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🔬 Rare Diseases

Conditions affecting a small percentage of the population.

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324 conditions found

12p12.1 microdeletion syndrome

16q22 deletion syndrome

1p31p32 microdeletion syndrome

1q41q42 microdeletion syndrome

49,XXXYY syndrome

4q25 proximal deletion syndrome

6q16 microdeletion syndrome

8q24.3 microdeletion syndrome

Acquired hemophilia B

ICD-10: D68.318

Acquired partial lipodystrophy

Acute myeloid leukaemia with myelodysplasia-related features

Acute zonal occult outer retinopathy

ACys amyloidosis

Adenylosuccinate lyase deficiency

Adolescent-onset epilepsy syndrome

Alar cartilages hypoplasia-coloboma-telecanthus syndrome

Alexander disease type I

Alkaline ceramidase 3 deficiency

Alternating hemiplegia of childhood

Aniridia-cerebellar ataxia-intellectual disability syndrome

Aniridia-ptosis-intellectual disability-familial obesity syndrome

Anophthalmia/microphthalmia-esophageal atresia syndrome

Aprosencephaly/atelencephaly spectrum

Arterial tortuosity syndrome

Atypical hemolytic uremic syndrome

Autoimmune interstitial lung disease-arthritis syndrome

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

Autosomal dominant Charcot-Marie-Tooth disease type 2N

Autosomal dominant Charcot-Marie-Tooth disease type 2Y

Autosomal dominant multiple pterygium syndrome

Autosomal dominant spastic paraplegia type 29

Autosomal dominant spastic paraplegia type 9B

Autosomal recessive centronuclear myopathy

Autosomal recessive cerebellar ataxia due to STUB1 deficiency

Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal recessive metabolic cerebellar ataxia

Autosomal recessive spastic paraplegia type 59

Axenfeld-Rieger syndrome

B-lymphoblastic leukemia/lymphoma with hyperdiploidy

BAG3-related myofibrillar myopathy

Baller-Gerold syndrome

Bardet-Biedl syndrome

Basel-Vanagaite-Smirin-Yosef syndrome

Behavioral variant of frontotemporal dementia

Bilirubin encephalopathy

Bipartite talus

Body integrity dysphoria

Brachydactyly type C

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

Bullous impetigo

C3 glomerulonephritis

Cataract-nephropathy-encephalopathy syndrome

Central polydactyly

Cerebrooculonasal syndrome

Cerebrotendinous xanthomatosis

Charcot-Marie-Tooth disease type 2P

Charcot-Marie-Tooth disease type 4C

CHARGE syndrome

Choanal atresia, unilateral

Chronic intervillositis of unknown etiology

Chronic visceral acid sphingomyelinase deficiency

Classic Hodgkin lymphoma, nodular sclerosis type

Classic pilocytic astrocytoma

Cleft palate-lateral synechia syndrome

CNTNAP2-related developmental and epileptic encephalopathy

Colchicine poisoning

Coloboma of inferior eyelid

Combined immunodeficiency due to ZAP70 deficiency

Combined immunodeficiency with normal Ig and poor specific antibody response

Combined oxidative phosphorylation defect type 7

Common cystic lymphatic malformation

Complete hydatidiform mole

Congenital aortic valve dysplasia

Congenital communicating hydrocephalus

Congenital disorder of glycosylation with developmental anomaly

Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation

Congenital muscular dystrophy due to dystroglycanopathy

Congenital oculomotor nerve palsy

Congenital or early infantile CACH syndrome

Congenital primary lymphedema of Gordon

Congenital secondary polycythemia

Congenital vascular bone syndrome

Congenitally corrected transposition of the great arteries

Corneal dystrophy-perceptive deafness syndrome

Craniopharyngioma

Craniostenosis with strabismus

Cushing disease

Cushing syndrome due to cortisol-producing adrenocortical adenoma

Dedifferentiated liposarcoma

Developmental defect of the eye

Digestive tract malformation

Dincsoy-Salih-Patel syndrome

Discrete fixed membranous subaortic stenosis

Disorder of asparagine metabolism

Distal 17p13.1 microdeletion syndrome

Distal duplication 2q syndrome

Distal hereditary motor neuropathy type 1

Distal renal tubular acidosis

Distal spinal muscular atrophy type 3

DNAJB4-related distal myopathy

Duodenal atresia

Dwarfism-tall vertebrae syndrome

Dyssegmental dysplasia, Silverman-Handmaker type

Early-onset ataxia with dementia

Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature

Encephalopathy due to sulfite oxidase deficiency

Epidermolysis bullosa simplex due to BP230 deficiency

Erythropoietic porphyria

EVEN-plus syndrome

Extramammary Paget disease

Familial Alzheimer-like prion disease

Familial intrahepatic cholestasis

Familial pterygium of the conjunctiva

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

Familial thrombomodulin anomalies

Familial visceral myopathy

Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

Feingold syndrome type 2

Fish-eye disease

Frank-Ter Haar syndrome

Genetic digestive tract malformation

Genetic renal tumor

Genetic syndrome with limb reduction defects

Gestational trophoblastic disease

ICD-10: O01-O02

Glaucoma secondary to spherophakia/ectopia lentis and megalocornea

Graft versus host disease

Growth retardation-mild developmental delay-chronic hepatitis syndrome

Hallermann-Streiff syndrome

Heavy chain deposition disease

Heme oxygenase-1 deficiency

Hemifacial myohyperplasia

Hemoglobin C disease

Hereditary angioedema with normal C1Inh

Hereditary isolated aplastic anemia

Hereditary renal hypouricemia

Hereditary sensory and autonomic neuropathy with deafness and global delay

Hermansky-Pudlak syndrome type 8

Hirschsprung disease

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

Human infection by orthopoxvirus

Hypomyelination with atrophy of basal ganglia and cerebellum

Idiopathic pulmonary hemosiderosis

Immunodeficiency by defective expression of MHC class II

Infantile epileptic spasms syndrome

Infantile mercury poisoning

Infection-related hemolytic uremic syndrome

Inherited digestive cancer-predisposing syndrome

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

Isolated childhood apraxia of speech

Isolated hereditary congenital facial paralysis

Isolated sedoheptulokinase deficiency

Jejunal neuroendocrine tumor

ICD-10: C7A.098

Juvenile dermatomyositis

KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome

Klüver-Bucy syndrome

Late-onset distal myopathy, Markesbery-Griggs type

Lens position anomaly

Lethal infantile mitochondrial myopathy

Lewis-Sumner syndrome

Low oxygen affinity alpha chain hemoglobin disease

Low-grade neuroendocrine tumor of the corpus uteri

Lysosomal glycogen storage disease

Macrophage or histiocytic tumor

Macular coloboma-cleft palate-hallux valgus syndrome

Mal de débarquement

Malformation syndrome with odontal and/or periodontal component

Mandibuloacral dysplasia

Marburg hemorrhagic fever

Marginal zone lymphoma

Marshall-Smith syndrome

Maternal uniparental disomy of chromosome 4 syndrome

Medullar disease

Mesomelic dwarfism, Reinhardt-Pfeiffer type

Metabolic neurotransmission anomaly with epilepsy

Methylcobalamin deficiency type cblG

Mild hemophilia A

MIR140-related spondyloepiphyseal dysplasia

Mitochondrial oxidative phosphorylation disorder

Mixed phenotype acute leukemia

Monosomy 22 syndrome

Moore-Federman syndrome

Moyamoya disease with early-onset achalasia

Mucinous cystadenoma of childhood

Muenke syndrome

Multilocular cystic renal neoplasm of low malignant potential

Multiple congenital anomalies-hypotonia-seizures syndrome

Multiple endocrine neoplasia type 2B

Myoclonic dystonia 15

Neonatal brainstem dysfunction

Neonatal ichthyosis-sclerosing cholangitis syndrome

Neovascular glaucoma

Neuro-ophthalmological disease

Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect

Neurooculocardiogenitourinary syndrome

Non-immune hydrops fetalis

Non-specific autoimmune supratentorial encephalitis without characteristic antibodies

Non-syndromic H-type fistula

Non-syndromic limb reduction defect

Non-transplant-related bronchiolitis obliterans

OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly

OBSOLETE: Infantile striatothalamic degeneration

OBSOLETE: Neuroepithelioma

OBSOLETE: Rare sucking/swallowing disorder

OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome

Oculodental syndrome, Rutherfurd type

Okihiro syndrome due to a point mutation

Oromandibular-limb anomalies syndrome

Overgrowth syndrome with 2q37 translocation

Papillary intralymphatic angioendothelioma

Partial atrioventricular septal defect without ventricular hypoplasia

Partial deletion of chromosome 16 syndrome

Partial deletion of the long arm of chromosome 14 syndrome

Partial deletion of the short arm of chromosome 2 syndrome

Partial duplication of chromosome 17 syndrome

Partial duplication of the long arm of chromosome 10 syndrome

Pediatric arterial ischemic stroke

Pediatric hepatocellular carcinoma

Peripheral fast-flow vascular malformation

Peroxisomal acyl-CoA oxidase deficiency

Phosphoserine aminotransferase deficiency, infantile/juvenile form

Pituitary stalk interruption syndrome

Postaxial polydactyly-dental and vertebral anomalies syndrome

Precursor B-cell acute lymphoblastic leukemia

Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome

Primary bone and joint tuberculosis

Primary ciliary dyskinesia-retinitis pigmentosa syndrome

Primary intestinal lymphangiectasia

Primary lymphedema without systemic or visceral involvement

Progeria-short stature-pigmented nevi syndrome

Progeroid syndrome, Petty type

Progressive myoclonic epilepsy

Proteus-like syndrome

Pseudohypoaldosteronism type 2A

Pterin-4 alpha-carbinolamine dehydratase deficiency

Pulmonary arterial hypertension associated with schistosomiasis

Pulmonary blastoma

Punctate acrokeratoderma freckle-like pigmentation

Qualitative or quantitative defects of myotubularin

Rare benign ovarian tumor

Rare bone disease

Rare disease with glaucoma as a major feature

Rare disorder involving multiple structures of the eye

Rare disorder potentially indicated for liver transplant

ICD-10: ICD-10 code

Rare disorder with corneal involvement as a major feature

Rare genetic eyelid malposition disorder

Rare genetic non-progressive retinal vasculopathy

Rare hepatic and biliary tract tumor

Rare hypoaldosteronism

Rare infertility

Rare neoplastic disease

Rare non-progressive retinal vasculopathy

Rare optic nerve disorder

Rare progressive predominantly macular disorder

Renal tubular dysgenesis due to twin-twin transfusion

Sagliker syndrome

Sarcoma of the corpus uteri

Say-Barber-Miller syndrome

Secondary early-onset glaucoma of genetic origin

Selective intrauterine growth restriction

Self-limited neonatal-infantile epilepsy

Sepsis in premature infants

Seromucinous cystadenoma of childhood

Serotonin syndrome

Severe hemophilia B

Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

Slender bone dysplasia

Somatotropic adenoma

Spinal muscular atrophy with respiratory distress type 2

Spinocerebellar ataxia type 1

Spinocerebellar ataxia type 14

Spondyloepiphyseal dysplasia tarda, Kohn type

Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome

Spondylometaphyseal dysplasia, Golden type

Spondylometaphyseal dysplasia, Schmidt type

Squamous cell carcinoma of pancreas

Staphylococcal toxic-shock syndrome

Succinic acidemia

Superior limbic keratoconjunctivitis

Syndrome with combined immunodeficiency

Syndromic diaphragmatic or abdominal wall malformation

Syndromic low resistance capillary malformation

SYNGAP1-related developmental and epileptic encephalopathy

Systemic capillary leak syndrome

T-cell prolymphocytic leukemia

Takayasu arteritis

Tibial muscular dystrophy

Transverse vaginal septum

Trigonocephaly-short stature-developmental delay syndrome

Triphalangeal thumbs-brachyectrodactyly syndrome

Trisomy 5p syndrome

Trisomy 8p syndrome

Tropical spastic paraparesis

Unilateral hemispheric polymicrogyria

Variant of Guillain-Barré syndrome

Warty dyskeratoma

White platelet syndrome

X-linked Charcot-Marie-Tooth disease type 1

X-linked combined immunodeficiency due to SASH3 deficiency

X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome

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