List of rare diseases-A

This is a list of diseases starting with the letter "A".

Table of contents: .A | .B | .C | .D | .E | .F | .G | .H | .I | .J | .K | .L | .M | .N | .O | .P | .Q | .R | .S | .T | .U | .V | .W | .X | .Y | .Z

NIH genetic and rare disease info

• NIH info on List of rare diseases-A

List of rare diseases-A is a rare disease.

• A1AT deficiency

• AA

• AA Amyloidosis

• AAA

• AAA syndrome

• AADC deficiency

• AADH syndrome

• Aagenaes syndrome

• A-alphalipoprotein neuropathy

• AAN

• AAPC

• AARRS

• Aarskog disease

• Aarskog Scott syndrome

• Aarskog syndrome

• Aarskog-Ose-Pande syndrome

• Aase syndrome

• Aase-Smith II syndrome

• Aase-Smith syndrome I

• AAT

• AAT deficiency

• AAT4

• AATD

• AAV

• Aaxia-oculomotor apraxia-3

• ABAT

• Abderhalden Kaufmann Lignac syndrome

• Abderhalden Lignac Kaufmann disease

• Abdominal aortic aneurysm

• Abdominal chemodectomas with cutaneous angiolipomas

• Abdominal cystic lymphangioma

• Abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism

• Abdominal obesity metabolic syndrome

• Abdominal retroperitoneal lymphangioma

• ABDS

• Abducens nerve palsy

• Abductor spasmodic dysphonia (type)

• Aberfeld syndrome

• Abernethy malformation

• Aberrant left subclavian artery

• Aberrant right subclavian artery

• Aberrant subclavian artery

• Abetalipoproteinemia

• Abetalipoproteinemia neuropathy

• ABL

• Ablepharon macrostomia syndrome

• Abnormal fusion of dental cementum with alveolar bone

• Abnormal tooth shape

• ABPA

• ABri amyloidosis

• Abrikosoff's granulous cell tumor

• Abrikosoff's tumor

• Abrikosov’s tumor

• Abruzzo-Erickson syndrome

• Absence of a large part of the brain and the skull

• Absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance

• Absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly

• Absence of dermatoglyphics congenital milia

• Absence of fingerprints

• Absence of fingerprints congenital milia

• Absence of gluteal muscle

• Absence of permanent teeth

• Absence of septum pellucidum

• Absence of testes

• Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy

• Absence of Tibia

• Absence of tibia with polydactyly

• Absence of ulna and fibula with severe limb deficiency

• Absence of upper and lower limbs with pulmonary hypoplasia

• Absence of vagina

• Absence or underdevelopment of the 6th and 7th cranial nerves

• Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies

• Absent breasts and nipples

• Absent corpus callosum cataract immunodeficiency

• Absent enamel, nephrocalcinosis and apparently normal calcium metabolism

• Absent eyebrows and eyelashes with mental retardation

• Absent middle phalanges of digits 2-5 with nail dysplasia

• Absent nails and dystrophic nails

• Absent patella

• Absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

• Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

• Absent radii and thrombocytopenia

• Absent sternum

• Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate

• Abuelo Forman Rubin syndrome

• AC deficiency

• ACAD8 deficiency

• ACADL deficiency

• ACADM deficiency

• ACADS deficiency

• Acalculous cholecystitis

• Acalvaria

• Acanthamoeba keratitis

• Acanthocheilonema perstans infection

• Acanthocheilonemiasis

• Acanthocytosis with neurologic disorder

• Acanthoma

• Acanthoma of the nail matrix

• Acanthosis nigricans - not a rare disease

• Acanthosis nigricans muscle cramps acral enlargement

• Acardia

• ACAT2

• Acatalasemia

• Acatalasia

• ACC

• ACC with abnormal genitalia

• ACC with intestinal lymphangiectasia

• Accelerated silicosis

• Accesory navicular syndrome

• Accessory deep peroneal nerve

• Accessory navicular bone - not a rare disease

• Accessory nipple

• Accessory pancreas

• ACCPN

• Accutane fetal effects of

• Accutane-exposed pregnancies

• ACD

• ACD

• ACD mental retardation syndrome

• ACDC

• Aceruloplasminemia

• Acetazolamide-responsive episodic ataxia syndrome

• Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia

• Acetoacetyl CoA thiolase, cytosolic

• Acetocoenzyme A acetyltransferase 2

• Acetyl CoA acetyltransferase 2 deficiency

• Acetyl-carnitine deficiency

• Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency

• Acetyl-CoA:arylamine n-acetyltransferase

• ACFD

• ACFS

• ACG1A

• ACG1B

• ACG2

• ACH

• Achalasia

• Achalasia Addisonianism Alacrimia syndrome

• Achalasia alacrima syndrome

• Achalasia cardia

• Achalasia microcephaly syndrome

• Achard syndrome

• Achard Thiers syndrome

• Acheiropodia

• Acheiropody

• Acheiropody, Brazilian type

• ACHM1 (formerly)

• ACHM2

• ACHM3

• Achondrogenesis

• Achondrogenesis Fraccaro type

• Achondrogenesis Houston-Harris type

• Achondrogenesis type 1A

• Achondrogenesis type 1B

• Achondrogenesis type 2

• Achondrogenesis type II (formerly)

• Achondrogenesis, Langer-Saldino type

• Achondroplasia

• Achondroplasia so-called and severe combined immunodeficiency

• Achondroplasia-SCID syndrome

• Achondroplasia-severe combined immunodeficiency syndrome

• Achondroplasia-Swiss type agammaglobulinemia syndrome

• Achondroplastic dwarfism

• ACHOO syndrome

• ACHP

• Achromatopsia 2

• Achromatopsia 3

• Achromatopsia incomplete X-linked

• Achromatopsia with myopia

• Acid beta-glucosidase deficiency

• Acid ceramidase deficiency

• Acid maltase deficiency disease

• Acidemia, methylmalonic

• Acinic cell carcinoma

• Acinic cell tumor

• Acitretin embryofetopathy

• Acitretin embryopathy

• Ackee poisoning

• Ackerman fused molar roots syndrome

• ACLS

• Acne inversa

• Acoustic neurilemoma

• Acoustic neurinoma

• Acoustic neurinoma bilateral

• Acoustic neuroma

• Acoustic schwannomas bilateral

• Acoustic tumor

• ACPO

• ACPS 2

• Acquired adult-onset immunodeficiency

• Acquired agranulocytosis

• Acquired amegakaryocytic thrombocytopenia

• Acquired angioedema

• Acquired aphasia with convulsive disorder

• Acquired autoimmune hemolytic anemia

• Acquired C1 inhibitor deficiency

• Acquired epidermolysis bullosa

• Acquired epileptic aphasia

• Acquired epileptiform aphasia

• Acquired factor 8 deficiency

• Acquired factor VII deficiency

• Acquired generalized lipodystrophy

• Acquired haemophilia

• Acquired hemophilia

• Acquired hemophilia A

• Acquired hyperostosis syndrome

• Acquired ichthyosis

• Acquired idiopathic sideroblastic anemia

• Acquired lipoatrophic diabetes

• Acquired neuromyotonia

• Acquired pernicious anemia

• Acquired PRCA

• Acquired pulmonary alveolar proteinosis

• Acquired pure megakaryocytic aplasia

• Acquired pure red cell aplasia

• Acquired Von Willebrand disease

• Acquired Von Willebrand syndrome

• Acral deciduous skin

• Acral dysostosis dyserythropoiesis syndrome

• Acral dysostosis with facial and genital abnormalities

• Acral lentiginous malignant melanoma of skin

• Acral lentiginous melanoma

• Acral peeling skin syndrome

• Acral PSS

• Acral renal ectodermal dysplasia lipoatrophic diabetes

• Acro cephalo synostosis

• Acro dermato ungual lacrimal tooth syndrome

• Acro fronto facio nasal dysostosis

• Acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation

• Acrocallosal syndrome

• Acrocallosal syndrome, Schinzel type

• Acrocapitofemoral dysplasia

• Acrocardiofacial syndrome

• Acro-cardio-facial syndrome

• Acrocephalopolydactylous dysplasia

• Acrocephalopolydactyly

• Acrocephalopolysyndactyly type 2

• Acrocephalo-syndactyly type 1

• Acrocephalosyndactyly type 3

• Acrocephalosyndactyly type 5

• Acrocephalo-syndactyly, type 3

• Acrocephalosyndactyly, type 5

• Acrocephalosyndactyly, type II

• Acrocephaly, skull asymmetry, and mild syndactyly

• Acrocraniofacial dysostosis

• Acrodermatitis

• Acrodermatitis enteropathica

• Acrodermatitis enteropathica zinc deficiency type

• Acrodermatitis, infantile lichenoid

• Acrodermatitis, papular infantile

• Acro-dermato-ungual-lacrimal-tooth syndrome

• Acrodysostosis

• Acrodysplasia

• Acrodysplasia scoliosis

• Acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia

• Acrofacial dysostosis 1, Nager type

• Acrofacial dysostosis Catania type

• Acrofacial dysostosis of Weyers

• Acrofacial dysostosis Palagonia type

• Acrofacial dysostosis Preis type

• Acrofacial dysostosis Rodriguez type

• Acrofrontofacionasal dysostosis syndrome

• Acrofrontofacionasal dysostosis, severe

• Acrogeria

• Acrogeria, Gottron type

• Acrokeratoelastoidosis of Costa

• Acromegaloid changes, cutis verticis gyrata and corneal leukoma

• Acromegaloid facial appearance syndrome

• Acromegaloid facial appearance syndrome and hypertrichosis

• Acromegaloid features, overgrowth, cleft palate and hernia

• Acromegaloid hypertrichosis syndrome

• Acromegaly

• Acromelanosis

• Acromelic frontonasal dysostosis

• Acromesomelic dwarfism

• Acromesomelic dwarfism Maroteux type

• Acromesomelic dysplasia

• Acromesomelic dysplasia Campailla Martinelli type

• Acromesomelic dysplasia Hunter Thompson type

• Acromesomelic dysplasia Maroteaux type

• Acromesomelic dysplasia, Grebe type

• Acrometageria

• Acromicric dysplasia

• Acromicric skeletal dysplasia

• Acroosteolysis dominant type

• Acroosteolysis with osteoporosis and changes in skull and mandible

• Acro-osteolysis-facial dysplasia syndrome

• Acro-oto-ocular syndrome

• Acropectoral syndrome

• Acro-pectoral syndrome

• Acro-pectoro-renal field defect

• Acropectorovertebral dysplasia

• Acropectorovertebral dysplasia F form

• Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes

• Acrorenal mandibular syndrome

• Acrorenal syndrome autosomal recessive

• Acrorenal syndrome recessive

• Acro-renal-uterine-mandibular syndrome

• Acrorenoocular syndrome

• Acrospiroma

• ACRP syndrome

• ACRPS

• ACRPV

• ACS

• ACS 1

• ACS 3

• ACS3

• ACS5

• ACSL4-related intellectual disability

• ACSV

• ACTG2-related disorders

• ACTH deficiency, isolated

• ACTH resistance

• ACTH-independent macronodular adrenal hyperplasia

• ACTH-independent macronodular adrenocortical hyperplasia

• ACTH-secreting pituitary adenoma

• Actinic cheilitis

• Actinic cheilosis

• Actinic lichen planus

• Actinic LP

• Actinomyces israeli

• Actinomycetes

• Actinomycosis

• Activated PI3K-delta syndrome

• ACUG

• Acutane embryopathy

• Acute alcohol sensitivity

• Acute articular rheumatism

• Acute autoimmune peripheral neuropathy

• Acute Berylliosis

• Acute biphenotypic leukemia

• Acute brachial neuritis

• Acute brachial neuritis syndrome

• Acute brachial radiculitis syndrome

• Acute cerebral Gaucher disease

• Acute cholinergic dysautonomia

• Acute colonic ileus

• Acute colonic pseudo-obstruction

• Acute disseminated encephalomyelitis

• Acute encephalitis with refractory repetitive partial seizures

• Acute erythroid leukemia

• Acute erythroleukemia

• Acute erythroleukemia M6a subtype

• Acute erythroleukemia M6b subtype

• Acute fatty liver of pregnancy

• Acute fatty liver, gestational

• Acute febrile neutrophilic dermatosis

• Acute flaccid myelitis

• Acute graft versus host disease

• Acute GVHD

• Acute hemorrhagic leukoencephalitis

• Acute immune-mediated polyneuropathy

• Acute infantile liver failure

• 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 polyneuropathy

• Acute inflammatory demyelinating polyradiculoneuropathy

• Acute inflammatory neuropathy

• Acute inflammatory polyneuropathy

• Acute intermittent porphyria

• Acute interstitial pneumonia

• Acute interstitial pneumonitis

• Acute leukemia of ambiguous lineage

• Acute leukemia of ambiguous lineage

• Acute leukemia of indeterminate lineage

• Acute leukemia of undetermined lineage

• Acute lipodermatosclerosis

• Acute lung injury

• Acute lymphoblastic leukemia

• Acute lymphoblastic leukemia congenital sporadic aniridia

• Acute lymphocytic leukemia

• Acute Marchiafava-Bignami disease

• Acute megakaryoblastic leukemia

• Acute megakaryocytic leukemia

• Acute membranous gingivitis

• Acute monoblastic leukemia

• Acute monocytic leukemia

• Acute mountain sickness

• Acute multifocal placoid pigment epitheliopathy

• Acute myeloblastic leukemia 3

• Acute myeloblastic leukemia M1

• Acute myeloblastic leukemia M2

• Acute myeloblastic leukemia type 1

• Acute myeloblastic leukemia type 2

• Acute myeloblastic leukemia type 3

• Acute myeloblastic leukemia type 4

• Acute myeloblastic leukemia type 5

• Acute myeloblastic leukemia type 7

• 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 FAB-M6

• Acute myeloid leukemia M6

• Acute myeloid leukemia M7

• Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)

• Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)

• 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)

• Acute myeloid leukemia with multilineage dysplasia

• Acute myeloid leukemia with recurrent genetic anomaly

• Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants

• Acute myelomonocytic leukemia

• Acute myelomonocytic leukemia

• Acute myelosclerosis

• Acute necrotizing encephalitis

• Acute necrotizing encephalopathy

• Acute necrotizing encephalopathy type 1

• Acute necrotizing ulcerative gingivitis

• Acute non lymphoblastic leukemia

• Acute non-herpetic encephalitis with severe refractory status epilepticus

• Acute panmyelosis with myelofibrosis

• Acute 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')

• Acute respiratory distress syndrome

• Acute Rheumatic Fever

• Acute rheumatism

• Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma

• Acute shoulder neuritis

• Acute silicosis

• Acute stress cardiomyopathy

• Acute zonal occult outer retinopathy

• ACV

• ACY1 deficiency

• ACY1D

• ACY2 deficiency

• Acyl-CoA dehydrogenase medium chain deficiency of

• Acyl-CoaA dehydrogenase family, member 8, deficiency of

• AD hyperimmunoglobulin E syndrome

• AD1

• AD2

• AD3

• AD4

• ADA deficiency

• ADA2 deficiency

• Adactylia unilateral

• Adair-Dighton syndrome

• Adamantinoma

• Adamantinomatous tumor

• Adams Oliver syndrome

• Adams-Oliver syndrome

• ADANE

• Adaptor Protein Complex 4 Deficiency

• ADA-SCID

• ADC

• ADCA

• ADCA, TYPE II

• ADCADN

• ADCA-DN

• ADCA-DN syndrome

• ADCL

• AD-CNM

• ADCY5-related dyskinesia

• Addison disease

• Addison-Biermer anemia

• Addisonian achalasia syndrome

• Addisonian anemia

• Addison's disease

• Adducted thumb clubfoot syndrome

• Adducted thumb with mental retardation

• Adducted thumbs syndrome

• Adductor spasmodic dysphonia (type)

• ADE

• ADEM

• Adenine phosphoribosyltransferase deficiency

• Adenitis, salivary gland

• Adenoameloblastoma

• Adenocarcinoid tumor

• Adenocarcinoma of Kidney

• Adenocarcinoma of Small Bowel

• Adenocarcinoma of small instestine

• Adenocarcinoma of the appendix

• Adenocarcinoma of the small bowel

• Adenocarcinoma of the small instestine

• Adenocarcinoma of the urachus

• Adenocystic carcinoma

• Adenoid cystic carcinoma

• Adenoma of the adrenal gland

• Adenomatoid odontogenic tumor

• Adenomatous polyposis coli

• Adenomatous polyposis of the colon

• Adenomucinosis

• Adenomyo-epithelioma

• Adenomyosis - not a rare disease

• Adenosarcoma of the uterus

• Adenosine Deaminase 2 deficiency

• Adenosine deaminase deficiency

• Adenosine deaminase deficient severe combined immunodeficiency

• Adenosine monophosphate deaminase 1 deficiency

• Adenosine monophosphate deaminase deficiency

• Adenosine triphosphatase deficiency anemia

• Adenosquamous carcinoma of the endometrium

• Adenosylcobalamin deficiency

• Adenylosuccinase deficiency

• Adenylosuccinate lyase deficiency

• ADERM

• Adermatoglyphia

• Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities

• ADG

• ADH resistant diabetes insipidus

• Adhalin deficiency, secondary

• AD-HIES

• Adie syndrome

• Adie's Pupil

• Adiposis dolorosa

• Adiposodysgenesis

• Adiposogenital dystrophy

• ADLD

• ADLTE

• ADM

• ADMERF

• Adnexal spiradenoma/cylindroma of a sweat gland

• Adnexal sweat gland spiradenoma/cylindroma

• ADNFLE

• ADNP syndrome

• ADNP-related syndromic intellectual disability-autism spectrum disorder

• ADOA

• Adolescent idiopathic scoliosis - not a rare disease

• Adolescent-onset dystonia of mixed type

• ADP platelet receptor P2Y12 defect

• ADPEAF

• ADPKD

• ADPKD

• ADR syndrome

• Adrenal adenoma

• Adrenal aplasia

• Adrenal cancer

• Adrenal cortex adenoma

• Adrenal cortical adenoma

• Adrenal Gland Chromaffin Paraganglioma

• Adrenal Gland Chromaffinoma

• Adrenal gland hyperfunction

• Adrenal gland hypofunction

• Adrenal Gland Paraganglioma

• Adrenal Gland Pheochromocytoma

• Adrenal hyperfunction resulting from pituitary acth excess

• Adrenal hyperplasia 2

• Adrenal hyperplasia 4

• Adrenal hyperplasia hypertensive form

• Adrenal hyperplasia II

• Adrenal hyperplasia IV

• Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency

• ADRENAL HYPERPLASIA, CONGENITAL, DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY

• Adrenal hypoplasia

• Adrenal hypoplasia congenita

• Adrenal incidentaloma

• Adrenal medulla cancer

• Adrenocortical adenoma

• Adrenocortical carcinoma

• Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

• Adrenoleukodystrophy

• Adrenoleukodystrophy autosomal neonatal form

• Adrenoleukodystrophy childhood cerebral form

• Adrenoleukodystrophy X-linked cerebral form

• Adrenomyeloneuropathy

• Adrenomyodystrophy

• ADRVCL

• ADSL deficiency

• ADTKD

• ADTKD due to MUC1 mutations

• ADTKD due to REN mutations

• ADTKD due to UMOD mutations

• ADTKD-MUC1

• ADTKD-REN

• ADTKD-UMOD

• Adult dermatomyositis

• Adult GM1 gangliosidosis

• Adult granulosa cell tumor of the ovary

• Adult NCL

• Adult neuronal ceroid lipofuscinosis

• Adult neuronal ceroid lipofuscinosis 4B

• Adult onset cranial-cervical dystonia

• Adult onset immunodeficiency syndrome

• Adult paranasal sinus cancer

• Adult polyglucosan body disease

• Adult progressive spinal muscular atrophy Aran Duchenne type

• Adult pure red cell aplasia

• Adult respiratory distress syndrome

• Adult SMA Aran Duchenne type

• Adult Still's disease

• Adult stomach cancer

• Adult stomach carcinoma

• ADULT syndrome

• Adult T-cell leukaemia

• Adult T-cell leukaemia/lymphoma (HTLV-1 positive)

• Adult T-cell leukemia/lymphoma

• Adult T-cell lymphoma

• Adult-onset autosomal dominant demyelinating leukodystrophy

• Adult-onset autosomal dominant leukodystrophy

• Adult-onset citrullinemia type 2

• Adult-onset citrullinemia type II

• Adult-onset dystonia-parkinsonism

• Adult-onset foveomacular vitelliform dystrophy

• Adult-onset immunodeficiency due to anti-interferon-gamma autoantibody

• Adult-Onset Immunodeficiency with Acquired Anti-Interferon-Gamma Autoantibodies

• Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

• Adult-onset leukodystrophy with neuroaxonal spheroids

• Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

• Adult-onset nemaline myopathy

• Adult-onset PLS

• Adult-onset primary lateral sclerosis

• Adult-onset recurrent respiratory papillomatosis (type)

• Adult-onset spinal muscular atrophy

• Adult-onset Still's disease

• Adult-onset vitelliform macular dystrophy

• Advanced sleep phase syndrome, familial

• Adverse events of 5-alpha-reductase inhibitors

• ADVIRC

• Adynamia episodica hereditaria with or without myotonia

• AE

• AEC syndrome

• aEDS

• AEG syndrome

• Aerobic actinomyces infection

• AERRPS

• AEXS

• AEZ

• AFA syndrome

• AFAP

• AFD Catania type

• AFD- Palagonia type

• AFD, Nager type

• AFFN dysostosis 1

• AFFN dysostosis 2

• Afibrinogenemia

• Afibrinogenemia congenital

• AFLP

• AFND

• African eye worm

• African iron overload

• African Kaposi sarcoma

• African/endemic Kaposi sarcoma

• AGA deficiency

• Agammaglobulinemia X-linked type 2

• Agammaglobulinemia and isolated growth hormone deficiency, x-linked

• Agammaglobulinemia, Bruton tyrosine kinase

• Agammaglobulinemia, BTK

• Agammaglobulinemia, microcephaly, and severe dermatitis

• Agammaglobulinemia, non-Bruton type

• Aganglionic megacolon

• Aganglionosis, total colonic

• Aganglionosis, total intestinal

• AGAT deficiency

• AGel amyloidosis

• Agenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomalies

• Agenesis of corpus callosum with facial anomalies and Robin sequence

• Agenesis of corpus callosum with neuronopathy

• Agenesis of corpus callosum with peripheral neuropathy

• Agenesis of corpus callosum with polyneuropathy

• Agenesis of hemidiaphragm

• Agenesis of macula

• Agenesis of the corpus callosum

• Agenesis of the corpus callosum with mental retardation and osseous lesions

• Agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome

• Agenesis of the dorsal pancreas

• Agenesis of the internal carotid artery

• Agenesis of the penis

• Age-related macular degeneration

• Age-related maculopathy

• Aggressive fibromatosis

• Aggressive natural killer cell leukemia

• Aggressive NK cell leukemia

• AGID

• Aglossia adactylia

• Aglossia and Situs Inversus

• Aglucosidase alfa

• AGMX2

• Agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment

• Agnathia-holoprosencephaly

• Agnathia-microstomia-synotia

• Agnogenic myeloid metaplasia

• Agnosia

• Agonadism with multiple internal malformations

• AGPAT2-related Brunzell syndrome

• AGPS deficiency

• AGR triad

• Agranulocytosis infantile

• Agranulocytosis, acquired

• AGS

• AGS1

• AGS2

• AGS3

• AGS4

• AGS5

• AGU

• Agyria pachygyria polymicrogyria

• Agyria-pachygyria type 1

• AHC

• AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

• AHDS

• AHL

• AHLE

• Ahmad X-linked Mental retardation syndrome

• AHMIO1

• AHO

• Ahumada Del Castillo syndrome

• aHUS

• AI1G

• AIC

• Aicardi Goutieres syndrome

• Aicardi syndrome

• Aicardi-Goutieres syndrome

• Aicardi-Goutieres syndrome type 1

• Aicardi-Goutieres syndrome type 2

• Aicardi-Goutieres syndrome type 3

• Aicardi-Goutieres syndrome type 4

• Aicardi-Goutieres syndrome type 5

• AIDS Dementia Complex

• AIDS dysmorphic syndrome

• AIDS related cognitive impairment

• AIDS related lymphoma

• AIDS-related lymphoma

• AIED

• AIED

• AIH

• AIH

• AIH1

• AIH3 (formerly)

• AIMAH

• Ainhum

• AION

• AIP

• AIPDS

• Airway-centered idiopathic interstitial pneumonia

• Airway-centered interstitial fibrosis

• AIS

• AISA

• AITL

• Akaba Hayasaka syndrome

• AKE

• Akesson syndrome

• Aksu von Stockhausen syndrome

• AKT2-related familial partial lipodystrophy

• AKT2-related FPLD

• AKU

• AL amyloidosis

• Al Awadi Teebi Farag syndrome

• Al Gazali Al Talabani syndrome

• Al Gazali Aziz Salem syndrome

• Al Gazali Khidr Prem Chandran syndrome

• Al Gazali Sabrinathan Nair syndrome

• Al Gazali syndrome

• Al Gazali-Nair syndrome

• ALA dehydratase deficiency pophyria

• Alacrima-achalasia-adrenal insufficiency neurologic disorder

• Alacrimia-choreoathetosis-liver dysfunction syndrome

• Alagille syndrome

• Alagille-Watson syndrome

• Aland island eye disease

• Alanine-glyoxylate aminotransferase deficiency

• Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus

• Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

• Al-Awadi-Raas-Rothschild syndrome

• Albers-Schoenberg disease

• Albers-Schonberg disease

• Albers-Schonberg osteopetrosis

• Albers-Schönberg osteopetrosis

• Albinism

• Albinism 1

• Albinism 2

• Albinism 3

• Albinism deafness syndrome

• Albinism ocular late onset sensorineural deafness

• Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

• Albinism with immune and hematologic defects

• Albinism, minimal pigment type

• Albinism, Oculocutaneous

• Albinism, oculocutaneous, type 2

• Albinism, oculocutaneous, type 3

• Albinism, yellow mutant type

• Albinism-deafness of Tietz

• Albinism-deafness syndrome

• Albinism-Microcephaly digital anomalies syndrome

• Albinoidism

• Albright hereditary osteodystrophy

• Albright hereditary osteodystrophy with multiple hormone resistance

• Albright hereditary osteodystrophy without multiple hormone resistance

• Albright hereditary osteodystrophy-like syndrome

• Albright like syndrome

• Albright syndrome

• Albright's disease

• Albright's hereditary osteodystrophy

• Alcaptonuria

• ALCL

• Alcohol intolerance

• Alcoholic cerebellar degeneration

• Alcohol-Related Birth Defects (ARBD) - type

• Alcohol-Related Neurodevelopmental Disorder (ARND) - type

• Alcohol-responsive dystonia

• ALD

• ALD childhood cerebral form

• Aldoa deficiency

• ALDOB deficiency

• Aldolase A deficiency

• Aldolase B deficiency

• Aldolase deficiency red cell

• Aldosterone deficiency 1

• Aldosterone deficiency due to defect in 18 hydroxylase

• Aldred syndrome

• Aldrich syndrome

• ALDS

• Aleukemic leukemia cutis

• Alexander disease

• Alexanders leukodystrophy

• Alezzandrini syndrome

• ALG11-CDG

• ALG11-CDG (CDG-Ip)

• ALG12-CDG

• ALG12-CDG (CDG-Ig)

• ALG12-CDG (CDG-Ig)

• ALG12-congenital disorder of glycosylation

• ALG13-CDG

• ALG1-CDG

• ALG1-CDG (CDG-Ik)

• ALG1-CDG (CDG-Ik)

• ALG2-CDG

• ALG2-CDG (CDG-Ii)

• ALG2-CDG (CDG-Ii)

• ALG3-CDG

• ALG3-CDG (CDG-Id)

• ALG3-CDG (CDG-Id)

• ALG6-CDG

• ALG6-CDG (CDG-Ic)

• ALG6-CDG (CDG-Ic)

• ALG8-CDG

• ALG8-CDG (CDG-Ih)

• ALG8-CDG (CDG-Ih)

• ALG9-CDG

• ALG9-CDG (CDG-IL)

• ALG9-CDG (CDG-IL)

• Al-Gazali-Donnai-Mueller syndrome

• ALI

• Alibert-Bazin syndrome

• Alien hand syndrome

• ALK+ histiocytosis

• Alkaptonuria

• Alkaptonuric ochronosis

• ALKURAYA SYNDROME

• Alkyglycerone-Phosphate synthase deficiency

• Alkyldihydroxyacetonephosphate synthase deficiency

• ALL

• ALL with myeloid markers

• Allain-Babin-Demarquez syndrome

• Allan-Herndon syndrome

• Allan-Herndon-Dudley syndrome

• Allergic angiitis

• Allergic angiitis and granulomatosis

• Allergic bronchopulmonary aspergillosis

• Allergic bronchopulmonary mycosis

• Allergic encephalomyelitis

• Allergic granulomatosis

• Allergic granulomatous and angiitis

• Allergic interstitial pneumonitis

• Allergic pneumonitis

• Allgrove syndrome

• ALM

• ALMS

• Alopecia anosmia deafness hypogonadism syndrome

• Alopecia areata - not a rare disease

• Alopecia areata universalis

• Alopecia Celsi

• Alopecia Cicatrisata

• Alopecia Circumscripta

• Alopecia congenita with hyperkeratosis of the palms and soles

• Alopecia deafness hypogonadism

• Alopecia epilepsy oligophrenia syndrome of Moynahan

• Alopecia intellectual disability syndrome 2

• Alopecia intellectual disability syndrome 2

• Alopecia Intellectual disbility syndrome 1

• Alopecia totalis

• Alopecia universalis

• Alopecia Universalis Congenita, Mari type

• Alopecia universalis onychodystrophy vitiligo

• Alopecia universalis, onychodystrophy, and total vitiligo

• Alopecia with mild to moderate intellectual deficit

• Alopecia with severe intellectual deficit

• Alopecia, dysplastic nails, palmar and plantar hyperkeratosis

• Alopecia, epilepsy, pyorrhea, mental subnormality

• Alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality

• Alopecia-contractures-dwarfism mental retardation syndrome

• Alopecia-contractures-dwarfism-intellectual disability syndrome

• Alopecia-epilepsy-intellectual disability syndrome, Moynahan type

• Alopecia-intellectual disability syndrome

• Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis

• Alpers disease

• Alpers progressive infantile poliodystrophy

• Alpers syndrome

• Alpers-Huttenlocher syndrome

• Alpha 1 antitrypsin deficiency

• Alpha Beta crystallinopathy (type)

• Alpha high density lipoprotein deficiency disease

• Alpha KGD deficiency

• Alpha mannosidase B deficiency

• Alpha thalassemia

• Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked

• Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity

• Alpha-1 antitrypsin deficiency

• Alpha-1,4-glucosidase deficiency

• Alpha-2-plasmin inhibitor deficiency

• Alpha-aminoadipic semialdehyde synthase deficiency

• Alpha-galactosidase A deficiency

• Alpha-ketoglutarate dehydrogenase deficiency

• ALPHA-LCAT deficiency

• Alpha-lecithin cholesterol acyltransferase deficiency

• Alpha-l-fucosidase deficiency

• Alpha-L-Iduronidase deficiency

• Alpha-mannosidosis

• Alpha-methylacetoaceticaciduria

• Alpha-N-acetylgalactosaminidase deficiency adult onset

• Alpha-N-acetylgalactosaminidase deficiency type 2

• Alpha-N-acetylgalactosaminidase deficiency type 3

• Alpha-N-acetylgalactosaminidase deficiency, type 1

• Alpha-sarcoglycanopathy

• Alpha-thalassemia

• Alpha-thalassemia x-linked intellectual disability syndrome

• Alpha-thalassemia-abnormal morphogenesis

• Alport syndrome

• Alport syndrome autosomal recessive

• Alport syndrome dominant type

• Alport syndrome recessive type

• Alport syndrome with diffuse leiomyomatosis

• Alport syndrome, X-linked

• ALPS

• ALPS due to CTLA4 haploinsuffiency

• ALPS type 5

• ALPS type V

• ALPS2B

• ALS

• ALS1

• ALS10

• ALS11

• ALS2

• ALS3

• ALS4

• ALS5

• ALS6

• ALS7

• ALS8

• ALS9

• Alsing syndrome

• ALSS

• Alstrom syndrome

• Alström syndrome

• Alstrom's syndrome

• Alternating hemiplegia

• Alternating hemiplegia of childhood

• Alternating hemiplegia syndrome

• Altitude anoxia

• Altitude sickness

• Aluminosis

• Aluminosis of lung

• Aluminosis pulmonum

• Aluminum pneumoconiosis

• Alveolar capillary dysplasia

• Alveolar capillary dysplasia with misalignment of pulmonary veins

• Alveolar capillary dysplasia with pulmonary venous misalignment

• Alveolar echinococcosis

• Alveolar hypoventilation syndrome

• Alveolar rhabdomyosarcoma

• Alveolar soft part sarcoma

• Alveolitis, extrinsic allergic

• Alves syndrome

• Alves-dos Santos-Castelo syndrome

• ALX1-related frontonasal dysplasia

• ALX3-related frontonasal dysplasia

• ALX4-related FNDAG

• Alymphoid cystic thymic dysgenesis

• Alzheimer disease - not a rare disease

• Alzheimer disease 1

• Alzheimer disease 3

• Alzheimer disease 4

• Alzheimer disease associated with APOE E4

• Alzheimer disease early onset type 3

• Alzheimer disease familial type 4

• Alzheimer disease type 1

• Alzheimer disease type 2

• Alzheimer disease type 3

• Alzheimer disease type 4

• Alzheimer's disease without neurofibrillary tangles

• Amastia

• Amaurosis congenita cone-rod type with congenital hypertrichosis

• Amaurosis congenita of Leber, type 1

• Amaurosis congenita of Leber, type 10

• Amaurosis congenita of Leber, type 11

• Amaurosis congenita of Leber, type 12

• Amaurosis congenita of Leber, type 2

• Amaurosis congenita of Leber, type 3

• Amaurosis congenita of Leber, type 4

• Amaurosis congenita of Leber, type 5

• Amaurosis congenita of Leber, type 9

• Amaurosis fugax

• Ambras syndrome

• AMC, distal, X-linked

• AMC, neurogenic type

• AMCD1

• AMCN

• AMD

• AMD

• AMDG

• AMDM

• AME

• AME 1

• Amebiasis

• Amebic dysentery

• Ameloblastic carcinoma

• Ameloblastic carcinoma

• Ameloblastoma

• Amelogenesis imperfecta

• Amelogenesis imperfecta 3, hypoplastic type (formerly)

• Amelogenesis imperfecta and nephrocalcinosis

• Amelogenesis imperfecta and platyspondyly

• Amelogenesis imperfecta hypomaturation type

• Amelogenesis imperfecta hypoplastic type, IG

• Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1

• Amelogenesis imperfecta local hypoplastic

• Amelogenesis imperfecta nephrocalcinosis

• Amelogenesis imperfecta pigmented hypomaturation type

• Amelogenesis imperfecta X-linked 1

• Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2

• Ameloonychohypohidrotic syndrome

• Amenorrhea galactorrhea FSH decrease syndrome

• American trypanosomiasis

• Amino acid disorders

• Amino acid metabolism, inborn errors

• Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis

• Aminoacidopathies - not a rare disease

• Aminoaciduria

• Aminoacylase 1 deficiency

• Aminoacylase 2 deficiency

• Aminolevulinate dehydratase deficiency porphyria

• Aminopterin embryopathy syndrome

• Aminopterin fetopathy syndrome

• Aminopterin syndrome

• Aminopterin syndrome sine aminopterin

• Amish infantile epilepsy syndrome

• Amish lethal microcephaly

• Amish Nemaline Myopathy

• Amish Nemaline Myopathy

• AMKL

• AML M1

• AML M2

• AML M3

• AML M4

• AML M5

• AML M6

• AML M7

• AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)

• AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)

• AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)

• AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)

• AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2)

• AML with lymphoid markers

• AML with multilineage dysplasia

• AML with myelodysplasia-related features

• AML with recurrent genetic anomaly

• AML with t(15;17)(q22;q12);(PML/RARalpha) and variants

• AML-M4

• AML-M5

• AML-M6

• AMMoL

• AMN

• Amniotic band syndrome

• Amniotic bands sequence

• Amoebiasis due to Entamoeba histolytica

• Amoebiasis due to free-living amoebae

• Amoebic dysentery due to Entamoeba histolytica

• AMP deaminase 1 deficiency

• AMP deaminase deficiency

• AMPD1 deficiency

• Ampola syndrome

• AMPPE

• Ampullary somatostatinoma

• AMR syndrome 1

• AMR syndrome 2

• AMS

• Amylo-1,6-glucosidase deficiency

• Amyloid A amyloidosis

• Amyloid corneal dystrophy, Japanese type

• Amyloid cranial neuropathy with lattice corneal dystrophy

• Amyloid neuropathy

• Amyloidosis 8

• Amyloidosis 9

• Amyloidosis AA

• Amyloidosis AL

• Amyloidosis Beta2M

• Amyloidosis bronchopulmonary

• Amyloidosis cerebral with spongiform encephalopathy

• Amyloidosis corneal

• Amyloidosis cutis nodularis atrophicans

• Amyloidosis dialysis-related

• Amyloidosis familial cutaneous lichen

• Amyloidosis familial renal

• Amyloidosis familial visceral

• Amyloidosis hereditary

• Amyloidosis IX

• Amyloidosis nodular localized cutaneous

• Amyloidosis of gingiva and conjunctiva with intellectual disability

• Amyloidosis of gingiva and conjunctiva with mental retardation

• Amyloidosis primary systemic

• Amyloidosis systemic nonneuropathic

• Amyloidosis Transthyretin related

• Amyloidosis V

• Amyloidosis VIII

• Amyloidosis, hereditary, transthyretin-related

• Amyloidosis, Ostertag type

• Amylopectinosis

• Amyopathic dermatomyositis

• Amyotonia congenita

• Amyotrophic lateral sclerosis

• Amyotrophic lateral sclerosis 10

• Amyotrophic lateral sclerosis 11

• Amyotrophic lateral sclerosis 3

• Amyotrophic lateral sclerosis 4

• Amyotrophic lateral sclerosis 5

• Amyotrophic lateral sclerosis 7

• Amyotrophic lateral sclerosis 8

• Amyotrophic lateral sclerosis 9

• Amyotrophic lateral sclerosis type 1

• Amyotrophic lateral sclerosis type 10

• Amyotrophic lateral sclerosis type 11

• Amyotrophic lateral sclerosis type 2

• Amyotrophic lateral sclerosis type 3

• Amyotrophic lateral sclerosis type 4

• Amyotrophic lateral sclerosis type 5

• Amyotrophic lateral sclerosis type 6

• Amyotrophic lateral sclerosis type 7

• Amyotrophic lateral sclerosis type 8

• Amyotrophic lateral sclerosis type 9

• Amyotrophic lateral sclerosis, juvenile

• Amyotrophic lateral sclerosis, Parkinsonism/Dementia complex of Guam

• Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1

• Amyotrophy fat tissue anomaly

• Amyotrophy, hereditary neuralgic, with predilection for brachial plexus

• Amyotrophy, neurogenic scapuloperoneal, New England type

• AN

• Anaerobic actinomyces infection

• Anal anomalies, renal tract abnormalities, genital malformations, and syndactyly

• Anal atresia

• Anal cancer

• Anal sphincter dysplasia

• Anal stenosis

• ANALBA

• Analbuminemia

• Analphalipo-proteinemia

• Anaphylactoid purpura

• Anaplastic astrocytoma

• Anaplastic ependymoma

• Anaplastic ganglioglioma

• Anaplastic large cell lymphoma

• Anaplastic lymphoma kinase positive histiocytosis

• Anaplastic oligoastrocytoma

• Anaplastic oligodendroglioma

• Anaplastic plasmacytoma

• Anaplastic pleomorphic xanthoastrocytoma

• Anaplastic skeletal plasmacytoma (type)

• Anaplastic small cell lymphoma

• Anaplastic thyroid cancer

• Anaplastic thyroid carcinoma

• Anauxetic dysplasia

• ANCA-associated vasculitis

• Ancell-Spiegler cylindromas

• ANCL

• Ancylostoma duodenale infection

• Ancylostomiasis

• Andermann syndrome

• Andersen cardiodysrhythmic periodic paralysis

• Andersen disease

• Andersen-Tawil syndrome

• Anderson-Fabry disease

• Anderson-Warburg syndrome

• Andre syndrome

• Androblastoma of ovary

• Androgen insensitivity syndrome

• Androgen insensitivity syndrome, complete

• Androgen insensitivity syndrome, mild

• Androgen insensitivity syndrome, partial

• Androgen insensitivity, partial, with or without breast cancer

• Androgen receptor deficiency

• Androgen resistance syndrome, partial

• Androgenetic alopecia - not a rare disease

• Androgenic alopecia

• ANE

• ANE1

• Anemia aplastic

• Anemia congenital erythroid hypoplastic

• Anemia congenital sideroblastic B6-responsive

• Anemia Diamond Blackfan type

• Anemia Diamond-Blackfan 2

• Anemia Diamond-Blackfan 3

• Anemia due to Adenosine triphosphatase deficiency

• Anemia hemolytic autoimmune

• Anemia hemolytic congenital

• Anemia hereditary sideroblastic

• Anemia sex-linked hypochromic sideroblastic

• Anemia sideroblastic

• Anemia sideroblastic and spinocerebellar ataxia

• Anemia, dyserythropoietic, congenital type 1

• Anemia, dyserythropoietic, congenital type 2

• Anemia, hemolytic, cold antibody

• Anemia, hypochromic microcytic, with defect in iron metabolism

• Anencephaly

• Anencephaly and spina bifida X-linked

• Anesthesia related hyperthermia

• Anesthetic-induced malignant hyperpyrexia in children

• Aneurysm - osteoarthritis syndrome

• Aneurysm of sinus of Valsalva

• Aneurysm, abdominal aortic

• Aneurysm, intracranial berry, 2

• Aneurysmal bone cysts

• Aneurysm-osteoarthritis syndrome

• Aneurysms-osteoarthritis syndrome

• Angel shaped phalangoepiphyseal dysplasia

• Angelman syndrome

• Angelman-like syndrome x-linked

• Angel-shaped phalango-epiphyseal dysplasia

• Angiitis

• Angina inversa

• Angiocentric T-cell lymphoma

• Angioedema, acquired

• Angioedema, hereditary

• Angioedema, vibratory

• Angiofollicular ganglionic hyperplasia

• Angiofollicular lymph hyperplasia

• Angioimmunoblastic lymphadenopathy with dysproteinemia

• Angioimmunoblastic T-cell lymphoma

• Angioimmunoblastic with dysproteinemia lymphadenopathy

• Angiokeratoma corporis diffusum

• Angiokeratoma, diffuse

• Angioma hereditary neurocutaneous

• Angioma serpiginosum

• Angioma tufted

• Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert

• Angiomyomatous Hamartoma

• Angio-osteohypertrophy syndrome

• Angiosarcoma associated with chronic lymphedema

• Angiosarcoma of the breast

• Angiosarcoma of the liver

• Angiosarcoma of the scalp

• Angiospastic macules

• Angiostrongyliasis

• ANH1

• Anhidrotic ectodermal dysplasia

• Anhidrotic ectodermal dysplasia with immune deficiency

• Anhidrotic ectodermal dysplasia X-linked

• Anhidrotic ectodermal dysplasia, autosomal recessive

• ANIB2

• ANIC

• Aniridia

• Aniridia - ptosis - intellectual disability - familial obesity

• Aniridia absent patella

• Aniridia associated with mental retardation and other eye abnormalities

• Aniridia partial with unilateral renal agenesis and psychomotor retardation

• Aniridia renal agenesis psychomotor retardation

• Aniridia, cerebellar ataxia and mental deficiency

• Aniridia, ectopia lentis, abnormal upper incisors and mental retardation

• Aniridia-ptosis-intellectual disability-familial obesity syndrome

• Anisakiasis

• Anisakis infection

• Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type

• Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type

• ANKL

• Ankyloblepharon ectodermal defects cleft lip/palate

• Ankyloblepharon filiforme adnatum

• Ankyloblepharon filiforme adnatum cleft palate

• Ankyloblepharon filiforme congenitum

• Ankyloblepharon filiforme imperforate anus

• Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

• Ankylosing spondylitis - not a rare disease

• Ankylosing spondyloarthritis

• Ankylosing vertebral hyperostosis with tylosis

• Ankylosis of teeth

• Ankylosis of the temporomandibular joint (TMJ)

• Ankyrin-B syndrome

• ANM

• Annular atrophic lichen planus

• Annular atrophic LP

• Annular constricting bands

• Annular lichen planus

• Annular LP

• Annular pancreas

• Annuloaortic ectasia

• Anodontia

• Anodontia of permanent dentition

• Anomalous insertion of extensor tendons of fingers

• Anomalous origin of right pulmonary artery familial

• Anomalous pulmonary venous return

• Anomalous ventricular excitation syndrome

• Anonychia and absence/hypoplasia of distal phalanges

• Anonychia congenita

• Anonychia ectrodactyly

• Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly

• Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges

• ANOP2 (formerly)

• Anophthalmia cleft palate micrognathia

• Anophthalmia clinical with associated anomalies

• Anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia

• Anophthalmia esophageal atresia cryptorchidism

• Anophthalmia esophageal genital syndrome

• Anophthalmia megalocornea cardiopathy skeletal anomalies

• Anophthalmia microphthalmia esophageal atresia

• Anophthalmia plus syndrome

• Anophthalmia Waardenburg syndrome

• Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder

• Anophthalmia/microphthalmia and pulmonary hypoplasia

• Anophthalmos with limb anomalies

• Anophthalmos-syndactyly

• Anorchia

• Anorectal Malformations

• Anosmic hypogonadism

• Anosmic idiopathic hypogonadotropic hypogonadism

• ANOTHER syndrome

• Anotia facial palsy cardiac defect

• Anotia/microtia, upslanted fissures, sutural synostosis,multiple

• ANSD

• Antecubital pterygium

• Antenatal Bartter Syndrome type 1

• Antenatal diethylstilbestrol exposure

• Antenatal indomethacin exposure

• Anterior cervical hypertrichosis

• Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis

• Anterior ischemic optic neuropathy

• Anterior segment developmental anomaly

• Anterior segment dysgenesis

• Anterior segment mesenchymal dysgenesis

• Anterior segment ocular dysgenesis

• Anterior spinal artery stroke

• Anterior submucous laryngeal cleft (subtype)

• Anterior uveitis

• Anthrax

• Anthrax, skin type

• Antibody Deficiency

• Anti-C1q vasculitis

• Antigen-peptide-transporter 2 deficiency

• Anti-glomerular basement membrane antibody disease

• Anti-HLA hyperimmunization

• Anti-HMG-CoA myopathy

• Anti-IFN-gamma autoantibody syndrome

• Anti-Jo1 syndrome

• Antineutrophil cytoplasmic antibody-associated vasculitis

• Anti-neutrophil cytoplasmic antibody-associated vasculitis

• Antiphospholipid antibody syndrome

• Antiphospholipid syndrome

• Anti-PIT-1 antibody syndrome

• Antiplasmin deficiency, congenital

• Anti-plasmin deficiency, congenital

• Antiquitin deficiency

• Anti-SRP myopathy

• Antisynthetase syndrome

• Antithrombin deficiency type 2

• Antithrombin III Deficiency

• Antithrombmin III deficiency Type II

• Antley Bixler syndrome

• Anton-Babinski syndrome

• Antoni's palsy

• Anton's syndrome

• Antopol disease

• ANUG

• Anus, imperforate, with hand, foot and ear anomalies

• AO2

• AO3

• AOA1

• AOA2

• AOA3

• AOA4

• AOCH

• AOI

• AOI

• AOII

• AOIII

• AOM

• AOMS1

• AORRP (type)

• Aorta-pulmonary artery fistula

• Aortic aneurysm syndrome, Loeys-Dietz type

• Aortic aneurysm, familial thoracic 4

• Aortic aneurysm/aortic dissection and patent ductus arteriosus

• Aortic arch anomaly - peculiar facies - intellectual disability

• Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

• Aortic arch anomaly-peculiar facies-intellectual disability syndrome

• Aortic arch defects

• Aortic arch interruption

• Aortic arch syndrome

• Aortic arches defect

• Aortic coarctation

• Aortic dissection lentiginosis

• Aortic stenosis

• Aortic supravalvular stenosis

• Aortic valve stenosis

• Aortic valves stenosis of the child

• Aortic-pulmonary window

• Aorto-pulmonary artery fistula

• Aortopulmonary fistula

• Aortopulmonary septal defect

• Aortopulmonary window

• Aorto-pulmonary window

• AOS

• AOT

• AP-4 Deficiency

• AP4 deficiency syndrome

• AP4 deficiency syndrome

• AP-4 Deficiency Syndrome

• AP-4-Associated Hereditary Spastic Paraplegia

• AP-4-Associated HSP

• APBD

• APBN

• APC resistance, Leiden type

• APCA

• APD

• APDS

• Apert syndrome

• Apert syndrome with polydactyly of hands and feet

• Apert-Crouzon disease

• Aphakia, congenital primary

• Aphalangia partial with syndactyly and duplication of metatarsal IV

• Aphalangy of the hands and feet, hemivertebrae, and visceral malformations

• Aphalangy with Hemivertebrae

• Aphasia, primary progressive

• Aphthous stomatitis

• Aphthous Stomatitis, Recurrent

• Aphthous Ulcer, Recurrent

• Apical ballooning syndrome

• Apical dystrophy

• APL

• Aplasia cutis cleft palate epidermolysis

• Aplasia cutis congenita

• Aplasia cutis congenita intestinal lymphangiectasia

• Aplasia cutis congenita nonsyndromic

• Aplasia cutis congenita of limbs recessive

• Aplasia cutis congenita with epibulbar dermoids

• Aplasia cutis congenita with gastrointestinal atresia

• Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly

• Aplasia cutis myopia

• Aplasia of cerebellar vermis

• Aplasia of the cord

• Aplasia of tibia with ectrodactyly

• Aplasia of trochlea of the humerus

• Aplastic anemia

• Aplastic anemia idiopathic

• APML

• APMPPE

• APMR1

• APMR2

• Apnea of infancy

• Apnea, Postanesthetic

• Apo A-I deficiency

• APOC2 deficiency

• Apocrine carcinoma

• Apocrine miliaria

• Apolipoprotein B deficiency

• Apolipoprotein C-II deficiency

• Apparent Apert syndrome with polydactyly

• Apparent mineralocorticoid excess

• Appelt-Gerken-Lenz syndrome

• Apple peel small bowel syndrome

• Apple peel syndrome

• Apple-peel intestinal atresia

• Apraxia

• Apraxia, oculomotor, with congenital contractures and muscle atrophy

• Aprosencephaly syndrome

• Aprosencephaly-atelencephaly syndrome

• APRT deficiency

• APRT deficiency

• APS

• APS 1

• APS2

• APS3

• APSB

• APVR

• Aquagenic keratoderma

• Aquagenic Palmoplantar Keratoderma

• Aquagenic pruritus

• Aquagenic syringeal acrokeratoderma

• Aquagenic urticaria

• Aquagenic wrinkling of the hands

• Aquagenic wrinkling of the palms

• Aqueductal stenosis, X-linked

• AR dRTA

• AR dRTA with hearing loss

• AR dRTA wth deafness

• AR hyperimmunoglobulin E syndrome

• Arachnodactyly - intellectual disability - dysmorphism

• Arachnodactyly, abnormal ossification and mental retardation

• Arachnodactyly, contractural Beals type

• Arachnodactyly, joint laxity, and spondylolisthesis

• Arachnodactyly, receding lower jaw and joint laxity of hands/feet

• Arachnodactyly-intellectual disability-dysmorphism syndrome

• Arachnoid cysts

• Arachnoid cysts, intracranial

• Arachnoid cysts, spinal intradural

• Arachnoiditis

• Arakawa syndrome 1

• Aran Duchenne spinal muscular atrophy

• ARAN-NM

• Arbovirosis

• Arbovirus A Chikungunya type

• Arbovirus fever

• ARC syndrome

• ARCA1

• ARCA2

• ARCL2A

• AR-CMT1

• ARCMT2K

• ARCMT2-NM

• AR-CNM

• ARDS

• AREDYLD

• Aredyld Syndrome

• Aregenerative anemia chronic congenital

• Arena syndrome

• ARG1 deficiency

• Arginase deficiency

• Arginine:glycine amidinotransferase deficiency

• Argininemia

• Arginino succinase deficiency

• Argininosuccinate acidemia

• Argininosuccinate lyase deficiency

• Argininosuccinate synthetase deficiency

• Argininosuccinic acid lyase deficiency

• Argininosuccinic aciduria

• Argininosuccinicaciduria

• Argonz Ahumada Del Castillo syndrome

• Argonz Del Castillo syndrome

• Argyrophil myenteric plexus deficiency of

• AR-HIES

• Arhinia choanal atresia microphthalmia

• Arias syndrome

• ARIH

• Arima syndrome

• Aristolochic acid nephropathy

• Arkless-Graham syndrome

• ARM

• ARMS

• Arndt-Gottron disease

• Arnold Chiari malformation

• Arnold Chiari malformation type I

• Arnold Chiari malformation type II

• Arnold Chiari malformation type III

• Arnold Chiari malformation type IV

• Arnold Stickler Bourne syndrome

• Arnold-Chiari malformation

• Arnold-Chiari malformation type 1

• Arnold-Chiari malformation type I

• Arnold-Chiari malformations

• AROMATASE ACTIVITY, INCREASED

• Aromatase deficiency

• Aromatase excess syndrome

• Aromatic amino acid decarboxylase deficiency

• Aromatic L-amino acid decarboxylase deficiency

• ARPA familial

• arPEO

• ARPKD

• Arrest of spermatogenesis

• Arrhenoblastoma

• Arrhenoblastoma of ovary

• Arrhinia

• Arrhythmogenic right ventricular cardiomyopathy

• Arrhythmogenic right ventricular dysplasia

• Arroyo Garcia Cimadevilla syndrome

• ARSA deficiency

• ARSACS

• ARSB deficiency

• Arterial calcification and distal joint calcification

• Arterial calcification due to CD73 deficiency

• Arterial calcification due to deficiency of CD73

• Arterial calcification of infancy

• Arterial tortuosity

• Arterial tortuosity syndrome

• Arterial-ecchymotic EDS

• Arteriohepatic dysplasia

• Arteriomesenteric duodenal compression syndrome

• Arteriosclerosis, retina

• Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes

• Arteriovenous malformation, pulmonary

• Arteritis cranialis

• Arteritis temporalis

• Arthogryposis with oculomotor limitation and electroretinal abnormalities

• Arthritis, juvenile rheumatoid

• Arthrochalasia EDS

• Arthrochalasia Ehlers-Danlos syndrome

• Arthrochalasis multiplex congenita

• Arthrocutaneouveal granulomatosis

• Arthrodentoosteodysplasia

• Arthrogryposis

• Arthrogryposis - ectodermal dysplasia - other anomalies

• Arthrogryposis - renal dysfunction - cholestasis

• Arthrogryposis and ectodermal dysplasia

• Arthrogryposis distal type 2A

• Arthrogryposis distal type 3

• Arthrogryposis distal type 7

• Arthrogryposis due to muscular dystrophy

• Arthrogryposis epileptic seizures migrational brain disorder

• Arthrogryposis IUGR thoracic dystrophy

• Arthrogryposis multiplex congenita

• Arthrogryposis multiplex congenita associated with lissencephaly

• Arthrogryposis multiplex congenita CNS calcification

• Arthrogryposis multiplex congenita distal

• Arthrogryposis multiplex congenita distal type 1

• Arthrogryposis multiplex congenita distal type 2B

• Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities

• Arthrogryposis multiplex congenita Escobar variant form

• Arthrogryposis multiplex congenita neurogenic type

• Arthrogryposis multiplex congenita pulmonary hypoplasia

• Arthrogryposis multiplex congenita whistling face

• Arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder

• Arthrogryposis multiplex congenita with pulmonary hypoplasia

• Arthrogryposis multiplex congenita, distal, X-linked

• Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings

• Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis

• Arthrogryposis multiplex congenita-whistling face syndrome

• Arthrogryposis multiplex with deafness, inguinal hernias, and early death

• Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome

• Arthrogryposis ophthalmoplegia retinopathy

• Arthrogryposis renal dysfunction cholestasis syndrome

• Arthrogryposis spinal muscular atrophy

• Arthrogryposis with Hyperkeratosis

• Arthrogryposis with oculomotor limitation and electroretinal abnormalities

• Arthrogryposis, distal, type 6

• Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay

• Arthrogryposis-like disorder

• Arthrogryposis-like hand anomaly and sensorineural deafness

• Arthrogryposis-like syndrome

• Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome

• Arthrogryposis-renal dysfunction-cholestasis syndrome

• Arthro-Onychodysplasia

• Arthroophthalmopathy, hereditary progressive

• Arthropathy camptodactyly syndrome

• Arthropathy, progressive pseudorheumatoid, of childhood

• Arthropathy-camptodactyly syndrome

• Arthrosis, flat face, hypotonia, short neck and macrocephaly

• Articular hypermobility syndrome

• Articulatory apraxia

• Artificial joint infection

• ARTS

• Arts syndrome

• ARVC

• ARVD

• ARX-related intellectual disability

• Arylamine n-acetyltransferase 1

• Arylsulfatase A deficiency

• Arylsulfatase B deficiency

• Arylsulfatase E deficiency

• AS

• AS syndrome

• ASA deficiency

• ASAT

• Asbestosis

• ASC

• Ascher Syndrome

• Ascher's syndrome

• Ascitis, splenomegaly, lymphadenopathy

• ASCT1 deficiency

• ASD

• ASD coronary sinus

• ASD ostium primum type

• ASD ostium secundum type

• ASDP

• Aseptic abscesses syndrome

• Aseptic necrosis of the tarsal bone

• Aseptic systemic abscesses

• Asherman syndrome

• Asherman's syndrome

• Askin’s tumor (PNET of the chest wall) (type)

• ASL deficiency

• ASMD

• ASOD

• ASP deficiency

• ASPA deficiency

• Aspartoacylase deficiency

• Aspartylglucosamidase (AGA) deficiency

• Aspartylglucosaminuria

• Aspartylglycosaminuria

• ASPED

• Asperger disorder

• Asperger syndrome - not a rare disease

• Aspergillosis

• Aspergillosis, allergic bronchopulmonary

• Aspergillus niger infection

• Aspergillus niger infection, pulmonary

• Asphyxia neonatorum

• Asphyxiating thoracic dystrophy

• Asphyxiating thoracic dystrophy of the newborn

• Asplenia syndrome

• Asplenia with cardiovascular anomalies

• Asprin-like platelet disorder

• ASPS

• Asrar Facharzt Haque syndrome

• ASS deficiency

• ASSA

• Association of cutaneous vascular malformations and different pigmentary disorders

• Association of muscular pseudohypertrophy and hypothyroidism in children

• Association of skeletal defects resembling achondrogenesis with generalized bone sclerosis

• Asternia

• Asternia with Cardiac, Diaphragmatic, and Abdominal defects

• Asthma - not a rare disease

• Astley-Kendall dysplasia

• Astley-Kendall syndrome

• Astroblastoma

• ASXL2/Shashi-Pena Syndrome

• ASXL3/Bainbridge-Ropers Syndrome

• Asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia

• Asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia

• Asymmetry in the pigmentation of the irides

• Asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes

• AT

• Ataxia - hypogonadism - choroidal dystrophy

• Ataxia telangiectasia

• Ataxia with isolated vitamin E deficiency

• Ataxia with lactic acidosis 1

• Ataxia with lactic acidosis 2

• Ataxia with oculomotor apraxia type 1

• Ataxia with Oculomotor Apraxia Type 2

• Ataxia with oculomotor apraxia type 3

• Ataxia with oculomotor apraxia type 4

• Ataxia with vitamin E deficiency

• Ataxia, chorea, seizures, and dementia

• Ataxia, familial, paroxysmal

• Ataxia, harding type

• Ataxia, hearing loss, and mental retardation

• Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency

• Ataxia-deafness syndrome X-linked

• Ataxia-deafness-retardation syndrome

• Ataxia-deafness-retardation syndrome with ketoaciduria

• Ataxia-dementia syndrome X-linked

• Ataxia-hypogonadism-choroidal dystrophy syndrome

• Ataxia-oculomotor apraxia 1

• Ataxia-oculomotor apraxia 3

• Ataxia-oculomotor apraxia type 1

• Ataxia-oculomotor apraxia type 2

• Ataxia-oculomotor apraxia type 4

• Ataxia-oculomotor apraxia-4

• Ataxia-pancytopenia syndrome

• Ataxia-Telangiectasia variant V1

• Ataxia-telangiectasia-like syndrome

• Ataxic cerebral palsy

• Ataxo-opso-myoclonus syndrome

• ATD

• Atelosteogenesis II

• Atelosteogenesis type 1

• Atelosteogenesis type 2

• Atelosteogenesis type 3

• ATFB

• Athabaskan brainstem dysgenesis

• Athabaskan Brainstem Dysgenesis Syndrome

• A-Thalassemia

• Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease

• Athetoid cerebral palsy

• Athetosis

• Atkin syndrome

• Atkin-Flaitz syndrome

• Atlantoaxial Fusion

• Atlanto-Axial Fusion

• Atlantoaxial joint fusion

• ATLL

• ATN

• ATR, nondeletion type

• Atransferrinemia

• Atresia of small intestine

• Atresia of small intestine

• Atrial fibrillation autosomal dominant

• Atrial fibrillation, familial

• Atrial myxoma, familial

• Atrial septal defect coronary sinus

• Atrial septal defect ostium primum

• Atrial septal defect sinus venosus

• Atrio digital syndrome

• Atriodigital dysplasia

• Atrio-ventricular and ventriculo-arterial double discordia

• Atrioventricular septal defect

• Atrophia bulborum hereditaria

• Atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles

• Atrophic lichen planus

• Atrophic LP

• Atrophic papulosis, malignant

• Atrophie blanche

• Atrophoderma of Pierini and Pasini

• Atrophoderma vermiculata

• Atrophoderma vermiculatum

• Atrophodermia reticulata

• Atrophodermia reticulata symmetrica faciei

• Atrophodermia vermiculata

• ATRX syndrome

• ATS

• ATS-DL

• Attenuated adenomatous polyposis coli

• Attenuated congenital adrenal hyperplasia

• Attenuated familial adenomatous polyposis

• Attenuated familial polyposis coli

• Attenuated FAP

• Attenuated MPS (subtype; formerly known as mild MPS II)

• Attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)

• Atypical childhood HUS

• Atypical Gaucher disease due to saposin C deficiency

• Atypical hemolytic uremic syndrome

• Atypical HUS

• Atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality

• Atypical mycobacterial infection, disseminated

• Atypical mycobacterial infection, familial disseminated

• Atypical mycobacteriosis, familial

• Atypical neuroaxonal dystrophy

• Atypical osteomalacia involving the axial skeleton

• Atypical Philadelphia-negative chronic myeloid leukemia

• Atypical progeroid syndrome

• Atypical PSP

• Atypical Rett syndrome

• Atypical teratoid rhabdoid tumor

• Atypical Werner syndrome

• AU

• Auditory dyssynchrony

• Auditory dys-synchrony

• Auditory neuropathy

• Auditory neuropathy spectrum disorder

• Aughton Sloan Milad syndrome

• Aughton syndrome

• Aur syndrome

• Aural cephalosyndactyly

• Auralcephalosyndactyly

• Auriculocondylar syndrome

• Auriculo-condylar syndrome

• Auriculoosteodysplasia

• Auriculo-osteodysplasia

• Auriculotemporal nerve syndrome

• Auriculoventricular accessory pathway syndrome

• Ausems Wittebol-Post Hennekam syndrome

• Autism spectrum disorder - not a rare disease

• Autism with port-wine stain

• Autism, dementia, ataxia, and loss of purposeful hand use

• Autoerythrocyte sensitization

• Autoerythrocyte sensitization purpura

• Autoerythrocyte sensitization syndrome

• Autoimmune atrophic gastritis - not a rare disease

• Autoimmune autonomic ganglionopathy

• Autoimmune Autonomic Neuropathy

• Autoimmune chronic hepatitis

• Autoimmune disease, syndromic multisystem

• Autoimmune encephalitis

• Autoimmune enteropathy

• Autoimmune gastrointestinal dysmotility

• Autoimmune hemolytic anemia

• Autoimmune hemolytic anemia and autoimmune thrombocytopenia

• Autoimmune hepatitis

• Autoimmune hypophysitis

• Autoimmune Inner Ear disease

• Autoimmune lymphoproliferative syndrome

• Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

• Autoimmune lymphoproliferative syndrome type 1, autosomal dominant

• Autoimmune lymphoproliferative syndrome type 2B

• Autoimmune lymphoproliferative syndrome type 5

• Autoimmune lymphoproliferative syndrome type V

• Autoimmune lymphoproliferative syndrome without FAS mutations

• Autoimmune lymphoproliferative syndrome, type V

• Autoimmune myocarditis

• Autoimmune necrotizing myositis

• Autoimmune oophoritis

• Autoimmune pancreatitis

• Autoimmune polyendocrine syndrome type 1

• Autoimmune polyendocrine syndrome type 2

• Autoimmune polyendocrine syndrome type 3

• Autoimmune polyendocrinopathy syndrome type 1

• Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)

• Autoimmune polyglandular syndrome type 1

• Autoimmune polyglandular syndrome type 2

• Autoimmune polyglandular syndrome type 3

• Autoimmune polyglandular syndrome type I

• Autoimmune polyglandular syndrome type II

• Autoimmune polyglandular syndrome type III

• Autoimmune progesterone dermatitis

• Autoimmune pulmonary alveolar proteinosis

• Autoimmune retinopathy

• Autoimmune thrombocytopenic purpura

• Autoimmune thyroiditis

• Autoimmune vasculitis

• Autoimmunity-immunodeficiency syndrome x-linked

• Autoinflammation, panniculitis, and dermatosis syndrome

• Autosomal agammaglobulinemia

• Autosomal dominant acute necrotizing encephalopathy

• Autosomal dominant adult-onset demyelinating leukodystrophy

• Autosomal dominant Alport syndrome

• Autosomal dominant atrial fibrillation

• Autosomal dominant axonal Charcot-Marie-Tooth disease

• Autosomal dominant blepharophimosis with multiple congenital anomalies

• Autosomal dominant brachyolmia

• Autosomal dominant centronuclear myopathy

• Autosomal dominant cerebellar ataxia

• Autosomal dominant cerebellar ataxia type 2

• Autosomal dominant cerebellar ataxia with mental retardation

• Autosomal dominant cerebellar ataxia, deafness and narcolepsy

• Autosomal dominant cerebellar ataxia, deafness, and narcolepsy

• Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

• Autosomal dominant Charcot-Marie-Tooth disease type 2

• Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

• Autosomal dominant Charcot-Marie-Tooth disease type 2L

• 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 childhood-onset proximal spinal muscular atrophy with contractures

• Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures

• Autosomal dominant compelling helio ophthalmic outburst syndrome

• Autosomal dominant cutis laxa

• Autosomal dominant deafness-onychodystrophy syndrome

• Autosomal dominant deafness-onychodystrophy syndrome

• Autosomal dominant demyelinating Charcot-Marie-Tooth disease

• Autosomal dominant diffuse Lewy body disease

• Autosomal dominant dyskeratosis congenita

• Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types

• Autosomal dominant familial erythrocytosis-1

• Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

• Autosomal dominant focal dystonia, DYT25 type

• Autosomal dominant form of benign neonatal seizures

• Autosomal dominant hereditary hemochromatosis

• Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons

• Autosomal dominant hidrotic ectodermal dysplasia

• Autosomal dominant hyper IgE syndrome

• Autosomal dominant intellectual disability 1

• Autosomal dominant intellectual disability 20

• Autosomal dominant intellectual disability 25

• Autosomal dominant intellectual disability 30

• Autosomal dominant intellectual disability 40

• Autosomal dominant intellectual disability 49

• Autosomal dominant intellectual disability 5

• Autosomal dominant intellectual disability-17

• Autosomal dominant intellectual disability-43

• Autosomal dominant intellectual disability-6

• Autosomal dominant intellectual disability-7

• Autosomal dominant intermediate Charcot-Marie-Tooth

• 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 Larsen syndrome

• Autosomal dominant late-onset retinal degeneration

• Autosomal dominant lateral temporal lobe epilepsy

• Autosomal dominant leukodystrophy with autonomic disease

• Autosomal dominant leukoencephalopathy with neuroaxonal spheroids

• 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 lower extremity-predominant spinal muscular atrophy-1

• Autosomal dominant medullary cystic kidney disease

• Autosomal dominant medullary cystic kidney disease (former)

• Autosomal dominant medullary cystic kidney disease type 2

• Autosomal dominant medullary cystic kidney disease type 2 (former)

• Autosomal dominant mental retardation 29

• Autosomal dominant methemoglobinemia

• Autosomal dominant microcephaly

• Autosomal dominant multiple pterygium syndrome

• Autosomal dominant nail dysplasia

• Autosomal dominant neuronal ceroid lipofuscinosis 4B

• Autosomal dominant nocturnal frontal lobe epilepsy

• Autosomal dominant nonnuclear polymorphic congenital cataract

• Autosomal dominant non-syndromic intellectual disability

• Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly

• Autosomal dominant Opitz G/BBB syndrome

• Autosomal dominant optic atrophy

• Autosomal dominant optic atrophy and cataract

• Autosomal dominant optic atrophy plus syndrome

• Autosomal dominant optic atrophy type 3

• Autosomal dominant optic atrophy, classic form

• Autosomal dominant osteopetrosis type 1

• Autosomal dominant osteopetrosis type 2

• Autosomal dominant osteosclerosis, Worth type

• Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia

• Autosomal dominant palmoplantar keratoderma and congenital alopecia

• Autosomal dominant Parkinson disease

• Autosomal dominant partial epilepsy with auditory features

• Autosomal dominant polycystic kidney disease - not a rare disease

• Autosomal dominant polycystic kidney disease

• Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias

• Autosomal dominant primary hypomagnesemia with hypocalciuria

• Autosomal dominant primary microcephaly

• Autosomal dominant pseudohypoaldosteronism type 1

• Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy

• Autosomal dominant retinoschisis

• Autosomal dominant severe congenital neutropenia

• Autosomal dominant SLC4A1-associated distal renal tubular acidosis

• Autosomal dominant sleep-related hypermotor epilepsy

• Autosomal dominant spastic paraparesis

• Autosomal dominant spastic paraplegia

• Autosomal dominant spastic paraplegia 4

• Autosomal dominant spastic paraplegia type 17

• Autosomal dominant spheroid body myopathy

• Autosomal dominant spinal muscular atrophy with lower extremity predominance

• Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1

• Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2

• Autosomal dominant spondyloepiphyseal dysplasia tarda

• Autosomal dominant thoracolaryngopelvic dysplasia

• Autosomal dominant torsion dystonia-4

• Autosomal dominant tubulointerstitial kidney disease

• Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations

• Autosomal dominant tubulointerstitial kidney disease due to REN mutations

• Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations

• Autosomal dominant tubulointerstitial kidney disease, MUC1-associated

• Autosomal dominant tubulointerstitial kidney disease, REN-related

• Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related

• Autosomal dominant type B hypercholesterolemia - not a rare disease

• Autosomal dominant vitreoretinochoroidopathy

• Autosomal recessive adducted thumb-club foot syndrome

• Autosomal recessive Alport syndrome

• Autosomal recessive ataxia Beauce type

• Autosomal recessive ataxia due to coenzyme Q10 deficiency

• Autosomal recessive ataxia due to ubiquinone deficiency

• Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K

• Autosomal recessive axonal CMT4C2

• Autosomal recessive axonal CMT4C4

• Autosomal recessive axonal neuropathy with neuromyotonia

• Autosomal recessive bestrophinopathy

• Autosomal recessive centronuclear myopathy

• Autosomal recessive cerebellar ataxia - blindness - deafness

• Autosomal recessive cerebellar ataxia type 2

• Autosomal recessive cerebellar ataxia-blindness-deafness syndrome

• Autosomal recessive cerebelloparenchymal disorder type 3

• Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia

• Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

• Autosomal recessive congenital hypomyelinating neuropathy

• Autosomal recessive deafness-onychodystrophy syndrome

• Autosomal recessive demyelinating Charcot-Marie-Tooth

• Autosomal recessive distal osteolysis syndrome

• Autosomal recessive distal renal tubular acidosis

• Autosomal recessive distal renal tubular acidosis with deafness

• Autosomal recessive distal renal tubular acidosis with hearing loss

• Autosomal recessive distal RTA

• Autosomal recessive dyskeratosis congenita

• 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 dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)

• Autosomal recessive early-onset IBD

• Autosomal recessive early-onset inflammatory bowel disease

• Autosomal recessive early-onset inflammatory bowel disease

• Autosomal recessive ectodermal dysplasia

• Autosomal recessive familial adenomatous polyposis

• Autosomal recessive form of cleidocranial dysostosis

• Autosomal recessive frontotemporal pachygyria

• Autosomal recessive hereditary thrombophilia due to protein C deficiency

• Autosomal recessive hyper IgE syndrome

• Autosomal recessive ichthyosis with hypotrichosis

• Autosomal recessive intellectual disability 58

• 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 isolated ectopia lentis

• Autosomal recessive juvenile Parkinson disease

• Autosomal recessive lethal chondrodystrophy with congenital hydrops

• Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency

• Autosomal recessive limb-girdle muscular dystrophy type 2C

• Autosomal recessive limb-girdle muscular dystrophy type 2I

• Autosomal recessive limb-girdle muscular dystrophy type 2J

• Autosomal recessive limb-girdle muscular dystrophy type 2K

• Autosomal recessive limb-girdle muscular dystrophy type 2L

• Autosomal recessive limb-girdle muscular dystrophy type 2M

• Autosomal recessive limb-girdle muscular dystrophy type 2N

• Autosomal recessive limb-girdle muscular dystrophy type 2O

• Autosomal recessive limb-girdle muscular dystrophy type 2P

• Autosomal recessive limb-girdle muscular dystrophy type 2Q

• Autosomal recessive limb-girdle muscular dystrophy type 2S

• Autosomal recessive limb-girdle muscular dystrophy type 2T

• Autosomal recessive Melnick-Needles syndrome (formerly)

• Autosomal recessive methemoglobinemia

• Autosomal recessive methemoglobinemia

• Autosomal recessive multiple colorectal adenomas

• Autosomal recessive multiple epiphyseal dysplasia

• Autosomal recessive multiple pterygium syndrome

• Autosomal recessive neuronal ceroid lipofuscinosis 4A

• Autosomal recessive non-lethal multiple pterygium syndrome

• Autosomal recessive nonsyndromic congenital nail disorder-4

• Autosomal recessive nonsyndromic congenital nuclear cataract

• Autosomal recessive nonsyndromic mental retardation-18

• Autosomal recessive Noonan syndrome

• Autosomal recessive optic atrophy plus syndrome

• Autosomal recessive optic atrophy type 3

• Autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy

• Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia

• Autosomal recessive osteopetrosis type 1

• Autosomal recessive osteopetrosis type 2

• Autosomal recessive osteopetrosis type 3

• Autosomal recessive osteopetrosis type 4

• Autosomal recessive osteopetrosis type 5

• Autosomal recessive osteopetrosis type 6

• Autosomal recessive osteopetrosis type 7

• Autosomal recessive palmoplantar keratoderma and congenital alopecia

• Autosomal recessive Parkinson disease 9

• Autosomal recessive polycystic kidney disease

• Autosomal recessive primary microcephaly

• Autosomal recessive progressive external ophthalmoplegia

• Autosomal recessive protein C deficiency

• Autosomal recessive pseudohypoaldosteronism type 1

• Autosomal recessive sensorineural hearing impairment and goiter

• Autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia

• Autosomal recessive spastic ataxia - optic atrophy - dysarthria

• Autosomal recessive spastic ataxia 4

• Autosomal recessive spastic ataxia of Charlevoix-Saguenay

• Autosomal recessive spastic ataxia type 4

• Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

• Autosomal recessive spastic paraplegia

• Autosomal recessive spastic paraplegia 51

• Autosomal recessive spastic paraplegia type 11

• Autosomal recessive spastic paraplegia type 20

• Autosomal recessive spastic paraplegia type 23

• Autosomal recessive spastic paraplegia type 32

• Autosomal recessive spastic paraplegia type 49

• Autosomal recessive spastic paraplegia-49

• autosomal recessive spinocerebellar ataxia 8

• Autosomal recessive spinocerebellar ataxia 9

• Autosomal recessive spinocerebellar ataxia type 3

• Autosomal recessive spinocerebellar ataxia type 9

• Autosomal recessive spinocerebellar ataxia-1

• Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

• Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome

• Autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes

• Autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia

• Autosomal recessive thrombophilia due to congenital protein C deficiency

• Autosomal recessive thrombophilia due to congenital protein C deficiency

• Autosomal recessive thrombophilia due to PC deficiency

• Autosomal recessive thrombophilia due to PC deficiency

• Autossomal dominant café-au-lait spots

• AUTS14B

• Avascular necrosis of the metacarpal head

• AVED

• Avellino corneal dystrophy

• AVMD

• Axenfeld-Rieger syndrome

• Axial mesodermal dysplasia spectrum

• Axial osteomalacia

• Axial osteosclerosis

• Axial SMD

• Axial spondylometaphyseal dysplasia

• Axonal Charcot-Marie-Tooth disease with pyramidal involvement

• Axonal neuropathy with palmoplantar keratoderma

• AXPC1

• Ayazi syndrome

• AZOOR

• Azoospermia obstructive and chronic sinopulmonary infections

• Azoospermia-sinopulmonary infections syndrome

• Azorean neurologic disease

• Azul

NIH genetic and rare disease info

• NIH info on List of rare diseases-A

List of rare diseases-A is a rare disease.