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YOUR source for SINGLE custom awareness ribbons. Personalized awareness ribbons engraved with name, date, logo. Large selection of cancer ribbons.

Rare Diseases Ribbons

Rare Diseases Blue Jeans Awareness Ribbons

Zebra Awareness Ribbons for Rare Diseases

Our custom zebra awareness ribbons and non-personalized zebra awareness ribbons also support our list of Rare Diseases. As you see on our site, rare diseases also use the blue denim ribbon. Prior to the use of blue jeans awareness ribbons, zebra awareness ribbons represented rare diseases. Rare diseases use a zebra stripe awareness ribbon because of the medical expression “When you hear hoof beats, think horses not zebras” in looking for a common diagnosis versus a rare one.

Our Rare Diseases and Disorders list is extensive to include often under-funded, unknown diseases and disorders that need equal attention to those that receive a great deal of funding and recognition. Sometimes you will see a Rare Disease listed in several places on our website, and one may be associated with a color other than the Blue Jeans awareness ribbon or the zebra awareness ribbon. This is because often times a group has designated a color for a Rare Disease itself rather than the entire category. Feel free to use the image or color that best reflects your efforts to raise awareness.

Source: https://rarediseases.info.nih.gov/

Blue Jeans Awareness Ribbon for Rare Diseases as Designated by Global Genes®

Our Custom Blue Jeans awareness ribbons and non-personalized Blue Jeans awareness ribbons support this list of Rare Diseases as designated by Global Genes®. This list is extensive to include often under-funded, unknown diseases and disorders that need equal attention to those that receive a great deal of funding and recognition. Sometimes you will see a Rare Disease listed in two places on our website, and one may be associated with a color other than the Blue Jeans awareness ribbon. This is because often times a group has designated a color for a Rare Disease prior to the Blue Jeans awareness ribbon being designated for the entire category of causes.

According to Global Genes®, rare diseases affect 1 in 10 Americans, 30 million people in the United States, and 350 million people globally. Over 7,000 distinct rare diseases exist and approximately 80 percent are caused by faulty genes. The National Institutes of Health (NIH) estimates that 50% of people affected by rare diseases are children, making rare diseases one of the most deadly and debilitating for children worldwide.

How many rare diseases are there?
There may be as many as 7,000 rare diseases. The total number of Americans living with a rare disease is estimated at between 25-30 million. This estimate has been used by the rare disease community for several decades to highlight that while individual diseases may be rare, the total number of people with a rare disease is large.

In the United States, only a few types of rare diseases are tracked when a person is diagnosed. These include certain infectious diseases, birth defects, and cancers. It also includes the diseases on state newborn screening tests. Because most rare diseases are not tracked, it is hard to determine the exact number of rare diseases or how many people are affected.

While individual rare diseases have small patient populations, collectively the rare disease community is larger than the AIDS and Cancer communities combined. Despite its size, the community lacks a unified voice, as only 15% of rare diseases have organizations or foundations providing support or driving research.

It is estimated that 95% of all rare diseases do not have a single FDA approved drug treatment, and there are currently less than 400 treatments approved by the FDA for the nearly 7000 rare diseases which have been identified. According to estimates from the NIH, it will take 10,000 years at the current rate of FDA drug approvals to find therapies for all people suffering from rare diseases.

Support the Global Genes® movement today by getting involved.

Source: https://globalgenes.org/
Source: https://rarediseases.info.nih.gov/

Rare Diseases Ribbons

# - Rare Diseases
11-beta-hydroxylase deficiency
15q13.3 microdeletion syndrome
16p11.2 deletion syndrome
17-alpha-hydroxylase deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency
17q21.31 microdeletion syndrome
18 Hydroxylase deficiency
1q21.1 microdeletion syndrome
2 4-Dienoyl-CoA reductase deficiency
2-hydroxyethyl methacrylate sensitization
2-Hydroxyglutaric aciduria
2-methyl-3-hydroxybutyric aciduria
2-Methylacetoacetyl CoA thiolase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency
21-hydroxylase deficiency
22q11.2 deletion syndrome
22q11.2 duplication syndrome
22q13.3 deletion syndrome
2q37 deletion syndrome
3 alpha methylcrotonyl-CoA carboxylase 2 deficiency
3 Methylcrotonyl-CoA carboxylase 1 deficiency
3 methylglutaconic aciduria type I
3 methylglutaconic aciduria type IV
3 methylglutaconic aciduria type V
3-alpha hydroxyacyl-CoA dehydrogenase deficiency
3-beta-hydroxysteroid dehydrogenase deficiency
3-Hydroxyisobutyric aciduria
3-methylglutaconic aciduria type III
3p deletion syndrome
4-hydroxyphenylacetic aciduria
46 XX Gonadal dysgenesis epibulbar dermoid
46 XX testicular disorder of sex development
47 XXX syndrome
47 XYY syndrome
49 XXXXX syndrome
49 XXXXY syndrome
5-Nucleotidase syndrome
5-oxoprolinase deficiency
5q- syndrome
6 alpha mercaptopurine sensitivity
6-pyruvoyl-tetrahydropterin synthase deficiency
8p23.1 duplication syndrome

A - B Rare Diseases

Aagenaes syndrome
Aarskog syndrome
Aase Smith syndrome
ABCD syndrome
Abderhalden Kaufmann Lignac syndrome
Abdominal aortic aneurysm
Abdominal chemodectomas with cutaneous angiolipomas
Abdominal cystic lymphangioma
Abdominal obesity metabolic syndrome
Aberrant subclavian artery
Abetalipoproteinemia
Abidi X-linked mental retardation syndrome
Ablepharon macrostomia syndrome
Abrikosov's tumor
Abruzzo Erickson syndrome
Absence of fingerprints congenital milia
Absence of gluteal muscle
Absence of septum pellucidum
Absence of Tibia
Absence of tibia with polydactyly
Absent breasts and nipples
Absent corpus callosum cataract immunodeficiency
Absent patella
Absent T lymphocytes
Abuse dwarfism syndrome
Acalvaria
Acanthamoeba infection
Acanthocheilonemiasis
Acanthocytosis
Acanthoma
Acanthosis nigricans
Acanthosis nigricans muscle cramps acral enlargement
Acardia
Acatalasemia
Accessory deep peroneal nerve
Accessory pancreas
ACDC
Aceruloplasminemia
Acetyl CoA acetyltransferase 2 deficiency
Acetyl-carnitine deficiency
Achalasia
Achalasia microcephaly syndrome
Achalasia familial esophageal
Achard syndrome
Achard Thiers syndrome
Acheiropody
Achondrogenesis
Achondrogenesis Kozlowski type
Achondrogenesis type 1A
Achondrogenesis type 1B
Achondrogenesis type 2
Achondrogenesis type 3
Achondrogenesis type 4
Achondroplasia
Achondroplasia and severe combined immunodeficiency
Achondroplasia and Swiss type agammaglobulinemia
Achromatopsia 2
Achromatopsia 3
Achromatopsia incomplete X-linked
Acinic cell carcinoma
Acitretin embryopathy
Ackerman syndrome
Acoustic neuroma
Acquired agranulocytosis
Acquired angioedema Acquired fructose intolerance Acquired hemophilia
Acquired hypoprothrombinemia
Acquired Von Willebrand syndrome
Acral dysostosis dyserythropoiesis syndrome
Acral lentiginous melanoma
Acro coxo mesomelic dysplasia
Acro-pectoro-renal field defect
Acrocallosal syndrome Schinzel type b
Acrocapitofemoral dysplasia
Acrocephalopolydactylous dysplasia
Acrocephalopolydactyly
Acrocephaly pulmonary stenosis mental retardation
Acrodermatitis
Acrodermatitis enteropathica
Acrodysostosis
Acrodysplasia scoliosis
Acrodysplasia with ossification abnormalities short stature and fibular hypoplasia
Acrofacial dysostosis ambiguous genitalia
Acrofacial dysostosis atypical postaxial
Acrofacial dysostosis Catania type
Acrofacial dysostosis Palagonia type
Acrofacial dysostosis Preis type
Acrofacial dysostosis Rodriguez type
Acrofrontofacionasal dysostosis syndrome
Acrogeria Gottron type
Acrokeratoelastoidosis of Costa
Acromegaloid changes cutis verticis gyrata and corneal leukoma
Acromegaloid facial appearance syndrome
Acromegaloid features overgrowth cleft palate and hernia
Acromegaloid hypertrichosis syndrome
Acromegaly
Acromelanosis
Acromelic frontonasal dysostosis
Acromesomelic dysplasia
Acromesomelic dysplasia Campailla Martinelli type
Acromesomelic dysplasia Hunter Thompson type
Acromesomelic dysplasia Maroteaux type
Acromicric dysplasia
Acroosteolysis dominant type
Acroosteolysis with osteoporosis and changes in skull and mandible
Acropectoral syndrome
Acropectorovertebral dysplasia F form
Acrorenal mandibular syndrome
Acrorenal syndrome recessive
Acrospiroma
ACTH deficiency
ACTH resistance
ACTH-independent macronodular adrenal hyperplasia
Actinic cheilitis
Actinomycosis
Acute articular rheumatism
Acute biphenotypic leukemia
Acute cholinergic dysautonomia
Acute disseminated encephalomyelitis
Acute erythroblastic leukemia
Acute erythroleukemia
Acute fatty liver of pregnancy
Acute hemorrhagic leukoencephalitis
Acute idiopathic polyneuritis
Acute intermittent porphyria
Acute lymphoblastic leukemia
Acute lymphoblastic leukemia congenital sporadic aniridia
Acute lymphoblastic leukemia childhood
Acute megakaryoblastic leukemia
Acute monoblastic leukemia
Acute mountain sickness
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 6
Acute myeloblastic leukemia type 7
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelocytic leukemia
Acute myeloid leukemia adult
Acute myeloid leukemia childhood
Acute myelomonocytic leukemia
Acute necrotizing ulcerative gingivitis
Acute non lymphoblastic leukemia
Acute promyelocytic leukemia
Acute respiratory distress syndrome
Acute zonal occult outer retinopathy
Acyl-CoA oxidase deficiency
Adactylia unilateral
Adams Oliver syndrome
Addison's disease
Adducted thumb and clubfoot syndrome
Adducted thumb syndrome recessive form
Adducted thumbs Dundar type
Adenine phosphoribosyltransferase deficiency
Adenoameloblastoma
Adenocarcinoid tumor
Adenocarcinoma of lung
Adenocarcinoma of the appendix
Adenoid cystic carcinoma
Adenoma of the adrenal gland
Adenomyosis
Adenosarcoma of the uterus
Adenosine deaminase deficiency
Adenosine monophosphate deaminase 1 deficiency
Adenosylhomocysteine hydrolase deficiency
Adenylosuccinase deficiency
Adie syndrome
Adiposis dolorosa
Adnexal spiradenoma/cylindroma of a sweat gland
Adrenal adenoma familial
Adrenal cancer
Adrenal medulla cancer
Adrenocortical carcinoma
Adrenoleukodystrophy X-linked
Adrenomyeloneuropathy
Adrenomyodystrophy
Adult onset angioedema
Adult progressive spinal muscular atrophy Aran Duchenne type
ADULT syndrome
Adult-onset citrullinemia type II
Advanced sleep phase syndrome familial
Aerobic actinomyces infection
Afibrinogenemia
Agammaglobulinemia X-linked type 2
Agammaglobulinemia microcephaly and severe dermatitis
Agammaglobulinemia non-Bruton type
Aganglionosis total intestinal
AGAT deficiency
Agenesis of the dorsal pancreas
Aggressive NK cell leukemia
Aglossia and Situs Inversus
Agnathia-microstomia-synotia
Agnosia
Agyria pachygyria polymicrogyria
Agyria-pachygyria type 1
Ahumada Del Castillo syndrome
Aicardi syndrome
Aicardi-Goutieres syndrome
Aicardi-Goutieres syndrome 5
AIDS Dementia Complex
AIDS dysmorphic syndrome
Ainhum
Akaba Hayasaka syndrome
Akesson syndrome
Aksu von Stockhausen syndrome
AL amyloidosis
Al Gazali Aziz Salem syndrome
Al Gazali Donnai Mueller syndrome
Al Gazali Hirschsprung syndrome
Al Gazali Khidr Prem Chandran syndrome
Al Gazali Sabrinathan Nair syndrome
Al Gazali syndrome
Alagille syndrome
Aland island eye disease Alaninuria with microcephaly dwarfism enamel hypoplasia and diabetes mellitus
Albinism
Albinism deafness syndrome
Albinism immunodeficiency
Albinism ocular late onset sensorineural deafness
Albinism minimal pigment type
Albright like syndrome
Albright's hereditary osteodystrophy
Aldred syndrome
Alexander disease
ALK+ histiocytosis
Alkaptonuria
Allain-Babin-Demarquez syndrome
Allan-Herndon-Dudley syndrome
Allergic angiitis
Allergic autoimmune thyroiditis
Allergic bronchopulmonary aspergillosis
Allergic encephalomyelitis
Aloi Tomasini Isaia syndrome
Alopecia congenita keratosis palmoplantaris
Alopecia contractures dwarfism mental retardation
Alopecia epilepsy oligophrenia syndrome of Moynahan
Alopecia immunodeficiency
Alopecia macular degeneration growth retardation
Alopecia mental retardation syndrome 1
Alopecia mental retardation syndrome 2
Alopecia universalis onychodystrophy vitiligo
Alopecia epilepsy pyorrhea mental subnormality
Alpers syndrome
Alpha 1-antitrypsin deficiency
Alpha mannosidosis type 2
Alpha-2 deficient collagen disease
Alpha-ketoglutarate dehydrogenase deficiency
Alpha-mannosidosis type 1
Alpha-Thalassemia
Alpha-thalassemia-abnormal morphogenesis
Alport syndrome
Alport syndrome dominant type
Alport syndrome recessive type
ALS-like syndrome of encephalomyopathy
Alsing syndrome
Alstrom syndrome
Alternating hemiplegia of childhood
Aluminium lung
Alveolar capillary dysplasia
Alveolar echinococcosis
Alveolar soft part sarcoma
Alveolitis extrinsic allergic
Alves Castelo dos Santos syndrome
Alzheimer disease familial
Alzheimer disease type 1
Alzheimer disease type 2
Alzheimer disease type 3
Alzheimer disease type 4
Alzheimer's disease without neurofibrillary tangles
Amaurosis congenita cone-rod type with congenital hypertrichosis
Amaurosis fugax
Ambras syndrome
Amebiasis
Amelia cleft lip palate hydrocephalus iris coloboma
Amelogenesis imperfecta
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 hypoplastic/hypomaturation X-linked 2
Ameloonychohypohidrotic syndrome
Amino aciduria with mental deficiency dwarfism muscular dystrophy osteoporosis and acidosis
Aminoaciduria
Aminoacylase 1 deficiency
Aminolevulinate dehydratase deficiency porphyria
Amish lethal microcephaly
Amniotic band syndrome
Ampola syndrome
Amyloid neuropathy
Amyloidosis AA
Amyloidosis Beta2M
Amyloidosis bronchopulmonary
Amyloidosis cerebral
Amyloidosis corneal
Amyloidosis familial visceral
Amyloidosis Finnish type
Amyloidosis nodular localized cutaneous
Amyloidosis of gingiva and conjunctiva with mental retardation
Amyloidosis primary cutaneous
Amyopathic dermatomyositis
Amyoplasia mandibulofacial dysostosis
Amyotonia congenita
Amyotrophic lateral sclerosis
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-parkinsonism/dementia complex 1
Amyotrophy neurogenic scapuloperoneal New England type
Anal cancer
Anal sphincter dysplasia
Anaplastic astrocytoma
Anaplastic ependymoma
Anaplastic ganglioglioma
Anaplastic large cell lymphoma
Anaplastic oligoastrocytoma
Anaplastic oligodendroglioma
Anaplastic small cell lymphoma
Anauxetic dysplasia
Ancylostomiasis
Andermann syndrome
Andersen Tawil syndrome
Androgen insensitivity syndrome
Androgen insensitivity syndrome complete
Androgen insensitivity syndrome mild
Androgen insensitivity syndrome partial
Anemia due to Adenosine triphosphatase deficiency
Anemia sideroblastic and spinocerebellar ataxia
Anencephaly
Anencephaly and spina bifida X-linked
Aneurysm of sinus of Valsalva
Aneurysm intracranial berry 2
Aneurysmal bone cysts
Angel shaped phalangoepiphyseal dysplasia
Angelman syndrome
Angiofollicular ganglionic hyperplasia
Angiofollicular lymph hyperplasia
Angioimmunoblastic lymphadenopathy with dysproteinemia
Angiokeratoma mental retardation coarse face
Angioma hereditary neurocutaneous
Angioma serpiginosum autosomal dominant
Angioma serpiginosum X-linked
Angiomatosis diffuse corticomeningeal of Divry and Van Bogaert
Angiomatosis leptomeningeal capillary venous
Angiomatous lymphoid hamartoma
Angiomyomatous Hamartoma
Angiosarcoma of the breast
Angiosarcoma of the liver
Angiosarcoma of the scalp
Angiostrongyliasis
Aniridia
Aniridia absent patella
Aniridia ataxia renal agenesis psychomotor retardation
Aniridia mental retardation syndrome
Aniridia ptosis mental retardation obesity familial
Aniridia renal agenesis psychomotor retardation
Aniridia cerebellar ataxia and mental deficiency
Anisakiasis
Ankle defects short stature
Ankyloblepharon filiforme adnatum cleft palate
Ankyloblepharon filiforme imperforate anus
Ankylosis of teeth
Annular constricting bands
Annular pancreas
Anodontia
Anomalous origin of right pulmonary artery familial
Anonychia congenita
Anonychia ectrodactyly
Anonychia onychodystrophy
Anonychia total with microcephaly
Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly
Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
Anophthalmia cleft lip palate hypothalamic disorder
Anophthalmia cleft palate micrognathia
Anophthalmia esophageal atresia cryptorchidism
Anophthalmia megalocornea cardiopathy skeletal anomalies
Anophthalmia microcephaly hypogonadism
Anophthalmia or microphthalmia retinal dystrophy and/or myopia
associated with brain anomalies
Anophthalmia plus syndrome
Anophthalmos with limb anomalies
Anorchia
Anorectal atresia
Anotia facial palsy cardiac defect
Anterior pituitary insufficiency familial
Anterior polar cataract 2
Anterior segment mesenchymal dysgenesis
Anterior spinal artery stroke
Anthrax
Anti-HLA hyperimmunization
Anti-plasmin deficiency congenital
Antigen-peptide-transporter 2 deficiency
Antihypertensive drugs antenatal infection
Antiphospholipid syndrome
Antisocial personality disorder
Antisynthetase syndrome
Antley Bixler syndrome
Anton's syndrome
Aorta-pulmonary artery fistula
Aortic aneurysm familial thoracic 4
Aortic arch anomaly with peculiar facies and mental retardation
Aortic arch interruption
Aortic arches defect
Aortic coarctation
Aortic dissection lentiginosis
Aortic supravalvular stenosis
Aortic valve stenosis
Aortic valves stenosis of the child
Aortopulmonary window
Apert like polydactyly syndrome
Apert syndrome
Aphalangia partial with syndactyly and duplication of metatarsal IV
Aphthous stomatitis
Aplasia cutis autosomal recessive
Aplasia cutis congenita
Aplasia cutis congenita dominant
Aplasia cutis congenita intestinal lymphangiectasia
Aplasia cutis congenita of limbs recessive
Aplasia cutis congenita recessive
Aplasia cutis myopia
Aplastic anemia
Apo A-I deficiency
Apolipoprotein C 2I deficiency
Apparent mineralocorticoid excess
Apraxia
APUDoma
Aquagenic pruritus
Arachindonic acid absence of
Arachnodactyly mental retardation dysmorphism
Arachnoid cysts
Arachnoiditis
Arakawa's syndrome 2
Arbovirosis
AREDYLD
Arena syndrome
Arginase deficiency
Argininosuccinic aciduria
Arhinia choanal atresia microphthalmia
Arnold Stickler Bourne syndrome
Aromatase deficiency
Aromatic amino acid decarboxylase deficiency
Arrhinia
Arrhythmogenic right ventricular dysplasia
Arroyo Garcia Cimadevilla syndrome
Arterial calcification of infancy
Arterial tortuosity syndrome
Arthritis short stature deafness
Arthrogryposis and ectodermal dysplasia
Arthrogryposis distal type 2B
Arthrogryposis due to muscular dystrophy
Arthrogryposis epileptic seizures migrational brain disorder
Arthrogryposis IUGR thoracic dystrophy
Arthrogryposis like disorder
Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita CNS calcification
Arthrogryposis multiplex congenita distal
Arthrogryposis multiplex congenita distal type 1
Arthrogryposis multiplex congenita neurogenic type
Arthrogryposis multiplex congenita pulmonary hypoplasia
Arthrogryposis multiplex congenita whistling face
Arthrogryposis multiplex congenita distal type 2
Arthrogryposis multiplex congenita distal X-linked
Arthrogryposis multiplex with deafness inguinal hernias and early death
Arthrogryposis ophthalmoplegia retinopathy
Arthrogryposis renal dysfunction cholestasis syndrome
Arthrogryposis spinal muscular atrophy
Arthrogryposis distal type 2E
Arthrogryposis distal with hypopituitarism mental retardation and facial anomalies
Arthrogryposis-like hand anomaly and sensorineural deafness
Arts syndrome
Asbestosis
Ascher's Syndrome
Asherman's syndrome
Aspartylglycosaminuria
Aspergillosis
Aspergillus niger infection
Asphyxia neonatorum
Asrar Facharzt Haque syndrome
Asternia
Asternia with Cardiac Diaphragmatic and Abdominal defects
Astley-Kendall syndrome
Astroblastoma
Ataxia-telangiectasia
Ataxia telangiectasia variant V1
Ataxia with vitamin E deficiency
Atelosteogenesis type 1
Atelosteogenesis type 2
Atelosteogenesis type 3
Athabaskan brainstem dysgenesis
Athetosis
Atkin syndrome
Atlanto-Axial Fusion
ATR-X syndrome
Atransferrinemia
Atresia of small intestine
Atrial fibrillation familial
Atrial myxoma familial
Atrial septal defect coronary sinus
Atrial septal defect ostium primum
Atrial septal defect ostium secundum
Atrial septal defect sinus venosus
Atrioventricular septal defect
Atrophoderma of Pierini and Pasini
Atrophodermia vermiculata
Attenuated FAP
Atypical lipodystrophy
Atypical mycobacteriosis familial
Atypical Rett syndrome
Auditory neuropathy
Auditory perceptual disorder
Auralcephalosyndactyly
Auriculo-condylar syndrome
Auriculoosteodysplasia
Ausems Wittebol-Post Hennekam syndrome
Autism with port-wine stain
Autoimmune enteropathy
Autoimmune hemolytic anemia
Autoimmune hepatitis
Autoimmune Inner Ear disease
Autoimmune lymphoproliferative syndrome
Autoimmune myocarditis
Autoimmune oophoritis
Autoimmune peripheral neuropathy
Autoimmune polyglandular syndrome type 1
Autoimmune polyglandular syndrome type 2
Autoimmune progesterone dermatitis
Autosomal dominant compelling helio ophthalmic outburst syndrome
Autosomal dominant hyper IgE syndrome
Autosomal dominant partial epilepsy with auditory features
Autosomal recessive cerebellar ataxia with cabc1/adck3 gene mutations
Autosomal recessive hyper IgE syndrome
Autosomal recessive nonsyndromic congenital nuclear cataract
Autosomal recessive polycystic kidney disease
Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome type 1
Axenfeld-Rieger syndrome type 2
Axenfeld-Rieger syndrome type 3
Axial mesodermal dysplasia spectrum
Axial osteomalacia
Axial osteosclerosis
Ayazi syndrome
B cell prolymphocytic leukemia
B-cell lymphomas
Babesiosis
Baby rattle pelvic dysplasia
Bacterial meningitis
Baetz-Greenwalt syndrome
Bagatelle Cassidy syndrome
Baker Vinters syndrome
Balantidiasis
Balkan endemic nephropathy
Baller-Gerold syndrome
Balo disease
Balo's concentric sclerosis
Bamforth syndrome
BANF acoustic neurinoma
Banki syndrome
Bannayan-Riley-Ruvalcaba syndrome
Banti's syndrome
Bantu siderosis
Baraitser Brett Piesowicz syndrome
Baraitser Rodeck Garner syndrome
Barakat syndrome
Barber Say syndrome
Bardet-Biedl syndrome
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 6
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome 9
Bare lymphocyte syndrome
Bare lymphocyte syndrome 2
Baritosis
Barnicoat Baraitser syndrome
Baroreflex failure
Barraquer-Simons syndrome
Barre Lieou syndrome
Barth syndrome
Bartter syndrome antenatal type 1
Bartter syndrome antenatal type 2
Bartter syndrome type 3
Bartter syndrome type 4
Bartter's syndrome
Basal cell carcinoma infundibulocystic
Basal cell carcinoma multiple
Basal cell nevus anodontia abnormal bone mineralization
Basal ganglia disease biotin-responsive
Basaloid follicular hamartoma
Basan syndrome
Basaran Yilmaz syndrome
Basedow's coma
Basilar impression primary
Basilar migraine
Bassoe syndrome
Battaglia Neri syndrome
Batten Disease
Bazex-Dupre-Christol syndrome
Bazopoulou Kyrkanidou syndrome
Bd syndrome
Beardwell syndrome
Becker muscular dystrophy
Becker nevus syndrome
Becker's nevus
Beckwith-Wiedemann syndrome
Bednar's tumor
Beemer Ertbruggen syndrome
Behcet's disease
Behr syndrome
Behrens Baumann Dust syndrome
Bejel
Bell's palsy
Bellini Chiumello Rimoldi syndrome
Ben Ari Shuper Mimouni syndrome
Benallegue Lacete syndrome
Benign angiitis of the central nervous system
Benign autosomal dominant myopathy
Benign eccrine spiradenoma
Benign essential tremor syndrome
Benign familial infantile epilepsy
Benign familial neonatal-infantile seizures
Benign hyperphenylalaninemia
Benign metastasizing leiomyoma
Benign multicystic peritoneal mesothelioma
Benign paroxysmal positional vertigo
Benign recurrent intrahepatic cholestasis 1
Benign recurrent intrahepatic cholestasis 2
Benign rolandic epilepsy (BRE)
Berger disease
Beriberi
Berk-Tabatznik syndrome
Berry aneurysm cirrhosis pulmonary emphysema and cerebral calcification
Berylliosis
Best vitelliform macular dystrophy
Best1 retinopathy
Beta ketothiolase deficiency
Beta-galactosidase-1 deficiency
Beta-sarcoglycanopathy
Beta-thalassemia
Bethlem myopathy
Beukes familial hip dysplasia
Bhaskar Jagannathan syndrome
Bidirectional tachycardia
Biemond syndrome
Biemond syndrome 2
Biemond syndrome type 1
Biermer disease
Bietti crystalline corneoretinal dystrophy
Bifid nose
Bifid nose with or without anorectal and renal anomalies
Bilateral frontal polymicrogyria
Bilateral frontoparietal polymicrogyria
Bilateral generalized polymicrogyria
Bilateral parasagittal parieto-occipital polymicrogyria
Bilateral perisylvian polymicrogyria
Bilateral renal agenesis dominant type
Bile acid synthesis defect congenital 1
Bile acid synthesis defect congenital 2
Bile acid synthesis defect congenital 4
Bile duct cancer
Bile duct cysts
Biliary atresia extrahepatic
Biliary atresia intrahepatic non syndromic form
Biliary atresia intrahepatic syndromic form
Biliary hypoplasia
Biliary tract cancer
Bilirubin induced brain injury in the newborn
Billet Bear syndrome
Binswanger's disease
Biotinidase deficiency
Bird headed dwarfism Montreal type
Bird-headed dwarfism with progressive ataxia insulin-resistant diabetes goiter and primary gonadal insufficiency
Birdshot chorioretinopathy
Birk Barel mental retardation dysmorphism syndrome
Birt-Hogg-Dube syndrome
Bixler Christian Gorlin syndrome
Bjornstad syndrome
BK-virus nephropathy
Bladder cancer childhood
Blaichman syndrome
Blastic plasmacytoid dendritic cell
Blastoma
Blastomycosis
Blau syndrome
Blepharo naso facial syndrome Van maldergem type
Blepharofacioskeletal syndrome
Blepharophimosis
Blepharophimosis syndrome Ohdo type
Blepharophimosis with ptosis syndactyly and short stature
Blepharophimosis ptosis and epicanthus inversus syndrome type 1
Blepharophimosis ptosis and epicanthus inversus syndrome type 2
Blepharoptosis myopia ectopia lentis
Blepharospasm
Bloom syndrome
Blount disease
Blue cone monochromatism
Blue diaper syndrome
Blue rubber bleb nevus
Bobble-head doll syndrome
BOD syndrome
Boerhaave syndrome
Bone cancer
Bone dysplasia Azouz type
Bone dysplasia corpus callosum agenesis
Bone dysplasia lethal Holmgren type
Bone dysplasia Moore type
Bone fragility craniosynostosis proptosis hydrocephalus
Book syndrome
Boomerang dysplasia
BOR-Duane hydrocephalus contiguous gene syndrome
Borjeson-Forssman-Lehmann syndrome
Bork Stender Schmidt syndrome
Borrone Di Rocco Crovato syndrome
Bothriocephalosis
Botulism
Boucher Neuhauser syndrome
Boudhina Yedes Khiari syndrome
Bourneville syndrome
Bowen syndrome
Bowen's disease
Bowen-Conradi syndrome
Bowenoid papulosis
Bowing congenital short bones
Bowing of legs anterior with dwarfism
Bowing of long bones congenital
Boylan Dew Greco syndrome
Brachial amelia forebrain defects and facial clefts
Brachioskeletogenital syndrome
Brachycephalofrontonasal dysplasia
Brachydactylous dwarfism Mseleni type
Brachydactyly absence of distal phalanges
Brachydactyly anonychia
Brachydactyly dwarfism mental retardation
Brachydactyly elbow wrist dysplasia
Brachydactyly long thumb type
Brachydactyly mesomelia mental retardation heart defects
Brachydactyly Mononen type
Brachydactyly preaxial with hallux varus and thumb abduction
Brachydactyly scoliosis carpal fusion
Brachydactyly small stature face anomalies
Brachydactyly tibial hypoplasia
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type A3
Brachydactyly type A4
Brachydactyly type A5
Brachydactyly type A6
Brachydactyly type A7
Brachydactyly type B
Brachydactyly type C
Brachydactyly type E
Brachydactyly types B and E combined
Brachydactyly with hypertension
Brachymesomelia renal syndrome
Brachymesophalangy type 2
Brachymetapody anodontia hypotrichosis albinoidism
Brachyolmia type 1 Hobaek type
Brachyolmia type 3
Brachyphalangy polydactyly and tibial aplasia/hypoplasia
Braddock Jones Superneau syndrome
Brain stem cancer
Brain stem glioma childhood
Brain tumor adult
Brain tumor childhood
Branchial arch defects
Branchial arch syndrome X-linked
Branchiooculofacial syndrome
Branchiootic syndrome
Branchiootorenal syndrome
Breast cancer childhood
Breast cancer male
Brenner tumor of ovary
Brenner tumor of the vagina
Brittle bone syndrome lethal type
Brittle cornea syndrome
Broad-betalipoproteinemia
Brody myopathy
Bronchial adenomas/carcinoids childhood
Bronchiectasis oligospermia
Bronchiolitis obliterans
Bronchiolitis obliterans organizing pneumonia
Bronchogenic cyst
Bronchopulmonary dysplasia
Brooke-Spiegler syndrome
Brooks Wisniewski Brown syndrome
Brown syndrome
Brown-Sequard syndrome
Brown-Vialetto-Van laere syndrome
Brucellosis
Bruck syndrome 1
Bruck syndrome 2
Brugada syndrome
Brugada syndrome 3
Brugada syndrome 4
Brunoni syndrome
Brunsting-Perry syndrome
Bruyn Scheltens syndrome
Bubonic plague
Budd-Chiari syndrome
Buerger disease
Bulbo-spinal atrophy X-linked
Bulbospinal amyotrophy X-linked
Bullous dystrophy hereditary macular type
Bullous erythroderma ichthyosiformis congenita of Brocq
Bullous pemphigoid
Burkitt's lymphoma
Burn Goodship syndrome
Burn-Mckeown syndrome
Burnett Schwartz Berberian syndrome
Burning mouth syndrome type 3
Buruli ulcer
Buschke Lowenstein tumor
Buschke Ollendorff syndrome
Bustos Simosa Pinto Cisternas syndrome
Butyrylcholinesterase deficiency
Byssinosis

C - D Rare Diseases

C syndrome
C-like syndrome
CADASIL
Cafe au lait spots multiple
Caffey disease
CAHMR syndrome
Calabro syndrome
Calcifying Epithelial Odontogenic Tumor
Calciphylaxis
Calcium Pyrophosphate Dihydrate Desposition Disease
California encephalitis
Calloso-genital dysplasia
Calvarial hyperostosis
Camera Marugo Cohen syndrome
Campomelia Cumming type
Campomelic dysplasia
Camptobrachydactyly
Camptocormism
Camptodactyly arthropathy coxa vara pericarditis syndrome
Camptodactyly joint contractures and facial skeletal dysplasia
Camptodactyly syndrome Guadalajara type 1
Camptodactyly syndrome Guadalajara type 2
Camptodactyly syndrome Guadalajara type 3
Camptodactyly taurinuria
Camptodactyly vertebral fusion
Camptodactyly fibrous tissue hyperplasia and skeletal dysplasia
Camptodactyly tall stature and hearing loss syndrome
Camptodactyly-ichthyosis syndrome
Camptomelic syndrome long limb type
Camurati Engelmann disease type 2
Camurati-Engelmann disease
Canavan disease
Candida glabrata
Candidiasis familial chronic mucocutaneous autosomal recessive
CANOMAD syndrome
Cantalamessa Baldini Ambrosi syndrome
Cantu Sanchez-Corona Fragoso syndrome
Cantu Sanchez-Corona Garcia-Cruz syndrome
Cantu Sanchez-Corona Hernandez syndrome
Capillary hemangioblastoma
Carbamoyl phosphate synthetase 1 deficiency
Carbon baby syndrome
Carcinoid syndrome
Carcinoid tumor
Carcinoid tumor childhood
Carcinoma of the vocal tract
Carcinoma of unknown primary site childhood
Cardiac diverticulum
Cardiac hydatid cysts with intracavitary expansion
Cardiac rupture
Cardiac valvular dysplasia X-linked
Cardioauditory syndrome of Sanchez Cascos
Cardiocranial syndrome
Cardioencephalomyopathy
Cardiofacial syndrome short limbs
Cardiofaciocutaneous syndrome
Cardiogenital syndrome
Cardiomelic syndrome Stratton Koehler type
Cardiomyopathy and deafness due to tRNA lysine gene mutation
Cardiomyopathy cataract hip spine disease
Cardiomyopathy diabetes deafness
Cardiomyopathy dilated with conduction defect type 1
Cardiomyopathy dilated with conduction defect type 2
Cardiomyopathy dilated with woolly hair and keratoderma
Cardiomyopathy due to anthracyclines
Cardiomyopathy hypogonadism collagenoma syndrome
Cardiomyopathy hypogonadism metabolic anomalies
Cardiomyopathy spherocytosis
Cardiomyopathy fatal fetal due to myocardial calcification
Cardioskeletal syndrome Kuwaiti type
Cardiospasm
Carnevale Hernandez Castillo syndrome
Carnevale syndrome
Carney complex
Carnitine palmitoyl transferase 1 deficiency
Carnitine palmitoyl transferase 2 deficiency
Carnitine palmitoyltransferase I deficiency muscle
Carnitine transporter deficiency
Carnitine-acyl-carnitine translocase deficiency
Carnosinemia
Caroli disease
Carotid body tumor
Carpal deformity migrognathia microstomia
Carpenter syndrome
Carpo tarsal osteolysis recessive
Carpotarsal osteochondromatosis
Carrington syndrome
Cartilage-hair hypoplasia
Cartilaginous cancer
Cartwright Nelson Fryns syndrome
Caspase-8 deficiency
Cassavism
Castleman's disease
Castro Gago Pombo Novo syndrome
Cat Eye syndrome
Cat scratch disease
Catamenial pneumothorax
Cataract and cardiomyopathy
Cataract and congenital ichthyosis
Cataract anterior polar dominant
Cataract ataxia deafness
Cataract congenital autosomal dominant
Cataract congenital dominant non nuclear
Cataract congenital Volkmann type
Cataract Hutterite type
Cataract hypertrichosis mental retardation
Cataract mental retardation hypogonadism
Cataract microcornea syndrome
Cataract microphthalmia septal defect
Cataract skeletal anomalies
Cataract alopecia sclerodactyly
Cataract autosomal recessive congenital 2
Cataract congenital with microcornea or slight microphthalmia
Cataract congenital with microphthalmia
Cataract microphthalmia and nystagmus
Cataract posterior polar 1
Cataract posterior polar 3
Cataract posterior polar 4
Cataract posterior polar 5
Cataract total congenital
Cataract zonular
Cataract-glaucoma
Cataract-microcephaly-failure to thrive-kyphoscoliosis
Cataracts ataxia short stature and mental retardation
Catastrophic antiphospholipid syndrome
Catatrichy
Catel Manzke syndrome
Caudal appendage deafness
Caudal duplication
Caudal regression syndrome
Cavernous lymphangioma
Cayler cardiofacial syndrome
Ccge syndrome
CD3 deficiency
CD4 deficiency
CDG syndrome type 3
CDG syndrome type 4
CDK4 linked melanoma
Cennamo Gangemi syndrome
Central centrifugal cicatricial alopecia
Central core disease
Central nervous system lymphoma primary
Central neurocytoma
Central post-stroke pain
Central serous chorioretinopathy
Cercarial Dermatitis
Cerebellar agenesis
Cerebellar astrocytoma childhood
Cerebellar ataxia and hypogonadotropic hypogonadism
Cerebellar ataxia ectodermal dysplasia
Cerebellar ataxia infantile with progressive external ophthalmoplegia
Cerebellar ataxia areflexia pes cavus optic atrophy and sensorinural hearing loss
Cerebellar degeneration
Cerebellar degeneration subacute
Cerebellar hypoplasia
Cerebellar hypoplasia tapetoretinal degeneration
Cerebellar hypoplasia with endosteal sclerosis
Cerebellar liponeurocytoma
Cerebello-olivary atrophy
Cerebelloparenchymal disorder 3
Cerebellum agenesis hydrocephaly
Cerebral astrocytoma childhood
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Cerebral calcification cerebellar hypoplasia
Cerebral calcifications opalescent teeth phosphaturia
Cerebral cavernous malformation
Cerebral dysgenesis neuropathy ichthyosis and palmoplantar keratoderma syndrome
Cerebral folate deficiency
Cerebral gigantism jaw cysts
Cerebral palsy ataxic
Cerebral palsy athetoid
Cerebral palsy mixed
Cerebral palsy spastic diplegic
Cerebral palsy spastic hemiplegic
Cerebral palsy spastic monoplegic
Cerebral palsy spastic quadriplegic
Cerebral sarcoma
Cerebral sclerosis similar to Pelizaeus-Merzbacher disease
Cerebral ventricle cancer
Cerebro facio thoracic dysplasia
Cerebro-costo-mandibular syndrome
Cerebro-oculo-facio-skeletal syndrome
Cerebrocostomandibular-like syndrome
Cerebrospinal fluid leak
Cerebrotendinous xanthomatosis
Ceroid lipofuscinosis neuronal 1
Ceroid lipofuscinosis neuronal 10
Ceroid lipofuscinosis neuronal 2
Ceroid lipofuscinosis neuronal 3
Ceroid lipofuscinosis neuronal 4A autosomal recessive
Ceroid lipofuscinosis neuronal 4B autosomal dominant
Ceroid lipofuscinosis neuronal 5
Ceroid lipofuscinosis neuronal 6
Ceroid lipofuscinosis neuronal 7
Ceroid lipofuscinosis neuronal 8
Ceroid lipofuscinosis neuronal 9
Ceroid storage disease
Cerulean cataract
Cervical dystonia
Cervical hypertrichosis peripheral neuropathy
Cervical intraepithelial neoplasia
Cervical ribs Sprengel anomaly anal atresia and urethral obstruction
Chagas disease
Chanarin-Dorfman syndrome
Chancroid
Chandler's syndrome
CHANDS
Chang Davidson Carlson syndrome
Chaotic atrial tachycardia
Char syndrome
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease deafness recessive type
Charcot-Marie-Tooth disease dominant intermediate 1
Charcot-Marie-Tooth disease dominant intermediate 2
Charcot-Marie-Tooth disease dominant intermediate 3
Charcot-Marie-Tooth disease neuronal type A
Charcot-Marie-Tooth disease neuronal type B
Charcot-Marie-Tooth disease neuronal type D
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 2A
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 2B2
Charcot-Marie-Tooth disease type 2C
Charcot-Marie-Tooth disease type 2D
Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2F
Charcot-Marie-Tooth disease type 2G
Charcot-Marie-Tooth disease type 2H
Charcot-Marie-Tooth disease type 2I
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2K
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease with ptosis and parkinsonism
Charcot-Marie-Tooth disease with pyramidal features autosomal dominant
Charcot-Marie-Tooth disease X-linked 1
Charcot-Marie-Tooth disease X-linked recessive 2
Charcot-Marie-Tooth disease X-linked recessive 3
Charcot-Marie-Tooth type 1 aplasia cutis congenita
CHARGE syndrome
Charles Bonnet syndrome
Charlie M syndrome
Chediak-Higashi syndrome
Cheilitis glandularis
Chemke Oliver Mallek syndrome
Cherubism
Chester porphyria
Chiari malformation type 0 (zero)
Chiari malformation type 1
Chiari malformation type 2
Chiari malformation type 3
Chiari malformation type 4
Chiari-Frommel syndrome
Chikungunya
Chilaiditi syndrome
CHILD syndrome
Childhood disintegrative disorder
Childhood-onset cerebral X-linked adrenoleukodystrophy
Childhood-Onset Schizophrenia
Children's interstitial lung disease
Chitayat Meunier Hodgkinson syndrome
Chitty Hall Baraitser syndrome
Chitty Hall Webb syndrome
Cholecystitis
Cholemia familial
Cholera
Cholestasis intrahepatic of pregnancy
Cholestasis progressive familial intrahepatic 1
Cholestasis progressive familial intrahepatic 2
Cholestasis progressive familial intrahepatic 3
Cholestasis progressive familial intrahepatic 4
Cholestatic jaundice renal tubular insufficiency
Cholesteatoma
Cholesterol pneumonia
Chondroblastoma
Chondrocalcinosis 1
Chondrocalcinosis 2
Chondrocalcinosis due to apatite crystal deposition
Chondrodysplasia
Chondrodysplasia acromesomelic with genital anomalies
Chondrodysplasia Blomstrand type
Chondrodysplasia calcificans metaphysealis
Chondrodysplasia lethal recessive
Chondrodysplasia punctata 1 X-linked recessive
Chondrodysplasia punctata 2 X-linked dominant
Chondrodysplasia punctata Sheffield type
Chondrodysplasia punctata syndrome
Chondrodysplasia punctata with steroid sulfatase deficiency
Chondrodysplasia punctata humero-metacarpal type
Chondrodysplasia situs inversus imperforate anus polydactyly
Chondrodysplasia Grebe type
Chondrodystrophy
Chondroma
Chondrosarcoma
Chordoid glioma of the third ventricle
Chordoma
Chorea familial benign
Chorea minor
Chorea remitting with nystagmus and cataracts
Choreoacanthocytosis
Choreoacanthocytosis amyotrophic
Choriocarcinoma
Chorioretinal atrophy progressive bifocal
Chorioretinitis
Chorioretinopathy dominant form microcephaly
Choroid plexus calcification with mental retardation
Choroid plexus carcinoma
Choroid plexus cyst
Choroid plexus papilloma
Choroidal dystrophy central areolar
Choroideremia
Choroideremia hypopituitarism
Choroiditis
Christian Demyer Franken syndrome
Christian Johnson Angenieta syndrome
Christianson syndrome
Chromhidrosis
Chromomycosis
Chromophil renal cell carcinoma
Chromophobe renal cell carcinoma
Chromosomal triplication
Chromosome 1 monosomy 1p
Chromosome 1 monosomy 1q4
Chromosome 1 ring
Chromosome 1 uniparental disomy 1q12 q21
Chromosome 1q21.1 micro duplication
Chromosome 10 monosomy 10p
Chromosome 10 monosomy 10q
Chromosome 10 ring
Chromosome 10 trisomy 10p
Chromosome 10 uniparental disomy
Chromosome 10q partial trisomy
Chromosome 11 deletion 11p
Chromosome 11q partial deletion
Chromosome 11q trisomy
Chromosome 12 ring
Chromosome 12 12p trisomy
Chromosome 12 trisomy 12q
Chromosome 12p deletion
Chromosome 13 ring
Chromosome 13p duplication
Chromosome 13q deletion
Chromosome 13q trisomy
Chromosome 13q-mosaicism
Chromosome 14 ring
Chromosome 14 mosaic trisomy
Chromosome 14q partial deletions
Chromosome 14q proximal duplication
Chromosome 14q terminal deletion
Chromosome 15 ring
Chromosome 15 trisomy mosaicism
Chromosome 15q partial deletion
Chromosome 15q tetrasomy
Chromosome 15q trisomy
Chromosome 16 trisomy
Chromosome 16 trisomy 16p
Chromosome 16 uniparental disomy
Chromosome 16p13.3 deletion syndrome
Chromosome 16p13.3 duplication
Chromosome 16q trisomy
Chromosome 17 ring
Chromosome 17 deletion
Chromosome 17 trisomy 17p
Chromosome 17 trisomy 17q22
Chromosome 18 mosaic monosomy
Chromosome 18 ring
Chromosome 18 tetrasomy 18p
Chromosome 18 trisomy 18p
Chromosome 18 trisomy 18q
Chromosome 18p deletion syndrome
Chromosome 18q deletion syndrome
Chromosome 19 ring
Chromosome 19 trisomy 19q
Chromosome 19q13.11 deletion syndrome
Chromosome 1p36 deletion syndrome
Chromosome 1q deletion
Chromosome 1q21.1 duplication syndrome
Chromosome 2 duplication(2)(p13)(p21)
Chromosome 2 monosomy 2q
Chromosome 2 monosomy 2q24
Chromosome 2 trisomy 2p
Chromosome 2 trisomy 2q
Chromosome 20 ring
Chromosome 20 deletion 20p
Chromosome 20 duplication 20p
Chromosome 20 trisomy
Chromosome 21 monosomy
Chromosome 21 ring
Chromosome 21 tetrasomy 21q
Chromosome 21 uniparental disomy
Chromosome 22 mosaic monosomy
Chromosome 22 ring
Chromosome 22 trisomy mosaic
Chromosome 22 trisomy
Chromosome 22q deletion
Chromosome 3 duplication syndrome
Chromosome 3 monosomy 3p
Chromosome 3 trisomy 3p
Chromosome 3 trisomy 3q
Chromosome 3q29 microduplication syndrome
Chromosome 4 ring syndrome
Chromosome 4 short arm deletion
Chromosome 4 monosomy 4q
Chromosome 4 Trisomy 4p
Chromosome 4 trisomy 4q
Chromosome 5 trisomy 5p
Chromosome 5 trisomy 5q
Chromosome 5 uniparental disomy
Chromosome 6 ring syndrome
Chromosome 6 monosomy 6q
Chromosome 6 monosomy 6q2
Chromosome 6 trisomy 6p
Chromosome 6 trisomy 6q
Chromosome 7 ring syndrome
Chromosome 7 monosomy
Chromosome 7 partial monosomy 7p
Chromosome 7 trisomy 7p
Chromosome 7 trisomy 7q
Chromosome 7 trisomy mosaic
Chromosome 8 ring
Chromosome 8 monosomy 8p
Chromosome 8 monosomy 8p23 1
Chromosome 8 monosomy 8q
Chromosome 8 trisomy 8p
Chromosome 8 trisomy 8q
Chromosome 9 Ring
Chromosome 9 monosomy 9p
Chromosome 9 tetrasomy 9p
Chromosome 9 trisomy 9q
Chromosome 9p trisomy
Chronic active Epstein-Barr virus infection
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
Chronic berylliosis
Chronic demyelinizing neuropathy with IgM monoclonal
Chronic erosive gastritis
Chronic granulomatous disease
Chronic Infantile Neurological Cutaneous Articular syndrome
Chronic inflammatory demyelinating polyneuropathy
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
Chronic lymphocytic leukemia
Chronic myeloid leukemia
Chronic myelomonocytic leukemia
Chronic myeloproliferative disorders
Chronic neutrophilic leukemia
Chronic polyradiculoneuritis
Chronic progressive external ophthalmoplegia
Chronic recurrent multifocal osteomyelitis
Chudley Rozdilsky syndrome
Chudley-Mccullough syndrome
Churg Strauss syndrome
Chylomicron retention disease
Chylothorax congenital
Chylous ascites
Cicatricial pemphigoid
Ciguatera fish poisoning
Ciliary discoordination due to random ciliary orientation
Ciliary dyskinesia with excessively long cilia
Ciliary dyskinesia due to transposition of ciliary microtubules
Ciliary dyskinesia-bronchiectasis
Cilliers Beighton syndrome
Circumscribed cutaneous aplasia of the vertex
Circumscribed disseminated keratosis Jadassohn Lew type
Citrulline transport defect
Citrullinemia type I
Clark-Baraitser syndrome
Clasped thumbs congenital
Classic Kaposi sarcoma
Clayton-Smith Donnai syndrome
Clear cell renal cell carcinoma
Cleft hand absent tibia
Cleft lip and palate malrotation cardiopathy
Cleft lip and/or palate with mucous cysts of lower
Cleft lip palate abnormal thumbs microcephaly
Cleft lip palate dysmorphism Kumar type
Cleft lip palate mental retardation corneal opacity
Cleft lip palate oligodontia syndactyly pili torti
Cleft lip palate pituitary deficiency
Cleft lip palate-tetraphocomelia
Cleft lower lip cleft lateral canthi chorioretinal
Cleft palate cardiac defect ectrodactyly
Cleft palate colobomata radial synostosis deafness
Cleft palate heart disease polydactyly absent tibia
Cleft palate lateral synechia syndrome
Cleft palate short stature vertebral anomalies
Cleft palate stapes fixation oligodontia
Cleft palate X-linked
Cleft palate midfacial hypoplasia triangular facies and sensorineural hearing loss
Cleft tongue syndrome
Cleft upper lip median cutaneous polyps
Cleidocranial dysplasia
Cleidocranial dysplasia recessive form
Cleidorhizomelic syndrome
Cloacal exstrophy
Clostridium difficile
Clostridium sordellii
Cluster headache
Cluttering
CMV antenatal infection
COACH syndrome
Coal worker's pneumoconiosis
Coarctation of aorta dominant
Coarse face hypotonia constipation
Coats disease
Cocaine antenatal infection
Coccidioidomycosis
Coccygodynia
Cochleosaccular degeneration of the inner ear and progressive cataracts
Cockayne syndrome
Cockayne syndrome type I
Cockayne syndrome type II
Cockayne syndrome type III
CODAS syndrome
Coenzyme Q cytochrome c reductase deficiency of
Coenzyme Q10 deficiency
Coffin syndrome 1
Coffin-Lowry syndrome
Coffin-Siris syndrome
Cogan's syndrome
Cogan-Reese syndrome
Cohen Hayden syndrome
Cohen Lockood Wyborney syndrome
Cohen syndrome
Cold agglutinin disease
Cold contact urticaria
Cole Carpenter syndrome
Collagenopathy type 2 alpha 1
Collagenous colitis
Collecting duct carcinoma
Collins Pope syndrome
Collins Sakati syndrome
Colloid cysts of third ventricle
Coloboma chorioretinal cerebellar vermis aplasia
Coloboma hair abnormality
Coloboma of alar-nasal cartilages with telecanthus
Coloboma of choroid and retina
Coloboma of eye lens
Coloboma of iris
Coloboma of lens ala nasi
Coloboma of macula
Coloboma of macula with type B brachydactyly
Coloboma of optic nerve
Coloboma of optic papilla
Coloboma porencephaly hydronephrosis
Coloboma cleft lip/palate and mental retardation syndrome
Colobomata unilobar lung heart defect
Colobomatous microphthalmia heart disease hearing
Colonic atresia
Colonic malakoplakia
Colorectal cancer childhood
Colpocephaly
Colver Steer Godman syndrome
Combarros Calleja Leno syndrome
Combined malonic and methylmalonic aciduria
Common variable immunodeficiency
Compartment syndrome
Complement component 2 deficiency
Complement component 8 deficiency type 1
Complement component 8 deficiency type 2
Complement component deficiency
Complement component receptor 1
Complement receptor deficiency
Complete atrioventricular canal
Complex regional pain syndrome
Conductive deafness malformed external ear
Cone dystrophy X-linked with tapetal-like sheen
Cone-rod dystrophy
Cone-rod dystrophy 1
Cone-rod dystrophy 2
Cone-rod dystrophy 3
Cone-rod dystrophy 5
Cone-rod dystrophy 6
Cone-rod dystrophy amelogenesis imperfecta
Cone-rod dystrophy X-linked 1
Cone-rod dystrophy X-linked 2
Cone-rod dystrophy X-linked 3
Congenital absence of the sternocleidomastoid muscle
Congenital adrenal hyperplasia
Congenital alopecia X-linked
Congenital amegakaryocytic thrombocytopenia
Congenital amputation
Congenital aneurysms of the great vessels
Congenital anosmia
Congenital antithrombin deficiency
Congenital antithrombin deficiency type 2
Congenital antithrombin deficiency type 3
Congenital aplastic anemia
Congenital arteriovenous shunt
Congenital articular rigidity
Congenital benign spinal muscular atrophy dominant
Congenital bilateral absence of the vas deferens
Congenital bronchobiliary fistula
Congenital cardiovascular shunt
Congenital central hypoventilation syndrome
Congenital chloride diarrhea
Congenital contractural arachnodactyly
Congenital contractures
Congenital craniosynostosis maternal hyperthyroiditis
Congenital cystic eye
Congenital cystic eye multiple ocular and intracranial anomalies
Congenital cytomegalovirus
Congenital diaphragmatic hernia
Congenital dislocation of the patella
Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1C
Congenital disorder of glycosylation type 1D
Congenital disorder of glycosylation type 1E
Congenital disorder of glycosylation type 1F
Congenital disorder of glycosylation type 1G
Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1I
Congenital disorder of glycosylation type 1J
Congenital disorder of glycosylation type 1K
Congenital disorder of glycosylation type 1L
Congenital disorder of glycosylation type 2A
Congenital disorder of glycosylation type 2B
Congenital disorder of glycosylation type 2C
Congenital disorder of glycosylation type 2D
Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation type 2G
Congenital disorder of glycosylation type I/IIX
Congenital disorders of glycosylation
Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia type 1
Congenital dyserythropoietic anemia type 2
Congenital dyserythropoietic anemia type 3
Congenital ectodermal dysplasia with hearing loss
Congenital fiber type disproportion
Congenital generalized fibromatosis
Congenital generalized lipodystrophy type 1
Congenital generalized lipodystrophy type 2
Congenital giant megaureter
Congenital heart block
Congenital heart disease ptosis hypodontia craniostosis
Congenital heart disease radio ulnar synostosis mental retardation
Congenital hemolytic anemia
Congenital hepatic fibrosis
Congenital herpes simplex
Congenital human immunodeficiency virus
Congenital hypomyelination neuropathy
Congenital hypothyroidism
Congenital hypotrichosis milia
Congenital ichthyosis microcephalus quadriplegia
Congenital ichtyosiform erythroderma
Congenital insensitivity to pain with hyperhidrosis
Congenital lipoid adrenal hyperplasia
Congenital megalo-ureter
Congenital mesoblastic nephroma
Congenital mitral malformation
Congenital mitral stenosis
Congenital mixovirus
Congenital mumps
Congenital Muscular dystrophy
Congenital muscular dystrophy syringomyelia
Congenital myasthenic syndrome with episodic apnea
Congenital myotonic dystrophy
Congenital nephrotic syndrome Finnish type
Congenital nonhemolytic jaundice
Congenital nonprogressive myopathy with Moebius and Robin sequences
Congenital porphyria
Congenital primary aphakia
Congenital pseudoarthrosis
Congenital pulmonary alveolar proteinosis
Congenital pulmonary lymphangiectasia
Congenital short femur
Congenital stenosis of cervical medullary canal
Congenital sucrase-isomaltase deficiency
Congenital sucrose isomaltose malabsorption
Congenital torticollis
Congenital tracheomalacia
Congenital unilateral pulmonary hypoplasia
Congenital vagal hyperreflexivity
Congenital varicella syndrome
Congenitally corrected transposition of the great arteries
Conjunctival melanoma
Conjunctivitis ligneous
Conjunctivitis with Pseudomembrane
Conn's syndrome
Connective tissue dysplasia Spellacy type
Conotruncal anomaly face syndrome
Conotruncal heart malformations
Continuous muscle fiber activity hereditary
Continuous spike-wave during slow sleep syndrome
Contractures ectodermal dysplasia cleft lip palate
Conversion disorder
Convulsions benign familial neonatal dominant form
Convulsions benign familial infantile 1
Copper deficiency familial benign
CoQ-responsive OXPHOS deficiency
Cor biloculare
Cor triatriatum
Cormier Rustin Munnich syndrome
Cornea guttata with anterior polar cataract
Corneal anesthesia deafness mental retardation
Corneal crystals myopathy neuropathy
Corneal dystrophy and perceptive deafness
Corneal dystrophy Avellino type
Corneal dystrophy crystalline of Schnyder
Corneal dystrophy Fuchs endothelial 1
Corneal dystrophy ichthyosis microcephaly mental retardation
Corneal dystrophy of Bowman layer type 1
Corneal dystrophy pigmentary anomaly malabsorption
Corneal dystrophy Thiel Behnke type
Corneal dystrophy lattice type 2
Corneal endothelial dystrophy type 2
Corneal hypesthesia familial
Cornelia de Lange syndrome
Corneodermatoosseous syndrome
Coronal synostosis syndactyly and jejunal atresia
Coronaro-cardiac fistula
Coronary arteries congenital malformation
Coronary artery aneurysm
Corpus callosum agenesis
Corpus callosum agenesis double urinary collecting
Corpus callosum agenesis of blepharophimosis Robin type
Corpus callosum agenesis polysyndactyly
Corpus callosum dysgenesis cleft spasm
Corpus callosum dysgenesis hypopituitarism
Corpus callosum dysgenesis X-linked recessive
Corsello Opitz syndrome
Cortada Koussef Matsumoto syndrome
Cortes Lacassie syndrome
Cortical blindness mental retardation polydactyly
Cortical defects wormian bones and dentinogenesis imperfecta
Cortical hyperostosis syndactyly
Corticobasal degeneration
Cortisone reductase deficiency
Costello syndrome
Costocoracoid ligament congenitally short
Cote Katsantoni syndrome
Cough headache
Cousin syndrome
Cowchock syndrome
Cowden's disease
Coxa vara congenital
Coxoauricular syndrome
Cramp-fasciculations syndrome
Crandall syndrome
Crane-Heise syndrome
Cranio osteoarthropathy
Cranioacrofacial syndrome
Craniodiaphyseal dysplasia
Craniodigital syndrome mental retardation
Cranioectodermal dysplasia
Craniofacial and skeletal defects
Craniofacial deafness hand syndrome
Craniofacial dysostosis arthrogryposis progeroid appearence
Craniofacial dysostosis with diaphyseal hyperplasia
Craniofacial dyssynostosis
Craniofacial dystonia
Craniofacial malformations asymmetric with polysyndactyly and abnormal skin and gut development
Craniofaciocardioskeletal syndrome
Craniofaciocervical osteoglyphic dysplasia
Craniofrontonasal dysplasia
Craniofrontonasal syndrome Teebi type
Craniometaphyseal dysplasia autosomal dominant
Craniometaphyseal dysplasia autosomal recessive type
Craniomicromelic syndrome
Craniopharyngioma
Craniorachischisis
Craniostenosis cataract
Craniostenosis with congenital heart disease mental retardation
Craniosynostosis
Craniosynostosis alopecia brain defect
Craniosynostosis arthrogryposis cleft palate
Craniosynostosis autosomal dominant
Craniosynostosis cleft lip palate arthrogryposis
Craniosynostosis contractures cleft
Craniosynostosis exostoses nevus epibulbar dermoid
Craniosynostosis Fontaine type
Craniosynostosis Maroteaux Fonfria type
Craniosynostosis mental retardation clefting syndrome
Craniosynostosis mental retardation heart defects
Craniosynostosis Philadelphia type
Craniosynostosis anal anomalies and porokeratosis
Craniosynostosis-mental retardation syndrome of Lin and Gettig
Craniotelencephalic dysplasia
Crawfurd syndrome
Creatine deficiency X-linked
Creeping myiasis
CREST syndrome
Cretinism athyreotic
Creutzfeldt-Jakob disease
Cri du chat syndrome
Crigler Najjar syndrome type 1
Crigler Najjar syndrome type 2
Crisponi syndrome
Crohn's disease of the esophagus
Crome syndrome
Cronkhite-Canada disease
Crossed polydactyly type 1
Crossed polysyndactyly
Crouzon syndrome
Crumpled helices and small mouth
Cryofibrinogenemia
Cryoglobulinemia
Cryoglobulinemia familial mixed
Cryopyrin-Associated Periodic syndromes (CAPS)
Cryptococcosis
Cryptogenic Organizing Pneumonia
Cryptomicrotia brachydactyly syndrome
Cryptophthalmos
Cryptorchidism arachnodactyly mental retardation
Cryptosporidiosis
Curly hair ankyloblepharon nail dysplasia syndrome
Curly hair-acral keratoderma-caries syndrome
Currarino triad
Cushing syndrome familial
Cushing's symphalangism
Cushing's syndrome
Cutaneous anthrax
Cutaneous larva migrans
Cutaneous lupus erythematosus
Cutaneous mastocytosis
Cutaneous necrotizing vasculitis
Cutaneous photosensitivity and colitis lethal
Cutaneous polyarteritis nodosa
Cutaneous sclerosis
Cutaneous T-cell lymphoma
Cutis Gyrata syndrome of Beare and Stevenson
Cutis gyratum acanthosis nigricans craniosynostosis
Cutis laxa
Cutis laxa osteoporosis
Cutis laxa autosomal dominant
Cutis laxa autosomal recessive type 1
Cutis laxa autosomal recessive type 2A
Cutis laxa autosomal recessive type 2B
Cutis marmorata telangiectatica congenita
Cutis verticis gyrata
Cutis verticis gyrata mental deficiency
Cutler Bass Romshe syndrome
Cyclic neutropenia
Cyclic thrombocytopenia
Cyclic vomiting syndrome
Cyclosporiasis
Cyprus facial neuromusculoskeletal syndrome
Cystic adenomatoid malformation of lung
Cystic fibrosis
Cystic hamartoma of lung and kidney
Cystic hygroma
Cystic hygroma lethal cleft palate
Cystic medial necrosis of aorta
Cysticercosis
Cystin transport protein defect of
Cystinosis
Cystinosis ocular nonnephropathic
Cystinuria
Cystinuria-lysinuria
Cystosarcoma phyllodes
Cytokine deficiency
Cytokine receptor deficiency
Cytomegalic inclusion disease
Cytomegalovirus retinitis
Cytoplasmic body myopathy
Czech dysplasia metatarsal type
Czeizel Losonci syndrome
D ercole syndrome
D-2-alpha hydroxyglutaric aciduria
D-bifunctional protein deficiency
D-glycericacidemia
D-minus hemolytic uremic syndrome (D-HUS)
D-plus hemolytic uremic syndrome (D+HUS)
Daentl Towsend Siegel syndrome
Dahlberg Borer Newcomer syndrome
Daish Hardman Lamont syndrome
Dancing eyes-dancing feet syndrome
Dandy-Walker complex
Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
Dandy-Walker like malformation with atrioventricular septal defect
Dandy-Walker malformation associated with macrocephaly facial anomalies developmental delay and brain stem dysgenesis
Dandy-Walker malformation with facial hemangioma
Dandy-Walker malformation with mental retardation basal ganglia disease and seizures
Dandy-Walker malformation with mental retardation macrocephaly myopia and brachytelephalangy
Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia
Dandy-Walker malformation with postaxial polydactyly
Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
Daneman Davy Mancer syndrome
Danon disease
Darier disease
Dauwerse-Peters syndrome
Davenport Donlan syndrome
Davis Lafer syndrome
De Barsy syndrome
De Hauwere Leroy Adriaenssens syndrome
De Quervains' disease
De Sanctis-Cacchione syndrome
Deafness conductive ptosis skeletal anomalies
Deafness conductive stapedial ear malformation facial palsy
Deafness craniofacial syndrome
Deafness enamel hypoplasia nail defects
Deafness epiphyseal dysplasia short stature
Deafness goiter stippled epiphyses
Deafness hyperuricemia neurologic ataxia
Deafness hypogonadism syndrome
Deafness hypospadias metacarpal and metatarsal syndrome
Deafness mesenteric diverticula of small bowel neuropathy
Deafness mixed with perilymphatic Gusher X-linked
Deafness nephritis anorectal malformation
Deafness oligodontia syndrome
Deafness onychodystrophy dominant form
Deafness onychodystrophy osteodystrophy and mental retardation syndrome
Deafness peripheral neuropathy arterial disease
Deafness progressive cataract autosomal dominant
Deafness skeletal dysplasia lip granuloma
Deafness vitiligo achalasia
Deafness white hair contractures papillomas
Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
Deafness X-linked DFN3
Deafness autosomal dominant nonsyndromic sensorineural 17
Deafness autosomal dominant nonsyndromic sensorineural 22
Deafness autosomal dominant nonsyndromic sensorineural 23
Deafness autosomal dominant nonsyndromic sensorineural 24
Deafness autosomal dominant nonsyndromic sensorineural 3
Deafness autosomal dominant nonsyndromic sensorineural 53
Deafness autosomal recessive 51
Deafness autosomal recessive 55
Deafness isolated due to mitochondrial transmission
Deafness neurosensory nonsyndromic recessive DFN
Deafness neurosensory autosomal recessive 47
Deafness progressive with stapes fixation
Deafness X-linked 2
Deafness X-linked DFN
Deal Barratt Dillon syndrome
Defective apolipoprotein B-100
Deficiency of interleukin-1 receptor antagonist
Degos 'en cocarde' erythrokeratoderma
Degos disease
Dehydrated hereditary stomatocytosis
Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
Delayed membranous cranial ossification
Delayed speech facial asymetry strabismus ear lobe creases
Delleman Oorthuys syndrome
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
Delta-sarcoglycanopathy
Dementia familial British
Dementia familial Danish
Demodicidosis
Dengue fever
Dennis Fairhurst Moore syndrome
Dens in dente and palatal invaginations
Dent disease 1
Dent disease 2
Dentatorubral pallidoluysian atrophy
Dentin dysplasia sclerotic bones
Dentin dysplasia coronal
Dentin dysplasia type 1
Dentinogenesis imperfecta 1
Dentinogenesis imperfecta Shields type 3
Denys-Drash syndrome
Depersonalization disorder
Der Kaloustian Mcintosh Silver syndrome
Dermal eccrine cylindroma
Dermatitis herpetiformis familial
Dermatocardioskeletal syndrome Boronne type
Dermatofibroma
Dermatofibrosarcoma protuberans
Dermatoleukodystrophy
Dermatomyositis
Dermatoosteolysis Kirghizian type
Dermatopathia pigmentosa reticularis
Dermochondrocorneal dystrophy of Franûáois
Dermoids of cornea
Dermoodontodysplasia
Desbuquois syndrome
Desmoid disease hereditary
Desmoid tumor
Desmoplastic infantile astrocytoma
Desmoplastic infantile ganglioglioma
Desmoplastic small round cell tumor
Desmosterolosis
Developmental delay hypotonia extremities hypertrophy
Developmental dysphasia familial
Developmental dysplasia of hip
Devic disease
Devriendt syndrome
Dextrocardia
Dextrocardia with situs inversus
Dextrocardia with unusual facies and microphthalmia
Dextrocardia-bronchiectasis-sinusitis
DFNB1
Di Guglielmo's syndrome
Diabetes hypogonadism deafness mental retardation
Diabetes insipidus nephrogenic mental retardation and intracerebral calcification
Diabetes mellitus transient neonatal
Diabetes persistent mullerian ducts
Diabetes-deafness syndrome maternally transmitted
Diabetic mastopathy
Diamond-Blackfan anemia
Diamond-Blackfan anemia 2
Diamond-Blackfan anemia 3
Dianzani autoimmune lymphoproliferative syndrome
Diaphragmatic agenesis radial aplasia omphalocele
Diaphragmatic defect limb deficiency skull defect
Diaphragmatic hernia exomphalos corpus callosum agenesis
Diaphragmatic hernia upper limb defects
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
Diastematomyelia
Diastrophic dysplasia
Dibasic aminoaciduria 1
Dibasic aminoaciduria 2
Dicarboxylic aminoaciduria
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
Die Smulders Droog Van Dijk syndrome
Die Smulders Vles Fryns syndrome
Diencephalic syndrome
Dieterich's disease
Diethylstilbestrol antenatal infection
Diffuse astrocytoma
Diffuse cavernous hemangioma of the rectum
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
Diffuse neonatal hemangiomatosis
Diffuse palmoplantar keratoderma Bothnian type
Diffuse panbronchiolitis
Diffuse scleroderma
Diffuse systemic sclerosis
DiGeorge syndrome
Digitorenocerebral syndrome
Dihydropteridine reductase deficiency
Dihydropyrimidine dehydrogenase deficiency
Dihydroxyadeninuria
Dilated cardiomyopathy
Dimauro disease
Dincsoy Salih Patel syndrome
Diomedi Bernardi Placidi syndrome
Dionisi Vici Sabetta Gambarara syndrome
Diphallia
Diphallus rachischisis imperforate anus
Diphosphoglycerate mutase deficiency of erythrocyte
Diphtheria
Diploid-triploid mosaicism
Diprosopia
Dipsogenic diabetes insipidus
Dissecting cellulitis of the scalp
Disseminated infection with mycobacterium avium complex
Distal arthrogryposis Moore Weaver type
Distal myopathy Markesbery-Griggs type
Distal myopathy with vocal cord weakness
Distal primary acidosis familial
Distichiasis heart congenital anomalies
Distomatosis
DK phocomelia syndrome
Dobrow syndrome
Dominant cleft palate
Dominant ichthyosis vulgaris
Donnai Barrow syndrome
Dopamine beta hydroxylase deficiency
Dosage-sensitive sex reversal
Double cortex syndrome
Double discordia
Double fingernail of fifth finger
Double nails on the fifth toe
Double outlet left ventricle
Double outlet right ventricle
Double tachycardia induced by catecholamines
Double uterus-hemivagina-renal agenesis
Dowling-Degos disease
Doxorubicin induced cardiomyopathy
Doyne honeycomb retinal dystrophy
Drachtman Weinblatt Sitarz syndrome
Dracunculiasis
Dravet syndrome
Duane anomaly mental retardation
Duane syndrome
Duane syndrome type 1
Duane syndrome type 2
Duane syndrome type 3
Duane-radial ray syndrome
Dubin-Johnson syndrome
Dubowitz syndrome
Duchenne muscular dystrophy
Duhring Brocq disease
Duker Weiss Siber syndrome
Duodenal atresia
Duodenal atresia tetralogy of Fallot
Duodenal ulcer due to antral G-cell hyperfunction
Duodenojejunal atresia with volvulus absent dorsal mesentery and absent superior mesenteric artery
Duplication of leg mirror foot
Duplication of the thumb unilateral biphalangeal
Duplication of urethra
Dupont Sellier Chochillon syndrome
Dupuytren subungual exostosis
Dwarfism bluish sclerae
Dwarfism deafness retinitis pigmentosa
Dwarfism familial with muscle spasms
Dwarfism lethal type advanced bone age
Dwarfism Levi type
Dwarfism stiff joint ocular abnormalities
Dwarfism tall vertebrae
Dwarfism thin bones multiple fractures
Dwarfism low-birth-weight type with unresponsiveness to growth hormone
Dwarfism mental retardation and eye abnormality
Dwarfism proportionate with hip dislocation
Dyggve-Melchior-Clausen syndrome
Dykes Markes Harper syndrome
Dysautonomia like disorder
Dyschondrosteosis nephritis
Dyschromatosis symmetrica hereditaria 1
Dyschromatosis universalis hereditaria
Dysembryoplastic neuroepithelial tumor
Dysequilibrium syndrome
Dysesthetic Vulvodynia
Dysferlinopathy
Dysfibrinogenemia
Dysgnathia complex
Dysharmonic skeletal maturation muscular fiber disproportion
Dyskeratosis congenita autosomal dominant
Dyskeratosis congenita autosomal recessive
Dyskeratosis congenita X-linked
Dyskinesia drug induced
Dysmorphism abnormal vocalization mental retardation
Dysmorphism cleft palate loose skin
Dysosteosclerosis
Dysostosis acral with facial and genital abnormalities
Dysostosis peripheral
Dysphasic dementia hereditary
Dysplasia epiphysealis hemimelica
Dysplastic cortical hyperostosis
Dysraphism cleft lip palate limb reduction defects
Dyssegmental dysplasia and glaucoma
Dyssegmental dysplasia Rolland-Desbuquois type
Dyssegmental dysplasia Silverman-Handmaker type
Dyssynergia cerebellaris myoclonica
Dystelephalangy
Dystonia 1
Dystonia 10
Dystonia 11
Dystonia 12
Dystonia 13
Dystonia 15 myoclonic
Dystonia 16
Dystonia 17
Dystonia 18
Dystonia 19
Dystonia 2 torsion autosomal recessive
Dystonia 3 torsion X-linked
Dystonia 4 torsion autosomal dominant type
Dystonia 5 Dopa-responsive type
Dystonia 6 torsion
Dystonia 7 torsion
Dystonia 8
Dystrophic epidermolysis bullosa
Dystrophinopathy

E - F Rare Diseases

EAF
Eagle syndrome
Eales disease
Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
Eastern equine encephalitis
Ebola virus disease
Ebstein's anomaly
Eccentrochondrodysplasia
Eccrine acrospiroma
Eccrine mucinous carcinoma
Eclampsia
Ectodermal dysplasia
Ectodermal dysplasia 2 hidrotic
Ectodermal dysplasia adrenal cyst
Ectodermal dysplasia alopecia preaxial polydactyly
Ectodermal dysplasia anhidrotic
Ectodermal dysplasia arthrogryposis diabetes mellitus
Ectodermal dysplasia Bartalos type
Ectodermal dysplasia Berlin type
Ectodermal dysplasia blindness
Ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia
Ectodermal dysplasia Margarita type
Ectodermal dysplasia mental retardation CNS malformation
Ectodermal dysplasia mental retardation syndactyly
Ectodermal dysplasia neurosensory deafness
Ectodermal dysplasia osteosclerosis
Ectodermal dysplasia skin fragility syndrome
Ectodermal dysplasia trichoodontoonychial type
Ectodermal dysplasia with natal teeth Turnpenny type
Ectodermal dysplasia hidrotic Christianson-Fourie type
Ectodermal dysplasia sensorineural hearing loss and distinctive facial features
Ectopia lentis isolated autosomal recessive
Ectopia pupillae
Ectopic ossification familial type
Ectopic pregnancy
Ectrodactyly and ectodermal dysplasia without cleft lip/palate
Ectrodactyly cardiopathy dysmorphism
Ectrodactyly cleft palate syndrome
Ectrodactyly polydactyly
Ectropion inferior cleft lip and or palate
Edinburgh malformation syndrome
Edwards Patton Dilly syndrome
Edwards syndrome
EEC syndrome
EEM syndrome
Egg shaped pupils
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome arthrochalasia type
Ehlers-Danlos syndrome Beasley Cohen type
Ehlers-Danlos syndrome dermatosparaxis type
Ehlers-Danlos syndrome dysfibronectinemic type
Ehlers-Danlos syndrome hypermobility type
Ehlers-Danlos syndrome kyphoscoliotic type
Ehlers-Danlos syndrome progeroid type
Ehlers-Danlos syndrome type 5
Ehlers-Danlos syndrome vascular type
Ehlers-Danlos syndrome classic type
Ehlers-Danlos-like syndrome due to tenascin-X deficiency
Ehrlichiosis
Eisenmenger syndrome
Elastosis perforans serpiginosa
Elective mutism
Elliott Ludman Teebi syndrome
Ellis Yale Winter syndrome
Ellis-Van Creveld syndrome
Emanuel syndrome
Embryonal carcinoma
Embryonal sarcoma
Emerinopathy
Emery Nelson syndrome
Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy dominant type
Emery-Dreifuss muscular dystrophy X-linked
Emphysema congenital lobar
Empty sella syndrome
Enamel hypoplasia cataract hydrocephaly
Encephalitis lethargica
Encephalocele
Encephalocele anencephaly
Encephalocraniocutaneous lipomatosis
Encephalomyopathy
Encephalopathy intracranial calcification growth hormone deficiency
microcephaly retinal degeneration
Encephalopathy progressive optic atrophy
Encephalopathy recurrent of childhood
Encephalopathy-basal ganglia-calcification
Enchondroma
Enchondromatosis dwarfism deafness
Endemic Kaposi sarcoma
Endocardial fibroelastosis
Endolymphatic sac tumors (ELST's) in Von Hippel Lindau (VHL) disease
Endometrial stromal sarcoma
Endomyocardial fibroelastosis
Endomyocardial fibrosis
Eng Strom syndrome
Engelhard Yatziv syndrome
Enlarged vestibular aqueduct syndrome
Enolase deficiency type 1
Enolase deficiency type 2
Enolase deficiency type 3
Enolase deficiency type 4
Enterobiasis
Enteropathica
Enteropathy-associated T-cell lymphoma
Enterovirus antenatal infection
Envenomization by bothrops lanceolatus
Eosinophilia-myalgia syndrome
Eosinophilic cryptitis
Eosinophilic cystitis
Eosinophilic enteropathy
Eosinophilic esophagitis
Eosinophilic fasciitis
Eosinophilic pustular folliculitis
Ependymoblastoma
Ependymoma
Epidermal nevus vitamin D resistant rickets
Epidermodysplasia verruciformis
Epidermolysa bullosa simplex with muscular dystrophy
Epidermolysis bullosa
Epidermolysis bullosa acquisita
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex Dowling-Meara type
Epidermolysis bullosa simplex generalized
Epidermolysis bullosa simplex localized
Epidermolysis bullosa simplex Ogna type
Epidermolysis bullosa late-onset localized junctional with mental retardation
Epidermolysis bullosa lethal acantholytic
Epidermolysis bullosa pretibial
Epilepsy benign neonatal dominant form
Epilepsy benign neonatal recessive form
Epilepsy juvenile absence
Epilepsy mental deterioration Finnish type
Epilepsy microcephaly skeletal dysplasia
Epilepsy occipital calcifications
Epilepsy progressive myoclonic type 3
Epilepsy telangiectasia
Epilepsy with myoclono-astatic crisis
Epilepsy benign occipital
Epilepsy female restricted with mental retardation
Epilepsy nocturnal frontal lobe type
Epilepsy partial familial
Epilepsy rolandic with paroxysmal exercise-induced dystonia and writer's cramp
Epileptic encephalopathy Lennox-Gastaut type
Epimerase deficiency
Epimetaphyseal dysplasia cataract
Epimetaphyseal skeletal dysplasia
Epiphyseal dysplasia dysmorphism camptodactyly
Epiphyseal dysplasia hearing loss dysmorphism
Epiphyseal dysplasia multiple with early-onset diabetes mellitus
Episodic ataxia
Episodic ataxia with nystagmus
Epithelial basement membrane corneal dystrophy
Epithelial-myoepithelial carcinoma
Epithelioid sarcoma
Epitheliopathy acute posterior multifocal placoid pigment
Erdheim-Chester disease
Ermine phenotype
Eronen Somer Gustafsson syndrome
Erosive pustular dermatosis of the scalp
Erysipelas
Erythema elevatum diutinum
Erythema multiforme
Erythema nodosum familial
Erythema nodosum idiopathic
Erythroderma desquamativa of Leiner
Erythroderma lethal congenital
Erythrokeratodermia ataxia
Erythrokeratodermia progressive symmetrica ichthyosis
Erythrokeratodermia symmetrica progressiva
Erythrokeratodermia variabilis ichthyosis
Erythrokeratodermia variabilis Mendes da Costa type
Erythrokeratodermia with ataxia
Erythromelalgia primary
Erythroplakia
Erythropoietic protoporphyria
Escher Hirt syndrome
Escobar syndrome type B
Esophageal atresia
Esophageal atresia associated anomalies
Esophageal atresia coloboma talipes
Esophageal cancer
Esophageal cancer childhood
Esophageal duodenal atresia abnormalities of hands
Esophageal varices
Esotropia
Essential thrombocythemia
Esthesioneuroblastoma
Ethylmalonic encephalopathy
Eunuchoidism familial hypogonadotropic
Evans syndrome
Ewing's family of tumors
Ewing's sarcoma
Exencephaly
Exercise induced anaphylaxis
Exercise-induced hyperinsulinemic hypoglycemia
Exertional headache
Exfoliative dermatitis
Exogenous lipoid pneumonia
Exogenous ochronosis
Exostoses anetodermia brachydactyly type E
Exostoses multiple type 1
Exostoses multiple type 2
Exostoses multiple type 3
Exstrophy of the bladder
Exstrophy of the bladder-epispadias
Exsudative retinopathy familial autosomal dominant
Exsudative retinopathy familial autosomal recessive
Exsudative retinopathy familial X-linked recessive
Exsudative retinopathy familial
Extracranial germ cell tumor childhood
Extragonadal germ cell tumor
Extrasystoles short stature hyperpigmentation microcephaly
Eyebrows duplication of with stretchable skin and syndactyly
Fabry disease
FACES syndrome
Facial asymetry temporal seizures
Facial clefting corpus callosum agenesis
Facial dysmorphism shawl scrotum joint laxity syndrome
Facial ectodermal dysplasia
Facies unusual arthrogryposis advanced skeletal malformations
Facio digito genital syndrome recessive form
Facio skeletal genital syndrome Rippberger type
Facio thoraco genital syndrome
Faciocardiomelic dysplasia lethal
Faciocardiorenal syndrome
Faciomandibular myoclonus nocturnal
Facioscapulohumeral muscular dystrophy 1A
Factor 2 deficiency
Factor V deficiency
Factor VII deficiency
Factor X deficiency
Factor X deficiency congenital
Factor XI deficiency congenital
Factor XII deficiency
Factor XIII deficiency
Fairbank disease
Fallopian tube cancer
Fallot complex with severe mental and growth retardation
Fallot tetralogy
Familial adenomatous polyposis
Familial aortic dissection
Familial arteriosclerotic leukoencephalopathy alopecia lumbago without arterial hypertension
Familial band heterotopia
Familial bilateral striatal necrosis
Familial capillaro-venous leptomeningeal angiomatosis
Familial cold autoinflammatory syndrome
Familial colorectal cancer
Familial congenital fourth cranial nerve palsy
Familial cylindromatosis
Familial deafness
Familial dermographism
Familial dilated cardiomyopathy
Familial encephalopathy with neuroserpin inclusion bodies
Familial eosinophilia
Familial erythrocytosis 1
Familial exudative vitreoretinopathy
Familial hyperlipo-proteinemia type 1
Familial hypersecretion of adrenal androgens
Familial hypersensitivity pneumonitis
Familial hypertrophic cardiomyopathy
Familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Familial hypopituitarism
Familial hypothyroidism
Familial idiopathic basal ganglia calcification
Familial interstitial fibrosis
Familial Mediterranean fever
Familial multiple trichodiscomas
Familial myelofibrosis
Familial nasal acilia
Familial neurocardiogenic syncope
Familial non-immune hyperthyroidism
Familial opposable triphalangeal thumbs duplication
Familial partial paralysis
Familial periodic paralysis
Familial platelet disorder with associated myeloid malignancy
Familial porencephaly
Familial prostate cancer
Familial pulmonary arterial hypertension leucopenia and atrial septal defect
Familial renal cell carcinoma
Familial streblodactyly
Familial symmetric lipomatosis
Familial transthyretin amyloidosis
Familial Treacher Collins syndrome
Familial ventricular tachycardia
Familial Wilms tumor 2
Familial young-adult-onset arteriosclerotic
Fanconi anemia
Fanconi Bickel syndrome
Fanconi ichthyosis dysmorphism
Fanconi like syndrome
Fanconi renotubular syndrome
Fara Chlupackova syndrome
Farber's disease
Farmer's lung
Fascioliasis
Fatal familial insomnia
Fatal infantile encephalomyopathy
Fatty acid hydroxylase-associated neurodegeneration
Faulk Epstein Jones syndrome
Faye-Petersen Ward Carey syndrome
Fazio Londe syndrome
Febrile Ulceronecrotic Mucha-Habermann disease
Feigenbaum Bergeron Richardson syndrome
Feigenbaum Bergeron syndrome
Feingold Trainer syndrome
Felty's syndrome
Femoral facial syndrome
Femur bifid with monodactylous ectrodactyly
Femur fibula ulna syndrome
Fenton Wilkinson Toselano syndrome
Ferlini Ragno Calzolari syndrome
Fernhoff Blackston Oakley syndrome
Fertile eunuch syndrome
Fetal akinesia syndrome X-linked
Fetal Alcohol Spectrum Disorders
Fetal aminopterin syndrome
Fetal and neonatal alloimmune thrombocytopenia
Fetal antihypertensive drugs syndrome
Fetal brain disruption sequence
Fetal diethylstilbestrol syndrome
Fetal edema
Fetal enterovirus syndrome
Fetal hydantoin syndrome
Fetal indomethacin syndrome
Fetal iodine syndrome
Fetal left ventricular aneurysm
Fetal macrosomia
Fetal methimazole syndrome
Fetal methyl mercury syndrome
Fetal minoxidil syndrome
Fetal parainfluenza virus type 3 syndrome
Fetal parvovirus syndrome
Fetal phenothiazine syndrome
Fetal retinoid syndrome
Fetal thalidomide syndrome
Fetal valproate syndrome
Fetal warfarin syndrome
FG syndrome
FG syndrome 2
FG syndrome 3
FG syndrome 4
Fibrinogen deficiency congenital
Fibrocartilaginous embolism
Fibrochondrogenesis
Fibrodysplasia ossificans progressiva
Fibrolipomatosis
Fibromatosis juvenile hyaline
Fibromatosis multiple non ossifying
Fibromuscular dysplasia
Fibrosarcoma
Fibrosing alveolitis
Fibrosing mediastinitis
Fibrous dysplasia
Fibula aplasia complex brachydactyly
Fibular aplasia
Fibular aplasia ectrodactyly
Fibular hypoplasia and complex brachydactyly
Fibular hypoplasia scapulo pelvic dysplasia absent
Filippi syndrome
Fine-Lubinsky syndrome
Finger locking recurrent with intrauterine growth retardation and proportionate short stature
Fish-eye disease
Fistulous vegetative verrucous hydradenoma
Fitz-Hugh-Curtis syndrome
Fitzsimmons syndrome
Fitzsimmons Walson Mellor syndrome
Fitzsimmons-Guilbert syndrome
Flat umbilicus familial
Flaujeac factor deficiency
Flavimonas oryzihabitans
Floating-Harbor syndrome
Florid cemento-osseous dysplasia
Florid cystic endosalpingiosis of the uterus
Florid papillomatosis of the nipple
FLOTCH syndrome
Flynn Aird syndrome
Focal alopecia congenital megalencephaly
Focal cortical dysplasia of Taylor
Focal dermal hypoplasia
Focal dystonia
Focal facial dermal dysplasia
Focal or multifocal malformations in neuronal migration
Foix Chavany Marie syndrome
Follicle-stimulating hormone deficiency isolated
Follicular dendritic cell tumor
Follicular lymphoma
Follicular lymphoreticuloma
Fontaine Farriaux Blanckaert syndrome
Forbes Albright syndrome
Formaldehyde poisoning
Forney Robinson Pascoe syndrome
Fountain syndrome
Fowler's syndrome
Fox-Fordyce disease
Fragile X syndrome
Fragile X syndrome type 1
Fragile X syndrome type 2
Fragile X syndrome type 3
Fragile XE syndrome
Fragoso Cid Garcia Hernandez syndrome
Franceschini Vardeu Guala syndrome
Franek Bocker kahlen syndrome
Frank Ter Haar syndrome
Fraser Jequier Chen syndrome
Fraser like syndrome
Fraser syndrome
Frasier syndrome
FRAXD
Freeman Sheldon syndrome
Freiberg's disease
Freire-Maia odontotrichomelic syndrome
Frenkel Russe syndrome
Frey's syndrome
Frias syndrome
Friedel Heid Grosshans syndrome
Friedman Goodman syndrome
Friedreich ataxia
Friedreich ataxia congenital glaucoma
Frints De Smet Fabry Fryns syndrome
Froelich syndrome
Fronto nasal malformation cloacal exstrophy
Frontofacionasal dysplasia
Frontometaphyseal dysplasia
Frontonasal dysplasia
Frontonasal dysplasia acromelic
Frontonasal dysplasia Klippel Feil syndrome
Frontonasal dysplasia phocomelic upper limbs
Frontotemporal dementia
Frontotemporal dementia ubiquitin-positive
Froster huch syndrome
Fructose-1 6-bisphosphatase deficiency
Fryns Fabry Remans syndrome
Fryns Hofkens Fabry syndrome
Fryns smeets thiry syndrome
Fryns syndrome
Fuchs atrophia gyrata chorioideae et retinae
Fuchs heterochromic iridocyclitis
Fucosidosis
Fucosidosis type 1
Fuhrmann syndrome
Fukuda Miyanomae Nakata syndrome
Fukuyama type muscular dystrophy
Fumaric aciduria
Functioning pancreatic endocrine tumor
Fundus dystrophy pseudoinflammatory of Sorsby
Fuqua Berkovitz syndrome
Furunculous myiasis
Fused mandibular incisors

G - H Rare Diseases

Galactocele
Galactokinase deficiency
Galactorrhoea-Hyperprolactinaemia
Galactose epimerase deficiency
Galactosemia
Galactosialidosis
Gall bladder cancer
Game Friedman Paradice syndrome
Gamma aminobutyric acid transaminase deficiency
Gamma heavy chain disease
Gamma-cystathionase deficiency
Gangliocytoma
Ganglioglioma
Gangliosidosis generalized GM1 type 1
Gangliosidosis GM1 type 3
Gangliosidosis generalized GM1 type 2
GAPO syndrome
Gardner Morrison Abbot syndrome
Gardner syndrome
Gardner-Diamond syndrome
Garret Tripp syndrome
Gas bloat syndrome
Gastric duplication cysts
Gastric lymphoma
Gastro-enteropancreatic neuroendocrine tumor
Gastrocutaneous syndrome
Gastrointestinal Stromal Tumors
Gastroschisis
Gata1 Gene
Gaucher disease
Gaucher disease perinatal lethal
Gaucher disease type 1
Gaucher disease type 2
Gaucher disease type 3
Gaucher ichthyosis restrictive dermopathy
Gaucher-like disease
Gay Feinmesser Cohen syndrome
Gelatinous ascites
Geleophysic dwarfism
Gemignani syndrome
Genee-Wiedemann syndrome
Generalized dominant dystrophic epidermolysis bullosa
Generalized resistance to thyroid hormone
Generalized torsion dystonia
Genetic reflex epilepsy
Geniospasm
Genital dwarfism
Genital dwarfism Turner type
Genito palato cardiac syndrome
Genoa syndrome
Genochondromatosis
Genu valgum st Helena familial
Geographic tongue
German syndrome
Germinoma
Geroderma osteodysplasticum
Gershinibaruch Leibo syndrome
Gershoni-Baruch syndrome
Gerstmann syndrome
Gestational diabetes insipidus
Gestational trophoblastic tumor
Ghosal hematodiaphyseal dysplasia syndrome
Ghosal syndrome
Ghose Sachdev Kumar syndrome
Gianotti Crosti syndrome
Giant axonal neuropathy
Giant cell myocarditis
Giant congenital nevus
Giant ganglionic hyperplasia
Giant mammary hamartoma
Giant papillary conjunctivitis
Giant platelet syndrome
Gigantism
Gigantism advanced bone age hoarse cry
Gigantomastia
Gingival fibromatosis with distinctive facies
Gingival fibromatosis with hypertrichosis
Gingival fibromatosis 1
Gingival fibromatosis 2
Gingival fibromatosis 3
Gingival fibromatosis 4
Gitelman syndrome
Glanders
Glanzmann thrombasthenia
Glass Chapman Hockley syndrome
Glassy cell carcinoma of the cervix
Glaucoma 3 primary infantile B
Glaucoma iridogoniodysgenesia
Glaucoma sleep apnea
Glaucoma type 1C
Glaucoma congenital
Glaucoma Ectopia Microspherophakia Stiff joints and Short stature syndrome
Glaucoma hereditary
Glaucoma hereditary adult type 1A
Glaucoma hereditary juvenile type 1B
Glaucoma primary infantile type 3A
Glioblastoma
Glioma
Gliomatosis cerebri
Gliosarcoma
Global disaccharide intolerance
Glomerulonephritis
Glomerulonephritis with sparse hair and telangiectases
Glomerulopathy with fibronectin deposits 1
Glomerulopathy with fibronectin deposits 2
Glomus jugulare tumors
Glomus tympanicum tumor
Glomus vagale tumors
Glossodynia
Glossopalatine ankylosis micrognathia ear anomalies
Glossopharyngeal neuralgia
Glucagonoma
Glucagonoma syndrome
Glucocorticoid deficiency familial
Glucocorticoid resistance
Glucocorticoid-remediable aldosteronism
Glucose 6 phosphate dehydrogenase deficiency
Glucose transporter type 1 deficiency syndrome
Glucose-6-phosphate translocase deficiency
Glucose-galactose malabsorption
Glucosephosphate isomerase deficiency
Glucosidase acid-1 4-alpha deficiency
Glut2 deficiency
Glutamate decarboxylase deficiency
Glutamate formiminotransferase deficiency
Glutamine deficiency congenital
Glutaric acidemia type I
Glutaric acidemia type II
Glutathione synthetase deficiency
Glutathionuria
Glyceraldehyde-3-phosphate dehydrogenase deficiency
Glycine encephalopathy
Glycine N-methyltransferase deficiency
Glycogen storage disease 8
Glycogen storage disease type 0
Glycogen storage disease type 0 muscle
Glycogen storage disease type 12
Glycogen storage disease type 13
Glycogen storage disease type 1A
Glycogen storage disease type 1B
Glycogen storage disease type 2
Glycogen storage disease type 3
Glycogen storage disease type 4
Glycogen storage disease type 5
Glycogen storage disease type 6
Glycogen storage disease type 6 due to phosphorylation
Glycogen storage disease type 7
Glycoproteinosis
Glycosylphosphatidylinositol deficiency
GM2 gangliosidosis 0 variant
GM2-gangliosidosis B B1 AB variant
Gms syndrome
Gnathostoma Infection
Goblet cell carcinoma
Goldberg-Shprintzen megacolon syndrome
Goldenhar disease
Goldmann-Favre syndrome
Goldstein Hutt syndrome
Gollop Coates syndrome
Gollop syndrome
GOMBO syndrome
Gomez Lopez Hernandez syndrome
Gonadal dysgenesis
Gonadal dysgenesis mixed
Gonadal dysgenesis Turner type
Gonadal dysgenesis XY type associated anomalies
Gonadal dysgenesis XX type
Goniodysgenesis mental retardation short stature
Gonococcal conjunctivitis
Gonzales Del Angel syndrome
Good syndrome
Goodman syndrome
Goodpasture syndrome
Gordon syndrome
Gorlin Bushkell Jensen syndrome
Gorlin Chaudhry Moss syndrome
Gouty nephropathy familial
Gracile bone dysplasia
GRACILE syndrome
Graham Boyle Troxell syndrome
Grand Kaine Fulling syndrome
Grant syndrome
Granulocytopenia
Granuloma annulare
Granuloma Inguinale
Granulomas congenital cerebral
Granulomatous Angiitis of the Central Nervous System
Granulomatous hypophysitis
Granulomatous rosacea
Granulosa cell tumor of the ovary
Graphite Pneumoconiosis
Graves' disease
Gray platelet syndrome
Green Sandford Davison syndrome
Greig cephalopolysyndactyly syndrome
Griscelli syndrome type 1
Griscelli syndrome type 2
Griscelli syndrome type 3
Grix Blankenship Peterson syndrome
Groenouw type I corneal dystrophy
Groll Hirschowitz syndrome
Grosse syndrome
Group B strep disease in newborns
Growth and mental retardation mandibulofacial dysostosis microcephaly and cleft palate
Growth deficiency brachydactyly unusual facies
Growth hormone deficiency
Growth hormone insensitivity with immunodeficiency
Growth mental deficiency syndrome of Myhre
Growth retardation alopecia pseudoanodontia optic
Growth retardation hydrocephaly lung hypoplasia
Growth retardation mental retardation phalangeal hypoplasia
Grubben de Cock Borghgraef syndrome
GTP cyclohydrolase I deficiency
Guanidinoacetate methyltransferase deficiency
Guillain-Barre syndrome
Guizar Vasquez Sanchez Manzano syndrome
Gupta Patton syndromev Gurrieri syndrome
Guttate psoriasis
Gynandroblastoma
Haemophilus influenzae
Hailey-Hailey disease
Haim-Munk syndrome
Hair defect with photosensitivity and mental retardation
Hairy cell leukemia
Hairy elbows
Hairy nose tip
Hairy palms and soles
Hairy tongue
Halal Setton Wang syndrome
Halal syndrome
Hall Riggs mental retardation syndrome
Hallermann-Streiff syndrome
Halo nevi
Hamanishi Ueba Tsuji syndrome
Hamano Tsukamoto syndrome
Hand and foot deformity with flat facies
Hand foot uterus syndrome
Hand-Schuller-Christian disease
Hanhart syndrome
Hansen's disease
Hantavirosis
Hantavirus pulmonary syndrome
Hard skin syndrome Parana type
Hardikar syndrome
Harding ataxia
Harlequin ichthyosis
Harlequin syndrome
Harrod Doman Keele syndrome
Hartnup disease
Hashimoto's encephalitis
Hashimoto-Pritzker syndrome
Hawkinsinuria
Hay-Wells syndrome
Heart defect tongue hamartoma and polysyndactyly
Heart tumor
Heart-hand syndrome Slovenian type
Heart-hand syndrome Spanish type
Heavy metal poisoning
HEC syndrome
Hecht Scott syndrome
Heinz body anemias
HELLP syndrome
Helminthiasis
Hemangioblastoma
Hemangioendothelioma
Hemangioma thrombocytopenia syndrome
Hemangiomatosis familial pulmonary capillary
Hemangiopericytoma
Hemeralopia congenital essential
Hemeralopia familial
Hemi 3 syndrome
Hemicrania continua
Hemifacial atrophy agenesis of the caudate nucleus
Hemifacial hyperplasia strabismus
Hemifacial myohyperplasia
Hemihypertrophy intestinal web corneal opacity
Hemimegalencephaly
Hemiplegia
Hemiplegic migraine
Hemiplegic migraine familial type 1
Hemiplegic migraine familial type 2
Hemochromatosis type 2
Hemochromatosis type 3
Hemochromatosis type 4
Hemoglobin C disease
Hemoglobin E disease
Hemoglobin SC disease
Hemoglobin sickle-beta thalassemia
Hemoglobin Zurich
Hemoglobinemia
Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities
Hemolytic uremic syndrome
Hemolytic uremic syndrome atypical
Hemolytic uremic syndrome atypical childhood
Hemophagocytic lymphohistiocytosis
Hemophagocytic lymphohistiocytosis familial 2
Hemophagocytic lymphohistiocytosis familial 3
Hemophagocytic lymphohistiocytosis familial 4
Hemophagocytic reticulosis
Hemophilia
Hemophilia A acquired
Hemophilia A congenital
Hemophilia B
Hemophilic arthropathy
Hemorrhagic fever
Hemorrhagic proctocolitis
Hemorrhagic shock and encephalopathy syndrome
Hemosiderosis
Hennekam syndrome
Hennekam Van der Horst syndrome
Henoch-Schonlein purpura
Hepadnavirus infection
Heparane sulfamidase deficiency
Heparin induced thrombocytopenia
Hepatic cystic hamartoma
Hepatic encephalopathy
Hepatic fibrosis renal cysts mental retardation
Hepatic venoocclusive disease with immunodeficiency
Hepatitis E
Hepatitis X (non-A -B -C -D -E)
Hepatoblastoma
Hepatocellular carcinoma (fibrolamellar variant)
Hepatocellular carcinoma adult
Hepatocellular carcinoma childhood
Hepatoerythropoietic porphyria
Hepatorenal syndrome
Hereditary amyloidosis
Hereditary angioedema
Hereditary ataxia
Hereditary cerebellar ataxia syndrome of early onset
Hereditary cerebral hemorrhage with amyloidosis
Hereditary congenital facial paresis
Hereditary coproporphyria
Hereditary elliptocytosis
Hereditary endotheliopathy retinopathy nephropathy and stroke
Hereditary fructose intolerance
Hereditary hemorrhagic telangiectasia
Hereditary hemorrhagic telangiectasia type 2
Hereditary hemorrhagic telangiectasia type 3
Hereditary hemorrhagic telangiectasia type 4
Hereditary hyperekplexia
Hereditary hyperuricemia
Hereditary koilonychia
Hereditary lymphedema type II
Hereditary methemoglobinemia recessive
Hereditary mucoepithelial dysplasia
Hereditary multiple osteochondromas
Hereditary myopathy with intranuclear filamentous
Hereditary neuralgic amyotrophy
Hereditary neuropathy with liability to pressure palsy
Hereditary nodular heterotopia
Hereditary orotic aciduria without megaloblastic anaemia
Hereditary pancreatitis
Hereditary paroxysmal cerebral ataxia
Hereditary peripheral nervous disorder
Hereditary primary Fanconi disease
Hereditary resistance to anti-vitamin K
Hereditary sensory and autonomic neuropathy 3
Hereditary sensory and autonomic neuropathy type 2
Hereditary spastic paraplegia
Hereditary spherocytosis
Hereditary type 1 neuropathy
Hereditary type 2 neuropathy
Hereditary vascular retinopathy
Hermansky Pudlak syndrome 2
Hermansky-Pudlak syndrome
Herpes simiae (B virus)
Herpes simplex encephalitis
Herpes virus antenatal infection
Herpes zoster ophthalmicus
Herpes zoster oticus
Herpesvirus simiae B virus
Herpetic embryopathy
Herpetic keratitis
Herrmann Opitz arthrogryposis syndrome
Herrmann Opitz craniosynostosis
Herrmann syndrome
Hersh Podruch Weisskopk syndrome
Heterochromia iridis
Heterotaxia autosomal dominant type
Heterotaxy with polysplenia or asplenia
Heterotaxy visceral X-linked
Hexokinase deficiency hemolytic anemia
HHV-6 encephalitis
Hidradenitis suppurativa familial
Hidradenocarcinoma
High-molecular-weight kininogen deficiency congenital
Hillig syndrome
Hing Torack Dowston syndrome
Hinson-Pepys disease
Hip luxation
Hip subluxation
Hipo syndrome
Hirschsprung disease ganglioneuroblastoma
Hirschsprung disease polydactyly heart disease
Hirschsprung disease type 2
Hirschsprung disease type 3
Hirschsprung disease type d brachydactyly
Hirschsprung microcephaly cleft palate
Hirschsprung nail hypoplasia dysmorphism
Hirschsprung's disease
Hirsutism skeletal dysplasia mental retardation
His bundle tachycardia
Histidinemia
Histidinuria renal tubular defect
Histiocytosis with joint contractures and sensorineural deafness
Histiocytosis Non-Langerhans-Cell
Hittner Hirsch Kreh syndrome
Hm syndrome
HMG CoA lyase deficiency
HMG CoA synthetase deficiency
Ho Kaufman Mcalister syndrome
Hodgkin disease X-linked pseudoautosomal
Hodgkin lymphoma
Hodgkin lymphoma childhood
Hodgkin lymphoma during pregnancy
Holmes Borden syndrome
Holmes Collins syndrome
Holoacardius amorphus
Holocarboxylase synthetase deficiency
Holoprosencephaly
Holoprosencephaly caudal dysgenesis
Holoprosencephaly deletion 2p
Holoprosencephaly ectrodactyly cleft lip palate
Holoprosencephaly radial heart renal anomalies
Holoprosencephaly recurrent infections and monocytosis
Holt-Oram syndrome
Holzgreve syndrome
Homocarnosinosis
Homocysteinemia
Homocysteinemia due to MTHFR deficiency
Homocystinuria
Homocystinuria due to CBS deficiency
Homocystinuria due to defect in methylation cbl e
Homocystinuria due to defect in methylation cbl g
Homologous wasting disease
Hooft disease
Hoon Hall syndrome
Hordnes Engebretsen Knudtson syndrome
Horn Kolb syndrome
Horner's syndrome
Hornova Dlurosova syndrome
Horseshoe kidney
Horton?Ž“s disease
Houlston Ironton Temple syndrome
Howard Young syndrome
Howel-Evans syndrome
Hoyeraal Hreidarsson syndrome
Hoyeraal syndrome
HTLV-1 associated myelopathy/tropical spastic paraparesis
Human granulocytic ehrlichiosis
Human monocytic ehrlichiosis
Human parvovirus B19 infection
Human spumaretrovirus infection
Human T-cell leukemia virus type 1
Human T-cell leukemia virus type 2
Human T-cell leukemia virus type 3
Humeroradial synostosis
Humeroradioulnar synostosise
Hunter Macpherson syndrome
Hunter Mcdonald syndrome
Hunter Rudd Hoffmann syndrome
Hunter-McAlpine syndrome
Huntington disease
Hurst Hallam Hockey syndrome
Hutchinson incisors
Hutterite cerebroosteonephrodysplasia syndrome
Hutteroth Spranger syndrome
Hyalinosis systemic short stature
Hydatidiform mole
Hydatidosis
Hyde Forster Mccarthy Berry syndrome
Hydranencephaly
Hydroa vacciniforme
Hydroa vacciniforme familial
Hydrocephalus
Hydrocephalus autosomal recessive
Hydrocephalus costovertebral dysplasia Sprengel anomaly
Hydrocephalus craniosynostosis bifid nose
Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Hydrocephalus endocardial fibroelastosis cataract
Hydrocephalus growth retardation skeletal anomalies
Hydrocephalus obesity hypogonadism
Hydrocephalus skeletal anomalies
Hydrocephaly corpus callosum agenesis diaphragmatic hernia
Hydrocephaly low insertion umbilicus
Hydrocephaly tall stature joint laxity
Hydrolethalus syndrome
Hydronephrosis peculiar facial expression
Hydrops ectrodactyly syndactyly
Hydrops fetalis
Hydrops fetalis anemia immune disorder absent thumb
Hydrops Ectopic calcification Moth-eaten skeletal dysplasia
Hydroxycarboxylic aciduria
Hydroxykynureninuria
Hydroxyprolinemia
Hygroma cervical
Hymenolepiasis
Hyper-IgD syndrome
Hyper-reninism
Hyperacusis
Hyperadrenalism
Hyperaldosteronism familial type 2
Hyperbetaalaninemia
Hyperbilirubinemia transient familial neonatal
Hyperbilirubinemia type 1
Hyperbilirubinemia type 2
Hypercalcinuria macular coloboma
Hypercementosis
Hyperekplexia hereditary
Hypereosinophilic syndrome
Hyperferritinemia cataract syndrome
Hyperglycerolemia
Hyperglycinemia isolated nonketotic
Hyperglycinemia isolated nonketotic type 1
Hyperglycinemia isolated nonketotic type 2
Hypergonadotropic ovarian failure familial or sporadic
Hyperimidodipeptiduria
Hyperimmunoglobulinemia D syndrome (HIDS)
Hyperinsulinemic hypoglycemia familial 2
Hyperinsulinemic hypoglycemia familial 3
Hyperinsulinism due to glucokinase deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
Hyperinsulinism diffuse
Hyperinsulinism focal
Hyperinsulinism-hyperammonemia syndrome
Hyperkalemic periodic paralysis
Hyperkeratosis lenticularis perstans
Hyperkeratosis palmoplantar localized acanthokeratolytic
Hyperkeratosis palmoplantar localized epidermolytic
Hyperlipoproteinemia type 1
Hyperlipoproteinemia type 2
Hyperlipoproteinemia type 3
Hyperlipoproteinemia type 4
Hyperlipoproteinemia type 5
Hyperlysinemia
Hypermanganesemia with dystonia polycythemia and cirrhosis
Hyperornithinemia
Hyperostosis cortical infantile

Hyperostosis corticalis generalisata Hyperostosis corticalis generalisata benign form of Worth with torus palatinus
Hyperostosis-hyperphosphatemia syndrome
Hyperoxaluria
Hyperparathyroidism familial primary
Hyperparathyroidism neonatal severe primary
Hyperparathyroidism primary
Hyperparathyroidism-jaw tumor syndrome
Hyperphenilalaninemia due to pterin-4-alpha-carbin
Hyperphenylalaninemia due to dehydratase deficiency
Hyperpipecolatemia
Hyperprolinemia
Hyperprolinemia type 2
Hypersensitivity vasculitis
Hypertelorism and tetralogy of Fallot
Hypertensive hypokalemia familial
Hyperthermia induced defects
Hyperthyroidism due to mutations in TSH receptor
Hypertrichosis atrophic skin ectropion macrostomia
Hypertrichosis congenital generalized X-linked
Hypertrichosis lanuginosa congenita
Hypertrichosis lanuginosa acquired
Hypertrichosis anterior cervical
Hypertrichosis hyperkeratosis mental retardation and distinctive facial features
Hypertrichotic osteochondrodysplasia
Hypertrophic branchial myopathy
Hypertrophic hemangiectasia
Hypertrophic neuropathy of Dejerine-Sottas
Hypertrophic osteoarthropathy primary or idiopathic
Hypertryptophanemia
Hypnic headache
Hypoadrenalism
Hypoaldosteronism
Hypoalphalipoproteinemia primary
Hypobetalipoproteinaemia ataxia hearing loss
Hypobetalipoproteinemia familial
Hypocalcemia autosomal dominant
Hypochondroplasia
Hypocomplementemic urticarial vasculitis
Hypodermyasis
Hypodontia dysplasia of nails
Hypodontia of incisors and premolars
Hypodontia X-linked
Hypofibrinogenemia familial
Hypoglycemia with deficiency of glycogen synthetase in the liver
Hypogonadism cardiomyopathy
Hypogonadism male mental retardation skeletal anomaly
Hypogonadism mitral valve prolapse mental retardation
Hypogonadism primary partial alopecia
Hypogonadism retinitis pigmentosa
Hypogonadism alopecia diabetes mellitus mental retardation and extrapyramidal syndrome
Hypogonadism isolated hypogonadotropic
Hypogonadotropic hypogonadism without anosmia X-linked
Hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia autosomal dominant
Hypohidrotic ectodermal dysplasia autosomal recessive
Hypohidrotic ectodermal dysplasia with immune deficiency
Hypokalemic periodic paralysis
Hypoketonemic hypoglycemia
Hypolipoproteinemia
Hypomagnesemia 2 renal
Hypomagnesemia primary
Hypomandibular faciocranial dysostosis
Hypomelanosis of Ito
Hypomelanotic disorder
Hypomelia mullerian duct anomalies
Hypoparathyroidism
Hypoparathyroidism familial isolated
Hypoparathyroidism retardation dysmorphism syndrome
Hypoparathyroidism short stature mental retardation
Hypoparathyroidism X-linked
Hypopharyngeal cancer
Hypophosphatasia
Hypophosphatasia childhood
Hypophosphatemic rickets
Hypopituitarism
Hypopituitarism micropenis cleft lip palate
Hypopituitarism postaxial polydactyly
Hypoplasia hepatic ductular
Hypopituitarism postaxial polydactylyc
Hypoplastic right heart syndrome
Hypoplastic thumb mullerian aplasia
Hypoplastic thumbs hydranencephaly
Hyporeninemic hypoaldosteronism
Hyposmia nasal hypoplasia hypogonadism
Hypospadias familial
Hypospadias mental retardation Goldblatt type
Hypotelorism cleft palate hypospadias
Hypothalamic dysfunction
Hypothalamic hamartomas
Hypothyroidism due to iodide transport defect
Hypothyroidism postaxial polydactyly mental retardation
Hypotonia congenital nystagmus ataxia and abnormal auditory brainstem response
Hypotonic sclerotic muscular dystrophy
Hypotrichosis simplex
Hypoxanthine guanine phosphoribosyltransferase deficiency

I - J Rare Diseases

I cell disease
IBIDS syndrome
ICF syndrome
Ichthyosiform erythroderma corneal involvement deafness
Ichthyosiform erythroderma nonbullous congenital
Ichthyosis alopecia eclabion ectropion mental retardation
Ichthyosis and male hypogonadism
Ichthyosis bullosa of Siemens
Ichthyosis cheek eyebrow syndrome
Ichthyosis congenita biliary atresia
Ichthyosis deafness mental retardation skeletal anomaly
Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis hepatosplenomegaly cerebellar degeneration
Ichthyosis hystrix gravior
Ichthyosis hystrix Curth Macklin type
Ichthyosis lamellar 1
Ichthyosis lamellar 2
Ichthyosis lamellar 3
Ichthyosis lamellar autosomal dominant
Ichthyosis linearis circumflexa
Ichthyosis mental retardation dwarfism renal impairment
Ichthyosis prematurity syndrome
Ichthyosis tapered fingers midline groove up
Ichthyosis vulgaris
Ichthyosis with hypotrichosis autosomal recessive
Ichthyosis acquired
Ichthyosis erythrokeratolysis hemalis
Ichthyosis follicular
Ichthyosis leukocyte vacuoles alopecia and sclerosing cholangitis
Ichthyosis mental retardation dwarfism and renal impairment
Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin
Idiopathic acute eosinophilic pneumonia
Idiopathic adolescent scoliosis
Idiopathic alveolar hypoventilation syndrome
Idiopathic basal ganglia calcification childhood-onset
Idiopathic diffuse interstitial fibrosis
Idiopathic dilatation of the pulmonary artery
Idiopathic dilated cardiomyopathy
Idiopathic double athetosis
Idiopathic eosinophilic chronic pneumopathy
Idiopathic hypersomnia
Idiopathic juxtafoveal retinal telangiectasia
Idiopathic myopathy
Idiopathic pulmonary fibrosis
Idiopathic pulmonary hemosiderosis
Idiopathic pulmonary hypertension
Idiopathic subglottic tracheal stenosis
Idiopathic thrombocytopenic purpura
Iida Kannari syndrome
IgM deficiency
Illum syndrome
Imaizumi Kuroki syndrome
Imerslund-Grasbeck syndrome
Iminoglycinuria
Immotile cilia syndrome due to defective radial spokes
Immune defect due to absence of thymus
Immune deficiency familial variable
Immune dysfunction with T-cell inactivation due to calcium entry defect 1
Immune dysfunction with T-cell inactivation due to calcium entry defect 2
Immune thrombocytopenia
Immunodeficiency with hyper IgM type 1
Immunodeficiency with hyper IgM type 2
Immunodeficiency with hyper IgM type 3
Immunodeficiency with hyper IgM type 4
Immunodeficiency with hyper IgM type 5
Immunodeficiency without anhidrotic ectodermal dysplasia
Immunodeficiency microcephaly with normal intelligence
Immunodysregulation polyendocrinopathy and enteropathy X-linked
Immunoglobulin A deficiency 2
Impairment of oral perception
Imperforate anus
Imperforate oropharynx costo vetebral anomalies
Impossible syndrome
Inappropriate Sinus Tachycardia
Inborn amino acid metabolism disorder
Inborn renal aminoaciduria
Inclusion body myopathy 2
Inclusion body myopathy 3
Inclusion body myositis
Inclusion conjunctivitis
Incontinentia pigmenti
Indolent B cell lymphoma
Indomethacin antenatal infection
Infant epilepsy with migrant focal crisis
Infantile apnea
Infantile axonal neuropathy
Infantile convulsions and paroxysmal choreoathetosis familial
Infantile digital fibromatosis
Infantile histiocytoid cardiomyopathy
Infantile multisystem inflammatory disease
Infantile myofibromatosis
Infantile onset spinocerebellar ataxia
Infantile Parkinsonism-dystonia
Infantile recurrent chronic multifocal osteomyolitis
Infantile scoliosis
Infantile sialic acid storage disorder
Infantile spasms broad thumbs
Infantile striato thalamic degeneration
Infantile-onset ascending hereditary spastic paralysis
Infectious arthritis
Infectious myocarditis
Infective endocarditis
Infective myositis
Inflammatory breast cancer
Inflammatory linear verrucous epidermal nevus
Inflammatory myofibroblastic tumor
Infundibulopelvic dysgenesis
Inherited hypoprothrombinemia
Inherited peripheral neuropathy
Iniencephaly
Insensitivity to pain congenital with anhidrosis
Insulin autoimmune syndrome
Insulin-like growth factor 1 resistance to
Insulin-like growth factor I deficiency
Insulin-resistance type B
Insulin-resistant acanthosis nigricans type A
Insulinoma
Intellectual deficit Buenos-Aires type
Intercellular cholesterol esterification disease
Interferon gamma receptor 1 deficiency
Internal carotid agenesis
Intervertebral disc disease
Intestinal atresia multiple
Intestinal neuronal displaysia
Intestinal pseudo-obstruction
Intestinal pseudoobstruction neuronal chronic idiopathic X-linked
Intracranial aneurysms multiple congenital anomaly
Intracranial arteriovenous malformation
Intracranial Hypertension
Intractable hiccups
Intrahepatic cholangiocarcinoma
Intraocular melanoma
Intrathoracic kidney vertebral fusion
Intrauterine growth retardation mandibular malar hypoplasia
Intrauterine growth retardation with increased mitomycin C sensitivity
Intrauterine infections
Intravascular papillary endothelial hyperplasia
Intravenous leiomyomatosis
Intrinsic factor congenital deficiency of
Iodine antenatal infection
IRAK4 deficiency
Iridocorneal endothelial syndrome
Iridogoniodysgenesis and skeletal anomalies
Iridogoniodysgenesis type1
Iridogoniodysgenesis dominant type
Iris coloboma with ptosis hypertelorism and mental retardation
Iris dysplasia hypertelorism deafness
Iris hypoplasia and glaucoma
Irons Bhan syndrome
Isaac's syndrome
Ischiadic hypoplasia renal dysfunction immunodeficiency
Ischiopatellar dysplasia
Isobutyryl-CoA dehydrogenase deficiency
Isolated growth hormone deficiency type 1A
Isolated growth hormone deficiency type 1B
Isolated growth hormone deficiency type 2
Isolated growth hormone deficiency type 3
Isosporiasis
Isotretinoin embryopathy like syndrome
Isovaleric acidemia
Isthmian coarctation
ITCH E3 ubiquitin ligase deficiency
Ivemark syndrome
IVIC syndrome
Jackson-Weiss syndrome
Jacobsen syndrome
Jaffer Beighton syndrome
Jamaican vomiting sickness
Jankovic Rivera syndrome
Jansen type metaphyseal chondrodysplasia
Japanese encephalitis
Jarcho Levin syndrome
Jejunal atresia
Jejunal atresia with renal adysplasia
Jensen syndrome
Jervell and Lange-Nielsen syndrome 2
Jervell Lange-Nielsen syndrome
Jeune syndrome
Jeune syndrome situs inversus
Johanson Blizzard syndrome
Johnson Hall Krous syndrome
Johnson Munson syndrome
Johnson neuroectodermal syndrome
Johnston Aarons Schelley syndrome
Joint laxity familial
Jones Hersh Yusk syndrome
Jones syndrome
Jorgenson Lenz syndrome
Joubert syndrome
Joubert syndrome 2
Joubert syndrome with ocular anomalies
Joubert syndrome with oculorenal anomalies
Joubert syndrome with renal anomalies
Juberg Hayward syndrome
Juberg Marsidi syndrome
Judge Misch Wright syndrome
Jumping Frenchmen of Maine
Junctional epidermolysis bullosa
Junctional epidermolysis bullosa inversa
Junctional epidermolysis bullosa with pyloric atresia
Junctional epidermolysis bullosa Herlitz type
Junctional epidermolysis bullosa non-Herlitz type
Jung Wolff Back Stahl syndrome
Juvenile dermatomyositis
Juvenile gout
Juvenile Huntington disease
Juvenile macular degeneration and hypotrichosis
Juvenile myelomonocytic leukemia
Juvenile myoclonic epilepsy
Juvenile osteoporosis
Juvenile polyposis syndrome
Juvenile primary lateral sclerosis
Juvenile retinoschisis
Juvenile Scleroderma
Juvenile temporal arteritis
Juvenile-onset dystonia

K - L Rare Diseases

Kabuki syndrome
Kallikrein hypertension
Kallmann syndrome
Kallmann syndrome 1
Kallmann syndrome 2
Kallmann syndrome 3
Kallmann syndrome 4
Kallmann syndrome 5
Kallmann syndrome 6
Kanzaki disease
Kaolin pneumoconiosis
Kaplan Plauchu Fitch syndrome
Kaplowitz Bodurtha syndrome
Kaposiform Hemangioendothelioma
Kapur Toriello syndrome
Karak syndrome
Karandikar Maria Kamble syndrome
Kartagener syndrome
Kashani Strom Utley syndrome
Kasznica Carlson Coppedge syndrome
Katsantoni Papadakou Lagoyanni syndrome
Kaufman oculocerebrofacial syndrome
Kawasaki syndrome
KBG syndrome
Kearns Sayre syndrome
Kennerknecht Vogel syndrome
Kenny-Caffey syndrome type 1
Kenny-Caffey syndrome type 2
Keratitis hereditary
Keratoconus
Keratoconus posticus circumscriptus
Keratoderma palmoplantar deafness
Keratoderma palmoplantar spastic paralysis
Keratoderma palmoplantaris transgrediens
Keratolytic winter erythema
Keratomalacia
Keratosis focal palmoplantar gingival
Keratosis follicularis dwarfism and cerebral atrophy
Keratosis follicularis spinulosa decalvans
Keratosis palmoplantaris adenocarcinoma of the colon
Keratosis palmoplantaris papulosa
Keratosis palmoplantaris striata 1
Keratosis palmoplantaris striata 3
Keratosis seborrheic
Kerion celsi
Kernicterus
Keshan disease
Keutel syndrome
KID syndrome
Kidney cancer
Kidney cancer childhood
Kienbock's disease
Kifafa seizure disorder
Kikuchi disease
Kimura disease
Kindler syndrome
King Denborough syndrome
Kingella infections
Klatskin tumor
Klebsiella
Kleeblattschaedel syndrome
Kleefstra syndrome
Kleine Levin syndrome
Kleiner Holmes syndrome
Klinefelter syndrome
Klinefelter syndrome variants
Klippel Feil syndrome
Klippel Trenaunay syndrome
Klumpke paralysis
Kluver Bucy syndrome
Kniest dysplasia
Kniest like dysplasia lethal
Kniest-like dysplasia with pursed lips and ectopia lentis
Knobloch syndrome
Knuckle pads leuconychia and sensorineural deafness
Kocher-Debre-Semelaigne syndrome
Kohler disease
Kohlschutter Tonz syndrome
Konigsmark Knox Hussels syndrome
Koone Rizzo Elias syndrome
Kosztolanyi syndrome
Kotzot-Richter syndrome
Kousseff Nichols syndrome
Kowarski syndrome
Kozlowski Brown Hardwick syndrome
Kozlowski Celermajer Tink syndrome
Kozlowski Ouvrier syndrome
Kozlowski Rafinski Klicharska syndrome
Kozlowski Warren Fisher syndrome
Kozlowski-Krajewska syndrome
Krabbe disease atypical due to Saposin A deficiency
Krabbe leukodystrophy
Krasnow Qazi syndrome
Krauss Herman Holmes syndrome
Krieble Bixler syndrome
Krukenberg carcinoma
KSHV inflammatory cytokine syndrome
Kurczynski Casperson syndrome
Kuru
Kuskokwim disease
Kuster Majewski Hammerstein syndrome
Kuster syndrome
Kyasanur Forest disease
Kyphomelic dysplasia
Kyphosis brachyphalangy optic atrophy
Kyrle disease
L-2-hydroxyglutaric aciduria
Laband syndrome
Labrador lung
Lachiewicz Sibley syndrome
Lacrimo-auriculo-dento-digital syndrome
Lactate dehydrogenase deficiency
Lactate dehydrogenase deficiency type A
Lactate dehydrogenase deficiency type B
Lactate dehydrogenase deficiency type C
Lactic acidosis congenital infantile
Ladda Zonana Ramer syndrome
Lafora disease
Lagophthalmia cleft lip palate
Laing distal myopathy
Lambdoid synostosis
Lambert Eaton myasthenic syndrome
Lambert syndrome
Lamellar ichthyosis
Landau-Kleffner syndrome
Landy Donnai syndrome
Langer mesomelic dysplasia
Langer Nishino Yamaguchi syndrome
Langerhans cell histiocytosis
Langerhans cell sarcoma
Laparoschisis
Laplane Fontaine Lagardere syndrome
Large B cell diffuse lymphoma
Large granular lymphocyte leukemia
Laron syndrome
Larsen syndrome
Larsen syndrome dominant type
Larsen syndrome recessive type
Larsen-like syndrome
Laryngeal abductor paralysis mental retardation
Laryngeal cancer
Laryngeal cancer childhood
Laryngeal cleft
Laryngeal papillomatosis
Laryngocele
Laryngomalacia
Laryngoonychocutaneous syndrome
Larynx atresia
Larynx congenital partial atresia of
Lassueur-Graham-Little syndrome
Late acute graft versus host disease
Late-onset congenital adrenal hyperplasia
Lateral body wall defect
Lateral meningocele syndrome
Lateral semicircular canal malformation familial with external and middle ear abnormalities
Laterality defects dominant
Lathosterolosis
Lathyrism
Lattice corneal dystrophy type 1
Lattice corneal dystrophy type 3A
Laugier-Hunziker syndrome
Launois-Bensaude adenolipomatosis
Laurence Prosser Rocker syndrome
Laurin-Sandrow syndrome
LCAD deficiency
LCHAD deficiency
Le Marec Bracq Picaud syndrome
Leber congenital amaurosis
Leber congenital amaurosis type 1
Leber congenital amaurosis type 10
Leber congenital amaurosis type 11
Leber congenital amaurosis type 12
Leber congenital amaurosis type 2
Leber congenital amaurosis type 3
Leber congenital amaurosis type 4
Leber congenital amaurosis type 5
Leber congenital amaurosis type 6
Leber congenital amaurosis type 9
Leber hereditary optic neuropathy
Leber hereditary optic neuropathy with dystonia
Leber miliary aneurysm
Ledderhose disease
Left-sided gallbladder
Leg absence deformity cataract
Legg-Calve-Perthes disease
Legionellosis
Legius syndrome
Lehman syndrome
Leichtman Wood Rohn syndrome
Leigh syndrome
Leigh syndrome French Canadian type
Leiner disease
Leiomyoma of vulva and esophagus
Leiomyomatosis and renal cell cancer hereditary
Leiomyomatosis familial
Leiomyomatosis of esophagus cataract and hematuria
Leiomyomatosis esophageal and vulval with nephropathy
Leiomyosarcoma
Leishmaniasis
Leisti Hollister Rimoin syndrome
Lelis syndrome
Lemierre syndrome
Lenegre disease
Lentigo maligna melanoma
Lenz Majewski hyperostotic dwarfism
Lenz microphthalmia syndrome
LEOPARD syndrome
Leprechaunism
Leptospirosis
Leri pleonosteosis
Leri Weill dyschondrosteosis
Lesch Nyhan syndrome
Lethal chondrodysplasia Moerman type
Lethal chondrodysplasia Seller type
Lethal congenital contracture syndrome 1
Lethal congenital contracture syndrome 2
Lethal short limb skeletal dysplasia Al Gazali type
Leucine-sensitive hypoglycemia of infancy
Leucocyte adhesion defect
Leukemia subleukemic
Leukemia B-cell chronic
Leukemia Myeloid
Leukemia T-cell chronic
Leukocyte adhesion deficiency type 1
Leukodystrophy
Leukodystrophy reunion type
Leukodystrophy with oligodontia
Leukodystrophy dysmyelinating and spastic paraparesis with or without dystonia
Leukodystrophy hypomyelinating 3
Leukodystrophy psuedometachromatic
Leukoencephalopathy palmoplantar keratoderma
Leukoencephalopathy with vanishing white matter
Leukoencephalopathy arthritis colitis and hypogammaglobulinema
Leukoencephalopathy cerebral calcifications and cysts
Leukomalacia
Leukomelanoderma mental redardation hypotrichosis
Leukonychia totalis
Leukoplakia
Levator syndrome
Levic Stefanovic Nikolic syndrome
Levotransposition of the great arteries
Levy-Yeboa syndrome
Lewy body dementia
Leydig cells hypoplasia
Lhermitte-Duclos disease
Li Fraumeni syndrome
Lichen planus follicularis
Lichen planus pigmentosus
Lichen sclerosis
Lichtenstein syndrome
Light chain deposition disease
Limb deficiencies distal with micrognathia
Limb dystonia
Limb reduction defect
Limb scalp and skull defects
Limb transversal defect cardiac anomaly
Limb-body wall complex
Limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy autosomal dominant
Limb-girdle muscular dystrophy type 2H
Limb-girdle muscular dystrophy with delta-sarcoglyan deficiency
Limb-girdle muscular dystrophy type 1A
Limb-girdle muscular dystrophy type 1B
Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2B
Limb-girdle muscular dystrophy type 2C
Limb-girdle muscular dystrophy type 2D
Limb-girdle muscular dystrophy type 2E
Limb-girdle muscular dystrophy type 2F
Limb-girdle muscular dystrophy type 2G
Limb-girdle muscular dystrophy type 21
Limb-mammary syndrome
Limbic encephalitis
Lindsay Burn syndrome
Linear hamartoma syndrome
Linear nevus sebaceous syndrome
Linear porokeratosis
Linear scleroderma (subtype)
Lip and oral cavity cancer
Lipase deficiency combined
Lipedema
Lipid storage myopathy
Lipidosis with triglycerid storage disease
Lipoamide dehydrogenase deficiency
Lipoatrophy with diabetes hepatic steatosis cardiomyopathy and leukomelanodermic papules
Lipodermatosclerosis
Lipodystrophy
Lipodystrophy familial partial type 2
Lipogranulomatosis
Lipoid proteinosis of Urbach and Wiethe
Lipomatosis familial benign cervical
Lipomyelomeningocele
Liposarcoma
Lissencephaly 1
Lissencephaly 2
Lissencephaly syndrome type 1
Lissencephaly X-linked
Lissencephaly isolated
Listeria infection
Littoral cell angioma of the spleen
Liver cancer
Liver failure acute infantile
Localized epiphyseal dysplasia
Localized scleroderma
Locked-in syndrome
Lockwood Feingold syndrome
Loeys-Dietz syndrome
Loeys-Dietz syndrome type 1A
Loeys-Dietz syndrome type 1B
Loeys-Dietz syndrome type 2A
Loeys-Dietz syndrome type 2B
Logopenic progressive aphasia
Loiasis
Loin pain hematuria syndrome
Long QT syndrome 1
Long QT syndrome 10
Long QT syndrome 11
Long QT syndrome 2
Long QT syndrome 3
Long QT syndrome 4
Long QT syndrome 5
Long QT syndrome 6
Long QT syndrome 8
Long QT syndrome 9
Loose anagen hair syndrome
Lopes Gorlin syndrome
Lowe oculocerebrorenal syndrome
Lower mesodermal defects sequence
Lowry Maclean syndrome
Lowry Wood syndrome
Lubani Al Saleh Teebi syndrome
Lubinsky syndrome
Lubs X-linked mental retardation syndrome
Lucey-Driscoll syndrome
Lujan Fryns syndrome
Lumbar malsegmentation short stature
Lung agenesis
Lupus nephritis
Lutz Richner Landolt syndrome
Lymph node neoplasm
Lymphangiectasis
Lymphangioleiomyomatosis
Lymphangioma
Lymphatic filariasis
Lymphatic neoplasm
Lymphedema and cerebral arteriovenous anomaly
Lymphedema microcephaly and chorioretinopathy syndrome
Lymphedema congenital
Lymphedema-distichiasis syndrome
Lymphoblastic lymphoma
Lymphocytes absent
Lymphocytic colitis
Lymphocytic hypophysitis
Lymphocytic infiltrate of Jessner
Lymphocytic vasculitis
Lymphogranuloma venereum
Lymphoma AIDS related
Lymphoma gastric non Hodgkins type
Lymphoma large-cell
Lymphoma large-cell immunoblastic
Lymphoma small cleaved-cell diffuse
Lymphoma small cleaved-cell follicular
Lymphomatoid granulomatosis
Lymphomatoid papulosis
Lymphomatous thyroiditis
Lymphoproliferative syndrome X-linked 1
Lymphosarcoma
Lynch Lee Murday syndrome
Lynch syndrome
Lysosomal Acid Lipase Deficiency
Lysinuric protein intolerance
Lysteria monocytoigeneses meningitis

Rare Diseases M - N

Mac Dermot Winter syndrome
Macrocephaly mesodermal hamartoma spectrum
Macrocephaly benign familial
Macrocephaly mental retardation short stature spastic paraplegia and CNS malformations
Macrocephaly-capillary malformation
Macrodactyly of the foot
Macrodactyly of the hand
Macroepiphyseal dysplasia with osteoporosis wrinkled skin and aged appearance
Macroglossia
Macrogyria pseudobulbar palsy and mental retardation
Macrophagic myofasciitis
Macrosomia with lethal microphthalmia
Macrothrombocytopenia progressive deafness
Macular dystrophy atypical vitelliform
Macular dystrophy concentric annular
Macular dystrophy corneal type 1
Macules hereditary congenital hypopigmented and hyperpigmented
Madelung disease
Madokoro Ohdo Sonoda syndrome
Maffucci syndrome
Mahvash disease
Majeed syndrome
Mal de debarquement
Malakoplakia
Malaria
Male pseudohermaphroditism due to defective LH molecule
Male pseudohermaphroditism/mental retardation syndrome Verloes type
Malignant cylindroma
Malignant eccrine spiradenoma
Malignant fibrous histiocytoma
Malignant germ cell tumor
Malignant hyperthermia
Malignant hyperthermia arthrogryposis torticollis
Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 2
Malignant hyperthermia susceptibility type 3
Malignant hyperthermia susceptibility type 4
Malignant hyperthermia susceptibility type 5
Malignant hyperthermia susceptibility type 6
Malignant melanoma childhood
Malignant mesenchymal tumor
Malignant mesothelioma
Malignant mixed Mullerian tumor
Malignant paroxysmal ventricular tachycardia
Malignant Teratocarcinosarcoma
Mallory-Weiss syndrome
Malonyl-CoA decarboxylase deficiency
Malouf syndrome
Malpuech facial clefting syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Mandibulofacial dysostosis Treacher Collins type autosomal recessive
Mannosidosis beta A lysosomal
Manouvrier syndrome
Mansonelliasis
Mantle cell lymphoma
Manz syndrome
Maple syrup urine disease
Maple syrup urine disease type 1A
Maple syrup urine disease type 1B
Maple syrup urine disease type 2
Marburg hemorrhagic fever
Marchiafava Bignami disease
Marcus Gunn phenomenon
Marden Walker like syndrome
Marden-Walker syndrome
Marek disease
Marfan syndrome
Marfan Syndrome type 2
Marfan Syndrome type 3
Marfan Syndrome type 4
Marfan Syndrome type 5
Marfanoid hypermobility syndrome
Marfanoid mental retardation syndrome autosomal
Marginal glioneuronal heterotopia
Marie type ataxia
Marie Unna congenital hypotrichosis
Marinesco-Sjogren syndrome
Marinesco-Sjogren-like syndrome (MSLS)
Markel Vikkula Mulliken syndrome
Marles Greenberg Persaud syndrome
Maroteaux Fonfria syndrome
Maroteaux Stanescu Cousin syndrome
Maroteaux Verloes Stanescu syndrome
Marphanoid syndrome type De Silva
Marsden Nyhan Sakati syndrome
Marshall syndrome
Marshall-Smith syndrome
Martinez Monasterio Pinheiro syndrome
Martsolf syndrome
MASS syndrome
Massa Casaer Ceulemans syndrome
Mastocytic enterocolitis
Mastocytosis
Mastocytosis cutaneous with short stature conductive hearing loss and microtia
Mastroiacovo De Rosa Satta syndrome
Mastroiacovo Gambi Segni syndrome
Maternal hyperphenylalaninemia
Maternally inherited Leigh syndrome
Mathieu De Broca Bony syndrome
Matsoukas Liarikos Giannika syndrome
Maturity-onset diabetes of the young
Maturity-onset diabetes of the young type 1
Maturity-onset diabetes of the young type 2
Maturity-onset diabetes of the young type 3
Maturity-onset diabetes of the young type 4
Maturity-onset diabetes of the young type 5
Maturity-onset diabetes of the young type 6
Maturity-onset diabetes of the young type 7
Maturity-onset diabetes of the young type 8
Maturity-onset diabetes of the young type 9
Maumenee syndrome
Maxillary double lip
Maxillofacial dysostosis
Maxillonasal dysplasia Binder type
Mayer-Rokitansky-Kuster-Hauser syndrome
McAlister Crane syndrome
McCallum Macadam Johnston syndrome
McCune Albright syndrome
McDonough syndrome
McDowall syndrome
McGillivray syndrome
McKusick Kaufman syndrome
McLeod neuroacanthocytosis syndrome
McPherson Clemens syndrome
McPherson Robertson Cammarano syndrome
Meacham Winn Culler syndrome
Meadows syndrome
Measles
Meckel syndrome type 2
Meckel syndrome type 3
Meckel syndrome type 1
Meconium aspiration syndrome
Medeira Dennis Donnai syndrome
Medial Medullary Syndrome
Median cleft of upper lip with polyps of facial skin and nasal mucosa
Median nodule of the upper lip
Mediastinal endodermal sinus tumors
Medium-chain 3-ketoacyl-coa thiolase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medrano Roldan syndrome
Medullary cystic kidney disease
Medullary cystic kidney disease 1
Medullary cystic kidney disease 2
Medullary sponge kidney
Medulloblastoma
Medulloblastoma childhood
Meesmann corneal dystrophy
Megacystis microcolon intestinal hypoperistalsis syndrome
Megaduodenum and/or megacystis
Megaepiphyseal dwarfism
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephaly polymicrogyria and hydrocephalus (MPPH) syndrome
Megalocornea mental retardation syndrome
Megalocytic interstitial nephritis
Megarbane Jalkh syndrome
Megarbane syndrome
Mehes syndrome
Mehta Lewis Patton syndrome
Meier Blumberg Imahorn syndrome
Meier-Gorlin syndrome
Meige syndrome
Meigel disease
Meinecke syndrome
Melanocytic lesions of CNS
Melanoma astrocytoma syndrome
Melanoma familial
Meleda disease
Melhem Fahl syndrome
Meliodosis
Melkersson-Rosenthal syndrome
Melnick-Needles syndrome
Melorheostosis
Membranoproliferative glomerulonephritis type 2
Membranous nephropathy
Menetrier disease
Mengel Konigsmark syndrome
Meningioma
Meningioma spinal
Meningocele
Meningococcal infection
Meningococcemia
Meningoencephalocele
Menkes disease
Mental deficiency-epilepsy-endocrine disorders
Mental retardation anophthalmia craniosynostosis
Mental retardation arachnodactyly hypotonia telangiectasia
Mental retardation athetosis microphthalmia
Mental retardation blepharophimosis obesity web neck
Mental retardation cataracts calcified pinnae myopathy
Mental retardation coloboma slimness
Mental retardation dysmorphism hypogonadism diabetes
Mental retardation epilepsy
Mental retardation epilepsy bulbous nose
Mental retardation gynecomastia obesity X-linked
Mental retardation hip luxation G6PD variant
Mental retardation hypocupremia hypobetalipoproteinemia
Mental retardation hypotonia skin hyperpigmentation
Mental retardation macrocephaly coarse facies hypotonia
Mental retardation microcephaly phalangeal facial
Mental retardation microcephaly unusual facies
Mental retardation Mietens Weber type
Mental retardation progressive spasticity
Mental retardation psychosis macroorchidism
Mental retardation short stature Bombay phenotype
Mental retardation short stature cleft palate unusual facies
Mental retardation short stature deafness genital
Mental retardation short stature hand contractures genital anomalies
Mental retardation short stature heart and skeletal anomalies
Mental retardation short stature hypertelorism
Mental retardation short stature microcephaly eye
Mental retardation short stature ocular and articular anomalies
Mental retardation short stature scoliosis
Mental retardation short stature unusual facies
Mental retardation skeletal dysplasia abducens palsy
Mental retardation Smith Fineman Myers type
Mental retardation spasticity ectrodactyly
Mental retardation syndrome Belgian type
Mental retardation unusual facies
Mental retardation unusual facies talipes hand anomalies
Mental retardation Wolff type
Mental retardation X-linked borderline Maoa metabolism anomaly
Mental retardation X-linked Brunner type
Mental retardation X-linked dysmorphism
Mental retardation X-linked dystonia dysarthria
Mental retardation X-linked short stature obesity
Mental retardation X-linked syndromic 11
Mental retardation X-linked syndromic 7
Mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance
Mental retardation X-linked South African type
Mental retardation epileptic seizures hypogonadism and hypogenitalism microcephaly and obesity
Mental retardation keratoconus febrile seizures and sinoatrial block
Mental retardation macrocephaly short stature and craniofacial dysmorphism
Mental retardation X-linked 14
Mental retardation X-linked nonspecific
Mental retardation-hypotonic facies syndrome X-linked 1
Mental retardation-polydactyly-uncombable hair
Meralgia paresthetica
Mercury poisoning
Meretoja syndrome
Merkel cell carcinoma
Merlob Grunebaum Reisner syndrome
Merlob syndrome
Mesangial proliferative glomerulonephritis
Mesangial sclerosis diffuse
Mesenteric artery ischemia
Mesomelia
Mesomelia-synostoses syndrome
Mesomelic dwarfism cleft palate camptodactyly
Mesomelic dwarfism of hypoplastic tibia and radius type
Mesomelic dysplasia Kantaputra type
Mesomelic dysplasia Savarirayan type
Mesomelic dysplasia skin dimples
Mesomelic syndrome Pfeiffer type
Metacarpals 4 and 5 fusion
Metachondromatosis
Metachromatic leukodystrophy MLD
Metachromatic leukodystrophy due to saposin B deficiency
Metagonimiasis
Metaphyseal acroscyphodysplasia
Metaphyseal anadysplasia
Metaphyseal chondrodysplasia Schmid type
Metaphyseal chondrodysplasia Spahr type
Metaphyseal chondrodysplasia with cone-shaped epiphyses normal hair and normal hands
Metaphyseal chondrodysplasia others
Metaphyseal dysostosis mental retardation conductive deafness
Metaphyseal dysplasia maxillary hypoplasia brachydactyly
Metaphyseal dysplasia without hypotrichosis
Metaphyseal undermodeling spondylar dysplasia and overgrowth
Metaplastic carcinoma of the breast
Metastatic insulinoma
Metastatic squamous neck cancer with occult primary
Metatropic dwarfism
Methimazole antenatal infection
Methionine adenosyltransferase deficiency
Methyl mercury antenatal infection
Methylcobalamin deficiency cbl G type
Methylcobalamin deficiency cbl E complementation type
Methylmalonic acidemia
Methylmalonic acidemia with homocystinuria
Methylmalonic aciduria cblA type
Methylmalonic aciduria cblB type
Methylmalonic aciduria microcephaly cataract
Methylmalonicacidemia with homocystinuria cbl d
Methylmalonicaciduria with homocystinuria cbl f
Methylmalonyl-Coenzyme A mutase deficiency
Mevalonic aciduria
MHC class 1 deficiency
Michelin tire baby syndrome
Michels Caskey syndrome
Michels syndrome
Mickleson syndrome
Micrencephaly corpus callosum agenesis
Microbrachycephaly ptosis cleft lip
Microcephalic osteodysplastic primordial dwarfism type 1
Microcephalic osteodysplastic primordial dwarfism type 2
Microcephalic osteodysplastic primordial dwarfism type 3
Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities
Microcephalic primordial dwarfism Toriello type
Microcephaly
Microcephaly albinism digital anomalies syndrome
Microcephaly autosomal dominant
Microcephaly brachydactyly kyphoscoliosis
Microcephaly brain defect spasticity hypernatremia
Microcephaly cardiac defect lung malsegmentation
Microcephaly cardiomyopathy
Microcephaly cervical spine fusion anomalies
Microcephaly chorioretinopathy recessive form
Microcephaly deafness syndrome
Microcephaly developmental delay pancytopenia
Microcephaly glomerulonephritis Marfanoid habitus
Microcephaly hypergonadotropic hypogonadism short stature
Microcephaly immunodeficiency lymphoreticuloma
Microcephaly mental retardation retinopathy
Microcephaly mental retardation spasticity epilepsy
Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome
Microcephaly microcornea syndrome Seemanova type
Microcephaly micropenis convulsions
Microcephaly microphthalmos blindness
Microcephaly nonsyndromal
Microcephaly pontocerebellar hypoplasia dyskinesia
Microcephaly seizures mental retardation heart disorders
Microcephaly sparse hair mental retardation seizures
Microcephaly with chorioretinopathy autosomal dominant form
Microcephaly with normal intelligence immunodeficiency
Microcephaly with spastic quadriplegia
Microcephaly corpus callosum dysgenesis and cleft lip-palate
Microcephaly hiatal hernia and nephrotic syndrome
Microcephaly holoprosencephaly and intrauterine growth retardation
Microcephaly primary autosomal recessive
Microcoria congenital
Microcornea corectopia macular hypoplasia
Microcornea glaucoma and absent frontal sinuses
Microcystic adnexal carcinoma
Microdeletion 15q11.2
Microdontia hypodontia short stature
Microencephaly
Microgastria limb reduction defect
Microhydranencephaly
Micromelic bone dysplasia with cloverleaf skull
Microphthalmia associated with colobomatous cyst
Microphthalmia camptodactyly mental retardation
Microphthalmia cataract
Microphthalmia diaphragmatic hernia Fallot
Microphthalmia mental deficiency
Microphthalmia microtia fetal akinesia
Microphthalmia syndromic 10
Microphthalmia syndromic 3
Microphthalmia syndromic 4
Microphthalmia syndromic 5
Microphthalmia syndromic 6
Microphthalmia syndromic 7
Microphthalmia syndromic 8
Microphthalmia syndromic 9
Microphthalmia isolated with corectopia
Microscopic polyangiitis
Microsomia hemifacial radial defects
Microspherophakia with hernia
Microsporidiosis
Microtia eye coloboma and imperforation of the nasolacrimal duct
Microtia meatal atresia and conductive deafness
Microtia-Anotia
Microvillus inclusion disease
Midline cleft of lower lip
Midline developmental field defects
Midline field defects
Midline lethal granuloma
Midphalangeal hair
Mikulicz disease
Miles-Carpenter x-linked mental retardation syndrome
Miller Fisher syndrome
Miller-Dieker syndrome
Milner Khallouf Gibson syndrome
Milroy disease
Minicore myopathy with external ophthalmoplegia
Minicore myopathy antenatal onset with arthrogryposis
Minimal change disease
Mirizzi syndrome
Mirror polydactyly segmentation and limbs defects
Mitochondrial complex I deficiency
Mitochondrial complex II deficiency
Mitochondrial complex III deficiency
Mitochondrial complex IV deficiency
Mitochondrial complex V deficiency
Mitochondrial disease with severe hypotonia lactic acidaemia and hyperammonemia
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
Mitochondrial genetic disorders
Mitochondrial myopathy with diabetes
Mitochondrial myopathy with lactic acidosis
Mitochondrial neurogastrointestinal encephalopathy syndrome
Mitochondrial trifunctional protein deficiency
Mitral atresia
Mitral regurgitation deafness skeletal anomalies
Mitral valve prolapse familial autosomal dominant
Mitral valve prolapse familial X-linked
Miura syndrome
Mixed connective tissue disease
Mixed sclerosing bone dystrophy
Miyoshi myopathy
Moebius axonal neuropathy hypogonadism
Moebius syndrome
Mohr-Tranebjaerg syndrome
Moloney syndrome
Molybdenum cofactor deficiency
MOMO syndrome
Mondini Dysplasia
Mondor's disease
Monilethrix
Monkeypox
Monoamine oxidase A deficiency
Monoclonal gammopathy of undetermined significance
Monodactyly tetramelic
Monomelic amyotrophy
Mononeuritis multiplex
Montefiore syndrome
Morel's ear
Morgagni-Stewart-Morel syndrome
Morgellons
Morillo-Cucci Passarge syndrome
MORM syndrome
Morphea
Morquio syndrome A
Morquio syndrome B
Morquio syndrome C
Morse Rawnsley Sargent syndrome
Morvan's fibrillary chorea
Mosaic trisomy 8
Mosaic trisomy 9
Mosaic variegated aneuploidy syndrome
Motor neuro-ophthalmic disorders
Motor neuropathy peripheral with dysautonomia
Motor sensory neuropathy type 1 aplasia cutis congenita
Mounier-Kuhn syndrome
Mousa Al din Al Nassar syndrome
Mowat-Wilson syndrome
Moyamoya disease
MSBD syndrome
Muckle-Wells syndrome
Mucoepidermoid carcinoma
Mucolipidosis type 3A
Mucolipidosis type 4
Mucopolysaccharidosis
Mucopolysaccharidosis type I
Mucopolysaccharidosis type II
Mucopolysaccharidosis type III
Mucopolysaccharidosis type IIIA
Mucopolysaccharidosis type IIIB
Mucopolysaccharidosis type IIIC
Mucopolysaccharidosis type IIID
Mucopolysaccharidosis type VI
Mucopolysaccharidosis type VII
Muenke Syndrome
Muir-Torre syndrome
Mulibrey Nanism
Muller Barth Menger syndrome
Mullerian agenesis
Mullerian aplasia
Mullerian derivatives persistent
Mullerian duct abnormalities galactosemia
Mulliez Roux Loterman syndrome
Multicentric Castleman’s Disease
Multicentric osteolysis nephropathy
Multicentric reticulohistiocytosis
Multicore disease
Multicystic renal dysplasia bilateral
Multifocal choroiditis
Multifocal fibrosclerosis
Multifocal heterotopia
Multifocal lymphangioendotheliomatosis with thrombocytopenia
Multifocal motor neuropathy with conduction block
Multifocal ventricular premature beats
Multinodular goiter cystic kidney polydactyly
Multiple carboxylase deficiency biotin responsive
Multiple carboxylase deficiency late onset
Multiple carboxylase deficiency propionic acidemia
Multiple congenital anomalies mental retardation growth failure and cleft lip palate
Multiple congenital contractures
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia 1
Multiple epiphyseal dysplasia 2
Multiple epiphyseal dysplasia 3
Multiple epiphyseal dysplasia 4
Multiple epiphyseal dysplasia 5
Multiple fibrofolliculoma familial
Multiple joint dislocations metaphyseal dysplasia
Multiple myeloma
Multiple pterygium syndrome Aslan type
Multiple pterygium syndrome Escobar type
Multiple pterygium syndrome lethal type
Multiple pterygium syndrome X-linked
Multiple respiratory chain enzyme deficiencies
Multiple self healing squamous epithelioma
Multiple sulfatase deficiency
Multiple synostoses syndrome 1
Multiple synostoses syndrome 2
Multiple system atrophy
Multiple system atrophy (MSA) with orthostatic hypotension
Multiple vertebral anomalies unusual facies
Munchausen by proxy syndrome
Mungan syndrome
MURCS association
Muscle eye brain disease
Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus
Muscular dystrophy
Muscular Dystrophy - Late Onset
Muscular dystrophy congenital merosin negative
Muscular dystrophy limb girdle type 2A Erb type
Muscular dystrophy white matter spongiosis
Muscular dystrophy congenital infantile with cataract and hypogonadism
Muscular dystrophy congenital megaconial type
Muscular dystrophy congenital merosin-positive
Muscular fibrosis multifocal obstructed vessels
Muscular phosphorylase kinase deficiency
Mutagen sensitivity
Mutiple parosteal osteochondromatous proliferations
Myalgia eosinophilia associated with tryptophan
Myasthenia gravis
Myasthenia gravis congenital
Myasthenia familial
Myasthenia familial limb-girdle
Myasthenic syndrome congenital associated with acetylcholine receptor deficiency
Myasthenic syndrome congenital slow-channel
Mycetoma
Mycobacterium Abscessus
Mycobacterium Avium Complex
Mycobacterium Chelonae
Mycobacterium fortuitum
Mycobacterium Gordonae
Mycobacterium Kansasii
Mycobacterium Malmoense
Mycobacterium Marinum
Mycobacterium tuberculosis susceptibility to infection by
Mycobacterium Xenopi
Mycoplasmal pneumonia
Mycosis fungoides
Myelitis
Myelocerebellar disorder
Myelocytic leukemia-like syndrome familial chronic
Myelodysplastic syndromes
Myelodysplastic/myeloproliferative disease
Myelofibrosis
Myeloid sarcoma
Myeloid splenomegaly
Myelomeningocele
Myeloperoxidase deficiency
MYH-associated polyposis
MYH9 related thrombocytopenia
Myhre Ruvalcaba Graham syndrome
Myhre Ruvalcaba Kelley syndrome
Myhre School syndrome
Myocarditis
Myoclonus ataxia
Myoclonus cerebellar ataxia deafness
Myoclonus epilepsy
Myoclonus epilepsy partial seizure
Myoclonus hereditary progressive distal muscular atrophy
Myoclonus with epilepsy with ragged red fibers
Myoepithelial carcinoma
Myofibrillar lysis
Myofibrillar myopathy
Myoglobinuria dominant form
Myoglobinuria recurrent
Myokymia with neonatal epilepsy
Myopathic carnitine deficiency
Myopathy cataract hypogonadism
Myopathy congenital
Myopathy congenital multicore with external ophthalmoplegia
Myopathy growth and mental retardation hypospadias
Myopathy mitochondrial cataract
Myopathy ophthalmoplegia hypoacousia areflexia
Myopathy with lysis of myofibrils
Myopathy limb-girdle with bone fragility
Myopathy mitochondrial progressive with congenital cataract hearing loss and developmental delay
Myopathy tubular aggregate
Myopathy X-linked with excessive autophagy
Myopia 6
Myostatin-related muscle hypertrophy
Myotonia atrophica
Myotonia congenita autosomal dominant
Myotonia congenita autosomal recessive
Myotonia mental retardation skeletal anomalies
Myotonic dystrophy
Myotonic dystrophy type 1
Myotonic dystrophy type 2
Myotubular myopathy
Myxoid liposarcoma
Myxoma-spotty pigmentation-endocrine overactivity
Myxomatous peritonitis
Myxopapillary ependymoma
Myxozoa
N acetyltransferase deficiency
N syndrome
N-acetyl glucosamine 6-sulfate sulfatase deficiency
N-acetyl-alpha-D-galactosaminidase deficiency type III
N-acetylglutamate synthetase deficiency
Nablus mask-like facial syndrome
NADH cytochrome B5 reductase deficiency
Naegeli syndrome
Nager acrofacial dysostosis
Naguib-Richieri-Costa syndrome
Nail dysplasia isolated congenital
Nail patella syndrome
Nakajo syndrome
Nakamura Osame syndrome
Nance-Horan syndrome
Narcolepsy
Narrow oral fissure short stature cone shaped epiphyses
Nasal cavity cancer childhood
Nasal polyposis familial
Nasodigitoacoustic syndrome
Nasopalpebral lipoma coloboma syndrome
Nasopharyngeal cancer childhood
Nasopharyngeal carcinoma
Natal teeth intestinal pseudoobstruction and patent ductus
Nathalie syndrome
Native American myopathy
Navajo neurohepatopathy
Navajo poikiloderma
Naxos disease
Necrotizing enterocolitis
Necrotizing fasciitis
Negative rheumatoid factor polyarthritis
Neisseria meningitidis
Nelson syndrome
Nemaline myopathy 1
Nemaline myopathy 2
Nemaline myopathy 3
Nemaline myopathy 4
Nemaline myopathy 5
Nemaline myopathy 6
NEMO mutation with immunodeficiency
Neonatal adrenoleukodystrophy
Neonatal hemochromatosis
Neonatal herpes
Neonatal hypothyroidism
Neonatal intrahepatic cholestasis caused by citrin deficiency
Neonatal meningitis
Neonatal onset multisystem inflammatory disease (NOMID)
Neonatal ovarian cyst
Neonatal progeroid syndrome
Neonatal stroke
Neonatal systemic lupus erythematosus
Nephrocalcinosis
Nephrogenic diabetes insipidus
Nephrogenic Systemic Fibrosis
Nephronophthisis 1
Nephronophthisis familial adult spastic quadriparesis
Nephropathic cystinosis
Nephropathy deafness hyperparathyroidism
Nephropathy familial with hyperuricemia
Nephrosclerosis
Nephrosis deafness urinary tract digital malformation
Nephrotic syndrome ocular anomalies
Nephrotic syndrome idiopathic steroid-resistant
Nerve sheath neoplasm
Netherton syndrome
Neu Laxova syndrome
Neuhauser Daly Magnelli syndrome
Neuhauser Eichner Opitz syndrome
Neural crest tumor
Neuroaxonal dystrophy renal tubular acidosis
Neuroaxonal dystrophy infantile
Neuroblastoma
Neurocutaneous melanosis
Neuroectodermal endocrine syndrome
Neuroendocrine carcinoma of the cervix
Neuroepithelioma
Neurofaciodigitorenal syndrome
Neuroferritinopathy
Neurofibroma
Neurofibromatosis
Neurofibromatosis type 1
Neurofibromatosis type 2
Neurofibromatosis type 3A
Neurofibromatosis type 3B
Neurofibromatosis type 4
Neurofibromatosis type 5
Neurofibromatosis type 6
Neurofibromatosis-Noonan syndrome
Neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome
Neurofibrosarcoma
Neurogenic diabetes insipidus
Neurogenic hypertension
Neuroleptic malignant syndrome
Neuroma biliary tract
Neuromyelitis optica spectrum disorder
Neuronal ceroid lipofuscinoses
Neuronal interstitial dysplasia
Neuronal intranuclear inclusion disease
Neuropathy ataxia retinitis pigmentosa syndrome
Neuropathy hereditary sensory and autonomic type 1
Neuropathy motor sensory type 2 deafness mental retardation
Neuropathy sensory spastic paraplegia
Neuropathy congenital with arthrogryposis multiplex
Neuropathy distal hereditary motor Jerash type
Neuropathy hereditary motor and sensory LOM type
Neuropathy hereditary motor and sensory Okinawa type
Neuropathy hereditary motor and sensory Russe type
Neurosyphilis
Neurotoxicity syndromes
Neutral lipid storage disease with myopathy
Neutropenia lethal congenital with eosinophilia
Neutropenia monocytopenia deafness
Neutrophil-specific granule deficiency
Neutrophilic dermatosis acute febrile
Nevi flammei familial multiple
Nevo syndrome
Nevoid basal cell carcinoma syndrome
New daily-persistent headache
Nguyen syndrome
Nicolaides Baraitser syndrome
Niemann-Pick disease
Niemann-Pick disease type B
Niemann-Pick disease type C1
Niemann-Pick disease type C2
Niemann-Pick disease type D
Nievergelt syndrome
Night blindness skeletal anomalies unusual facies
Night blindness congenital stationary
Nijmegen breakage syndrome
Nipah virus encephalitis
Noble Bass Sherman syndrome
Nocardiosis
Nodular melanoma
Nodular nonsuppurative panniculitis
Noma
Non functioning pancreatic endocrine tumor
Non-alcoholic steatohepatitis (NASH)
Non-dystrophic myotonic disorders
Non-Hodgkin lymphoma childhood
Non-Hodgkin lymphoma during pregnancy
Non-lissencephalic cortical dysplasia
Non-small cell lung cancer
Non-small cell lung cancer childhood
Nonaka myopathy
Nondystrophic myotonia
Nonmedullary thyroid carcinoma with or without cell oxyphilia
Nonseminomatous germ cell tumor
Nonsyndromic hereditary sensorineural hearing loss
Noonan syndrome PTPN11
Noonan syndrome KRAS
Noonan syndrome SOS1
Noonan syndrome RAF1
Noonan syndrome BRAF
Noonan syndrome MAP2K1
Noonan syndrome clinical
Noonan syndrome with mulitple letigines (formerly known as Leopard syndrome)
Noonan-like syndrome with loose anagen hair
Noonan-like/multiple giant cell lesion syndrome
Normokalemic periodic paralysis
Norrie disease
North Carolina macular dystrophy
Norum disease
Notalgia paresthetica
Nova syndrome
Novak syndrome
Nuchal bleb familial
Nystagmus 1 congenital X- linked
Nystagmus 2 congenital autosomal dominant
Nystagmus 3 congenital autosomal dominant
Nystagmus 4 congenital autosomal dominant
Nystagmus congenital motor autosomal recessive
Nystagmus hereditary vertical
Nystagmus myoclonic

Rare Diseases O - P

O Donnell Pappas syndrome
Occipital horn syndrome
Occult spinal dysraphism
Ochoa syndrome
Ochronosis
Ocular albinism type 1
Ocular cicatricial pemphigoid
Ocular coloboma-imperforate anus
Ocular colobomas ichthyosis brain malformations and endocrine abnormalities
Ocular melanoma
Ocular motility disorders
Ocular Muscular Dystrophy
Ocular toxoplasmosis
Oculo cerebral dysplasia
Oculo cerebro acral syndrome
Oculo cerebro osseous syndrome
Oculo digital syndrome
Oculo skeletal renal syndrome
Oculo tricho anal syndrome
Oculo-gastrointestinal muscular dystrophy
Oculoauriculofrontonasal syndrome
Oculocerebral hypopigmentation syndrome type Preus
Oculocerebral syndrome with hypopigmentation
Oculocerebrocutaneous syndrome
Oculocerebrorenal syndrome
Oculocutaneous albinism type 1
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 2
Oculocutaneous albinism type 3
Oculodentodigital dysplasia
Oculodentodigital dysplasia dominant
Oculodentoosseous dysplasia dominant
Oculodentoosseous dysplasia recessive
Oculodigitoesophagoduodenal syndrome
Oculoectodermal syndrome
Oculofaciocardiodental syndrome
Oculomaxillofacial dysostosis
Oculomelic amyoplasia
Oculomotor apraxia Cogan type
Oculootofacial dysplasia
Oculopharyngeal muscular dystrophy
Oculorenocerebellar syndrome
Odonto onycho dysplasia with alopecia
Odontogenic myxoma
Odontoma
Odontoma dysphagia syndrome
Odontomicronychial dysplasia
Odontoonychodermal dysplasia
Ogilvie syndrome
Oguchi disease
Ohtahara syndrome
Okamuto Satomura syndrome
Oligoastrocytoma
Oligodactyly tetramelic postaxial
Oligodendroglioma
Oligomeganephronic renal hypoplasia
Oligomeganephrony
Oligosyndactyly
Oliver McFarlane syndrome
Oliver syndrome
Olivopontocerebellar atrophy
Olivopontocerebellar atrophy deafness
Ollier disease
Olmsted syndrome
Omenn syndrome
Omodysplasia 1
Omodysplasia 2
Omphalocele cleft palate syndrome lethal
Omphalocele exstrophy imperforate anus
Omphalomesenteric cyst
Omsk hemorrhagic fever
Onchocerciasis
Oncocytoma renal
Oncogenic osteomalacia
Onychotrichodysplasia and neutropenia
Ophthalmoplegic Muscular dystrophy
Opisthorchiasis
Opitz G/BBB syndrome
Opitz Reynolds Fitzgerald syndrome
Opsismodysplasia
Opthalmic icthyosis
Opthalmo acromelic syndrome
Opthalmomandibulomelic dysplasia
Opthalmoplegia mental retardation lingua scrotalis
Opthalmoplegia myalgia tubular aggregates
Opthalmoplegia progressive external scoliosis
Optic atrophy 1
Optic atrophy 1 and deafness
Optic atrophy 2
Optic atrophy 5
Optic atrophy 6
Optic atrophy and cataract autosomal dominant
Optic atrophy opthalmoplegia ptosis deafness myopia
Optic atrophy polyneuropathy deafness
Optic atrophy hearing loss and peripheral neuropathy autosomal dominant
Optic nerve hypoplasia familial bilateral
Optic neuritis
Optic neuropathy anterior ischemic
Optic pathway glioma
Opticoacoustic nerve atrophy dementia
Oral cancer
Oral leukoplakia
Oral lichen planus
Oral pharyngeal disorders
Oral squamous cell carcinoma
Oral submucous fibrosis
Oral-facial cleft
Orbital lymphangioma
Orbital lymphoma
Orbital melanoma
Organic acidemia
Organic mood syndrome
Ornithine aminotransferase deficiency
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency syndrome
Ornithinemia
Oro acral syndrome
Orofaciodigital syndrome 1
Orofaciodigital syndrome 10
Orofaciodigital syndrome 11
Orofaciodigital syndrome 12
Orofaciodigital syndrome 13
Orofaciodigital syndrome 2
Orofaciodigital syndrome 3
Orofaciodigital syndrome 4
Orofaciodigital syndrome 5
Orofaciodigital syndrome 6
Orofaciodigital syndrome 8
Orofaciodigital syndrome 9
Orofaciodigital syndromes
Oropharyngeal cancer adult
Oropharyngeal cancer childhood
Orotic aciduria type 1
Orotidylic decarboxylase deficiency
Orstavik Lindemann Solberg syndrome
Orthostatic intolerance
Oslam syndrome
OSMED Syndrome
Ossicular Malformations familial
Ossification of the posterior longitudinal ligament of the spine
Osteoarthropathy of fingers familial
Osteochondritis dissecans
Osteochondrodysplasia thrombocytopenia hydrocephalus
Osteochondroma
Osteodysplasia familial Anderson type
Osteodysplastic dwarfism Corsello type
Osteodysplasty precocious of Danks Mayne and Kozlowski
Osteoectasia familial
Osteogenesis imperfecta
Osteogenesis imperfecta congenita microcephaly and cataracts
Osteogenesis imperfecta Levin type
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 1A
Osteogenesis imperfecta type 2A
Osteogenesis imperfecta type 2B
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Osteogenesis imperfecta type 5
Osteogenesis imperfecta type 6
Osteogenesis imperfecta type 7
Osteogenesis imperfecta type 8
Osteogenesis imperfecta type 9
Osteoglophonic dysplasia
Osteolysis syndrome recessive
Osteomalacia
Osteomyelitis
Osteonecrosis
Osteopathia striata cranial sclerosis
Osteopathia striata with pigmentary dermopathy including white forelock
Osteopenia and sparse hair
Osteopetroses
Osteopetrosis and infantile neuroaxonal dystrophy
Osteopetrosis autosomal dominant type 1
Osteopetrosis autosomal dominant type 2
Osteopetrosis autosomal recessive 1
Osteopetrosis autosomal recessive 2
Osteopetrosis autosomal recessive 3
Osteopetrosis autosomal recessive 4
Osteopetrosis autosomal recessive 5
Osteopetrosis autosomal recessive 6
Osteopetrosis autosomal recessive 7
Osteopoikilosis
Osteopoikilosis and dacryocystitis
Osteoporosis macrocephaly mental retardation blindness
Osteoporosis oculocutaneous hypopigmentation syndrome
Osteoporosis-pseudoglioma syndrome
Osteosarcoma
Osteosclerosis abnormalities of nervous system and meninges
Osteosclerosis autosomal dominant Worth type
Osteosclerosis with ichthyosis and premature ovarian failure
Ota Kawamura Ito syndrome
Oto-Palatal-digital syndrome
Oto-palato-digital syndrome type 1
Oto-palato-digital syndrome type 2
Otodental dysplasia
Otofaciocervical syndrome
Otoonychoperoneal syndrome
Otosclerosis familial
Ouvrier Billson syndrome
Ovarian cancer
Ovarian cancer childhood
Ovarian carcinosarcoma
Ovarian epithelial cancer
Ovarian germ cell tumor
Ovarian insufficiency due to FSH resistance
Ovarian insufficiency familial
Ovarian low malignant potential tumor
Ovarian remnant syndrome
Ovarian small cell carcinoma
Overgrowth radial ray defect arthrogryposis
Overgrowth syndrome type Fryer
Oxalosis
Pachydermoperiostosis
Pachygyria
Pachygyria with mental retardation and seizures
Pachygyria frontotemporal
Pachyonychia congenita
Pachyonychia congenita type 1
Pachyonychia congenita type 2
Pacman dysplasia
Paget disease of bone familial
Paget disease of the breast
Paget disease extramammary
Paget disease juvenile
PAGOD syndrome
Pagon Stephan syndrome
Paine syndrome
Palant cleft palate syndrome
Palatopharyngeal incompetence
Pallidopyramidal syndrome
Pallister W syndrome
Pallister-Hall syndrome
Pallister-Killian mosaic syndrome
Palmer Pagon syndrome
Palmoplantar keratoderma
Palmoplantar keratoderma of Sybert
Palmoplantar keratoderma epidermolytic
Pancreatic adenoma
Pancreatic beta cell agenesis with neonatal diabetes mellitus
Pancreatic cancer
Pancreatic cancer childhood
Pancreatic carcinoma familial
Pancreatic islet cell tumors
Pancreatic lipomatosis duodenal stenosis
Pancreatitis pediatric
Pancreatoblastoma
PANDAS
Panhypopituitarism X-linked
Panostotic fibrous dysplasia
Pantothenate kinase-associated neurodegeneration
Panuveitis
Papillary cystadenocarcinoma
Papillary eccrine adenoma
Papillary renal cell carcinoma
Papilledema
Papillon Lefevre syndrome
Papillorenal syndrome
Papular mucinosis
Papular urticaria
Paracoccidioidomycosis
Paraganglioma and gastric stromal sarcoma
Paragangliomas 1
Paragangliomas 2
Paragangliomas 3
Paragangliomas 4
Paragonimiasis
Parainfluenza virus type 3
Paralysis agitans juvenile of Hunt
Paramyotonia congenita
Paranasal sinus cancer adult
Paranasal sinus cancer childhood
Paraneoplastic cerebellar degeneration
Paraneoplastic Neurologic Disorders
Paraomphalocele
Paraplegia
Parapsoriasis
Paraquat lung
Parastremmatic dwarfism
Parathyroid cancer childhood
Parathyroid carcinoma
PARC syndrome
Parenchymatous cortical degeneration of cerebellum
Paris-Trousseau thrombocytopenia
Parkes Weber syndrome
Parkinson disease 3
Parkinson disease 9
Parkinson disease juvenile autosomal recessive
Parkinsonism early onset with mental retardation
Paroxysmal cold hemoglobinuria
Paroxysmal hemicrania
Paroxysmal nocturnal hemoglobinuria
Paroxysmal ventricular fibrillation
Parry Romberg syndrome
Pars planitis
Parsonage Turner syndrome
Partial agenesis of corpus callosum
Partial atrioventricular canal
Partial deletion of Y
Partial lissencephaly
Partington Anderson syndrome
Partington X-linked mental retardation syndrome
Parvovirus antenatal infection
Pashayan syndrome
Passos-Bueno syndrome
Pasteurella multocida infection
Patau syndrome
Patel Bixler syndrome
Patella aplasia coxa vara tarsal synostosis
Patella hypoplasia mental retardation
Patent ductus arteriosus
Patent ductus venosus
Patterned dystrophy of retinal pigment epithelium
Patterson pseudoleprechaunism syndrome
Patterson Stevenson syndrome
Pauciarticular chronic arthritis
Pearson marrow-pancreas syndrome
Pectus carinatum
Pediatric Crohns disease
Pediatric multiple sclerosis
Pediatric T-cell leukemia
Pediatric ulcerative colitis
Peeling skin syndrome
PEHO syndrome
Pelger-Huet anomaly
Pelizaeus-Merzbacher disease
Pelizaeus-Merzbacher disease late-onset type
Pellagra
Pellagra like syndrome
Pelvic dysplasia arthrogryposis of lower limbs
Pelvic lipomatosis
Pemphigoid gestationis
Pemphigus
Pemphigus and fogo selvagem
Pemphigus foliaceus
Pemphigus vulgaris
Pemphigus vulgaris familial
Pena Shokeir syndrome type 1
Pendred syndrome
Penile cancer adult
Penile cancer childhood
Penis agenesis
Penoscrotal transposition
Pentalogy of Cantrell
Pentosuria
Penttinen-Aula syndrome
PEPCK 1 deficiency
PEPCK 2 deficiency
Peptidic growth factors deficiency
Periarteritis nodosa
Pericardium absent mental retardation short stature
Perilymphatic fistula
Perimyositis
Periodic fever aphthous stomatitis pharyngitis and adenitis
Periodic fever familial autosomal dominant
Peripartum cardiomyopathy
Peripheral T-cell lymphoma
Peripheral type neurofibromatosis
Periventricular leukomalacia
Permanent neonatal diabetes mellitus
Perniosis
Peroxisome biogenesis disorders
Perry syndrome
Persistent hyperinsulinemic hypoglycemia of infancy
Persistent migraine aura without infarction (also known as "Visual Snow")
Persistent Mullerian duct syndrome
Persistent truncus arteriosus
Peters anomaly
Peters plus syndrome
Petit Fryns syndrome
Peutz Jeghers syndrome
Peyronie disease
Pfeiffer Kapferer syndrome
Pfeiffer Mayer syndrome
Pfeiffer Palm Teller syndrome
Pfeiffer Rockelein syndrome
Pfeiffer syndrome
Pfeiffer Tietze Welte syndrome
PHACE syndrome
Phacomatosis fourth
Phacomatosis pigmentokeratotica
Phacomatosis pigmentovascularis
PHAVER syndrome
Phelan-McDermid syndrome
Phenobarbital antenatal infection
Phenobarbital embryopathy
Phenothiazine antenatal infection
Phenylketonuria
Phenylketonuric embryopathy
Pheochromocytoma
Pheochromocytoma childhood
Pheochromocytoma-islet cell tumor syndrome
Philadelphia-negative chronic myeloid leukemia
Phocomelia contractures absent thumb
Phocomelia ectrodactyly deafness sinus arrhythmia
Phocomelia thrombocytopenia encephalocele
Phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia
Phosphoglucomutase deficiency
Phosphoglucomutase deficiency type 1
Phosphoglucomutase deficiency type 2
Phosphoglucomutase deficiency type 3
Phosphoglucomutase deficiency type 4
Phosphoglycerate kinase 1 deficiency
Phosphoglycerate kinase deficiency
Phosphomannoisomerase deficiency
Phosphoribosylpyrophosphate synthetase deficiency
Photosensitive epilepsy
Phyllodes tumor of the prostate
PIBIDS syndrome
Picardi-Lassueur-Little syndrome
Pick's disease
Piebaldism
Piepkorn Karp Hickok syndrome
Pierre Marie cerebellar ataxia
Pierre Robin sequence faciodigital anomaly
Pierre Robin sequence with pectus excavatum and rib and scapular anomalies
Pierre Robin syndrome skeletal dysplasia polydactyly
Pierre Robin's sequence
Pierson syndrome
Pigment-dispersion syndrome
Pigmentary retinopathy
Pigmented purpuric eruption Pigmented villonodular synovitis
Pili annulati
Pili multigemini
Pili torti
Pili torti developmental delay neurological abnormalities
Pili torti onychodysplasia
Pillay syndrome
Pilo dento ungular dysplasia microcephaly
Pilocytic astrocytoma
Pilodental dysplasia with refractive errors
Pilomatrixoma
Pilotto syndrome
Pineal parenchymal tumors of intermediate differentiation
Pineoblastoma
Pineoblastoma childhood
Pineocytoma
Pinheiro Freire-Maia Miranda syndrome
Pinta
Piriformis syndrome
Pitt syndrome
Pitt-Hopkins syndrome
Pituitary cancer
Pituitary dwarfism with large sella turcica
Pituitary hormone deficiency combined 1
Pituitary hormone deficiency combined 2
Pituitary hormone deficiency combined 3
Pituitary hormone deficiency combined 4
Pityriasis lichenoides
Pityriasis lichenoides chronica
Pityriasis lichenoides et varioliformis acuta
Pityriasis rubra pilaris
Piussan Lenaerts Mathieu syndrome
Placenta disorder
Plagiocephaly
Plagiocephaly and X-linked mental retardation
Plasma cell leukemia
Plasma thromboplastin antecedent deficiency
Plasmacytoma anaplastic
Plasmalogens synthesis deficiency isolated
Plasminogen activator inhibitor type 1 deficiency
Platelet disorder familial with associated myeloid malignancy
Platelet storage pool deficiency
Platyspondylic lethal skeletal dysplasia Torrance type
Pleoconial myopathy with salt craving
Pleomorphic malignant fibrous histiocytoma
Pleomorphic xanthoastrocytoma
Pleuropulmonary blastoma
Plexosarcoma
Plummer Vinson syndrome
Pneumocystic carinii pneumonia
Pneumocystosis
Pneumonia eosinophilic
Podder-Tolmie syndrome
POEMS syndrome
Poikiloderma with neutropenia
Poikilodermatomyositis mental retardation
Poikilodermia alopecia retrognathism cleft palate
Pointer syndrome
Poland syndrome
Poliomyelitis
Polyarteritis nodosa
Polyarthritis systemic
Polycystic bone disease
Polycystic kidneys severe infantile with tuberous sclerosis
Polycystic lipomembranous osteodysplasia with sclerosing
leukoencephalopathy
Polycystic liver disease
Polycythemia vera
Polydactyly
Polydactyly alopecia seborrheic dermatitis
Polydactyly cleft lip palate psychomotor retardation
Polydactyly myopia syndrome
Polydactyly postaxial
Polydactyly postaxial dental and vertebral
Polydactyly preaxial type 1
Polydactyly preaxial type 4
Polydactyly syndrome middle ray duplication
Polydactyly visceral anomalies cleft lip palate
Polyembryoma
Polyglucosan body disease adult
Polymicrogyria turricephaly hypogenitalism
Polymorphic catecholergic ventricular tachycardia
Polymorphic reticulosis
Polymorphous low-grade adenocarcinoma
Polymyositis
Polyneuropathy hand defect
Polyneuropathy mental retardation acromicria premature menopause
Polyomavirus allograft nephropathy
Polyosteolysis/hyperostosis syndrome
Polyostotic osteolytic dysplasia hereditary expansile
Polysyndactyly cardiac malformation
Polysyndactyly microcephaly ptosis
Polysyndactyly orofacial anomalies
Polysyndactyly trigonocephaly agenesis of corpus callosum
Polysyndactyly type 4
Polysyndactyly type Haas
Poncet-Spiegler's cylindroma
Pontocerebellar hypoplasia type 1
Pontocerebellar hypoplasia type 2
Pontocerebellar hypoplasia type 3
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 6
Pontoneocerebellar Hypoplasia
Popliteal pterygium syndrome
Popliteal pterygium syndrome lethal type
Porencephaly
Porencephaly cerebellar hypoplasia internal malformations
Porokeratosis of Mibelli
Porokeratosis plantaris palmaris et disseminata
Porokeratosis punctata palmaris et plantaris
Porokeratosis disseminated superficial actinic 1
Porokeratosis disseminated superficial actinic 2
Porphyria
Porphyria cutanea tarda
Portal hypertension
Portal hypertension due to infrahepatic block
Positive rheumatoid factor polyarthritis
Post Polio syndrome
Post-infectious myocarditis
Post-infectious reactive arthropathy
Post-Streptococcal Neurologic Disorders
Post-transplant lymphoproliferative disease
Post-traumatic epilepsy
Postaxial polydactyly mental retardation
Posterior column ataxia
Posterior column ataxia with retinitis pigmentosa
Posterior urethral valves
Posterior valve urethra
Postorgasmic illness syndrome
Postural orthostatic tachycardia syndrome
Potassium aggravated myotonia
Potato nose
Potocki-Lupski syndrome
Potocki-Shaffer syndrome
Potter syndrome
Potter syndrome type 1
Potter syndrome type 2
Potter syndrome type 3
Potter syndrome type 4
Powell Buist Stenzel syndrome
Prader-Willi habitus osteopenia and camptodactyly
Prader-Willi syndrome
Prata Libûral Gonûáalves syndrome
Preaxial deficiency postaxial polydactyly and hypospadias
Precocious epileptic encephalopathy
Precocious myoclonic encephalopathy
Precocious puberty
Precocious puberty gonadotropin-dependent
Preeyasombat Varavithya syndrome
Prekallikrein deficiency congenital
Premature aging Okamoto type
Premature atherosclerosis with photomyoclonic epilepsy deafness diabetes mellitus nephropathy an
Premature ovarian failure familial
Presenile dementia Kraepelin type
Priapism
Prieto X-linked mental retardation syndrome
Primary agammaglobulinemia
Primary amebic meningoencephalitis
Primary angiitis of the central nervous system
Primary basilar impression
Primary biliary cirrhosis
Primary carnitine deficiency
Primary ciliary dyskinesia
Primary cortisol resistance
Primary effusion lymphoma
Primary familial xanthomatosis with involvement and calcification of the adrenal galnds
Primary gastrointestinal melanoma
Primary hyperoxaluria type 1
Primary hyperoxaluria type 2
Primary hyperoxaluria type 3
Primary lateral sclerosis
Primary malignant lymphoma
Primary malignant melanoma of the cervix
Primary malignant melanoma of the conjunctiva
Primary open angle glaucoma juvenile onset 1
Primary orthostatic tremor
Primary progressive aphasia
Primary release disorder of platelets
Primary sclerosing cholangitis
Primary tubular proximal acidosis
Primrose syndrome
Prinzmetal's variant angina
Procarcinoma
Proconvertin deficiency congenital
Progeria
Progeria variant syndrome Ruvalcaba type
Progeroid short stature with pigmented nevi
Progeroid syndrome Petty type
Progeroid syndrome Penttinen type
Prognathism mandibular
Progressive black carbon hyperpigmentation of infancy
Progressive familial heart block type 1A
Progressive familial heart block type 1B
Progressive familial heart block type 2
Progressive hemifacial atrophy
Progressive kinking of the hair acquired
Progressive multifocal leukoencephalopathy
Progressive myoclonic epilepsy
Progressive non-fluent aphasia
Progressive osseous heteroplasia
Progressive Psuedorheumatoid Chondrodysplasia
Progressive supranuclear palsy
Progressive supranuclear palsy atypical
Progressive transformation of germinal centers
Prolactinoma familial
Prolerating trichilemmal cyst
Prolidase deficiency
Proopiomelanocortin deficiency
Properdin deficiency
Properdin deficiency X-linked
Propionic acidemia
Prosencephaly cerebellar dysgenesis
Prosopagnosia hereditary
Prosteglandin-Endoperoxide Synthase Deficiency
Prostatic malacoplakia associated with prostatic abscess
Prostatic stromal proliferation of uncertain malignant potential
Protein R deficiency
Protein S deficiency
Proteus like syndrome mental retardation eye defect
Proteus syndrome
Prothrombin thrombophilia
Protoporphyria
Proud Levine Carpenter syndrome
Proximal spinal muscular atrophy
Prune belly syndrome
Prurigo nodularis
Pruritic urticarial papules plaques of pregnancy
Pseudo Pelger-Huet anomaly
Pseudo-Turner syndrome
Pseudo-Von Willebrand disease
Pseudoachondroplasia
Pseudoachondroplastic dysplasia 2
Pseudoainhum
Pseudoaldosteronism
Pseudoaminopterin syndrome
Pseudoarylsulfatase A deficiency
Pseudocholinesterase deficiency
Pseudodiastrophic dysplasia
Pseudohermaphrodism anorectal anomalies
Pseudohyperkalemia Cardiff
Pseudohypoaldosteronism type 1 autosomal dominant
Pseudohypoaldosteronism type 1 autosomal recessive
Pseudohypoaldosteronism type 2
Pseudohypoparathyroidism
Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type 2
Pseudoinflammatory fundus dystrophy
Pseudomarfanism
Pseudomonas stutzeri infections
Pseudomongolism
Pseudomyotonia
Pseudomyxoma peritonei
Pseudoneonatal adrenoleukodystrophy
Pseudopapilledema blepharophimosis hand anomalies
Pseudopelade of Brocq
Pseudopolycythaemia
Pseudoprogeria syndrome
Pseudopseudohypoparathyroidism
Pseudotrisomy 13 syndrome
Pseudotumor cerebri
Pseudovaginal perineoscrotal hypospadias
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum dominant form
Pseudoxanthoma elasticum forme fruste
Pseudoxanthoma elasticum recessive form
Psittacosis
Pterigium Colli
Pterygia mental retardation and distinctive craniofacial features
Pterygium antecubital
Pterygium colli mental retardation digital anomalies
Pterygium of the conjunctiva and cornea
Ptosis coloboma mental retardation
Ptosis strabismus diastasis
Ptosis strabismus ectopic pupils
Pudendal Neuralgia
Pulmonar arterioveinous aneurysm
Pulmonary alveolar proteinosis acquired
Pulmonary arterio-veinous fistula
Pulmonary arteriovenous malformation
Pulmonary artery agenesis
Pulmonary artery coming from the aorta
Pulmonary artery familial dilatation
Pulmonary artery isolated unilateral absence of (Isolated UAPA)
Pulmonary artery unilateral absence of (UAPA)
Pulmonary atresia with ventricular septal defect
Pulmonary branches stenosis
Pulmonary edema of mountaineers
Pulmonary hypoplasia familial primary
Pulmonary sequestration
Pulmonary supravalvular stenosis
Pulmonary surfactant protein B deficiency of
Pulmonary valve stenosis
Pulmonary valves agenesis
Pulmonary vein stenosis
Pulmonary venoocclusive disease
Pulmonary venous return anomaly
Pulmonaryatresia intact ventricular septum
Pulmonic stenosis
Punctate acrokeratoderma freckle like pigmentation
Punctate inner choroidopathy
Pure autonomic failure
Pure red cell aplasia
Purine nucleoside phosphorylase deficiency
Pycnodysostosis
Pyknoachondrogenesis
Pyle disease
Pyoderma gangrenosum
Pyogenic arthritis pyoderma gangrenosum and acne
Pyomyositis
Pyridoxal 5'-phosphate-dependent epilepsy
Pyridoxine deficiency
Pyridoxine-dependent epilepsy
Pyropoikilocytosis hereditary
Pyruvate carboxylase deficiency
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase deficiency
Pyruvate dehydrogenase phosphatase deficiency
Pyruvate kinase deficiency
Pyruvate kinase deficiency liver type
Pyruvate kinase deficiency muscle type

Rare Diseases Q - R

Rabies
Rabson-Mendenhall syndrome
Radial defect Robin sequence
Radial hypoplasia triphalangeal thumbs and hypospadias
Radial ray agenesis
Radial ray hypoplasia choanal atresia
Radiation induced angiosarcoma of the breast
Radiation induced brachial plexopathy
Radiation induced cancer
Radiation induced meningioma
Radio digito facial dysplasia
Radio renal syndrome
Radio-ulnar synostosis type 1
Radio-ulnar synostosis type 2
Radioulnar synostosis retinal pigment abnormalities
Radioulnar synostosis with microcephaly short stature scoliosis and mental retardation
Radius absent anogenital anomalies
Raine syndrome
Ramer Ladda syndrome
Ramon Syndrome
Ramos Arroyo Clark syndrome
Rapadilino syndrome
Rapp-Hodgkin syndrome
Rasmussen encephalitis
Rasmussen Johnsen Thomsen syndrome
Rat bite fever
Ray Peterson Scott syndrome
Reactive angioendotheliomatosis
Reardon Hall Slaney syndrome
Reardon Wilson Cavanagh syndrome
Recessive developmental delay small stature microcephaly and brain calcifications
Recombinant chromosome 8 syndrome
Rectal cancer childhood
Rectal neoplasm
Rectosigmoid neoplasm
Recurrent peripheral facial palsy
Recurrent respiratory papillomatosis
Red cell phospholipid defect with hemolysis
Red skin pigment anomaly of New Guinea
Reductional transverse limb defects
Reed syndrome
Reese retinal dysplasia
Reflex sympathic dystrophy
Refsum disease
Refsum disease with increased pipecolic acidemia
Refsum disease infantile form
Reginato Shiapachasse syndrome
Reiter syndrome
Relapsing polychondritis
Renal adysplasia dominant type
Renal agenesis meningomyelocele mullerian defect
Renal agenesis bilateral
Renal caliceal diverticuli deafness
Renal cancer
Renal carcinoma familial
Renal cell carcinoma 4
Renal dysplasia - limb defects syndrome
Renal dysplasia diffuse autosomal recessive
Renal dysplasia diffuse cystic
Renal dysplasia limb defects
Renal dysplasia megalocystis sirenomelia
Renal dysplasia mesomelia radiohumeral fusion
Renal dysplasia retinal pigmentary dystrophy cerebellar ataxia and skeletal dysplasia
Renal genital middle ear anomalies
Renal glycosuria
Renal hamartomas nephroblastomatosis and fetal gigantism
Renal hypouricemia
Renal pelvis and ureter transitional cell cancer
Renal rickets
Renal tubular acidosis
Renal tubular acidosis progressive nerve deafness
Renal tubular acidosis distal
Renal tubular acidosis distal autosomal dominant
Renal tubular acidosis distal autosomal recessive
Renal tubular acidosis distal type 3
Renal tubular acidosis distal type 4
Renal tubular dysgenesis
Renal tubulopathy diabetes mellitus and cerebellar ataxia due to duplication of mitochondrial DNA
Renier Gabreels Jasper syndrome
Renoanogenital syndrome
Renoprival hypertension
Renpenning syndrome 1
Resistance to LH (luteinizing hormone)
Resistance to thyroid stimulating hormone
Respiratory distress syndrome infant
Restless legs syndrome susceptibility to 1
Restless legs syndrome susceptibility to 2
Restless legs syndrome susceptibility to 3
Restless legs syndrome susceptibility to 4
Restless legs syndrome susceptibility to 5
Restless legs syndrome susceptibility to 6
Reticular dysgenesis
Reticuloendotheliosis
Retinal cone dystrophy 1
Retinal cone dystrophy 2
Retinal cone dystrophy 3A
Retinal cone dystrophy 3B
Retinal cone dystrophy 4
Retinal degeneration with nanophthalmos cystic macular degeneration and angle closure glaucoma
Retinal dysplasia X-linked
Retinal telangiectasia hypogammaglobulinemia
Retinis pigmentosa deafness hypogenitalism
Retinitis pigmentosa
Retinitis pigmentosa 1
Retinitis Pigmentosa 11
Retinitis pigmentosa 12
Retinitis Pigmentosa 13
Retinitis Pigmentosa 14
Retinitis Pigmentosa 15
Retinitis Pigmentosa 17
Retinitis Pigmentosa 18
Retinitis Pigmentosa 19
Retinitis pigmentosa 2 x linked
Retinitis Pigmentosa 20
Retinitis Pigmentosa 22
Retinitis Pigmentosa 23
Retinitis Pigmentosa 24
Retinitis Pigmentosa 25
Retinitis Pigmentosa 26
Retinitis Pigmentosa 28
Retinitis pigmentosa 29
Retinitis pigmentosa 3
Retinitis Pigmentosa 30
Retinitis Pigmentosa 31
Retinitis Pigmentosa 32
Retinitis Pigmentosa 33
Retinitis Pigmentosa 34
Retinitis Pigmentosa 35
Retinitis Pigmentosa 36
Retinitis Pigmentosa 4
Retinitis Pigmentosa 41
Retinitis Pigmentosa 6
Retinitis Pigmentosa 7
Retinitis Pigmentosa 9
Retinitis pigmentosa deafness mental retardation and hypogonadism
Retinitis pigmentosa-deafness syndrome
Retinoblastoma
Retinohepatoendocrinologic syndrome
Retinopathy anemia CNS anomalies
Retinopathy aplastic anemia neurological abnormalities
Retinopathy of prematurity
Retinopathy pigmentary mental retardation
Retinopathy arteriosclerotic
Retinoschisis autosomal dominant
Retinoschisis of Fovea
Retroperitoneal fibrosis
Retroperitoneal liposarcoma
Rett syndrome
Revesz syndrome
Reye syndrome
Reynolds Neri Hermann syndrome
Reynolds syndrome
Rhabditida Infections
Rhabdoid tumor
Rhabdomyomatous dysplasia cardiopathy genital anomalies
Rhabdomyomatous mesenchymal hamartoma
Rhabdomyosarcoma alveolar
Rhabdomyosarcoma embryonal
Rheumatic Fever
Rheumatoid nodulosis
Rheumatoid vasculitis
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata type 3
Rhizomelic dysplasia Patterson Lowry type
Rhizomelic dysplasia scoliosis and retinitis pigmentosa
Rhizomelic pseudopolyarthritis
Rhizomelic syndrome
RHYNS syndrome
Ribbing disease
Richards-Rundle syndrome
Richieri Costa Da Silva syndrome
Richieri Costa Guion-Almeida syndrome
Richieri Costa Orquizas syndrome
Richieri Costa Pereira syndrome
Richieri-Costa Colletto Otto syndrome
Richieri-Costa Guion-Almeida Cohen syndrome
Richter syndrome
Rickets
Right atrium familial dilatation
Right ventricle hypoplasia
Rigid spine syndrome
Ring dermoid of cornea
Ringed hair disease
Rippling muscle disease
Rippling muscle disease 1
Roberts syndrome
Robin sequence and oligodactyly
Robinow Sorauf syndrome
Robinow syndrome
Robinson Miller Bensimon syndrome
Roch-Leri mesosomatous lipomatosis
Rocky mountain spotted fever
Rod myopathy
Rodini Richieri Costa syndrome
Rodrigues blindness
ROHHAD
Roifman syndrome
Rokitansky sequence
Rokitansky-Aschoff sinuses of the gallbladder
Rombo syndrome
Rommen Mueller Sybert syndrome
Rosai-Dorfman disease
Rosenberg Chutorian syndrome
Rothmund Thomson syndrome
Rotor syndrome
Roussy Levy syndrome
Rowley-Rosenberg syndrome
Roy Maroteaux Kremp syndrome
Rozin Hertz Goodman syndrome
Rubella
Rubella congenital
Rubinstein Taybi like syndrome
Rubinstein-Taybi syndrome
Rud Syndrome
Rudd Klimek syndrome
Rufous oculocutaneous albinism
Rumination disorder
Russell-Silver syndrome
Rutherfurd syndrome
Ruvalcaba Churesigaew Myhre syndrome
Ruvalcaba syndrome
Ruzicka Goerz Anton syndrome

Rare Diseases S - T

Saal Bulas syndrome
Sabinas brittle hair syndrome
Saccharopinuria
Sackey Sakati Aur syndrome
Sacral agenesis
Sacral defect with anterior meningocele
Sacral hemangiomas multiple congenital abnormalities
Sacral meningocele conotruncal heart defects
Sacral plexopathy
Sacrococcygeal Teratoma
Saethre-Chotzen syndrome
Saito Kuba Tsuruta syndrome
Sakati syndrome
Sakoda complex
Salcedo syndrome
Salivary gland cancer adult
Salivary gland cancer childhood
Salla disease
Sallis Beighton syndrome
Sammartino Decreccio syndrome
Samson Gardner syndrome
Samson Viljoen syndrome
Sanderson Fraser syndrome
Sandhaus Ben-Ami syndrome
Sandhoff disease
Sandifer syndrome
Santos Mateus Leal syndrome
SAPHO syndrome
Sarcoidosis
Sarcoma botryoides
Sarcosinemia
SARS
Satoyoshi syndrome
Saul Wilkes Stevenson syndrome
Say Barber Miller syndrome
Say Carpenter syndrome
Say Field Coldwell syndrome
Say Meyer syndrome
Say syndrome
Scalp defects postaxial polydactyly
Scalp ear nipple syndrome
Scaphotrapeziotrapezoid arthrodesis
Scapuloperoneal myopathy
Scapuloperoneal myopathy MYH7-related
Scapuloperoneal syndrome neurogenic Kaeser type
SCARF syndrome
Schaap Taylor Baraitser syndrome
Schaefer Stein Oshman syndrome
Scheuermann disease
Schimke immunoosseous dysplasia
Schimke X-linked mental retardation syndrome
Schindler disease type 1
Schinzel Giedion syndrome
Schisis association
Schistosomiasis
Schizencephaly
Schizophrenia mental retardation deafness retinitis
Schizotaxia
Schlegelberger Grote syndrome
Schmitt Gillenwater Kelly syndrome
Schneckenbecken dysplasia
Schnitzler syndrome
Scholte syndrome
Schrander-Stumpel Theunissen Hulsmans syndrome
Schroer Hammer Mauldin syndrome
Schwannoma
Schwannomatosis
Schwartz Cohen-Addad Lambert syndrome
Schwartz Jampel syndrome type 1
Scleredema
Scleroatonic muscular dystrophy
Sclerocornea Syndactyly ambiguous genitalia
Scleromyxedema
Sclerosing bone dysplasia mental retardation
Sclerosing mesenteritis
Sclerosteosis
Sclerotylosis
Scoliosis as part of NF
Scoliosis with unilateral unsegmented bar
SCOT deficiency
Scott Bryant Graham syndrome
Scott syndrome
Scurvy
Sea-Blue histiocytosis
Seaver Cassidy syndrome
Sebaceous gland hyperplasia familial presenile
Sebocystomatosis
Secernentea Infections
Seckel like syndrome Majoor-Krakauer type
Seckel syndrome
Secretory breast carcinoma
Sedlackova syndrome
Seemanova Lesny syndrome
Segawa syndrome autosomal recessive
Seghers syndrome
Segmental vertebral anomalies
Segmentation syndrome 1
Seizures benign familial neonatal recessive form
Seizures mental retardation hair dysplasia
Selective IgA deficiency
Selenium poisoning
Selig Benacerraf Greene syndrome
Semantic dementia
Seminoma
Semmekrot Haraldsson Weemaes syndrome
Sener syndrome
Senior Loken Syndrome
Sennetsu Fever
Sensory ataxic neuropathy dysarthria and ophthalmoparesis
Sensory neuropathy type 1
Senter syndrome
Seow Najjar syndrome
Sepiapterin reductase deficiency
Septo-optic dysplasia
Sequeiros Sack syndrome
Seres-Santamaria Arimany Muniz syndrome
Serkal syndrome
Serpentine fibula polycystic kidney syndrome
Serpiginous choroiditis
Sertoli cell-only syndrome
Sertoli-leydig cell tumors
SeSAME syndrome
Severe achondroplasia with developmental delay and acanthosis nigricans
Severe combined immunodeficiency
Severe combined immunodeficiency with sensitivity to ionizing radiation
Severe combined immunodeficiency atypical
Severe congenital neutropenia autosomal dominant
Severe congenital neutropenia autosomal recessive 3
Severe congenital neutropenia X-linked
Severe generalized recessive dystrophic epidermolysis bullosa
Severe immunodeficiency autosomal recessive T-cell negative B-cell negative NK cell-positive
Severe infantile axonal neuropathy
Severe mental retardation and absent nails of hallux and pollex
Sezary syndrome
Shapiro syndrome
Sharma Kapoor Ramji syndrome
Sharp syndrome
Shaver's disease
Sheehan syndrome
Shigellosis
Shith Filkins syndrome
Short bowel syndrome
Short broad great toe macrocranium
Short chain acyl CoA dehydrogenase deficiency
Short limb dwarf edema iris coloboma
Short limb dwarf lethal Colavita Kozlowski type
Short limb dwarf lethal Mcalister Crane type
Short limbs abnormal face congenital heart disease
Short limbs subluxed knees cleft palate
Short rib-polydactyly syndrome type 3
Short rib-polydactyly syndrome type 1
Short rib-polydactyly syndrome type 2
Short rib-polydactyly syndrome type 4
Short ribs craniosynostosis polysyndactyly
Short stature abnormal skin pigmentation mental retardation
Short stature contractures hypotonia
Short stature cranial hyperostosis hepatomegaly
Short stature deafness neutrophil dysfunction
Short stature dysmorphic face pelvic scapula dysplasia
Short stature hyperkaliemia acidosis
Short stature mental retardation eye anomalies
Short stature microcephaly seizures deafness
Short stature monodactylous ectrodactyly cleft palate
Short stature prognathism short femoral necks
Short stature Robin sequence cleft mandible hand anomalies clubfoot
Short stature syndrome Brussels type
Short stature talipes natal teeth
Short stature valvular heart disease
Short stature webbed neck heart disease
Short stature wormian bones dextrocardia
Short stature cranial hyperostosis hepatomegaly and diabetes
SHORT syndrome
Short tarsus absence of lower eyelashes
Shoulder and thorax deformity congenital heart disease
Shoulder girdle defect mental retardation familial
Shprintzen omphalocele syndrome
Shprintzen omphalocele syndrome
Shprintzen-Goldberg craniosynostosis syndrome
Shwachman-Diamond syndrome
Shwartzman phenomenon
Sialadenitis
Sialidosis type I
Sialidosis type II
Sialuria French type
Sickle cell anemia
Sickle delta beta thalassemia
Siderius X-linked mental retardation syndrome
Sideroblastic anemia acquired
Sideroblastic anemia and mitochondrial myopathy
Sideroblastic anemia pyridoxine-refractory autosomal recessive
Sideroblastic anemia pyridoxine-responsive autosomal recessive
Sideroblastic anemia X-linked
Siderosis
Siegler Brewer Carey syndrome
Signet ring cell carcinoma
Silengo Lerone Pelizza syndrome
Silicosiderosis
Silicosis
Sillence syndrome
Silver-Russell syndrome
Silvery hair syndrome
Simian B virus infection
Simosa cranio facial syndrome
Simpson-Golabi-Behmel syndrome
Sine scleroderma
Singh Chhaparwal Dhanda syndrome
Single upper central incisor
Single ventricular heart
Singleton Merten syndrome
Sinonasal undifferentiated carcinoma
Sinus cancer
Sinus node disease and myopia
Sirenomelia
Sitosterolemia
Situs inversus
Situs inversus totalis with cystic dysplasia of kidneys and pancreas
Sixth nerve palsy
Sjogren's syndrome juvenile secondary to autoimmune disease
Sjogren-Larsson syndrome
Sjogren-Larsson-like syndrome
Skeletal dysplasia orofacial anomalies
Skeletal dysplasia San Diego type
Skeleto cardiac syndrome with thrombocytopenia
Skin cancer non melanoma childhood
Skin fragility woolly hair syndrome
Slavotinek Pike Mills Hurst syndrome
Slti Salem syndrome
Small cell lung cancer childhood
Small cell lung cancer adult
Small intestine cancer
Small intestine cancer childhood
Small non-cleaved cell lymphoma
Smallpox
Smith Martin Dodd syndrome
Smith McCort dysplasia
Smith-Lemli-Opitz syndrome type 1
Smith-Lemli-Opitz syndrome type 2
Smith-Magenis syndrome
Sneddon syndrome
Snowflake vitreoretinal degeneration
Snyder Robinson syndrome
Soft tissue sarcoma
Soft tissue sarcoma childhood
Sohval Soffer syndrome
Somatostatinoma
Sommer Hines syndrome
Sommer Rathbun Battles syndrome
Sommer Young Wee Frye syndrome
Sondheimer syndrome
Sonoda syndrome
Sosby syndrome
Sotos syndrome
Sparse hair ptosis mental retardation
Spasmodic dysphonia
Spastic angina with healthy coronary artery
Spastic ataxia Charlevoix-Saguenay type
Spastic diplegia infantile type
Spastic paraparesis
Spastic paraparesis deafness
Spastic paraplegia 1
Spastic paraplegia 10
Spastic paraplegia 11
Spastic paraplegia 12
Spastic paraplegia 13
Spastic paraplegia 14
Spastic paraplegia 15
Spastic paraplegia 16
Spastic paraplegia 17
Spastic paraplegia 18
Spastic paraplegia 19
Spastic paraplegia 2
Spastic paraplegia 20
Spastic paraplegia 23
Spastic paraplegia 24
Spastic paraplegia 25
Spastic paraplegia 26
Spastic paraplegia 29
Spastic paraplegia 3
Spastic paraplegia 31
Spastic paraplegia 39
Spastic paraplegia 4
Spastic paraplegia 5A
Spastic paraplegia 5B
Spastic paraplegia 6
Spastic paraplegia 7
Spastic paraplegia 8
Spastic paraplegia 9
Spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation
Spastic paraplegia epilepsy mental retardation
Spastic paraplegia facial cutaneous lesions
Spastic paraplegia nephritis deafness
Spastic paraplegia neuropathy poikiloderma
Spastic paraplegia with precocious puberty
Spastic paresis glaucoma mental retardation
Spastic quadriplegia retinitis pigmentosa mental retardation
Spasticity mental retardation
Spasticity multiple exostoses
Spellacy gibbs watts syndrome
Spermatogenesis arrest
Spheroid body myopathy
Sphingolipidosis
Spiegler-Brooke syndrome
Spielmeyer-Vogt-Sjogren-Batten disease
Spina bifida
Spina bifida hypospadias
Spinal atrophy ophthalmoplegia pyramidal syndrome
Spinal bulbar motor neuropathy
Spinal cord neoplasm
Spinal dysostosis type Anhalt
Spinal intradural arachnoid cysts
Spinal muscular atrophy
Spinal muscular atrophy 1
Spinal muscular atrophy Ryukyuan type
Spinal muscular atrophy type 1 with congenital bone fractures
Spinal muscular atrophy type 2
Spinal muscular atrophy type 3
Spinal muscular atrophy type 4
Spinal muscular atrophy with respiratory distress 1
Spinal shock
Spine rigid cardiomyopathy
Spinocerebellar ataxia
Spinocerebellar ataxia 1
Spinocerebellar ataxia 10
Spinocerebellar ataxia 11
Spinocerebellar ataxia 12
Spinocerebellar ataxia 13
Spinocerebellar ataxia 14
Spinocerebellar ataxia 15
Spinocerebellar ataxia 17
Spinocerebellar ataxia 18
Spinocerebellar ataxia 19
Spinocerebellar ataxia 2
Spinocerebellar ataxia 20
Spinocerebellar ataxia 21
Spinocerebellar ataxia 23
Spinocerebellar ataxia 25
Spinocerebellar ataxia 26
Spinocerebellar ataxia 27
Spinocerebellar ataxia 28
Spinocerebellar ataxia 29
Spinocerebellar ataxia 3
Spinocerebellar ataxia 30
Spinocerebellar ataxia 31
Spinocerebellar ataxia 4
Spinocerebellar ataxia 5
Spinocerebellar ataxia 6
Spinocerebellar ataxia 7
Spinocerebellar ataxia 8
Spinocerebellar ataxia 9
Spinocerebellar ataxia autosomal recessive 1
Spinocerebellar ataxia autosomal recessive 3
Spinocerebellar ataxia autosomal recessive 4
Spinocerebellar ataxia autosomal recessive 5
Spinocerebellar ataxia autosomal recessive 6
Spinocerebellar ataxia autosomal recessive with axonal neuropathy
Spinocerebellar ataxia with dysmorphism
Spinocerebellar ataxia X-linked type 2
Spinocerebellar ataxia X-linked type 3
Spinocerebellar ataxia X-linked type 4
Spinocerebellar degeneration and corneal dystrophy
Spinocerebellar degenerescence book type
Spirochetes disease
Spirurida Infections
Spitz nevus
Spleen neoplasm
Splenic infarcts
Splenogonadal fusion limb defects micrognatia
Splenomegaly
Split hand foot malformation
Split hand foot malformation 1
Split hand split foot malformation autosomal recessive
Split hand split foot mandibular hypoplasia
Split hand split foot nystagmus
Split hand urinary anomalies spina bifida
Split hand/foot malformation X-linked
Spondylarthropathy
Spondylocamptodactyly
Spondylocarpotarsal synostosis syndrome
Spondylocostal dysostosis 1
Spondylocostal dysostosis 2
Spondylocostal dysostosis 3
Spondylocostal dysostosis 4
Spondyloenchondrodysplasia
Spondyloepimetaphyseal dysplasia Genevieve type
Spondyloepimetaphyseal dysplasia joint laxity
Spondyloepimetaphyseal dysplasia Matrilin-3 related
Spondyloepimetaphyseal dysplasia micromelic
Spondyloepimetaphyseal dysplasia Missouri type
Spondyloepimetaphyseal dysplasia Shohat type
Spondyloepimetaphyseal dysplasia Sponastrime type
Spondyloepimetaphyseal dysplasia Strudwick type
Spondyloepimetaphyseal dysplasia with hypotrichosis
Spondyloepimetaphyseal dysplasia with multiple dislocations
Spondyloepimetaphyseal dysplasia X-linked
Spondyloepimetaphyseal dysplasia x-linked with mental deterioration
Spondyloepimetaphyseal dysplasia Aggrecan type
Spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia Maroteaux type
Spondyloepiphyseal dysplasia Omani type
Spondyloepiphyseal dysplasia tarda autosomal dominant
Spondyloepiphyseal dysplasia tarda progressive arthropathy
Spondyloepiphyseal dysplasia tarda Toledo type
Spondyloepiphyseal dysplasia tarda X-linked
Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
Spondylohypoplasia arthrogryposis and popliteal pterygium
Spondylometaepiphyseal dysplasia short limb-hand type
Spondylometaphyseal dysplasia Algerian type
Spondylometaphyseal dysplasia axial
Spondylometaphyseal dysplasia corner fracture type
Spondylometaphyseal dysplasia East-African type
Spondylometaphyseal dysplasia Kozlowski type
Spondylometaphyseal dysplasia Sedaghatian type
Spondylometaphyseal dysplasia type A4
Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
Spondylometaphyseal dysplasia with cone-rod dystrophy
Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Spondylometaphyseal dysplasia X-linked
Spondyloperipheral dysplasia
Spondylospinal thoracic dysostosis
Spondylothoracic dysostosis
Spongiform encephalopathy
Spontaneous coronary artery dissection
Spontaneous periodic hypothermia
Spontaneous pneumothorax familial type
Sporotrichosis
Spotted fever
Spranger Schinzel Myers syndrome
Sprengel deformity
Squamous cell carcinoma of the head and neck
St Anthony's fire
Stachybotrys chartarum
Stalker Chitayat syndrome
Stampe sorensen syndrome
Staphylococcal food poisoning
Staphylococcal toxic shock syndrome
STAR syndrome
Stargardt disease
Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features
Status epilepticus
Steatocystoma multiplex
Steatocystoma multiplex with natal teeth
Steinfeld syndrome
Stenotrophomonas maltophilia
Sterility due to immotile flagella
Stern Lubinsky Durrie syndrome
Sternal cleft
Sternal cyst vascular anomalies
Sternal malformation vascular dysplasia association
Steroid dehydrogenase deficiency dental anomalies
Stevens-Johnson syndrome
Stewart Treves syndrome
Stickler syndrome
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome type 3
Stiff person syndrome
Stiff skin syndrome
Still's disease adult onset
Stocco dos Santos syndrome
Stoelinga de Koomen Davis syndrome
Stoll Alembik Dott syndrome
Stoll alembik finck syndrome
Stoll geraudel chauvin syndrome
Stoll kieny dott syndrome
Stomach cancer childhood
Stomach cancer familial
Stomach carcinoma
Stomatocytosis I
Stomatocytosis II
Storm syndrome
Stratton garcia young syndrome
Stratton Parker syndrome
Streptococcal Group A invasive disease
Streptococcal Group B invasive disease
Stress cardiomyopathy
Striatonigral degeneration infantile
Strongyloidiasis
Stuart factor deficiency congenital
Sturge-Weber syndrome
Stuve-Wiedemann syndrome
Subacute sclerosing panencephalitis
Subaortic stenosis short stature syndrome
Subcutaneous panniculitis-like T-cell lymphoma
Subependymal giant cell astrocytoma
Subependymal nodular heterotopia
Subependymoma
Subpulmonary stenosis
Subvalvular aortic stenosis
Succinic acidemia
Succinic acidemia lactic acidosis congenital
Succinic semialdehyde dehydrogenase deficiency
Succinyl-CoA acetoacetate transferase deficiency
Sudden Arrhythmia Death Syndrome
Sudden infant death syndrome
Sugarman brachydactyly
Sulfite oxidase deficiency
Summitt syndrome
SUNCT headache
Superficial siderosis of the central nervous system
Superficial spreading melanoma
Superior mesenteric artery syndrome
Superior vena cava syndrome
Supernumerary nipples
Supraglottic laryngeal cancer
Supranuclear ocular palsy
Supratentorial primitive neuroectodermal tumor
Supratentorial primitive neuroectodermal tumors childhood
Supraumbilical midabdominal raphe and facial cavernous hemangiomas
Susac syndrome
Sutton disease 2
Swyer James syndrome
Swyer syndrome
Sydenham's chorea
Symmastia
Symmetrical thalamic calcifications
Symphalangism brachydactyly
Symphalangism brachydactyly craniosynostosis
Symphalangism distal
Symphalangism familial proximal
Symphalangism short stature accessory testis
Symphalangism with multiple anomalies of hands and feet
Symphalangism distal with microdontia dental pulp stones and narrowed zygomatic arch
Syncamptodactyly scoliosis
Syndactyly cataract mental retardation

Syndactyly Cenani Lenz type
Syndactyly ectodermal dysplasia cleft lip palate hand foot
Syndactyly type 1
Syndactyly type 1 with cataracts and mental retardation
Syndactyly type 2
Syndactyly type 3
Syndactyly type 5
Syndactyly type 9
Syndactyly-polydactyly-earlobe syndrome
Syndesmodysplasic dwarfism
Syngnathia cleft palate
Syngnathia multiple anomalies
Synostoses tarsal carpal and digital
Synostosis of talus and calcaneus short stature
Synovial cancer
Synovial Chondromatosis
Synovial chondromatosis familial with dwarfism
Synovial sarcoma
Synovitis
Synovitis acne pustulosis hyperostosis osteitis
Syphilitic aseptic meningitis
Syphilitic myelopathy
Syringobulbia
Syringocystadenoma papilliferum
Syringomas natal teeth oligodontia
Syringomelia hyperkeratosis
Syringomyelia
Systemic candidiasis
Systemic capillary leak syndrome
Systemic mastocytosis
Systemic necrotizing angitis
T cell immunodeficiency primary
T-cell immunodeficiency congenital alopecia and nail dystrophy
T-cell lymphoma 1A
T-Lymphocytopenia
Tabatznik syndrome
Tachycardia hypertension microphthalmia and hyperglycinuria
Takayasu arteritis
Talipes equinovarus
Talo-patello-scaphoid osteolysis synovitis and short fourth metacarpals
Talonavicular coalition
Tang Hsi Ryu syndrome
Tangier disease
TAR syndrome
Tarlov cysts
TARP syndrome
Tarsal carpal coalition syndrome
Tarsal tunnel syndrome
TAU syndrome
Taurodontia absent teeth sparse hair
Taurodontism
Taurodontism microdontia and dens invaginatus
Tay Sachs disease
Teebi Kaurah syndrome
Teebi Naguib Al Awadi syndrome
Teebi Shaltout syndrome
Teebi syndrome
Teeth noneruption of with maxillary hypoplasia and genu valgum
Tel Hashomer camptodactyly syndrome
Telencephalic leukoencephalopathy
Telfer Sugar Jaeger syndrome
Temporal arteritis
Temporal epilepsy familial
Temporomandibular ankylosis
Temtamy preaxial brachydactyly syndrome
Temtamy syndrome
Tendons extensor of fingers anomalous insertion of
Teratoma
Testicular cancer
Testicular cancer childhood
Testotoxicosis
Tetanus
Tetra-amelia syndrome
Tetraamelia multiple malformations X-linked
Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
Tetraamelia with pulmonary hypoplasia
Tetrahydrobiopterin deficiency
Tetralogy of fallot and glaucoma
Tetraploidy
Tetrasomy X
Thai symphalangism syndrome
Thakker Donnai syndrome
Thalamic degeneration symmetrical infantile
Thalamic degeneration symmetric infantile
Thalassemia
Thanatophoric dysplasia Glasgow variant
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Theodor Hertz Goodman syndrome
Thiamine responsive megaloblastic anemia syndrome
Thickened earlobes with conductive deafness from incus-stapes abnormalities
Thin ribs tubular bones dysmorphism
Thiolase deficiency
Thiopurine S methyltranferase deficiency
Thomas Jewett Raines syndrome
Thomas syndrome
Thompson Baraitser syndrome
Thoracic celosomia
Thoracic dysplasia hydrocephalus syndrome
Thoracic outlet syndrome
Thoraco abdominal enteric duplication
Thoraco limb dysplasia Rivera type
Thoracolaryngopelvic dysplasia
Thoracomelic dysplasia
Thoracopelvic dysostosis
Thost-Unna palmoplantar keratoderma
Three M syndrome
Thrombasthenia
Thrombocytopathy asplenia miosis
Thrombocytopenia 2
Thrombocytopenia cerebellar hypoplasia short stature
Thrombocytopenia essential
Thrombocytopenia Robin sequence
Thrombocytopenia with elevated serum IgA and renal disease
Thrombocytopenia acquired amegakaryocytic
Thrombocytopenia x-linked
Thrombomodulin anomalies familial
Thrombotic thrombocytopenic purpura acquired
Thrombotic thrombocytopenic purpura congenital
Thumb absence hypoplastic halluces
Thumb absent short stature immune deficiency
Thumb deformity
Thumb deformity alopecia pigmentation anomaly
Thumb stiff brachydactyly mental retardation
Thunderclap headache
Thymic epithelial tumor
Thymic hyperplasia
Thymic-Renal-Anal-Lung dysplasia
Thymoma childhood
Thyrocerebral-retinal syndrome
Thyroglossal tract cyst
Thyroid agenesis
Thyroid cancer anaplastic
Thyroid cancer childhood
Thyroid cancer follicular
Thyroid cancer Hurthle cell
Thyroid cancer medullary
Thyroid hormone plasma membrane transport defect
Thyrotoxic periodic paralysis
Thyrotropin deficiency isolated
Tibia absent polydactyly arachnoid cyst
Tibiae bowed radial anomalies osteopenia fracture
Tibial aplasia ectrodactyly hydrocephalus
Tibial hemimelia cleft lip palate
Tick paralysis
Tick-borne encephalitis
Tiû?che-Jadassohn nevus
Tietz syndrome
Tietze syndrome
Tight skin contracture syndrome lethal
Tiglic acidemia
Togaviridae disease
Tollner Horst Manzke syndrome
Tolosa Hunt syndrome
Tome Brunet Fardeau syndrome
Tongue cancer
Toni-Debre-Fanconi syndrome
Toni-Fanconi syndrome
Tonoki syndrome
TORCH syndrome
Torg Winchester syndrome
Toriello Carey syndrome
Torsion dystonia
Torsion dystonia with onset in infancy
Torticollis keloids cryptorchidism renal dysplasia
Torticollis familial
Total Hypotrichosis Mari type
Touraine Solente Gole syndrome
Townes-Brocks syndrome
Toxic epidermal necrolysis
Toxocariasis
Trabecular fiber myopathy
Tracheal agenesis
Tracheal agenesis without tracheoesophageal fistula
Tracheobronchomalacia
Tracheobronchomegaly
Tracheobronchopathia osteoplastica
Tracheoesophageal fistula
Tracheoesophageal fistula symphalangism
Tracheophageal fistula hypospadias
Trachoma
Tranebjaerg Svejgaard syndrome
Transaldolase deficiency
Transcobalamin 1 deficiency
Transient Acantholytic Dermatosis
Transient bullous dermolysis of the newborn
Transient erythroblastopenia of childhood
Transient global amnesia
Transient neonatal arthrogryposis
Transitional cell carcinoma
Transposition of the great arteries
Transverse limb deficiency hemangioma
Transverse myelitis
Treacher Collins syndrome
Treft Sanborn Carey syndrome
Trehalase deficiency
Tremor hereditary essential 1
Tremor hereditary essential 2
Tremors nystagmus and duodenal ulcers
Treponema infection
Trichinosis
Tricho odonto onycho dermal syndrome
Tricho odonto onychodysplasia syndactyly dominant type
Tricho onychic dysplasia
Tricho onycho hypohidrotic dysplasia
Tricho retino dento digital syndrome
Tricho-dento-osseous syndrome
Tricho-dento-osseous syndrome 1
Tricho-hepato-enteric syndrome
Trichodental syndrome
Trichodermodysplasia dental alterations
Trichodysplasia xeroderma
Trichoepithelioma multiple familial 1
Trichoepithelioma multiple familial 2
Trichofolliculoma
Trichomalacia
Trichomegaly cataract hereditary spherocytosis
Trichomegaly with mental retardation dwarfism and pigmentary degeneration of retina
Trichoodontoonychial dysplasia
Trichorhinophalangeal syndrome type 1
Trichorhinophalangeal syndrome type 2
Trichorhinophalangeal syndrome type 3
Trichorrhexis nodosa syndrome
Trichoscyphodysplasia
Trichostasis spinulosa
Trichothiodystrophy nonphotosensitive
Trichothiodystrophy photosensitive
Trichotillomania
Trichuriasis
Tricuspid atresia
Trigeminal neuralgia
Trigger thumb
Trigonocephaly bifid nose acral anomalies
Trigonocephaly ptosis mental retardation
Trigonomacrocephaly tibial defect polydactyly
Trihydroxycholestanoylcoa oxidase isolated deficiency
Trimethylaminuria
Triopia
Triose phosphate-isomerase deficiency
Triphalangeal thumb non opposable
Triphalangeal thumb polysyndactyly syndrome
Triphalangeal thumbs brachyectrodactyly
Triple A syndrome
Triploidy
Trismus-pseudocamptodactyly syndrome
Trisomy 1 mosaicism
Trisomy 11 mosaicism
Trisomy 12 mosaicism
Trisomy 13
Trisomy 17 mosaicism
Trisomy 2 mosaicism
Trisomy 3 mosaicism
Trisomy 6
Trisomy 18 Chimerism, genetically displayed as XX/XY+18
Trochlea of the humerus aplasia of
Trochlear dysplasia
Trophoblastic tumor placental site
Tropical sprue
Trueb Burg Bottani syndrome
Trypanosomiasis Human East-African
Trypanosomiasis Human West-African
Tryptophanuria with dwarfism
Tsukahara Azuno Kajii syndrome
Tsukahara Kajii syndrome
Tuberculosis
Tuberculous meningitis
Tuberculous uveitis
Tuberous sclerosis
Tuberous sclerosis type 1
Tuberous sclerosis type 2
Tubulointerstitial nephritis and uveitis
Tucker syndrome
Tuffli Laxova syndrome
Tufted angioma
Tufted hair folliculitis
Tufting enteropathy
Tukel syndrome
Tularemia
Tumor Necrosis Factor Receptor-Associated Periodic syndrome (TRAPS)
Tungiasis
Tunglang Savage Bellman syndrome
Turcot syndrome
Turner syndrome
Twenty-nail dystrophy
Twin twin transfusion syndrome
Tylosis
Type 1 plasminogen deficiency
Typhoid fever
Typhus
Tyrosine-oxidase temporary deficiency
Tyrosinemia type 1
Tyrosinemia type 2
Tyrosinemia type 3

Rare Diseases U - V

Uhl anomaly
Ulerythema ophryogenesis
Ulna and fibula absence of with severe limb deficiency
Ulna and fibula hypoplasia of
Ulna hypoplasia with mental retardation
Ulna metaphyseal dysplasia syndrome
Ulnar hypoplasia lobster claw deformity of feet
Ulnar-mammary syndrome
Umbilical cord ulceration and intestinal atresia
Uncombable hair syndrome
Uniparental disomy of 6
Uniparental disomy of 13
Uniparental disomy of chromosome 11
Uniparental disomy of chromosome 2
Uniparental disomy paternal chromosome 14
Unverricht-Lundborg disease
Upington disease
Upton Young syndrome
Urachal adenocarcinoma
Urachal cancer
Urachal cyst
Urea cycle disorders
Urethral cancer
Urethral obstruction sequence
Urioste Martinez-Frias syndrome
Urocanase deficiency
Urogenital adysplasia
Urogenital adysplasia hereditary
Uropathy distal obstructive polydactyly
Usher syndrome
Usher syndrome type 2A
Usher syndrome type 1
Usher syndrome type 1B
Usher syndrome type 1C
Usher syndrome type 1D
Usher syndrome type 1E
Usher syndrome type 1F
Usher syndrome type 2B
Usher syndrome type 2C
Usher syndrome type 3
Usual interstitial pneumonia
Uterine sarcoma
Uveal diseases
VACTERL association
VACTERL association with hydrocephaly X-linked
VACTERL hydrocephaly
Vacuolar myopathy
Vagina absence of
Vaginal cancer
Vagneur Triolle Ripert syndrome
Valinemia
Van Allen Myhre syndrome
Van Benthem-Driessen-Hanveld syndrome
Van Bogaert-Hozay syndrome
Van Buchem disease type 2
Van Den Bosch syndrome
Van der Woude syndrome
Van der Woude syndrome 2
Van Goethem syndrome
Van Maldergem Wetzburger Verloes syndrome
Van Regemorter Pierquin Vamos syndrome
Vanishing White Matter Disease (VWM/CACH)
Variant Creutzfeldt-Jakob disease
Varicella virus antenatal infection
Variegate porphyria
Vascular hyalinosis
Vascular malposition
Vasculopathy retinal with cerebral leukodystrophy
Vasquez Hurst Sotos syndrome
Vein of Galen aneurysm
Velocardiofacial syndrome
Velofacioskeletal syndrome
Venencie Powell Gordon Winkelmann syndrome
Venezuelan equine encephalitis
Ventricular extrasystoles perodactyly Robin sequence
Ventricular familial preexcitation syndrome
Ventricular fibrillation idiopathic
Ventricular septal defects
Ventriculo-arterial discordance isolated
Ventruto Digirolamo Festa syndrome
Verloes Bourguignon syndrome
Verloes Gillerot Fryns syndrome
Verloes Van Maldergem Marneffe syndrome
Verloove Vanhorick Brubakk syndrome
Vernal keratitis
Vernal keratoconjunctivitis
Verrucous nevus acanthokeratolytic
Vertebral body fusion overgrowth
Vertebral fusion posterior lumbosacral blepharoptosis
Vertical talus congenital
Vestibulocochlear dysfunction progressive
Vibratory angioedema
Vibrio vulnificus infection
Viljoen Kallis Voges syndrome
Viljoen Smart syndrome
Viljoen Winship syndrome
VIPoma
Viral hemorrhagic fever
Virilizing ovarian tumor
Virus associated hemophagocytic syndrome
Visceral myopathy familial with external ophthalmoplegia
Visceral neuropathy familial
Visceral steatosis
Viscero-atrial heterotaxia
Visual pathway and hypothalamic glioma childhood
Vitamin A embryopathy
Vitiligo mental retardation facial dysmorphism uremia
Vitreoretinal degeneration
Vitreoretinochoroidopathy dominant
VLCAD deficiency
Vocal cord dysfunction familial
Vogt-Koyanagi-Harada syndrome
Vohwinkel syndrome
Von Hippel-Lindau syndrome
Vulvar cancer
Vulvar Vestibulitis Syndrome

Rare Diseases W - X

Waaler Aarskog syndrome
Waardenburg syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 2
Waardenburg syndrome type 2A
Waardenburg syndrome type 2B
Waardenburg syndrome type 3
Waardenburg syndrome type 4
Wagner syndrome
WAGR syndrome
Walbaum Titran Durieux Crepin syndrome
Waldenstrom macroglobulinemia
Waldmann disease
Walker Dyson syndrome
Walker-Warburg syndrome
Wallenberg syndrome
Wallerian degeneration
Wandering spleen
Warburg micro syndrome
Warfarin syndrome
Warm-reacting-antibody hemolytic anemia
Warman Mulliken Hayward syndrome
Warthin's tumor
Waterhouse-Friderichsen syndrome
Watermelon stomach
Watson syndrome
WDHA syndrome
Weaver Johnson syndrome
Weaver like syndrome
Weaver syndrome
Weaver Williams syndrome
Weber syndrome
Webster Deming syndrome
Wegener's granulomatosis
Wegmann Jones Smith syndrome
Weill-Marchesani syndrome
Weinstein Kliman Scully syndrome
Weissenbacher-Zweymuller syndrome
Welander distal myopathy Swedish type
Weleber Hecht Bigley syndrome
Wellesley Carmen French syndrome
Wells Jankovic syndrome
Wells syndrome
Werner's syndrome
Wernicke-Korsakoff syndrome
West nile encephalitis
West nile virus
West syndrome
Western equine encephalitis
Westphal disease
Weyers acrofacial dysostosis
Weyers ulnar ray/oligodactyly syndrome
WHIMS
Whipple disease
Whispering dysphonia hereditary
Whistling face syndrome recessive form
Whitaker syndrome
White forelock with malformations
White matter hypoplasia corpus callosum agenesia and mental retardation
White platelet syndrome
White sponge nevus of cannon
Whooping cough
Wieacker syndrome
Wiedemann Grosse Dibbern syndrome
Wiedemann Oldigs Oppermann syndrome
Wiedemann Opitz syndrome
Wildervanck syndrome
Wilkes Stevenson syndrome
Wilkie Taylor Scambler syndrome
Willems De vries syndrome
Williams syndrome
Wilms tumor and radial bilateral aplasia
Wilms' tumor
Wilson disease
Wilson-Mikity syndrome
Wilson-Turner X-linked mental retardation syndrome
Windblown hand
Winkelman Bethge Pfeiffer syndrome
Winship Viljoen Leary syndrome
Winter Harding Hyde syndrome
Wisconsin syndrome
Wiskott Aldrich syndrome
Witkop syndrome
Wittwer syndrome
Wolf-Hirschhorn syndrome
Wolff-Parkinson-White syndrome
Wolffian tumor
Wolfram syndrome
Wolman disease
Woodhouse Sakati syndrome
Woods Black Norbury syndrome
Woolly hair hypotrichosis everted lower lip and outstanding ears
Woolly hair syndrome
Worster Drought syndrome
Wright Dyck syndrome
Wrinkly skin syndrome
WT limb blood syndrome
Wyburn Mason's syndrome
X chromosome monosomy Xp22 pter
X chromosome monosomy Xq28
X chromosome trisomy Xq
X-linked adrenal hypoplasia congenita
X-linked agammaglobulinemia
X-linked hypohidrotic ectodermal dysplasia
X-linked ichthyosis
X-linked mental retardation and macro-orchidism
X-linked mental retardation craniofacial abnormal microcephaly club
X-linked mental retardation De silva type
X-linked mental retardation Gustavson type
X-linked mental retardation type Martinez
X-linked mental retardation type Raynaud
X-linked mental retardation type Schutz
X-linked mental retardation type Wittwer
X-linked periventricular heterotopia
X-linked severe combined immunodeficiency
Xanthinuria type 1
Xanthinuria type 2
Xanthogranulomatous cholecystitis
Xanthogranulomatous sialadenitis
Xeroderma pigmentosum
Xeroderma pigmentosum type 7
Xeroderma pigmentosum type 1
Xeroderma pigmentosum type 2
Xeroderma pigmentosum type 3
Xeroderma pigmentosum type 5
Xeroderma pigmentosum type 6
Xeroderma pigmentosum type 9
Xeroderma pigmentosum variant type
Xeroderma talipes enamel defects
XFE progeroid syndrome
XK aprosencephaly
XY Female

Rare Diseases Y - Z

Y chromosome deletions
Y chromosome pericentric inversion
Yaws
Yellow fever
Yellow nail syndrome
Yemenite deaf-blind hypopigmentation syndrome
Yolk sac tumor
Yorifuji Okuno syndrome
Young Hughes syndrome
Young Simpson syndrome
Young syndrome
Yunis Varon syndrome
Yusho Disease
Zadik Barak Levin syndrome
ZAP-70 deficiency
Zazam Sheriff Phillips syndrome
Zechi Ceide syndrome
Zellweger syndrome
Zerres Rietschel Majewski syndrome
Zlotogora syndrome
Zollinger-Ellison syndrome
Zori Stalker Williams syndrome
Zunich neuroectodermal syndrome
Zuska's disease
Zygomycosis

Source: globalgenes.org
Source: https://rarediseases.info.nih.gov/