희소병

■ 참조사이트

- https://globalgenes.org/

- http://www.checkorphan.org/diseases

- http://helpline.nih.go.kr/cdchelp/disease.gst?method=listView

[A]

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

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]

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]

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]

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]

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

[F]

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]

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

Gorham's disease

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 syndrome

Gurrieri syndrome

Guttate psoriasis

Gynandroblastoma

[H]

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 synostosis

Hunter Carpenter Macdonald syndrome

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

Hypoplasia of the tibia with polydactyly

Hypoplastic left heart syndrome

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]

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

[J]

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]

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]

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 AIDSrelated

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

[M]

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 type1

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

Mumps

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]

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 chronic familial

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

[O]

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

[P]

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

PROSTAGLANDIN-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

[Q]

Q fever

Qazi Markouizos syndrome

Quebec platelet disorder

Quinquaud's decalvans folliculitis

[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

[S]

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 associatio

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]

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

This list supplied by the RARE Project - Feb 2012

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

[U]

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

[V]

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

[W]

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]

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

[Y]

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

[Z]

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

[Number]

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