Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.
A 2/4
- ACRP syndrome - See Acropectoral syndrome
- ACRPS - See Acropectoral syndrome
- ACRPV - See Acropectorovertebral dysplasia F form
- ACS - See Acrocallosal syndrome, Schinzel type
- ACS 1 - See Apert syndrome
- ACS 3 - See Saethre-Chotzen syndrome
- ACS3 - See Saethre-Chotzen syndrome
- ACS5 - See Pfeiffer syndrome
- ACSL4-related intellectual disability
- ACSV - See Pfeiffer syndrome
- ACTG2-related disorders
- ACTH deficiency, isolated - See Isolated ACTH deficiency
- ACTH resistance - See Familial glucocorticoid deficiency
- ACTH-independent macronodular adrenal hyperplasia
- ACTH-independent macronodular adrenocortical hyperplasia - See ACTH-independent macronodular adrenal hyperplasia
- ACTH-secreting pituitary adenoma
- Actinic cheilitis
- Actinic cheilosis - See Actinic cheilitis
- Actinic lichen planus
- Actinic LP - See Actinic lichen planus
- Actinomyces israeli - See Actinomycosis
- Actinomycetes - See Actinomycosis
- Actinomycosis
- Activated PI3K-delta syndrome - See PASLI disease
- ACUG - See Blau syndrome
- Acutane embryopathy - See Fetal retinoid syndrome
- Acute alcohol sensitivity
- Acute articular rheumatism
- Acute autoimmune peripheral neuropathy - See Guillain-Barre syndrome
- Acute Berylliosis - See Beryllium disease
- Acute biphenotypic leukemia - See Acute leukemia of ambiguous lineage
- Acute brachial neuritis - See Parsonage Turner syndrome
- Acute brachial neuritis syndrome - See Parsonage Turner syndrome
- Acute brachial radiculitis syndrome - See Parsonage Turner syndrome
- Acute cerebral Gaucher disease - See Gaucher disease
- Acute cholinergic dysautonomia
- Acute colonic ileus - See Ogilvie syndrome
- Acute colonic pseudo-obstruction - See Ogilvie syndrome
- Acute disseminated encephalomyelitis
- Acute encephalitis with refractory repetitive partial seizures - See Febrile infection-related epilepsy syndrome
- Acute erythroid leukemia
- Acute erythroleukemia - See Acute erythroid leukemia
- Acute erythroleukemia M6a subtype - See Acute erythroid leukemia
- Acute erythroleukemia M6b subtype - See Acute erythroid leukemia
- Acute fatty liver of pregnancy
- Acute fatty liver, gestational - See Acute fatty liver of pregnancy
- Acute febrile neutrophilic dermatosis
- Acute flaccid myelitis
- Acute graft versus host disease
- Acute GVHD - See Acute graft versus host disease
- Acute hemorrhagic leukoencephalitis
- Acute immune-mediated polyneuropathy - See Guillain-Barre syndrome
- Acute infantile liver failure - See Transient infantile liver failure
- Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins - See Transient infantile liver failure
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins - See Transient infantile liver failure
- Acute infantile liver failure-multisystemic involvement syndrome - See Infantile liver failure syndrome 1
- Acute inflammatory demyelinating polyneuropathy - See Guillain-Barre syndrome
- Acute inflammatory demyelinating polyradiculoneuropathy - See Guillain-Barre syndrome
- Acute inflammatory neuropathy - See Guillain-Barre syndrome
- Acute inflammatory polyneuropathy - See Guillain-Barre syndrome
- Acute intermittent porphyria
- Acute interstitial pneumonia
- Acute interstitial pneumonitis - See Acute interstitial pneumonia
- Acute leukemia of ambiguous lineage - See Acute leukemia of ambiguous lineage
- Acute leukemia of ambiguous lineage
- Acute leukemia of indeterminate lineage - See Acute leukemia of ambiguous lineage
- Acute leukemia of undetermined lineage - See Acute leukemia of ambiguous lineage
- Acute lipodermatosclerosis - See Lipodermatosclerosis
- Acute lung injury - See Acute respiratory distress syndrome
- Acute lymphoblastic leukemia
- Acute lymphoblastic leukemia congenital sporadic aniridia
- Acute lymphocytic leukemia - See Acute lymphoblastic leukemia
- Acute Marchiafava-Bignami disease - See Marchiafava Bignami disease
- Acute megakaryoblastic leukemia
- Acute megakaryocytic leukemia - See Acute megakaryoblastic leukemia
- Acute membranous gingivitis - See Acute necrotizing ulcerative gingivitis
- Acute monoblastic leukemia
- Acute monocytic leukemia - See Acute monoblastic leukemia
- Acute mountain sickness
- Acute multifocal placoid pigment epitheliopathy - See Acute posterior multifocal placoid pigment epitheliopathy
- Acute myeloblastic leukemia 3 - See Acute promyelocytic leukemia
- Acute myeloblastic leukemia M1 - See Acute myeloblastic leukemia without maturation
- Acute myeloblastic leukemia M2 - See Acute myeloblastic leukemia with maturation
- Acute myeloblastic leukemia type 1 - See Acute myeloblastic leukemia without maturation
- Acute myeloblastic leukemia type 2 - See Acute myeloblastic leukemia with maturation
- Acute myeloblastic leukemia type 3 - See Acute promyelocytic leukemia
- Acute myeloblastic leukemia type 4 - See Acute myelomonocytic leukemia
- Acute myeloblastic leukemia type 5 - See Acute monoblastic leukemia
- Acute myeloblastic leukemia type 7 - See Acute megakaryoblastic leukemia
- Acute myeloblastic leukemia with maturation
- Acute myeloblastic leukemia without maturation
- Acute myelodysplasia with myelofibrosis - See Acute panmyelosis with myelofibrosis
- Acute myelofibrosis - See Acute panmyelosis with myelofibrosis
- Acute myelogenous leukemia - See Acute myeloid leukemia
- Acute myeloid leukaemia with myelodysplasia-related features - See AML with myelodysplasia-related features
- Acute myeloid leukemia
- Acute myeloid leukemia FAB-M6 - See Acute erythroid leukemia
- Acute myeloid leukemia M6 - See Acute erythroid leukemia
- Acute myeloid leukemia M7 - See Acute megakaryoblastic leukemia
- Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
- Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
- Acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2) - See Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
- Acute myeloid leukemia with multilineage dysplasia - See AML with myelodysplasia-related features
- Acute myeloid leukemia with recurrent genetic anomaly
- Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants - See Acute promyelocytic leukemia
- Acute myelomonocytic leukemia
- Acute myelomonocytic leukemia - See Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
- Acute myelosclerosis - See Acute panmyelosis with myelofibrosis
- Acute necrotizing encephalitis - See Acute necrotizing encephalopathy
- Acute necrotizing encephalopathy
- Acute necrotizing encephalopathy type 1 - See Infection-induced acute encephalopathy 3
- Acute necrotizing ulcerative gingivitis
- Acute non lymphoblastic leukemia
- Acute non-herpetic encephalitis with severe refractory status epilepticus - See Febrile infection-related epilepsy syndrome
- Acute panmyelosis with myelofibrosis
- Acute placoid pigment epitheliopathy - See Acute posterior multifocal placoid pigment epitheliopathy
- Acute posterior multifocal placoid pigment epitheliopathy
- Acute promyelocytic leukemia
- Acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells') - See Hemolytic uremic syndrome
- Acute respiratory distress syndrome
- Acute Rheumatic Fever - See Rheumatic Fever
- Acute rheumatism - See Acute articular rheumatism
- Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma - See Sudden sensorineural hearing loss
- Acute shoulder neuritis - See Parsonage Turner syndrome
- Acute silicosis - See Silicosis
- Acute stress cardiomyopathy - See Broken heart syndrome
- Acute zonal occult outer retinopathy
- ACV - See Spinocerebellar ataxia 29
- ACY1 deficiency - See Aminoacylase 1 deficiency
- ACY1D - See Aminoacylase 1 deficiency
- ACY2 deficiency - See Canavan disease
- Acyl-CoA dehydrogenase medium chain deficiency of - See Medium-chain acyl-coenzyme A dehydrogenase deficiency
- Acyl-CoaA dehydrogenase family, member 8, deficiency of - See Isobutyryl-CoA dehydrogenase deficiency
- AD hyperimmunoglobulin E syndrome - See Autosomal dominant hyper IgE syndrome
- AD1 - See Early-onset, autosomal dominant Alzheimer disease
- AD2 - See Late-Onset Familial Alzheimer Disease
- AD3 - See Early-onset, autosomal dominant Alzheimer disease
- AD4 - See Early-onset, autosomal dominant Alzheimer disease
- ADA deficiency - See Adenosine deaminase deficiency
- ADA2 deficiency - See Adenosine Deaminase 2 deficiency
- Adactylia unilateral
- Adair-Dighton syndrome - See Osteogenesis imperfecta type I
- Adamantinoma - See Craniopharyngioma
- Adamantinomatous tumor - See Craniopharyngioma
- Adams Oliver syndrome - See Adams-Oliver syndrome
- Adams-Oliver syndrome
- ADANE - See Infection-induced acute encephalopathy 3
- ADA-SCID - See Adenosine deaminase deficiency
- ADC - See AIDS Dementia Complex
- ADCA - See Autosomal dominant cerebellar ataxia
- ADCA, TYPE II - See Spinocerebellar ataxia 7
- ADCADN - See Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
- ADCA-DN - See Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
- ADCA-DN syndrome - See Autosomal dominant cerebellar ataxia, deafness, and narcolepsy
- ADCL - See Cutis laxa, autosomal dominant
- AD-CNM - See Autosomal dominant centronuclear myopathy
- ADCY5-related dyskinesia
- Addison disease - See Addison's disease
- Addison-Biermer anemia - See Pernicious anemia - not a rare disease
- Addisonian achalasia syndrome - See Triple A syndrome
- Addisonian anemia - See Pernicious anemia - not a rare disease
- Addison's disease
- Adducted thumb clubfoot syndrome - See Musculocontractural Ehlers-Danlos syndrome
- Adducted thumb with mental retardation - See Spastic paraplegia 1
- Adducted thumb-club foot syndrome - See Adducted thumbs Dundar type
- Adducted thumbs Dundar type
- Adducted thumbs syndrome - See Clasped thumbs, congenital
- Adductor spasmodic dysphonia (type) - See Spasmodic dysphonia
- ADE - See Acute disseminated encephalomyelitis
- ADEM - See Acute disseminated encephalomyelitis
- Adenine phosphoribosyltransferase deficiency
- Adenitis, salivary gland - See Sialadenitis
- Adenoameloblastoma - See Ameloblastoma
- Adenocarcinoid tumor
- Adenocarcinoma of Kidney - See Renal cell carcinoma
- Adenocarcinoma of Small Bowel - See Small Intestinal Adenocarcinoma
- Adenocarcinoma of small instestine - See Small Intestinal Adenocarcinoma
- Adenocarcinoma of the appendix
- Adenocarcinoma of the small bowel - See Small Intestinal Adenocarcinoma
- Adenocarcinoma of the small instestine - See Small Intestinal Adenocarcinoma
- Adenocarcinoma of the urachus - See Urachal adenocarcinoma
- Adenocystic carcinoma - See Adenoid cystic carcinoma
- Adenoid cystic carcinoma
- Adenoma of the adrenal gland
- Adenomatoid odontogenic tumor - See Ameloblastoma
- Adenomatous polyposis coli - See Familial adenomatous polyposis
- Adenomatous polyposis of the colon - See Familial adenomatous polyposis
- Adenomyo-epithelioma - See Epithelial-myoepithelial carcinoma
- Adenomyosis - not a rare disease
- Adenosarcoma of the uterus
- Adenosine Deaminase 2 deficiency
- Adenosine deaminase deficiency
- Adenosine deaminase deficient severe combined immunodeficiency - See Adenosine deaminase deficiency
- Adenosine monophosphate deaminase 1 deficiency
- Adenosine monophosphate deaminase deficiency - See Adenosine monophosphate deaminase 1 deficiency
- Adenosine triphosphatase deficiency anemia - See Anemia due to Adenosine triphosphatase deficiency
- Adenosquamous carcinoma of the endometrium
- Adenosylcobalamin deficiency - See Vitamin B12-responsive methylmalonic acidemia
- Adenylosuccinase deficiency
- Adenylosuccinate lyase deficiency - See Adenylosuccinase deficiency
- ADERM - See Adermatoglyphia
- Adermatoglyphia
- Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities - SeeAbsence of fingerprints congenital milia
- ADG - See Adermatoglyphia
- ADH resistant diabetes insipidus - See Nephrogenic diabetes insipidus
- Adhalin deficiency, secondary - See Limb-girdle muscular dystrophy, type 2C
- AD-HIES - See Autosomal dominant hyper IgE syndrome
- Adie syndrome
- Adie's Pupil - See Adie syndrome
- Adiposis dolorosa
- Adiposodysgenesis - See Hypothalamic obesity
- Adiposogenital dystrophy - See Hypothalamic obesity
- ADLD - See Autosomal dominant leukodystrophy with autonomic disease
- ADLTE - See Autosomal dominant partial epilepsy with auditory features
- ADM - See Amyopathic dermatomyositis
- ADMERF - See Hereditary proximal myopathy with early respiratory failure
- Adnexal spiradenoma/cylindroma of a sweat gland
- Adnexal sweat gland spiradenoma/cylindroma - See Adnexal spiradenoma/cylindroma of a sweat gland
- ADNFLE - See Autosomal dominant nocturnal frontal lobe epilepsy
- ADNP syndrome
- ADOA - See Dominant optic atrophy
- Adolescent idiopathic scoliosis - not a rare disease
- Adolescent-onset dystonia of mixed type - See DYT-THAP1
- ADP platelet receptor P2Y12 defect - See Bleeding disorder due to P2RY12 defect
- ADPEAF - See Autosomal dominant partial epilepsy with auditory features
- ADPKD - See Autosomal dominant polycystic kidney disease - not a rare disease
- ADPKD - See Polycystic kidney disease - not a rare disease
- ADR syndrome - See Reardon Wilson Cavanagh syndrome
- Adrenal adenoma - See Adenoma of the adrenal gland
- Adrenal aplasia - See Addison's disease
- Adrenal cancer
- Adrenal cortex adenoma - See Cushing's syndrome
- Adrenal cortical adenoma - See Adenoma of the adrenal gland
- Adrenal Gland Chromaffin Paraganglioma - See Pheochromocytoma
- Adrenal Gland Chromaffinoma - See Pheochromocytoma
- Adrenal gland hyperfunction - See Hyperadrenalism
- Adrenal gland hypofunction - See Addison's disease
- Adrenal Gland Paraganglioma - See Pheochromocytoma
- Adrenal Gland Pheochromocytoma - See Pheochromocytoma
- Adrenal hyperfunction resulting from pituitary acth excess - See Cushing's syndrome
- Adrenal hyperplasia 2 - See 3-beta-hydroxysteroid dehydrogenase deficiency
- Adrenal hyperplasia 4 - See 11-beta-hydroxylase deficiency
- Adrenal hyperplasia hypertensive form - See 11-beta-hydroxylase deficiency
- Adrenal hyperplasia II - See 3-beta-hydroxysteroid dehydrogenase deficiency
- Adrenal hyperplasia IV - See 11-beta-hydroxylase deficiency
- Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency - See 21-hydroxylase deficiency
- ADRENAL HYPERPLASIA, CONGENITAL, DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY - See Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Adrenal hypoplasia - See Addison's disease
- Adrenal hypoplasia congenita - See X-linked adrenal hypoplasia congenita
- Adrenal incidentaloma - See Adenoma of the adrenal gland
- Adrenal medulla cancer
- Adrenocortical adenoma - See Adenoma of the adrenal gland
- Adrenocortical carcinoma
- Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia - See ACTH-independent macronodular adrenal hyperplasia
- Adrenoleukodystrophy - See X-linked adrenoleukodystrophy
- Adrenoleukodystrophy autosomal neonatal form - See Neonatal adrenoleukodystrophy
- Adrenoleukodystrophy childhood cerebral form - See Childhood-onset cerebral X-linked adrenoleukodystrophy
- Adrenoleukodystrophy X-linked cerebral form - See Childhood-onset cerebral X-linked adrenoleukodystrophy
- Adrenomyeloneuropathy
- Adrenomyodystrophy
- ADRVCL - See Retinal vasculopathy with cerebral leukodystrophy
- ADSL deficiency - See Adenylosuccinase deficiency
- ADTKD - See Autosomal dominant tubulointerstitial kidney disease
- ADTKD due to MUC1 mutations - See MUC1-related autosomal dominant tubulointerstitial kidney disease
- ADTKD due to REN mutations - See REN-related autosomal dominant tubulointerstitial kidney disease
- ADTKD due to UMOD mutations - See UMOD-related autosomal dominant tubulointerstitial kidney disease
- ADTKD-MUC1 - See MUC1-related autosomal dominant tubulointerstitial kidney disease
- ADTKD-REN - See REN-related autosomal dominant tubulointerstitial kidney disease
- ADTKD-UMOD - See UMOD-related autosomal dominant tubulointerstitial kidney disease
- Adult dermatomyositis - See Dermatomyositis
- Adult GM1 gangliosidosis - See GM1 gangliosidosis type 3
- Adult granulosa cell tumor of the ovary - See Granulosa cell tumor of the ovary
- Adult NCL - See Adult neuronal ceroid lipofuscinosis
- Adult neuronal ceroid lipofuscinosis
- Adult neuronal ceroid lipofuscinosis 4B - See Autosomal dominant neuronal ceroid lipofuscinosis 4B
- Adult onset cranial-cervical dystonia - See DYT-GNAL
- Adult onset immunodeficiency syndrome - See Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
- Adult paranasal sinus cancer - See Paranasal sinus cancer, adult
- Adult polyglucosan body disease
- Adult progressive spinal muscular atrophy Aran Duchenne type
- Adult pure red cell aplasia - See Acquired pure red cell aplasia
- Adult respiratory distress syndrome - See Acute respiratory distress syndrome
- Adult SMA Aran Duchenne type - See Adult progressive spinal muscular atrophy Aran Duchenne type
- Adult Still's disease - See Adult-onset Still's disease
- Adult stomach cancer - See Stomach cancer
- Adult stomach carcinoma - See Stomach cancer
- ADULT syndrome
- Adult T-cell leukaemia - See Adult T-cell leukemia/lymphoma
- Adult T-cell leukaemia/lymphoma (HTLV-1 positive) - See Adult T-cell leukemia/lymphoma
- Adult T-cell leukemia/lymphoma
- Adult T-cell lymphoma - See Adult T-cell leukemia/lymphoma
- Adult-onset autosomal dominant demyelinating leukodystrophy - See Autosomal dominant leukodystrophy with autonomic disease
- Adult-onset autosomal dominant leukodystrophy - See Autosomal dominant leukodystrophy with autonomic disease
- Adult-onset citrullinemia type 2 - See Adult-onset citrullinemia type II
- Adult-onset citrullinemia type II
- Adult-onset dystonia-parkinsonism - See NBIA/DYT/PARK-PLA2G6
- Adult-onset foveomacular vitelliform dystrophy - See Adult-onset vitelliform macular dystrophy
- Adult-onset immunodeficiency due to anti-interferon-gamma autoantibody - See Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
- Adult-Onset Immunodeficiency with Acquired Anti-Interferon-Gamma Autoantibodies - See Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
- Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
- Adult-onset leukodystrophy with neuroaxonal spheroids - See Hereditary diffuse leukoencephalopathy with spheroids
- Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia - See Hereditary diffuse leukoencephalopathy with spheroids
- Adult-onset nemaline myopathy
- Adult-onset PLS - See Primary lateral sclerosis
- Adult-onset primary lateral sclerosis - See Primary lateral sclerosis
- Adult-onset recurrent respiratory papillomatosis (type) - See Recurrent respiratory papillomatosis
- Adult-onset spinal muscular atrophy - See Spinal muscular atrophy type 4
- Adult-onset Still's disease
- Adult-onset vitelliform macular dystrophy
- Advanced sleep phase syndrome, familial
- Adverse events of 5-alpha-reductase inhibitors
- ADVIRC - See Autosomal dominant vitreoretinochoroidopathy
- Adynamia episodica hereditaria with or without myotonia - See Hyperkalemic periodic paralysis
- AE - See Acrodermatitis enteropathica
- AEC syndrome - See Hay-Wells syndrome
- aEDS - See Arthrochalasia Ehlers-Danlos syndrome
- AEG syndrome - See Syndromic microphthalmia, type 3
- Aerobic actinomyces infection
- AERRPS - See Febrile infection-related epilepsy syndrome
- AEXS - See Aromatase excess syndrome
- AEZ - See Acrodermatitis enteropathica
- AFA syndrome - See Acromegaloid facial appearance syndrome
- AFAP - See Attenuated familial adenomatous polyposis
- AFD Catania type - See Acrofacial dysostosis Catania type
- AFD- Palagonia type - See Acrofacial dysostosis Palagonia type
- AFD, Nager type - See Nager acrofacial dysostosis
- AFFN dysostosis 1 - See Acrofrontofacionasal dysostosis syndrome
- AFFN dysostosis 2 - See Naguib-Richieri-Costa syndrome
- Afibrinogenemia
- Afibrinogenemia congenital - See Afibrinogenemia
- AFLP - See Acute fatty liver of pregnancy
- AFND - See Acromelic frontonasal dysostosis
- African eye worm - See Loiasis
- African iron overload - See Bantu siderosis
- African Kaposi sarcoma - See Endemic Kaposi sarcoma
- African/endemic Kaposi sarcoma - See Endemic Kaposi sarcoma
- AGA deficiency - See Aspartylglycosaminuria
- Agammaglobulinemia X-linked type 2
- Agammaglobulinemia and achondroplasia - See Achondroplasia and Swiss type agammaglobulinemia
- Agammaglobulinemia and isolated growth hormone deficiency, x-linked - See Isolated growth hormone deficiency type 3
- Agammaglobulinemia, Bruton tyrosine kinase - See X-linked agammaglobulinemia
- Agammaglobulinemia, BTK - See X-linked agammaglobulinemia
- Agammaglobulinemia, microcephaly, and severe dermatitis
- Agammaglobulinemia, non-Bruton type
- Aganglionic megacolon - See Hirschsprung's disease
- Aganglionosis, total colonic - See Aganglionosis, total intestinal
- Aganglionosis, total intestinal
- AGAT deficiency - See L-arginine:glycine amidinotransferase deficiency
- AGel amyloidosis - See Familial amyloidosis, Finnish type
- Agenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomalies - See Ben Ari Shuper Mimouni syndrome
- Agenesis of corpus callosum with facial anomalies and Robin sequence - See Toriello-Carey syndrome
- Agenesis of corpus callosum with neuronopathy - See Andermann syndrome
- Agenesis of corpus callosum with peripheral neuropathy - See Andermann syndrome
- Agenesis of corpus callosum with polyneuropathy - See Andermann syndrome
- Agenesis of hemidiaphragm - See Congenital diaphragmatic hernia
- Agenesis of macula - See Coloboma of macula
- Agenesis of the corpus callosum - See Corpus callosum agenesis
- Agenesis of the corpus callosum with mental retardation and osseous lesions - See Kozlowski Ouvrier syndrome
- Agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome - See Graham-Cox syndrome
- Agenesis of the dorsal pancreas
- Agenesis of the internal carotid artery - See Internal carotid agenesis
- Agenesis of the penis - See Penis agenesis
- Age-related macular degeneration - See Macular degeneration - not a rare disease
- Age-related maculopathy - See Macular degeneration - not a rare disease
- Aggressive fibromatosis - See Desmoid tumor
- Aggressive natural killer cell leukemia - See Aggressive NK cell leukemia
- Aggressive NK cell leukemia
- AGID - See Autoimmune gastrointestinal dysmotility
- Aglossia adactylia - See Hanhart syndrome
- Aglossia and Situs Inversus
- Aglucosidase alfa - See Glycogen storage disease type 2
- AGMX2 - See Agammaglobulinemia X-linked type 2
- Agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment - See Agnathia-microstomia-synotia
- Agnathia-holoprosencephaly - See Dysgnathia complex
- Agnathia-microstomia-synotia
- Agnogenic myeloid metaplasia - See Myelofibrosis
- Agnosia
- Agonadism with multiple internal malformations - See PAGOD syndrome
- AGPAT2-related Brunzell syndrome - See Congenital generalized lipodystrophy type 1
- AGPS deficiency - See Rhizomelic chondrodysplasia punctata
- AGR triad - See WAGR syndrome
- Agranulocytosis infantile - See Severe congenital neutropenia autosomal recessive 3
- Agranulocytosis, acquired - See Acquired agranulocytosis
- AGS - See Aicardi-Goutieres syndrome
- AGS1 - See Aicardi-Goutieres syndrome type 1
- AGS2 - See Aicardi-Goutieres syndrome type 2
- AGS3 - See Aicardi-Goutieres syndrome type 3
- AGS4 - See Aicardi-Goutieres syndrome type 4
- AGS5 - See Aicardi-Goutieres syndrome type 5
- AGU - See Aspartylglycosaminuria
- Agyria pachygyria polymicrogyria
- Agyria-pachygyria type 1
.png)
No hay comentarios:
Publicar un comentario