Rare Diseases and Related Terms
Rare diseases terms are either (1) terms for which information requests have
been made to the Office of Rare Diseases Research, the Genetic and Rare Diseases
Information Center, or the National Human Genome Research Institute; or (2)
diseases that have been suggested as being rare. The purpose of the Rare
Diseases and Related Terms list is to distribute information; although the list
is updated regularly, it should not be used as a reference or guarantee that a
condition is rare. The prevalence of a rare disease is usually an estimate and
may change over time. A rare (or orphan) disease is generally considered to have
a prevalence of fewer than 200,000 affected individuals in the United States.
Certain diseases with 200,000 or more affected individuals may be included in
this list if certain subpopulations of people who have the disease are equal to
the prevalence standard for rare diseases. We welcome suggestions for additions
to or deletions from the list. Your recommendations may be sent via e-mail to
ord@od.nih.gov
Browse by Condition
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Aagenaes syndrome
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Aarskog syndrome
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Aase Smith syndrome
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Aase syndrome
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ABCD syndrome
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Abderhalden-Kaufmann-Lignac syndrome
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Abdominal aortic aneurysm
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Abdominal chemodectomas with cutaneous angiolipomas
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Abdominal cystic lymphangioma
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Abdominal obesity metabolic syndrome
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Aberrant subclavian artery
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Abetalipoproteinemia
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Abidi X-linked mental retardation syndrome
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Ablepharon macrostomia syndrome
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Abrikosov's tumor
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Abruzzo Erickson syndrome
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Absence defect of limbs, scalp, and skull
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Absence of Gluteal muscle
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Absence of septum pellucidum
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Absence of Tibia
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Absence of tibia with polydactyly
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Absent abdominal musculature with microphthalmia and joint laxity
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Absent breasts and nipples
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Absent corpus callosum cataract immunodeficiency
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Absent duct of Santorini
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Absent patella
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Absent T lymphocytes
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Abuse dwarfism syndrome
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Acalvaria
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Acanthamoeba infection
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Acanthocheilonemiasis
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Acanthocytosis
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Acanthokeratodermia
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Acanthoma
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Acanthosis nigricans
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Acanthosis nigricans muscle cramps acral enlargement
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Acardia
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Acatalasemia
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Accessory deep peroneal nerve
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Accessory navicular bone
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Accessory pancreas
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Aceruloplasminemia
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Acetylcarnitine deficiency
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Acetyl-coa acetyltransferase 2 deficiency
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Achalasia
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Achalasia Addisonianism Alacrimia syndrome
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Achalasia alacrimia syndrome
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Achalasia microcephaly
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Achalasia, familial esophageal
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Achard syndrome
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Achard-Thiers syndrome
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Acheiropodia
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Achondrogenesis type 1A
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Achondrogenesis type 1B
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Achondrogenesis type 2
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Achondrogenesis type 3
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Achondrogenesis type 4
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Achondroplasia
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Achondroplasia and Swiss type agammaglobulinemia
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Achromatopsia
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Achromatopsia 1
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Achromatopsia 2
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Achromatopsia 3
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Achromatopsia incomplete, X-linked
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Acidemia, isovaleric
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Acinic cell carcinoma
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Acitretin embryopathy
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Ackerman syndrome
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Acoustic neuroma
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Acquired agranulocytosis
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Acquired amegakaryocytic thrombocytopenia
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Acquired angioedema
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Acquired hemophilia
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Acquired hypoprothrombinemia
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Acquired ichthyosis
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Acquired prothrombin deficiency
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Acquired pure megakaryocytic aplasia
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Acral dysostosis dyserythropoiesis
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Acral lentiginous melanoma
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Acro coxo mesomelic dysplasia
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Acrocallosal syndrome, Schinzel type
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Acrocephalopolydactyly
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Acrocephaly pulmonary stenosis mental retardation
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Acrodermatitis
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Acrodermatitis enteropathica
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Acrodysostosis
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Acrodysplasia scoliosis
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Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
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Acrofacial dysostosis 1, Nager type
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Acrofacial dysostosis ambiguous genitalia
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Acrofacial dysostosis atypical postaxial
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Acrofacial dysostosis Catania form
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Acrofacial dysostosis Preis type
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Acrofacial dysostosis Rodriguez type
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Acrofacial dysostosis, Palagonia type
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Acrofrontofacionasal dysostosis syndrome
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Acrogeria, gottron type
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Acrokeratoelastoidosis of Costa
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Acromegaloid changes, cutis verticis gyrata and corneal leukoma
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Acromegaloid facial appearance syndrome
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Acromegaloid features, overgrowth, cleft palate, and hernia
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Acromegaloid hypertrichosis syndrome
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Acromegaly
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Acromelic frontonasal dysplasia
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Acromesomelic dysplasia
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Acromesomelic dysplasia Campailla Martinelli type
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Acromesomelic dysplasia Hunter Thompson type
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Acromesomelic dysplasia, Maroteaux type
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Acromicric dysplasia
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Acroosteolysis dominant type
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Acropectoral syndrome
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Acropectorenal field defect
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Acropectorovertebral dysplasia
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Acrorenal mandibular syndrome
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Acrorenal syndrome recessive
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Acrospiroma
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ACTH deficiency
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ACTH resistance
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Actinic cheilitis
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Actinomycetales infection
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Acutane embryopathy
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Acute articular rheumatism
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Acute biphenotypic leukemia
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Acute cholinergic dysautonomia
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Acute disseminated encephalomyelitis
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Acute erythroblastic leukemia
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Acute erythroleukemia
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Acute fatty liver of pregnancy
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Acute hemorrhagic leukoencephalitis
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Acute idiopathic polyneuritis
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Acute intermittent porphyria
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Acute lymphoblastic leukemia
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Acute lymphoblastic leukemia congenital sporadic aniridia
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Acute lymphoblastic leukemia, Childhood
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Acute megakaryoblastic leukemia
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Acute monoblastic leukemia
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Acute mountain sickness
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Acute myeloblastic leukemia type 1
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Acute myeloblastic leukemia type 2
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Acute myeloblastic leukemia type 3
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Acute myeloblastic leukemia type 4
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Acute myeloblastic leukemia type 5
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Acute myeloblastic leukemia type 6
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Acute myeloblastic leukemia type 7
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Acute myeloblastic leukemia with maturation
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Acute myeloblastic leukemia without maturation
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Acute myelocytic leukemia
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Acute myeloid leukemia, adult
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Acute myeloid leukemia, childhood
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Acute myelomonocytic leukemia
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Acute necrotizing ulcerative gingivitis
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Acute non lymphoblastic leukemia (generic term)
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Acute posterior multifocal placoid pigment
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Acute promyelocytic leukemia
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Acute respiratory distress syndrome
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Acute zonal occult outer retinopathy
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Acyl-CoA oxidase deficiency
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Adactylia unilateral dominant
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Adams Nance syndrome
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Adams Oliver syndrome
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Addison's disease
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Adducted thumb and clubfoot syndrome
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Adducted thumb syndrome recessive form
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Adducted thumbs Dundar type
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Adenine phosphoribosyltransferase deficiency
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Adenoameloblastoma
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Adenocarcinoid tumor
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Adenocarcinoma of lung
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Adenoid cystic carcinoma
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Adenoma of the adrenal gland
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Adenomyosis
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Adenosarcoma of the uterus
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Adenosine deaminase deficiency
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Adenosine monophosphate deaminase deficiency
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Adenosine triphosphatase deficiency, anemia due to
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Adenylosuccinate lyase deficiency
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Adie syndrome
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Adiposis dolorosa
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Adnexal, spiradenoma/cylindroma, of a sweat gland
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Adrenal adenoma, familial
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Adrenal cancer
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Adrenal gland hyperfunction
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Adrenal gland hypofunction
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Adrenal hyperplasia
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Adrenal hyperplasia 2
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Adrenal hyperplasia congenital type 5
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Adrenal hypertension
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Adrenal incidentaloma
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Adrenal macropolyadenomatosis
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Adrenal medulla neoplasm
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Adrenocortical carcinoma
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Adrenoleukodystrophy, autosomal, neonatal form
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Adrenomyodystrophy
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Adult low grade infiltrative supratentorial Astrocytoma Oligodendroglioma
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Adult onset angioedema
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Adult onset Still's disease
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Adult progressive spinal muscular atrophy Aran Duchenne type
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Adult spinal muscular atrophy
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ADULT syndrome
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Adult-onset citrullinemia type 2
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Advanced sleep phase syndrome, familial
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Aerobic actinomyces infection
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Afibrinogenemia
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Agammaglobulinemia X-linked type 2
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Agammaglobulinemia, microcephaly, and severe dermatitis
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Agammaglobulinemia, non-Bruton type
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Aganglionosis, total intestinal
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AGAT deficiency
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Aggressive fibromatosis
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Aggressive systemic mastocytosis
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Aglossia and Situs Inversus
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Agnathia-microstomia-synotia
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Agnosia
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Agyria pachygyria polymicrogyria
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Agyria-pachygyria type 1
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Ahumada-Del Castillo syndrome
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Aicardi syndrome
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Aicardi-Goutieres syndrome
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Aicardi-Goutieres syndrome 5
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AIDS Dementia Complex
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AIDS dysmorphic syndrome
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Ainhum
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Akaba Hayasaka syndrome
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Akesson syndrome
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Aksu von Stockhausen syndrome
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Al Awadi syndrome
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Al Gazali Aziz Salem syndrome
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Al Gazali Donnai Mueller syndrome
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Al Gazali Hirschsprung syndrome
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Al Gazali Khidr Prem Chandran syndrome
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Al Gazali Sabrinathan Nair syndrome
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Alagille syndrome
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Albers-Schonberg disease
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Albinism
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Albinism deafness syndrome
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Albinism immunodeficiency
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Albinism ocular late onset sensorineural deafness
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Albinism, minimal pigment type
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Albrecht Schneider Belmont syndrome
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Albright like syndrome
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Albright's hereditary osteodystrophy
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Alcohol antenatal infection
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Aldolase A deficiency
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Aldred syndrome
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Aleukemic leukemia cutis
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Alexander disease
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Al-gazali syndrome
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Alkaptonuria
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Allain Babin Demarquez syndrome
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Allan-Herndon-Dudley syndrome
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Allanson Pantzar McLeod syndrome
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Allergic angiitis
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Allergic autoimmune thyroiditis
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Allergic bronchopulmonary aspergillosis
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Allergic encephalomyelitis
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Aloi Tomasini Isaia syndrome
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Alopecia congenita keratosis palmoplantaris
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Alopecia contractures dwarfism mental retardation
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Alopecia epilepsy oligophrenia syndrome of Moynahan
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Alopecia immunodeficiency
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Alopecia macular degeneration growth retardation
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Alopecia mental retardation hypogonadism
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Alopecia mental retardation syndrome
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Alopecia totalis
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Alopecia universalis
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Alopecia universalis onychodystrophy vitiligo
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Alopecia, epilepsy, pyorrhea, mental subnormality
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Alpers disease
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Alpers syndrome
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Alpha 1-antitrypsin deficiency
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Alpha mannosidosis type 2
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Alpha-2 deficient collagen disease
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Alpha-ketoglutarate dehydrogenase deficiency
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Alpha-mannosidosis type 1
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Alpha-Thalassemia
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Alpha-thalassemia-abnormal morphogenesis
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Alport syndrome
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Alport syndrome, dominant type
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Alport syndrome, recessive type
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Alsing syndrome
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Alstrom syndrome
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Alternating hemiplegia of childhood
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Aluminium lung
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Alveolar capillary dysplasia
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Alveolar echinococcosis
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Alveolar soft part sarcoma
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Alveolitis, extrinsic allergic
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Alves Castelo dos Santos syndrome
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Alzheimer disease type 1
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Alzheimer disease type 2
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Alzheimer disease type 4
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Alzheimer disease, familial
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Alzheimer disease, familial, type 3
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Alzheimer's disease without Neurofibrillary tangles
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Amastia
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Amaurosis congenita of Leber
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Amaurosis congenita of Leber, type 1
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Amaurosis congenita of Leber, type 2
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Amaurosis congenita of Leber, type 5
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Amaurosis congenita of Leber, type 9
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Amaurosis fugax
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Amaurosis hypertrichosis
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Ambras syndrome
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Amebiasis
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Amelia cleft lip palate hydrocephalus iris coloboma
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Amelogenesis imperfecta
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Amelogenesis Imperfecta hypomaturation type
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Amelogenesis imperfecta local hypoplastic form
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Amelogenesis imperfecta nephrocalcinosis
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Amelogenesis imperfecta pigmented hypomaturation type
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Amelogenesis imperfecta, hypoplastic type, IG
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Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1
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Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
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Ameloonychohypohidrotic syndrome
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Aminoacidopathies
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Aminoaciduria
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Aminoacylase 1 deficiency
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Amish lethal microcephaly
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Amniotic band syndrome
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Ampola syndrome
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Amyloid angiopathy
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Amyloid Neuropathies
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Amyloid polyneuropathy, transthyretin related
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Amyloidosis
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Amyloidosis of gingiva and conjunctiva mental retardation
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Amyloidosis, familial visceral
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Amyopathic dermatomyositis
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Amyoplasia
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Amyoplasia mandibulofacial dysostosis
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Amyotonia congenita
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Amyotrophic lateral sclerosis
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Amyotrophic lateral sclerosis type 2
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Amyotrophic lateral sclerosis, type 6
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Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
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Amyotrophy, monomelic
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Amyotrophy, neurogenic scapuloperoneal, New England type
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Anal cancer
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Anal sphincter dysplasia
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Anaplastic large cell lymphoma
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Anaplastic small cell lymphoma
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Anauxetic dysplasia
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Ancylostoma duodenale
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Andersen Tawil syndrome
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Androgen insensitivity syndrome
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Androgen insensitivity syndrome, partial
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Androgenetic alopecia
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Anemia, Diamond-Blackfan, 2
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Anemia, Diamond-Blackfan, 3
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Anemia, hereditary spherocytic hemolytic
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Anemia, hypochromic microcytic
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Anemia, Hypoplastic, Congenital
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Anemia, Sideroblastic
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Anemia, sideroblastic spinocerebellar ataxia
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Anencephaly
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Anencephaly and spina bifida X-linked
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Aneuploidy
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Aneurysm of sinus of Valsalva
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Aneurysm, intracranial berry, 2
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Aneurysmal bone cysts
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Angel shaped phalangoepiphyseal dysplasia
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Angelman syndrome
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Angiofollicular ganglionic hyperplasia
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Angiofollicular lymph hyperplasia
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Angioimmunoblastic with dysproteinemia lymphadenopathy
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Angiokeratoma mental retardation coarse face
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Angioma hereditary neurocutaneous
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Angioma serpiginosum, autosomal dominant
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Angioma serpiginosum, X-linked
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Angiomatosis encephalotrigeminal
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Angiomatosis leptomeningeal capillary - venous
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Angiomatosis systemic cystic Seip syndrome
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Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert
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Angiomyomatous Hamartoma
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Angiosarcoma of the breast
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Angiosarcoma of the liver
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Angiosarcoma of the scalp
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Angiostrongyliasis
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Angiotensin renin aldosterone hypertension
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Anguillulosis
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Aniridia
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Aniridia absent patella
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Aniridia ataxia renal agenesis psychomotor retardation
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Aniridia cerebellar ataxia mental deficiency
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Aniridia mental retardation syndrome
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Aniridia ptosis mental retardation obesity familial
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Aniridia renal agenesis psychomotor retardation
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Aniridia, sporadic
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Aniridia, type 2
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Anisakiasis
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Ankle defects short stature
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Ankyloblepharon filiforme adnatum cleft palate
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Ankyloblepharon filiforme imperforate anus
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Ankyloglossia heterochromia clasped thumbs
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Ankylosing spondylarthritis
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Ankylosis of teeth
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Ankylostomiasis
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Annular constricting bands
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Annular pancreas
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Annuloaortic ectasia
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Anodontia
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Anonychia congenita
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Anonychia ectrodactyly
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Anonychia microcephaly
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Anonychia onychodystrophy
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Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
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Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
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Anophthalmia cleft lip palate hypothalamic disorder
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Anophthalmia cleft palate micrognathia
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Anophthalmia esophageal atresia cryptorchidism
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Anophthalmia megalocornea cardiopathy skeletal anomalies
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Anophthalmia microcephaly hypogonadism
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Anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies
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Anophthalmia plus syndrome
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Anophthalmia short stature obesity
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Anophthalmia with pulmonary hypoplasia
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Anophthalmos with limb anomalies
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Anorchia
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Anorectal atresia
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Anotia facial palsy cardiac defect
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Ansell Bywaters Elderking syndrome
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Anterior horn disease
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Anterior pituitary insufficiency, familial
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Anterior polar cataract 2
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Anterior segment mesenchymal dysgenesis
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Anterior spinal artery stroke
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Anthrax
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Anti-factor 8 autoimmunization
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Antigen-peptide-transporter 2 deficiency
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Anti-HLA hyperimmunization
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Antihypertensive drugs antenatal infection
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Antiphospholipid syndrome
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Anti-plasmin deficiency, congenital
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Antisocial personality disorder
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Antisynthetase syndrome
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Antithrombin deficiency type 2
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Antithrombin deficiency, congenital
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Antley-Bixler syndrome
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Anton's syndrome
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Aorta-pulmonary artery fistula
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Aortic aneurysm, familial thoracic 3
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Aortic aneurysm, familial thoracic 4
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Aortic arch anomaly with peculiar facies and mental retardation
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Aortic arch interruption
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Aortic arches defect
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Aortic coarctation
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Aortic dissection lentiginosis
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Aortic supravalvular stenosis
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Aortic valve stenosis
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Aortic valves stenosis of the child
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Aortic window
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Apert like polydactyly syndrome
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Apert syndrome
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Aphakia, congenital primary
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Aphalangia syndactyly microcephaly
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Aphthous stomatitis
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Aplasia cutis autosomal recessive
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Aplasia cutis congenita
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Aplasia cutis congenita dominant
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Aplasia cutis congenita epibulbar dermoids
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Aplasia cutis congenita intestinal lymphangiectasia
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Aplasia cutis congenita of limbs recessive
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Aplasia cutis congenita recessive
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Aplasia cutis myopia
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Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails
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Aplastic anemia
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Apo A-I deficiency
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Apolipoprotein C 2I deficiency
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Apparent mineralocorticoid excess
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Apraxia
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Apraxia manual
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Apraxia, oculomotor, Cogan type
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APUDoma
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Aquagenic pruritus
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Arachindonic acid, absence of
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Arachnodactyly ataxia cataract aminoaciduria mental retardation
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Arachnodactyly mental retardation dysmorphism
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Arachnoid cyst
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Arachnoiditis
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Arakawa syndrome 1
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Arakawa's syndrome 2
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Arbovirosis
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AREDYLD
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Arena syndrome
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Arginase deficiency
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Argininosuccinic aciduria
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Arhinia, choanal atresia, and microphthalmia
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Arima syndrome
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Arnold Stickler Bourne syndrome
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Arnold-Chiari malformation
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Arnold-Chiari malformation type 1
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Arnold-Chiari malformation type 2
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Arnold-Chiari malformation type 3
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Arnold-Chiari malformation type 4
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Aromatase deficiency
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Aromatic amino acid decarboxylase deficiency
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Arrhinia
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Arrhythmogenic right ventricular dysplasia
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Arroyo Garcia Cimadevilla syndrome
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Arterial calcification of infancy
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Arterial dysplasia
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Arterial tortuosity
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Arthritis short stature deafness
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Arthrogryposis and ectodermal dysplasia
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Arthrogryposis due to muscular dystrophy
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Arthrogryposis epileptic seizures migrational brain disorder
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Arthrogryposis IUGR thoracic dystrophy
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Arthrogryposis like disorder
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Arthrogryposis multiplex congenita (AMC)
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Arthrogryposis multiplex congenita CNS calcification
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Arthrogryposis multiplex congenita distal
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Arthrogryposis multiplex congenita neurogenic type
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Arthrogryposis multiplex congenita pulmonary hypoplasia
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Arthrogryposis multiplex congenita type 2B
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Arthrogryposis multiplex congenita whistling face
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Arthrogryposis multiplex congenita, distal type 1
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Arthrogryposis multiplex congenita, distal type 2
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Arthrogryposis multiplex congenita, distal, X-linked
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Arthrogryposis multiplex with deafness, inguinal hernias, and early death
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Arthrogryposis ophthalmoplegia retinopathy
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Arthrogryposis renal dysfunction cholestasis syndrome
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Arthrogryposis spinal muscular atrophy
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Arthrogryposis, distal, type 2b
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Arthrogryposis, distal, type 2E
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Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
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Arthrogryposis-like hand anomaly and sensorineural deafness
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Arthropathy, progressive pseudorheumatoid, of childhood
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Arts syndrome
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Asbestosis
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Ascher's Syndrome
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Asherman's syndrome
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Aspartylglycosaminuria
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Aspergillosis
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Aspergillus niger infection
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Asphyxia neonatorum
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Asrar Facharzt Haque syndrome
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Asternia
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Asternia with Cardiac, Diaphragmatic, and Abdominal defects
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Asthenia
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Astley-Kendall syndrome
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Astrocytoma
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Asymmetric septal hypertrophy
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Ataxia telangiectasia variant V1
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Ataxia with vitamin E deficiency
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Ataxia-deafness syndrome
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Ataxia-Telangiectasia
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Atelosteogenesis type 2
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Atelosteogenesis, type 1
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Athabaskan brainstem dysgenesis
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Athetosis
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Atkin syndrome
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Atlanto-Axial Fusion
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Atransferrinemia
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Atresia of small intestine
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Atrial fibrillation, familial 1
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Atrial myxoma, familial
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Atrial septal defect 2
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Atrioventricular septal defect
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Atrophoderma of Pierini and Pasini
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Atrophodermia vermiculata
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ATR-X syndrome
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Attenuated FAP
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Atypical hemolytic uremic syndrome
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Atypical lipodystrophy
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Atypical mole syndrome
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Atypical mycobacteriosis, familial
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Auditory neuropathy
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Auditory perceptual disorder
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Aughton syndrome
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Auralcephalosyndactyly
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Auriculo-condylar syndrome
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Auriculoosteodysplasia
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Ausems Wittebol-Post Hennekam syndrome
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Autism with port-wine stain
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Autoimmune enteropathy
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Autoimmune hemolytic anemia
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Autoimmune hepatitis
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Autoimmune Inner Ear disease
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Autoimmune lymphoproliferative syndrome
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Autoimmune myocarditis
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Autoimmune oophoritis
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Autoimmune peripheral neuropathy
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Autoimmune polyendocrinopathy syndrome, type 1
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Autoimmune progesterone dermatitis
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Autosomal dominant compelling helio ophthalmic outburst syndrome
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Autosomal dominant partial epilepsy with auditory features
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Autosomal recessive cerebellar ataxia with cabc1/adck3 gene mutations
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Autosomal recessive nonsyndromic congenital nuclear cataract
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Autosomal recessive polycystic kidney disease (ARPKD)
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Avasthey syndrome
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Axenfeld Rieger syndrome
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Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss
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Axial mesodermal dysplasia spectrum
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Axial osteomalacia
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Axial osteosclerosis
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Ayazi syndrome
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