List of Rare Diseases

A

AA amyloidosis
AAA syndrome
AADC deficiency
AAE
AAE 2
AAE II
Aagenaes syndrome
AAOCA
AAOR
AApoAI amyloidosis
AApoAII amyloidosis
AApoAIV amyloidosis
Aarskog-like syndrome
Aarskog-Scott syndrome
Aarskog syndrome
Aase-Smith II syndrome
Aase-Smith I syndrome
Aase-Smith syndrome
Aase syndrome
AAV
Abacavir toxicity
ABCB4-related cholelithiasis
Abdominal muscle deficiency syndrome
ABE
Aberfeld syndrome
ABeta2M amyloidosis
ABeta2Mwt amyloidosis
ABetaA21G amyloidosis
ABetaA21G-related amyloidosis
ABeta amyloidosis, Arctic type
ABeta amyloidosis, Dutch type
ABeta amyloidosis, Flemish type
ABeta amyloidosis, Iowa type
ABeta amyloidosis, Italian type
ABeta amyloidosis, Piedmont type
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
ABPA
ABri amyloidosis
Abruzzo-Erickson syndrome
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
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-arachnoid cyst syndrome
Absent tibia-polydactyly syndrome
ABSN
ACAD9 deficiency
ACADM deficiency
ACADS deficiency
Acalvaria
Acanthamoeba keratitis
Acanthokeratolytic verrucous nevus
Acanthoma of the nail matrix
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
ACAPA
Acatalasemia
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-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-addisonianism-alacrima syndrome
Achalasia cardia
Achalasia-microcephaly syndrome
Acheiria
Acheiropodia
Acheiropody
ACHM
Achondrogenesis
Achondrogenesis, Houston-Harris type
Achondrogenesis, Langer-Saldino type
Achondrogenesis, Parenti-Fraccaro type
Achondrogenesis type 1A
Achondrogenesis type 1B
Achondrogenesis type 2
Achondroplasia
Achondroplasia-SCID syndrome
Achondroplasia-severe combined immunodeficiency syndrome
Achondroplasia-Swiss type agammaglobulinemia syndrome
Achromatopsia
Acid beta-glucosidase deficiency
Acid ceramidase deficiency
Acinar cell carcinoma of pancreas
Acitretin/etretinate embryopathy
Ackerman dermatitis syndrome
Ackerman fused molar roots syndrome
Ackerman syndrome
ACNES
Aconitase deficiency
Acoustic neurilemoma
Acoustic neurinoma
Acoustic neuroma
ACPS2
ACPS4
Acquired adult-onset immunodeficiency
Acquired alimentary behavior disorder of infancy
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 C1INH
Acquired angioedema with normal C1 inhibitor
Acquired angioneurotic edema
Acquired angioneurotic edema type 1
Acquired angioneurotic edema type 2
Acquired angioneurotic edema with C1Inh deficiency
Acquired angioneurotic edema with C1 inhibitor deficiency
Acquired anterior horn cell disease
Acquired ataxia
Acquired bradykinine-induced angioedema
Acquired C1 inhibitor deficiency
Acquired CDI
Acquired central diabetes insipidus
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 embryofetopathy
Acquired epidermolysis bullosa
Acquired epileptic aphasia
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
Acquired hypertrichosis lanuginosa
Acquired hypoprothrombinemia
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 neuromyotonia
Acquired neutropenia
Acquired non histamine-induced angioedema
Acquired partial lipodystrophy
Acquired peripheral movement disorder
Acquired peripheral neuropathy
Acquired pituitary hormone deficiency
Acquired porencephaly
Acquired premature ovarian failure
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 deciduous skin
Acral dysostosis with facial and genital abnormalities
Acral dystrophic epidermolysis bullosa
Acral peeling skin syndrome
Acral persistent papular mucinosis
Acral PSS
Acral self-healing collodion baby
Acral SHCB
Acrocallosal syndrome
Acrocapitofemoral dysplasia
Acrocardiofacial syndrome
Acrocephalopolydactylous dysplasia
Acrocephalopolydactyly
Acrocephalopolysyndactyly type 2
Acrocephalopolysyndactyly type 4
Acrocephalosyndactylia
Acrocephalosyndactyly
Acrocephalosyndactyly type 1
Acrocephalosyndactyly type 3
Acrocephalosyndactyly type 5
Acrocephaly
Acrocraniofacial dysostosis
Acrodentoosteodysplasia
Acrodermatitis continua of Hallopeau
Acrodermatitis enteropathica
Acrodermatitis enteropathica, zinc deficiency type
Acro-dermato-ungual-lacrimal-tooth syndrome
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Acrodysplasia
Acrodysplasia scoliosis
Acrofacial dysostosis
Acrofacial dysostosis, Catania type
Acrofacial dysostosis, Genee-Wiedmann 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
Acromegaloid facial appearance syndrome
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
Acrometageria
Acromicric dysplasia
Acroosteolysis dominant type
Acroosteolysis-keloid-like lesions-premature aging syndrome
Acroosteolysis with osteoporosis and changes in skull and mandible
Acrootoocular syndrome
Acropectoral syndrome
Acropectorovertebral dysplasia
Acropigmentation of Dohi
Acrorenal defect-ectodermal dysplasia-diabetes syndrome
Acro-renal-mandibular syndrome
Acro-renal-ocular syndrome
Acrorenal syndrome
ACRP syndrome
ACS
ACS
ACS1
ACS3
ACS5
ACTH-dependent CS
ACTH-dependent Cushing syndrome
ACTH-independent Cushing syndrome
ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor
Actinic lichen planus
Actinic LP
Actinic prurigo
Actinic reticuloid
Actin myopathy
Actinomycosis
Action myoclonus-renal failure syndrome
Activated PI3K-delta syndrome
Activation-induced cytidine deaminase deficiency
Acute ackee fruit intoxication
Acute adrenal failure
Acute adrenal insufficiency
Acute adrenocortical insufficiency
Acute and disseminated Langerhans cell histiocytosis
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 disseminated encephalitis
Acute disseminated encephalomyelitis
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 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-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
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-multisystemic involvement syndrome
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 megakaryoblastic leukemia
Acute megakaryoblastic leukemia in Down syndrome
Acute megakaryoblastic leukemia without Down syndrome
Acute megakaryocytic leukemia
Acute monoblastic leukemia
Acute 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, minimal differentiation, FAB M0
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 myelomonocytic leukemia
Acute myelosclerosis
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 poisoning
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 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 respiratory coronavirus infection
Acute rheumatic fever
Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma
Acute sensory ataxic GBS
Acute sensory ataxic Guillain-Barré syndrome
Acute sensory ataxic neuropathy
Acute transverse myelitis
Acute tricyclic antidepressant poisoning
Acute tubulointerstitial nephritis and uveitis syndrome
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
Adactyly of hand, unilateral
ADA deficiency
Adair-Dighton syndrome
Adamantinoma
Adamantinoma of long bones
Adams-Oliver syndrome
ADan amyloidosis
ADANE
ADCA
ADCA1
ADCA2
ADCA3
ADCA4
ADCA-DN syndrome
ADCAI
ADCAII
ADCAIII
ADCAIV
ADCL
ADCME
AD-CNM
Addison disease
Addisonian crisis
AD dRTA
Adducted thumb-clubfoot syndrome
Adducted thumbs-arthrogryposis syndrome, Christian type
ADEAF
ADEM
Adenine phosphoribosyltransferase deficiency
Adenocarcinoma of ovary
Adenocarcinoma of the anal canal
Adenocarcinoma of the cervix uteri
Adenocarcinoma of the esophagus
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 paratestis
Adenocarcinoma of the penis
Adenocarcinoma of the small bowel
Adenocarcinoma of the small instestine
Adenocarcinoma of the vulva
Adenohypophysitis
Adenoid basal carcinoma of the cervix uteri
Adenoid cystic carcinoma of the cervix uteri
Adenoid cystic carcinoma of the corpus uteri
Adenoma of pancreas
Adenomucinosis
Adenosarcoma of the cervix uteri
Adenosarcoma of the corpus uteri
Adenosine monophosphate deaminase deficiency
Adenosylcobalamin deficiency
Adenovirus infection in immunocompromised patients
Adenylosuccinase deficiency
Adenylosuccinate lyase deficiency
Adenylosuccinate synthetase-like 1-related distal myopathy
AD-HED
Adhesive arachnoiditis
AD-HIES
ADHR
AD hypocalcemia
Adie syndrome
Adiposalgia
Adipose tissue rheumatism
Adiposis dolorosa
ADK hypermethioninemia
ADLD
ADLTE
ADNFLE
ADNIV
ADNP-related syndromic intellectual disability-autism spectrum disorder
ADNP syndrome
ADOA
Adolescent benign focal crisis
Adolescent-onset epilepsy syndrome
ADOS
ADPCLD
ADPEAF
adPEO
ADPKD
AD pRTA
Adrenal crisis
Adrenal Cushing syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Adrenal/paraganglial tumor
Adrenocortical carcinoma
Adrenocortical carcinoma with pure aldosterone hypersecretion
Adrenocortical crisis
Adrenocorticotropic hormone-dependent Cushing syndrome
Adrenocorticotropic hormone-independent Cushing syndrome
Adrenocorticotropic hormone secretion syndrome
Adrenogenital syndrome
Adrenomyeloneuropathy
Adrenomyodystrophy
ADSD
ADSL deficiency
AD-SPAX
AD-SPG9A
AD-SPG9B
ADSSL1-related distal myopathy
ADTKD
ADTKD-HNF1B
ADTKD-MUC1
ADTKD-REN
ADTKD-UMOD
Adult acute respiratory distress syndrome
Adult ARDS
Adult Bartter syndrome
Adult basal ganglia disease
Adult cardiac tumor
Adult chronic idiopathic neutropenia
Adult dermatomyositis
Adult familial nephronophthisis-spastic quadriparesia syndrome
Adult GM2 gangliosidosis 0 variant
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 NCL
Adult neuronal ceroid lipofuscinosis
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 1
Adult-onset citrullinemia type 2
Adult-onset citrullinemia type I
Adult-onset citrullinemia type II
Adult-onset CPEO with mitochondrial myopathy
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 nemaline myopathy
Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
Adult-onset overlap myositis
Adult-onset PLS
Adult-onset primary lateral sclerosis
Adult-onset Still disease
Adult-onset vitelliform macular dystrophy
Adult phosphoethanolaminuria
Adult polyglucosan body disease
Adult progeria
Adult pulmonary Langerhans cell histiocytosis
Adult pure red cell aplasia
Adult Rathburn disease
Adult Refsum disease
ADULT syndrome
Adult T-cell leukemia/lymphoma
ADVIRC
Adynamia episodica hereditaria
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
AFib amyloidosis
AFLP
AFND
AFP
African iron overload
African tick typhus
African trypanosomiasis
Agammaglobulinemia
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
Agammaglobulinemia, non-Bruton type
Aganglionic megacolon
AGAT deficiency
AGC1 deficiency
AGel amyloidosis
Agenesis and aplasia of uterine body
Agenesis of corpus callosum with chorioretinal abnormality
Agenesis of the superior caval vein
Agenesis of the superior vena cava
Agenesis of the SVC
AGEP
Aggrecan-related bone disorder
Aggressive B-cell NHL
Aggressive B-cell non-Hodgkin lymphoma
Aggressive fibromatosis
Aggressive NK-cell leukemia
Aggressive NK-cell lymphoma
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
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
AHA
AH amyloidosis
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 B factor anomaly
aHUS with C3 anomaly
aHUS with complement gene abnormality
aHUS with H factor anomaly
aHUS with I factor anomaly
aHUS with MCP/CD46 anomaly
aHUS with neutralizing autoantibodies against factor H
aHUS with thrombomodulin anomaly
Aicardi-Goutières syndrome
Aicardi syndrome
AICA-ribosiduria
AID deficiency
AIDP
AIDS wasting syndrome
AIED
AIEF
AIHA
AILT
AIP
AIP type 1
AIP type 2
AIS
AISA
AK2 deficiency
AKE
AKT2-related familial partial lipodystrophy
AKT2-related FPLD
AKV of Hopf
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
AL amyloidosis
Åland Islands eye disease
Alar cartilages hypoplasia-coloboma-telecanthus syndrome
Alar cleft
Alar rim cleft
Al Awadi-Farag-Teebi syndrome
Al Awadi-Raas-Rothschild syndrome
Alazami syndrome
Albers-Schönberg osteopetrosis
Albinism-deafness syndrome
Albright hereditary osteodystrophy-like syndrome
Albright hereditary osteodystrophy-PHP syndrome Ia
Albright hereditary osteodystrophy-PPHP syndrome
Albright hereditary osteodystrophy type 3
ALCL
Alcock syndrome
Alcohol-related birth defects
Alcohol-related neurodevelopmental disorder
Alcohol-responsive dystonia
ALD
ALDD syndrome
ALDH18A1-related De Barsy syndrome
Aldred syndrome
ALECT2 amyloidosis
Aleukemic mast cell leukemia
Alexander disease
Alexander disease type I
Alexander disease type II
Alfi syndrome
ALG11-CDG
ALG12-CDG
ALG13-CDG
ALG1-CDG
ALG2-CDG
ALG3-CDG
ALG6-CDG
ALG8-CDG
ALG9-CDG
Al Gazali-Al Talabani syndrome
Al Gazali-Aziz-Salem syndrome
Al Gazali-Donnai-Muller syndrome
Al Gazali-Lytle syndrome
Al Gazali-Nair syndrome
Algodystrophy
ALK+ ALCL
ALK- ALCL
Alkaline ceramidase 3 deficiency
ALK+ anaplastic large cell lymphoma
ALK- anaplastic large cell lymphoma
Alkaptonuria
ALK+ large B-cell lymphoma
ALK+ LBCL
ALK-negative anaplastic large cell lymphoma
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
ALL
Allan-Herndon-Dudley syndrome
Allergic aspergillosis
Allergic bronchopulmonary aspergillosis
Allgrove syndrome
Alloimmune neonatal renal disease
Allopurinol toxicity
Allosome anomaly
Allosome number anomaly
Allosome structural anomaly
Alobar holoprosencephaly
Alopecia
Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome
Alopecia-anosmia-deafness-hypogonadism syndrome
Alopecia antibody deficiency
Alopecia-contractures-dwarfism-intellectual disability syndrome
Alopecia-deafness-hypogonadism syndrome
Alopecia-epilepsy-intellectual disability syndrome, Moynahan type
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
Alopecia-intellectual disability syndrome
Alopecia-progressive neurological defect-endocrinopathy syndrome
Alopecia-sensorineural deafness-hypogonadism syndrome
Alopecia totalis
Alopecia universalis
Alpers-Huttenlocher syndrome
Alpers progressive sclerosing poliodystrophy
Alpers syndrome
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-aminoadipic aciduria
Alpha-B crystallin-related late-onset distal myopathy
Alpha-B crystallin-related late-onset myopathy
Alpha-crystallinopathy
Alpha delta granule deficiency
Alpha dense granule deficiency
Alpha-dystroglycanopathy
Alpha-galactosidase A deficiency
Alpha granule disease
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 methylacetoacetic aciduria
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-sarcoglycanopathy
Alpha storage pool deficiency
Alpha-thalassemia
Alpha-thalassemia and related diseases
Alpha-thalassemia hydrops fetalis
Alpha thalassemia-intellectual disability syndrome, deletion type
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Alpha-thalassemia intermedia
Alpha-thalassemia major
Alpha-thalassemia-myelodysplastic syndrome
Alpha-thalassemia-related diseases
Alpha-thalassemia-X-linked intellectual disability syndrome
Alport deafness-nephropathy
Alport syndrome
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
ALPS
ALPS due to CTLA4 haploinsuffiency
ALPS with recurrent viral infections
ALS
ALS4
ALSG
ALSP
Alström syndrome
ALT
Alternating hemiplegia
Alternating hemiplegia of childhood
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
AMACR deficiency
AMAN
Amaurosis congenita of Leber
Amaurosis-hypertrichosis syndrome
Ambras syndrome
AMC
Amelia
Amelia of lower limb
Amelia of upper limb
Ameloblastic carcinoma
Ameloblastoma
Amelocerebrohypohidrotic syndrome
Amelogenesis imperfecta
Amelogenesis imperfecta-nephrocalcinosis syndrome
Amelogenesis imperfecta type 1
Amelogenesis imperfecta type 2
Amelogenesis imperfecta type 3
Amelogenesis imperfecta type 4
Ameloonychohypohidrotic ectodermal dysplasia
Ameloonychohypohidrotic syndrome
American mountain fever
American trypanosomiasis
Amino acid or protein metabolism disease with epilepsy
Aminoaciduria, Hartnup type
Aminoacylase 2 deficiency
Aminoacylase deficiency
Aminopterin embryopathy syndrome
Aminopterin/methotrexate embryofetopathy
Aminopterin syndrome-like sine aminopterin
Amish infantile epilepsy syndrome
Amish lethal microcephaly
Amish nemaline myopathy
AMKL
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 with 11q23 abnormalities
AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
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)
AMME complex
AMME syndrome
AMMoL
Amniotic band sequence
Amniotic band syndrome
AMNR
aMOA
Amoebiasis due to Entamoeba histolytica
Amoebiasis due to free-living amoebae
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
Amyoplasia congenita
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome
Amyotrophic lateral sclerosis type 4
Amyotrophy-fat tissue anomaly syndrome
Anal fistula
Analphalipoproteinemia
Anaphylactoid purpura
Anaplastic astrocytoma
Anaplastic ependymoma
Anaplastic ganglioglioma
Anaplastic large cell lymphoma
Anaplastic/large cell medulloblastoma
Anaplastic oligoastrocytoma
Anaplastic oligodendroglioma
Anaplastic thyroid carcinoma
Anauxetic dysplasia
ANCA-associated vasculitis
ANCL
Ancylostomiasis
Andermann syndrome
Andersen disease
Andersen syndrome
Andersen-Tawil syndrome
Anderson disease
Anderson-Fabry disease
Androblastoma
Androgenetic/biparental mosaicism
Androgen insensitivity syndrome
Androgen resistance syndrome
ANEC
ANE syndrome
Aneurysmal bone cyst
Aneurysmal telangiectasia
Aneurysm of sinus of Valsalva
Aneurysm or dilatation of ascending aorta
Aneurysm-osteoarthritis syndrome
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
Angel-shaped phalango-epiphyseal dysplasia
Angiocentric cutaneous T-cell lymphoma of childhood
Angiocentric glioma
Angiocentric T-cell lymphoma
Angiodysgenetic necrotizing myelopathy
Angioendotheliomatosis proliferans systemisata
Angiofollicular ganglionic hyperplasia
Angiofollicular lymph hyperplasia
Angioimmunoblastic T-cell lymphoma
Angiokeratoma corporis diffusum
Angioma serpiginosum
Angioneurotic edema
Angioosteohypertrophic syndrome
Angioosteohypotrophic syndrome
Angiosarcoma
Angiostrongyliasis
Angiotropic large cell lymphoma
Angora hair nevus
ANGPT1-related HAE with normal C1 inhibitor
ANGPT1-related hereditary angioedema with normal C1Inh
Anguilluliasis
Anguillulosis
Anhidrotic ectodermal dysplasia
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Anhidrotic ectodermal dysplasia with immunodeficiency
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
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Ankyloblepharon filiforme adnatum-imperforate anus 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
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 chromosome 1
Anomaly of chromosome 10
Anomaly of chromosome 11
Anomaly of chromosome 12
Anomaly of chromosome 13
Anomaly of chromosome 14
Anomaly of chromosome 15
Anomaly of chromosome 16
Anomaly of chromosome 17
Anomaly of chromosome 18
Anomaly of chromosome 19
Anomaly of chromosome 2
Anomaly of chromosome 20
Anomaly of chromosome 21
Anomaly of chromosome 22
Anomaly of chromosome 3
Anomaly of chromosome 4
Anomaly of chromosome 5
Anomaly of chromosome 6
Anomaly of chromosome 7
Anomaly of chromosome 8
Anomaly of chromosome 9
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 mitral subvalvular apparatus
Anomaly of the tricuspid subvalvular apparatus
Anonychia congenita totalis
Anonychia-microcephaly syndrome
Anonychia-onychodystrophy syndrome
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome
Anonychia with flexural pigmentation
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
Anophthalmia/microphthalmia-esophageal atresia syndrome
Anophthalmia-microphthalmia syndrome
Anophthalmia plus syndrome
Anophthalmia-pulmonary hypoplasia syndrome
Anophthalmia-syndactyly syndrome
Anorectal malformation
ANOTHER syndrome
Anotia
Antecubital pterygium syndrome
Antenatal Bartter 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 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 manifestation
Anterior segment dysgenesis
Anterior urethral valve
Anterior uveitis
Anthracycline extravasation
Anti-C1q vasculitis
Antidepressant or antipsychotic toxicity or dose selection
Anti-GBM syndrome
Anti-glomerular basement membrane disease
Anti-HLA hyperimmunization
Anti-HMG-CoA myopathy
Anti-IgLON5 disease
Anti-IgLON5 syndrome
Anti-Jo1 syndrome
Anti-K HDN
Anti-MAG neuropathy
Antineutrophil cytoplasmic antibody-associated vasculitis
Anti-neutrophil cytoplasmic antibody-associated vasculitis
Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis
Antinolo-Nieto-Borrego syndrome
Anti-p200 pemphigoid
Antiquitin deficiency
Anti-SRP myopathy
Antisynthetase syndrome
Antley-Bixler syndrome
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
AP4 deficiency syndrome
aPAP
APBD
APC-related AFAP
APC-related attenuated familial adenomatous polyposis
APC-related attenuated familial polyposis coli
APC-related attenuated FAP
APDS
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-epibulbar dermoids syndrome
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Aplasia cutis congenita-nevus sebaceus syndrome
Aplasia cutis-myopia syndrome
Aplasia/hypoplasia of limbs and pelvis
Aplasia of lacrimal and salivary glands
Aplasia of the Müllerian ducts
Aplasia of tibia with split-hand/split-foot deformity
Aplastic anemia
APML
Apnea of infancy
Apnea of prematurity
ApoA-I deficiency
Apodia
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
Apple peel syndrome
Aprosencephaly cerebellar dysgenesis
APRT deficiency
APS
APS1
APS2
APS3
APS4
APS type 1
APS type 2
APS type 3
APS type 4
APV/ADA, Fallot type
APV/PDA, non-Fallot type
Aquagenic keratoderma
Aquagenic palmoplantar keratoderma
Aquagenic syringeal acrokeratoderma
Aquagenic wrinkling of the palms
Arachnodactyly-abnormal ossification-intellectual disability syndrome
Arachnodactyly-intellectual disability-dysmorphism syndrome
Arachnoid cyst
Arachnoiditis
ARAN-NM
ARBD
Arbovirus fever
ARCA
ARCA1
ARCA2
ARCI
ARCL1
ARCL1C
ARCL2
ARCL2A
ARCL2B
ARCL2, classic type
ARCL2, Debré type
ARCL2, progeroid type
AR-CMT1
AR-CMT2
AR-CMT2B1
AR-CMT2B2
AR-CMT2B5
AR-CMT2C
ARCMT2K
ARCMT2-NM
AR-CMT2, Ouvrier type
AR-CMT2T
AR-CMT2 with acrodystrophy
ARCMT2X
AR-CNM
ARC syndrome
AR dRTA
AREDYLD syndrome
Aregenerative anemia
AREI
Areolar atrophy of the macula
Argentine hemorrhagic fever
Argentinian hemorrhagic fever
Arginase deficiency
Argininemia
Argininosuccinase deficiency
Argininosuccinatelyase deficiency
Argininosuccinate synthase deficiency
Argininosuccinate synthetase deficiency
Argininosuccinic acid lyase deficiency
Argininosuccinic acid synthase deficiency
Argininosuccinic acid synthetase deficiency
Argininosuccinic aciduria
Argyria
AR-HED
ARHR
Arias syndrome
Arima syndrome
Arkless-Graham syndrome
Armfield syndrome
ARND
Arndt-Gottron disease
Arnold-Chiari malformation type 1
Arnold-Chiari malformation type 2
Arnold-Chiari malformation type I
Arnold-Chiari malformation type II
AR-NSID
Aromatase deficiency
Aromatase excess syndrome
Aromatic L-amino acid decarboxylase deficiency
arPEO
AR-PKD
AR pRTA
Arrhenoblastoma
Arrhinia-choanal atresia-microphthalmia syndrome
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular dysplasia
ARSA
ARSACS
ARSAL
ARSB deficiency
AR-SPAX
AR-SPG9B
Arterial cervical rib syndrome
Arterial costoclavicular syndrome
Arterial dissection-lentiginosis syndrome
Arterial duct anomaly
Arterial-ecchymotic EDS
Arterial hyperabduction syndrome
Arterial scalenus anticus syndrome
Arterial thoracic outlet compression syndrome
Arterial thoracic outlet syndrome
Arterial tortuosity syndrome
Arterial TOS
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 mandible
Arteriovenous malformation of maxilla
Arthritis urethritica
Arthrochalasia Ehlers-Danlos syndrome
Arthrochalasis multiplex congenita
Arthrodentoosteodysplasia
Arthrogryposis-ectodermal dysplasia syndrome
Arthrogryposis-hyperkeratosis syndrome, lethal form
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Arthrogryposis-like syndrome
Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
Arthrogryposis multiplex congenita-whistling face syndrome
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Arthrogryposis-renal dysfunction-cholestasis syndrome
Arthrogryposis-severe scoliosis syndrome
Arthrogryposis syndrome
Arthropathy-camptodactyly syndrome
Arts syndrome
ARVC
ARVD
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
ASA deficiency
ASAN
ASB deficiency
Asbestos intoxication
Asbestosis
Ascending aorta anomaly
Ascher syndrome
ASCT1 deficiency
ASD
ASD, coronary sinus type
ASD due to AUTS2 deficiency
ASD, ostium primum type
ASD, ostium secundum type
ASD, sinus venosus type
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
Asparagine synthetase deficiency
Aspartoacylase deficiency
Aspartylglucosaminidase deficiency
Aspartylglucosaminuria
ASPED
Aspergillosis
Asphyxiating thoracic dystrophy of the newborn
ASPS
ASSA
ASS deficiency
AS syndrome
Astley-Kendall dysplasia
Astroblastoma
Astrocytic tumor
Astrocytoma
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 neuropathy spectrum
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-like disorder
Ataxia-telangiectasia variant
Ataxia-telangiectasia, variant 1
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
Ataxie spinocérébelleuse à début infantile avec retard psychomoteur
Ataxo-opso-myoclonus syndrome
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
Athyreosis
Athyroidal hypothyroidism-spiky hair-cleft palate syndrome
ATIC deficiency
Atkin-Flaitz syndrome
ATLD
ATLL
ATMDS
ATM/TM
Atopic keratoconjunctivitis
ATOS
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
ATP13A2-related parkinsonism
ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2
ATP1A1-related CMT2
ATP7A-related distal motor neuropathy
ATP-binding cassette transporter A1 deficiency
ATR-16 syndrome
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-atrioventricular conduction defects syndrome
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 standstill
Atrial tachyarrhythmia with short PR interval
Atrichia with papular lesions
Atriodigital dysplasia
Atriodigital dysplasia, Slovenian type
Atriodigital dysplasia type 1
Atriodigital dysplasia type 2
Atriodigital dysplasia type 3
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
Atrophoderma vermiculata
ATR syndrome, deletion type
ATR syndrome linked to chromosome 16
ATRT
ATRUS syndrome
ATR-X-related syndrome
ATR-X syndrome
ATS
ATS-MR
Attenuated Chédiak-Higashi syndrome
Attenuated familial adenomatous polyposis
Attenuated familial polyposis coli
Attenuated FAP
ATTR cardiomyopathy
ATTRV122I amyloidosis
ATTRV122I-related amyloidosis
ATTRV30M amyloidosis
ATTRV30M-related amyloidosis
ATTRwt amyloidosis
ATTRwt-related amyloidosis
AT V1
Atypical autism
Atypical Chédiak-Higashi syndrome
Atypical choroid plexus papilloma
Atypical chronic myeloid leukemia
Atypical coarctation of aorta
Atypical CPP
Atypical Demons-Meigs syndrome
Atypical dentin dysplasia due to SMOC2 deficiency
Atypical facial pain
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
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 B factor anomaly
Atypical hemolytic uremic syndrome with C3 anomaly
Atypical hemolytic uremic syndrome with complement gene abnormality
Atypical hemolytic uremic syndrome with H factor anomaly
Atypical hemolytic uremic syndrome with I factor anomaly
Atypical hemolytic uremic syndrome with MCP/CD46 anomaly
Atypical hemolytic uremic syndrome with thrombomodulin anomaly
Atypical HUS
Atypical HUS with anti-factor H antibodies
Atypical HUS with B factor anomaly
Atypical HUS with C3 anomaly
Atypical HUS with H factor anomaly
Atypical HUS with I factor anomaly
Atypical HUS with MCP/CD46 anomaly
Atypical HUS with thrombomodulin anomaly
Atypical hypotonia-cystinuria syndrome
Atypical juvenile parkinsonism
Atypical lichen myxedematosus
Atypical lipoma
Atypical lipomatous tumor
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 tuberous myxedema of Jadassohn-Dosseker
Atypical Werner syndrome
Atypical X-linked achromatopsia
Audiogenic seizures
Auditory neuropathy-optic atrophy syndrome
Aughton-Hufnagle syndrome
Au-Kline syndrome
Aural atresia-multiple congenital anomalies-intellectual disability syndrome
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
Auriculocondylar syndrome
Auriculoosteodysplasia
Ausems-Wittebol Post-Hennekam syndrome
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Autism-facial port-wine stain syndrome
Autism spectrum disorder due to AUTS2 deficiency
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Autoerythrocyte sensitization syndrome
Autoimmune Addison disease
Autoimmune adrenalitis
Autoimmune bullous skin disease
Autoimmune disease with skin involvement
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
Autoimmune enteropathy
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Autoimmune enteropathy type 1
Autoimmune hemolytic anemia
Autoimmune hemolytic anemia and autoimmune thrombocytopenia
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
Autoimmune hemolytic anemia, cold type
Autoimmune hemolytic anemia, warm type
Autoimmune hepatitis
Autoimmune hypoparathyroidism
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
Autoimmune hypophysitis
Autoimmune/inflammatory optic neuropathy
Autoimmune interstitial lung disease-arthritis syndrome
Autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Autoimmune lymphoproliferative syndrome with recurrent viral infections
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-candidiasis-ectodermal dystrophy syndrome
Autoimmune polyendocrinopathy type 1
Autoimmune polyendocrinopathy type 2
Autoimmune polyendocrinopathy type 3
Autoimmune polyendocrinopathy type 4
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
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 immune deficiency
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Autoinflammatory syndrome with skin involvement
Autosomal agammaglobulinemia
Autosomal anomaly
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-deafness-narcolepsy syndrome
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 Charcot-Marie-Tooth disease type 2
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 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 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 2 with giant axons
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant CHED
Autosomal dominant childhood-onset proximal spinal muscular atrophy
Autosomal dominant coarctation of aorta
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 congenital hereditary endothelial dystrophy
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 diffuse palmoplantar keratoderma, Norrbotten type
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 dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types
Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome
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 gingival fibromatosis
Autosomal dominant gingival hyperplasia
Autosomal dominant hereditary axonal motor and sensory neuropathy
Autosomal dominant hereditary demyelinating motor and sensory neuropathy
Autosomal dominant hereditary hemochromatosis
Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons
Autosomal dominant hereditary sensory and autonomic neuropathy
Autosomal dominant HIES
Autosomal dominant hyper-IgE syndrome
Autosomal dominant hyperimmunoglobulin E syndrome
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 anomalies-cardiac defects syndrome
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 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 1B
Autosomal dominant limb-girdle muscular dystrophy type 1C
Autosomal dominant limb-girdle muscular dystrophy type 1D
Autosomal dominant limb-girdle muscular dystrophy type 1E
Autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal dominant limb-girdle muscular dystrophy type 1G
Autosomal dominant limb-girdle muscular dystrophy type 1H
Autosomal dominant macrothrombocytopenia
Autosomal dominant medullary cystic kidney disease
Autosomal dominant medullary cystic kidney disease type 2
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 hearing loss-rhizomelic dysplasia syndrome
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 deafness type DFNA
Autosomal dominant non-syndromic sensorineural hearing loss type DFNA
Autosomal dominant omodysplasia
Autosomal dominant Opitz BBB/G syndrome
Autosomal dominant Opitz G/BBB syndrome
Autosomal dominant Opitz syndrome
Autosomal dominant optic atrophy
Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy and peripheral neuropathy
Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Autosomal dominant optic atrophy plus syndrome
Autosomal dominant optic atrophy type 3
Autosomal dominant osteopetrosis type 1
Autosomal dominant osteosclerosis, Stanescu type
Autosomal dominant osteosclerosis, Worth type
Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
Autosomal dominant palmoplantar keratoderma and congenital alopecia
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 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 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 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
Autosomal recessive Alport syndrome
Autosomal recessive amelia
Autosomal recessive anhidrotic ectodermal dysplasia
Autosomal recessive anterior segment dysgenesis
Autosomal recessive aplasia cutis
Autosomal recessive ataxia, Beauce type
Autosomal recessive ataxia due to coenzyme Q10 deficiency
Autosomal recessive ataxia due to PEX10 deficiency
Autosomal recessive ataxia due to ubiquinone deficiency
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 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-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-psychomotor delay syndrome
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
Autosomal recessive cerebellar ataxia type 1
Autosomal recessive cerebellar ataxia type 2
Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive cerebelloparenchymal disorder type 3
Autosomal recessive cerebral atrophy
Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type
Autosomal recessive Charcot-Marie-Tooth disease type 2B1
Autosomal recessive Charcot-Marie-Tooth disease type 2B5
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 2X
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy
Autosomal recessive CHED
Autosomal recessive childhood-onset dystonia, DYT29 type
Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome
Autosomal recessive chorioretinopathy-microcephaly syndrome
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, pulmonary emphysema type
Autosomal recessive cutis laxa type 1
Autosomal recessive cutis laxa type 1C
Autosomal recessive cutis laxa type 2
Autosomal recessive cutis laxa type 2A
Autosomal recessive cutis laxa type 2B
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 with severe systemic involvement
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, generalized other
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Autosomal recessive Emery-Dreifuss muscular dystrophy
Autosomal recessive epidermolytic ichthyosis
Autosomal recessive exfoliative ichthyosis
Autosomal recessive faciodigitogenital syndrome
Autosomal recessive frontotemporal pachygyria
Autosomal recessive hereditary demyelinating motor and sensory neuropathy
Autosomal recessive hereditary sensory and autonomic neuropathy
Autosomal recessive hyper-IgE syndrome due to TYK2 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 optic atrophy
Autosomal recessive isolated sensorineural deafness 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 limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
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 2R
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 2W
Autosomal recessive limb-girdle muscular dystrophy type 2X
Autosomal recessive limb-girdle muscular dystrophy type 2Y
Autosomal recessive limb-girdle muscular dystrophy type 2Z
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 complete RORgamma receptor 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 complete RORgamma receptor defiency
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 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 optic atrophy
Autosomal recessive non-syndromic sensorineural deafness type DFNB
Autosomal recessive omodysplasia
Autosomal recessive optic atrophy, OPA7 type
Autosomal recessive optic atrophy plus syndrome
Autosomal recessive optic atrophy type 3
Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
Autosomal recessive osteopetrosis type 7
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Autosomal recessive polycystic kidney disease
Autosomal recessive popliteal pterygium syndrome
Autosomal recessive posterior column ataxia and retinitis pigmentosa
Autosomal recessive primary immunodeficiency due to RORC mutation
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, non-Chuvash type
Autosomal recessive secondary erythrocytosis not associated with VHL gene
Autosomal recessive secondary polycythemia, non-Chuvash type
Autosomal recessive secondary polycythemia not associated with VHL gene
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 severe congenital neutropenia due to G6PC3 deficiency
Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
Autosomal recessive sideroblastic anemia
Autosomal recessive spastic ataxia
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
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 paraplegia-disc herniation syndrome
Autosomal recessive spastic paraplegia type 11
Autosomal recessive spastic paraplegia type 14
Autosomal recessive spastic paraplegia type 15
Autosomal recessive spastic paraplegia type 18
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 68
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 9B
Autosomal recessive spinal muscular atrophy with respiratory distress
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
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 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 30
Autosomal spastic paraplegia type 58
Autosomal spastic paraplegia type 72
Autosomal systemic lupus erythematosus
Autosomal thrombocytopenia with normal platelets
Autosomal trisomy
Autosomal uniparental disomy
AUTS2 syndrome
Avascular necrosis
Avascular necrosis of genetic origin
AVED
Avellino corneal dystrophy
Avian influenza
AVMD
AVN
AVSD
AxD
AxD type I
AxD type II
Axenfeld anomaly
Axenfeld-Rieger syndrome
Axenfeld 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
Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy
Ayazi syndrome
Aymé-Gripp syndrome
Azathioprine or 6-mercatopurine toxicity or dose selection
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

No items found.