia
- Autosomal recessive infantile nephronophthisis
- Autosomal recessive infantile NPHP
- Autosomal recessive intellectual disability due to TRAPPC9 deficiency
- Autosomal recessive intermediate Charcot-Marie-Tooth disease
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
- Autosomal recessive intermediate osteopetrosis
- Autosomal recessive isolated diffuse palmoplantar hyperkeratosis
- Autosomal recessive isolated diffuse palmoplantar keratoderma
- Autosomal recessive isolated neurosensory deafness type DFNB
- Autosomal recessive isolated neurosensory hearing loss type DFNB
- Autosomal recessive isolated optic atrophy
- Autosomal recessive isolated sensorineural deafness type DFNB
- Autosomal recessive isolated sensorineural hearing loss type DFNB
- Autosomal recessive Kenny-Caffey syndrome
- Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type
- Autosomal recessive lethal multiple pterygium syndrome
- Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
- Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
- Autosomal recessive LGMD type 2M
- Autosomal recessive limb-girdle muscular dystrophy
- Autosomal recessive limb-girdle muscular dystrophy type 2A
- Autosomal recessive limb-girdle muscular dystrophy type 2B
- Autosomal recessive limb-girdle muscular dystrophy type 2C
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Autosomal recessive limb-girdle muscular dystrophy type 2E
- Autosomal recessive limb-girdle muscular dystrophy type 2F
- Autosomal recessive limb-girdle muscular dystrophy type 2G
- Autosomal recessive limb-girdle muscular dystrophy type 2H
- Autosomal recessive limb-girdle muscular dystrophy type 2I
- Autosomal recessive limb-girdle muscular dystrophy type 2J
- Autosomal recessive limb-girdle muscular dystrophy type 2K
- Autosomal recessive limb-girdle muscular dystrophy type 2L
- Autosomal recessive limb-girdle muscular dystrophy type 2M
- Autosomal recessive limb-girdle muscular dystrophy type 2N
- Autosomal recessive limb-girdle muscular dystrophy type 2O
- Autosomal recessive limb-girdle muscular dystrophy type 2P
- Autosomal recessive limb-girdle muscular dystrophy type 2Q
- Autosomal recessive limb-girdle muscular dystrophy type 2S
- Autosomal recessive limb-girdle muscular dystrophy type 2T
- Autosomal recessive limb-girdle muscular dystrophy type 2U
- Autosomal recessive limb-girdle muscular dystrophy type 2Y
- Autosomal recessive limb-girdle muscular dystrophy type 2Z
- Autosomal recessive limb-girdle muscular dystrophy, type 28
- Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome
- Autosomal recessive lower motor neuron disease with childhood onset
- Autosomal recessive lymphoproliferative disease due to CD27 deficiency
- Autosomal recessive lymphoproliferative disease due to ITK deficiency
- Autosomal recessive malignant osteopetrosis
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
- Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
- Autosomal recessive metabolic cerebellar ataxia
- Autosomal recessive metaphyseal chondrodysplasia
- Autosomal recessive methemoglobinemia
- Autosomal recessive MSMD due to a complete deficiency
- Autosomal recessive MSMD due to a partial deficiency
- Autosomal recessive MSMD due to partial IFNgammaR1 deficiency
- Autosomal recessive MSMD due to partial IFNgammaR2 deficiency
- Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
- Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency
- Autosomal recessive multiple epiphyseal dysplasia
- Autosomal recessive multiple pterygium syndrome
- Autosomal recessive muscular dystrophy due to LAP1B deficiency
- Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
- Autosomal recessive myogenic AMC
- Autosomal recessive myogenic arthrogryposis multiplex congenita
- Autosomal recessive myosin storage myopathy
- Autosomal recessive nail dysplasia
- Autosomal recessive non-lethal multiple pterygium syndrome
- Autosomal recessive non-syndromic intellectual disability
- Autosomal recessive non-syndromic neurosensory deafness type DFNB
- Autosomal recessive non-syndromic neurosensory hearing loss type DFNB
- Autosomal recessive non-syndromic optic atrophy
- Autosomal recessive non-syndromic sensorineural hearing loss type DFNB
- Autosomal recessive omodysplasia
- Autosomal recessive optic atrophy plus syndrome
- Autosomal recessive optic atrophy type 3
- Autosomal recessive optic atrophy, OPA7 type
- Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
- Autosomal recessive osteopetrosis type 7
- Autosomal recessive otospondylomegaepiphyseal dysplasia
- Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
- Autosomal recessive palmoplantar keratoderma and congenital alopecia
- Autosomal recessive PHA1
- Autosomal recessive polycystic kidney disease
- Autosomal recessive popliteal pterygium syndrome
- Autosomal recessive posterior column ataxia and retinitis pigmentosa
- Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
- Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
- Autosomal recessive primary microcephaly
- Autosomal recessive progressive external ophthalmoplegia
- Autosomal recessive proximal renal tubular acidosis
- Autosomal recessive pseudohypoaldosteronism type 1
- Autosomal recessive pure HSP
- Autosomal recessive pure spastic paraplegia
- Autosomal recessive pure SPG
- Autosomal recessive Robinow syndrome
- Autosomal recessive secondary erythrocytosis not associated with VHL gene
- Autosomal recessive secondary erythrocytosis, non-Chuvash type
- Autosomal recessive secondary polycythemia not associated with VHL gene
- Autosomal recessive secondary polycythemia, non-Chuvash type
- Autosomal recessive Segawa syndrome
- Autosomal recessive sensory radicular neuropathy
- Autosomal recessive sepiapterin reductase-deficient DRD
- Autosomal recessive severe congenital neutropenia
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
- Autosomal recessive sideroblastic anemia
- Autosomal recessive spastic ataxia
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Autosomal recessive spastic ataxia type 3
- Autosomal recessive spastic ataxia type 4
- Autosomal recessive spastic ataxia type 5
- Autosomal recessive spastic ataxia type 6
- Autosomal recessive spastic ataxia with leukoencephalopathy
- Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
- Autosomal recessive spastic paraplegia type 11
- Autosomal recessive spastic paraplegia type 14
- Autosomal recessive spastic paraplegia type 15
- Autosomal recessive spastic paraplegia type 20
- Autosomal recessive spastic paraplegia type 21
- Autosomal recessive spastic paraplegia type 23
- Autosomal recessive spastic paraplegia type 24
- Autosomal recessive spastic paraplegia type 25
- Autosomal recessive spastic paraplegia type 26
- Autosomal recessive spastic paraplegia type 27
- Autosomal recessive spastic paraplegia type 28
- Autosomal recessive spastic paraplegia type 32
- Autosomal recessive spastic paraplegia type 35
- Autosomal recessive spastic paraplegia type 39
- Autosomal recessive spastic paraplegia type 43
- Autosomal recessive spastic paraplegia type 44
- Autosomal recessive spastic paraplegia type 45
- Autosomal recessive spastic paraplegia type 46
- Autosomal recessive spastic paraplegia type 48
- Autosomal recessive spastic paraplegia type 49
- Autosomal recessive spastic paraplegia type 53
- Autosomal recessive spastic paraplegia type 54
- Autosomal recessive spastic paraplegia type 55
- Autosomal recessive spastic paraplegia type 56
- Autosomal recessive spastic paraplegia type 57
- Autosomal recessive spastic paraplegia type 59
- Autosomal recessive spastic paraplegia type 5A
- Autosomal recessive spastic paraplegia type 60
- Autosomal recessive spastic paraplegia type 61
- Autosomal recessive spastic paraplegia type 62
- Autosomal recessive spastic paraplegia type 63
- Autosomal recessive spastic paraplegia type 64
- Autosomal recessive spastic paraplegia type 65
- Autosomal recessive spastic paraplegia type 66
- Autosomal recessive spastic paraplegia type 67
- Autosomal recessive spastic paraplegia type 69
- Autosomal recessive spastic paraplegia type 70
- Autosomal recessive spastic paraplegia type 71
- Autosomal recessive spastic paraplegia type 74
- Autosomal recessive spastic paraplegia type 75
- Autosomal recessive spastic paraplegia type 76
- Autosomal recessive spastic paraplegia type 77
- Autosomal recessive spastic paraplegia type 78
- Autosomal recessive spastic paraplegia type 79
- Autosomal recessive spastic paraplegia type 81
- Autosomal recessive spastic paraplegia type 82
- Autosomal recessive spastic paraplegia type 83
- Autosomal recessive spastic paraplegia type 84
- Autosomal recessive spastic paraplegia type 85
- Autosomal recessive spastic paraplegia type 86
- Autosomal recessive spastic paraplegia type 87
- Autosomal recessive spastic paraplegia type 9B
- Autosomal recessive spastic paraplegia-disc herniation syndrome
- Autosomal recessive spinal muscular atrophy with respiratory distress
- Autosomal recessive spinocerebellar ataxia type 10
- Autosomal recessive spinocerebellar ataxia type 11
- Autosomal recessive spinocerebellar ataxia type 12
- Autosomal recessive spinocerebellar ataxia type 13
- Autosomal recessive spinocerebellar ataxia type 14
- Autosomal recessive spinocerebellar ataxia type 15
- Autosomal recessive spinocerebellar ataxia type 2
- Autosomal recessive spinocerebellar ataxia type 20
- Autosomal recessive spinocerebellar ataxia type 21
- Autosomal recessive spinocerebellar ataxia type 3
- Autosomal recessive spinocerebellar ataxia type 6
- Autosomal recessive spinocerebellar ataxia type 7
- Autosomal recessive spinocerebellar ataxia type 9
- Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
- Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
- Autosomal recessive spondylocostal dysostosis
- Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
- Autosomal recessive Stickler syndrome
- Autosomal recessive syndromic cerebellar ataxia
- Autosomal recessive thrombophilia due to congenital protein C deficiency
- Autosomal recessive thrombophilia due to congenital protein S deficiency
- Autosomal recessive thrombophilia due to PC deficiency
- Autosomal recessive uncomplicated HSP
- Autosomal recessive uncomplicated spastic paraplegia
- Autosomal recessive uncomplicated SPG
- Autosomal semi-dominant severe lipodystrophic laminopathy
- Autosomal SLE
- Autosomal spastic ataxia type 2
- Autosomal spastic paraplegia type 18
- Autosomal spastic paraplegia type 30
- Autosomal spastic paraplegia type 58
- Autosomal spastic paraplegia type 72
- Autosomal systemic lupus erythematosus
- Autosomal thrombocytopenia with normal platelets
- Autosomal trisomy syndrome
- Autosomal uniparental disomy syndrome
- AUTS2 syndrome
- Avascular necrosis
- Avascular necrosis of genetic origin
- Avascular necrosis of the metatarsal bone
- Avascular necrosis of the tarsal bone
- AVED
- Avellino corneal dystrophy
- Avian influenza
- AVMD
- AVN
- AVSD
- AxD
- AxD type I
- AxD type II
- Axenfeld anomaly
- Axenfeld syndrome
- Axenfeld-Rieger syndrome
- Axial mesodermal dysplasia spectrum
- Axial osteosclerosis
- Axial spondylometaphyseal dysplasia
- AXIN2-related AFAP
- AXIN2-related attenuated familial adenomatous polyposis
- AXIN2-related attenuated familial polyposis coli
- AXIN2-related attenuated FAP
- Axonal Charcot-Marie-Tooth disease with pyramidal involvement
- Axonal hereditary motor and sensory neuropathy
- Axonal HMSN
- Axonal neuropathy-optic atrophy-cognitive deficit syndrome
- Ayazi syndrome
- Aymé-Gripp syndrome
- AZOOR
- Azoospermia-sinopulmonary infections syndrome
- Azorean disease of the nervous system
- Azygos continuation of the inferior caval vein
- Azygos continuation of the inferior vena cava
- Azygos continuation of the IVC