|
1p36 deletion syndrome
|
(Orphanet:1606)
|
|
22q11.2 deletion syndrome
|
(Orphanet:567)
|
|
3C syndrome
|
(Orphanet:7)
|
|
ALG1-CDG
|
(Orphanet:79327)
|
|
ATAXIA-TELANGIECTASIA WITH GENERALIZED SKIN PIGMENTATION AND EARLYDEATH
|
(OMIM:208910)
|
|
Aase-Smith syndrome
|
(Orphanet:916)
|
|
Achondrogenesis
|
(Orphanet:932)
|
|
Achondroplasia
|
(Orphanet:15)
|
|
Acro-cardio-facial syndrome
|
(Orphanet:2008)
|
|
Acromesomelic dysplasia, Grebe type
|
(Orphanet:2098)
|
|
Acyl-CoA dehydrogenase 9 deficiency
|
(Orphanet:99901)
|
|
Adenylosuccinate lyase deficiency
|
(Orphanet:46)
|
|
Adult intestinal botulism
|
(Orphanet:178487)
|
|
Alexander disease
|
(Orphanet:58)
|
|
Alpha-N-acetylgalactosaminidase deficiency
|
(Orphanet:3137)
|
|
Alpha-N-acetylgalactosaminidase deficiency type 1
|
(Orphanet:79279)
|
|
Alpha-thalassemia - X-linked intellectual deficit syndrome
|
(Orphanet:847)
|
|
Alveolar echinococcosis
|
(Orphanet:284)
|
|
Amish lethal microcephaly
|
(Orphanet:99742)
|
|
Antecubital pterygium syndrome
|
(Orphanet:2987)
|
|
Arterial calcification, generalized, of infancy, 1
|
(OMIM:208000)
|
|
Arterial tortuosity syndrome
|
(Orphanet:3342)
|
|
Arthrogryposis - renal dysfunction - cholestasis
|
(Orphanet:2697)
|
|
Atypical Rett syndrome
|
(Orphanet:3095)
|
|
Atypical teratoid tumor
|
(Orphanet:99966)
|
|
Autosomal agammaglobulinemia
|
(Orphanet:33110)
|
|
Autosomal recessive Robinow syndrome
|
(Orphanet:1507)
|
|
Autosomal recessive cutis laxa type 1
|
(Orphanet:90349)
|
|
Autosomal recessive spondylocostal dysostosis
|
(Orphanet:2311)
|
|
BRESEK syndrome
|
(Orphanet:85284)
|
|
Babesiosis
|
(Orphanet:108)
|
|
Bannayan-Riley-Ruvalcaba syndrome
|
(Orphanet:109)
|
|
Bartsocas-Papas syndrome
|
(Orphanet:1234)
|
|
Behçet disease
|
(Orphanet:117)
|
|
Bohring-Opitz syndrome
|
(Orphanet:97297)
|
|
Botulism
|
(Orphanet:1267)
|
|
Bowen-Conradi syndrome
|
(Orphanet:1270)
|
|
Braddock syndrome
|
(Orphanet:52047)
|
|
C syndrome
|
(Orphanet:1308)
|
|
CHARGE syndrome
|
(Orphanet:138)
|
|
CHOLESTEROL PNEUMONIA
|
(OMIM:215030)
|
|
COFS syndrome
|
(Orphanet:1466)
|
|
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
|
(OMIM:614576)
|
|
CONVULSIVE DISORDER, FAMILIAL, WITH PRENATAL OR EARLY ONSET
|
(OMIM:217200)
|
|
Campomelia, Cumming type
|
(Orphanet:1318)
|
|
Canavan disease
|
(Orphanet:141)
|
|
Carnitine palmitoyl transferase II deficiency
|
(Orphanet:157)
|
|
Carnitine palmitoyl transferase II deficiency, severe infantile form
|
(Orphanet:228305)
|
|
Central nervous system calcification - deafness - tubular acidosis - anemia
|
(Orphanet:3240)
|
|
Cerebro-costo-mandibular syndrome
|
(Orphanet:1393)
|
|
Cholera
|
(Orphanet:173)
|
|
Christianson syndrome
|
(Orphanet:85278)
|
|
Chédiak-Higashi syndrome
|
(Orphanet:167)
|
|
Cleft lip/palate - intestinal malrotation - cardiopathy
|
(Orphanet:2001)
|
|
Cockayne syndrome
|
(Orphanet:191)
|
|
Combined oxidative phosphorylation defect type 11
|
(Orphanet:324535)
|
|
Combined oxidative phosphorylation defect type 14
|
(Orphanet:319519)
|
|
Combined oxidative phosphorylation defect type 4
|
(Orphanet:254925)
|
|
Combined oxidative phosphorylation defect type 8
|
(Orphanet:319504)
|
|
Combined oxidative phosphorylation defect type 9
|
(Orphanet:319509)
|
|
Congenital bile acid synthesis defect type 1
|
(Orphanet:79301)
|
|
Congenital bile acid synthesis defect type 2
|
(Orphanet:79303)
|
|
Congenital brain dysgenesis due to glutamine synthetase deficiency
|
(Orphanet:71278)
|
|
Congenital lethal erythroderma
|
(Orphanet:1954)
|
|
Congenital lethal myopathy, Compton-North type
|
(Orphanet:210163)
|
|
Congenital muscular dystrophy due to LMNA mutation
|
(Orphanet:157973)
|
|
Congenital muscular dystrophy with intellectual disability and severe epilepsy
|
(Orphanet:329178)
|
|
Congenital neuronal ceroid lipofuscinosis
|
(Orphanet:168486)
|
|
Congenital pulmonary lymphangiectasia
|
(Orphanet:2414)
|
|
Craniorachischisis
|
(Orphanet:63260)
|
|
Crimean-Congo hemorrhagic fever
|
(Orphanet:99827)
|
|
Cronkhite-Canada syndrome
|
(Orphanet:2930)
|
|
Cutaneous photosensitivity - lethal colitis
|
(Orphanet:2881)
|
|
Cutis laxa-Marfanoid syndrome
|
(Orphanet:171719)
|
|
De Barsy syndrome
|
(Orphanet:2962)
|
|
Dengue fever
|
(Orphanet:99828)
|
|
Desmoid tumor
|
(Orphanet:873)
|
|
EDINBURGH MALFORMATION SYNDROME
|
(OMIM:129850)
|
|
ETHANOLAMINOSIS
|
(OMIM:227150)
|
|
Ebola hemorrhagic fever
|
(Orphanet:319218)
|
|
Encephalopathy due to prosaposin deficiency
|
(Orphanet:139406)
|
|
Encephalopathy due to sulfite oxidase deficiency
|
(Orphanet:833)
|
|
Epidermolysis bullosa simplex with pyloric atresia
|
(Orphanet:158684)
|
|
Epidermolysis bullosa simplex, Dowling-Meara type
|
(Orphanet:79396)
|
|
Erdheim-Chester disease
|
(Orphanet:35687)
|
|
Familial cutaneous collagenoma
|
(Orphanet:53296)
|
|
Familial thrombocytosis
|
(Orphanet:71493)
|
|
Farber lipogranulomatosis
|
(Orphanet:333)
|
|
Fatal infantile cytochrome C oxidase deficiency
|
(Orphanet:1561)
|
|
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3
|
(Orphanet:168566)
|
|
Felty syndrome
|
(Orphanet:47612)
|
|
Fetal Gaucher disease
|
(Orphanet:85212)
|
|
Fetal akinesia-cerebral and retinal hemorrhage syndrome
|
(Orphanet:363409)
|
|
Fetal parvovirus syndrome
|
(Orphanet:295)
|
|
Focal dermal hypoplasia
|
(Orphanet:2092)
|
|
Fraser syndrome
|
(Orphanet:2052)
|
|
GM1 gangliosidosis
|
(Orphanet:354)
|
|
GRACILE syndrome
|
(Orphanet:53693)
|
|
Gamma heavy-chain disease
|
(Orphanet:100026)
|
|
Gaucher disease
|
(Orphanet:355)
|
|
Gaucher disease type 2
|
(Orphanet:77260)
|
|
Geleophysic dysplasia
|
(Orphanet:2623)
|
|
Glycine encephalopathy
|
(Orphanet:407)
|
|
Goldblatt syndrome
|
(Orphanet:166272)
|
|
HEC syndrome
|
(Orphanet:2119)
|
|
HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED
|
(OMIM:241800)
|
|
Haddad syndrome
|
(Orphanet:99803)
|
|
Hallermann-Streiff syndrome
|
(Orphanet:2108)
|
|
Hamel cerebro-palato-cardiac syndrome
|
(Orphanet:93946)
|
|
Harlequin ichthyosis
|
(Orphanet:457)
|
|
Heart defects - limb shortening
|
(Orphanet:1354)
|
|
Hemorrhagic fever - renal syndrome
|
(Orphanet:340)
|
|
Hennekam syndrome
|
(Orphanet:2136)
|
|
Hennekam-Beemer syndrome
|
(Orphanet:2135)
|
|
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
|
(Orphanet:100006)
|
|
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
|
(Orphanet:324703)
|
|
Hereditary hyperekplexia
|
(Orphanet:3197)
|
|
Hughes-Stovin syndrome
|
(Orphanet:228116)
|
|
Hurler syndrome
|
(Orphanet:93473)
|
|
Hutchinson-Gilford progeria syndrome
|
(Orphanet:740)
|
|
Hydatidosis
|
(Orphanet:400)
|
|
Hyperkalemic periodic paralysis
|
(Orphanet:682)
|
|
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
|
(Orphanet:289290)
|
|
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
|
(Orphanet:363694)
|
|
Hypoalphalipoproteinemia
|
(Orphanet:31153)
|
|
Hypoglossia - hypodactyly
|
(Orphanet:989)
|
|
Hypohidrotic ectodermal dysplasia
|
(Orphanet:238468)
|
|
Hypomandibular faciocranial dysostosis
|
(Orphanet:1790)
|
|
Hypotonia - failure to thrive - microcephaly
|
(Orphanet:79507)
|
|
Hypotonia with lactic acidemia and hyperammonemia
|
(Orphanet:137908)
|
|
Iatrogenic botulism
|
(Orphanet:254509)
|
|
Ichthyosis follicularis - alopecia - photophobia
|
(Orphanet:2273)
|
|
Idiopathic acute eosinophilic pneumonia
|
(Orphanet:724)
|
|
Infantile hypophosphatasia
|
(Orphanet:247651)
|
|
Infantile myofibromatosis
|
(Orphanet:2591)
|
|
Inhalational botulism
|
(Orphanet:254504)
|
|
Intellectual deficit - hypoplastic corpus callosum - preauricular tag
|
(Orphanet:1495)
|
|
Intellectual deficit, X-linked, Pai type
|
(Orphanet:85322)
|
|
Intestinal botulism
|
(Orphanet:178481)
|
|
Isolated agammaglobulinemia
|
(Orphanet:229717)
|
|
Isolated polycystic liver disease
|
(Orphanet:2924)
|
|
Isolated spina bifida
|
(Orphanet:823)
|
|
Isolated sulfite oxidase deficiency
|
(Orphanet:99731)
|
|
Jacobsen syndrome
|
(Orphanet:2308)
|
|
Jeune syndrome
|
(Orphanet:474)
|
|
Johanson-Blizzard syndrome
|
(Orphanet:2315)
|
|
Junctional epidermolysis bullosa
|
(Orphanet:305)
|
|
Junctional epidermolysis bullosa - pyloric atresia
|
(Orphanet:79403)
|
|
Junctional epidermolysis bullosa, Herlitz type
|
(Orphanet:79404)
|
|
Juvenile hyaline fibromatosis
|
(Orphanet:2028)
|
|
Kleefstra syndrome
|
(Orphanet:261494)
|
|
LOC syndrome
|
(Orphanet:2407)
|
|
Lassa fever
|
(Orphanet:99824)
|
|
Legionellosis
|
(Orphanet:549)
|
|
Leprechaunism
|
(Orphanet:508)
|
|
Lethal acantholytic epidermolysis bullosa
|
(Orphanet:158687)
|
|
Lethal ataxia with deafness and optic atrophy
|
(Orphanet:1187)
|
|
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
|
(Orphanet:330050)
|
|
Lethal infantile mitochondrial myopathy
|
(Orphanet:254857)
|
|
Lethal multiple pterygium syndrome
|
(Orphanet:33108)
|
|
Lethal omphalocele-cleft palate syndrome
|
(Orphanet:2736)
|
|
Lethal restrictive dermopathy
|
(Orphanet:1662)
|
|
Lissencephaly type 1 due to doublecortin gene mutation
|
(Orphanet:2148)
|
|
Locked-in syndrome
|
(Orphanet:2406)
|
|
Long chain acyl-CoA dehydrogenase deficiency
|
(Orphanet:99900)
|
|
Lowry-MacLean syndrome
|
(Orphanet:2409)
|
|
Lujo hemorrhagic fever
|
(Orphanet:319213)
|
|
Lung agenesis - heart defect - thumb anomalies
|
(Orphanet:1120)
|
|
Lysosomal acid lipase deficiency
|
(Orphanet:275761)
|
|
MEHMO syndrome
|
(Orphanet:85282)
|
|
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2
|
(OMIM:614299)
|
|
Malignant atrophic papulosis
|
(Orphanet:679)
|
|
Mandibuloacral dysplasia
|
(Orphanet:2457)
|
|
Marburg hemorrhagic fever
|
(Orphanet:99826)
|
|
Marden-Walker syndrome
|
(Orphanet:2461)
|
|
Marshall-Smith syndrome
|
(Orphanet:561)
|
|
Mast cell sarcoma
|
(Orphanet:66661)
|
|
Meacham syndrome
|
(Orphanet:3097)
|
|
Megacystis-microcolon-intestinal hypoperistalsis syndrome
|
(Orphanet:2241)
|
|
Microcephaly - cardiac defect - lung malsegmentation
|
(Orphanet:2516)
|
|
Microcephaly-albinism-digital anomalies
|
(Orphanet:2513)
|
|
Microgastria - limb reduction defect
|
(Orphanet:2538)
|
|
Microlissencephaly - micromelia
|
(Orphanet:50810)
|
|
Microphthalmia with linear skin defects syndrome
|
(Orphanet:2556)
|
|
Microvillous inclusion disease
|
(Orphanet:2290)
|
|
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
|
(Orphanet:279934)
|
|
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
|
(Orphanet:1194)
|
|
Moebius syndrome
|
(Orphanet:570)
|
|
Mosaic variegated aneuploidy syndrome
|
(Orphanet:1052)
|
|
Mucopolysaccharidosis type 3
|
(Orphanet:581)
|
|
Mullerian derivatives - lymphangiectasia - polydactyly
|
(Orphanet:1655)
|
|
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
|
(Orphanet:300496)
|
|
Multiple endocrine neoplasia type 2
|
(Orphanet:653)
|
|
Multiple sulfatase deficiency
|
(Orphanet:585)
|
|
Nasu-Hakola disease
|
(Orphanet:2770)
|
|
Neonatal hemochromatosis
|
(Orphanet:446)
|
|
Neurocutaneous melanocytosis
|
(Orphanet:2481)
|
|
Neuroectodermal melanolysosomal disease
|
(Orphanet:33445)
|
|
Non-polyposis Turcot syndrome
|
(Orphanet:99817)
|
|
Norrie disease
|
(Orphanet:649)
|
|
OSTEOGENESIS IMPERFECTA, TYPE VII
|
(OMIM:610682)
|
|
OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY
|
(OMIM:600329)
|
|
Otopalatodigital syndrome type 2
|
(Orphanet:90652)
|
|
PAGOD syndrome
|
(Orphanet:991)
|
|
PEHO syndrome
|
(Orphanet:2836)
|
|
PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
|
(OMIM:614882)
|
|
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
|
(OMIM:614862)
|
|
PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
|
(OMIM:614872)
|
|
PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)
|
(OMIM:614876)
|
|
Parana hard-skin syndrome
|
(Orphanet:2812)
|
|
Pelizaeus-Merzbacher disease
|
(Orphanet:702)
|
|
Pelizaeus-Merzbacher-like disease
|
(Orphanet:280270)
|
|
Pellagra-like skin rash-neurological manifestations
|
(Orphanet:2837)
|
|
Perinatal lethal hypophosphatasia
|
(Orphanet:247623)
|
|
Peroxisomal acyl-CoA oxidase deficiency
|
(Orphanet:2971)
|
|
Perry syndrome
|
(Orphanet:178509)
|
|
Peters-plus syndrome
|
(Orphanet:709)
|
|
Pfeiffer syndrome type 2
|
(Orphanet:93259)
|
|
Pfeiffer syndrome type 3
|
(Orphanet:93260)
|
|
Pituitary stalk interruption syndrome
|
(Orphanet:95496)
|
|
Pleomorphic liposarcoma
|
(Orphanet:99969)
|
|
Polysyndactyly - cardiac malformation
|
(Orphanet:2934)
|
|
Pontocerebellar hypoplasia type 4
|
(Orphanet:166063)
|
|
Pontocerebellar hypoplasia type 6
|
(Orphanet:166073)
|
|
Pontocerebellar hypoplasia, type 9
|
(OMIM:615809)
|
|
Primary effusion lymphoma
|
(Orphanet:48686)
|
|
Primary peritoneal carcinoma
|
(Orphanet:168829)
|
|
Prominent glabella - microcephaly - hypogenitalism
|
(Orphanet:2083)
|
|
Pseudomyxoma peritonei
|
(Orphanet:26790)
|
|
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
|
(Orphanet:88618)
|
|
Pyomyositis
|
(Orphanet:764)
|
|
Pyruvate dehydrogenase E1-alpha deficiency
|
(Orphanet:79243)
|
|
Pyruvate dehydrogenase E1-beta deficiency
|
(Orphanet:255138)
|
|
Pyruvate dehydrogenase E3-binding protein deficiency
|
(Orphanet:255182)
|
|
Pyruvate dehydrogenase deficiency
|
(Orphanet:765)
|
|
Pyruvate dehydrogenase phosphatase deficiency
|
(Orphanet:79246)
|
|
Relapsing polychondritis
|
(Orphanet:728)
|
|
Reticular dysgenesis
|
(Orphanet:33355)
|
|
Rett syndrome
|
(Orphanet:778)
|
|
Rhabdoid tumor
|
(Orphanet:69077)
|
|
Rift valley fever
|
(Orphanet:319251)
|
|
Roberts syndrome
|
(Orphanet:3103)
|
|
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
|
(Orphanet:353281)
|
|
Rudiger syndrome
|
(Orphanet:3118)
|
|
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL
|
(OMIM:602613)
|
|
Saethre-Chotzen syndrome
|
(Orphanet:794)
|
|
Schinzel-Giedion syndrome
|
(Orphanet:798)
|
|
Schwartz-Jampel syndrome
|
(Orphanet:800)
|
|
Scrub typhus
|
(Orphanet:83317)
|
|
Severe Canavan disease
|
(Orphanet:314911)
|
|
Short rib-polydactyly syndrome, Verma-Naumoff type
|
(Orphanet:93271)
|
|
Simpson-Golabi-Behmel syndrome
|
(Orphanet:373)
|
|
Spondylocostal dysostosis - anal and genitourinary malformations
|
(Orphanet:94095)
|
|
Spondyloepimetaphyseal dysplasia with joint laxity
|
(Orphanet:93359)
|
|
Spondylometaphyseal dysplasia, Sedaghatian type
|
(Orphanet:93317)
|
|
Stüve-Wiedemann syndrome
|
(Orphanet:3206)
|
|
Sudden infant death - dysgenesis of the testes
|
(Orphanet:168593)
|
|
Sézary syndrome
|
(Orphanet:3162)
|
|
Thomas syndrome
|
(Orphanet:3316)
|
|
Thrombocytopenia - absent radius
|
(Orphanet:3320)
|
|
Toxin-mediated infectious botulism
|
(Orphanet:230800)
|
|
Tracheobronchomegaly
|
(Orphanet:3347)
|
|
Vici syndrome
|
(Orphanet:1493)
|
|
Viral hemorrhagic fever
|
(Orphanet:341)
|
|
Vitamin B12-unresponsive methylmalonic acidemia
|
(Orphanet:27)
|
|
Walker-Warburg syndrome
|
(Orphanet:899)
|
|
Wiedemann-Rautenstrauch syndrome
|
(Orphanet:3455)
|
|
Wiskott-Aldrich syndrome
|
(Orphanet:906)
|
|
X-linked agammaglobulinemia
|
(Orphanet:47)
|
|
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
|
(Orphanet:163966)
|
|
X-linked lissencephaly with abnormal genitalia
|
(Orphanet:452)
|
|
X-linked spinocerebellar ataxia type 3
|
(Orphanet:85297)
|
|
Yellow fever
|
(Orphanet:99829)
|
|
Zellweger syndrome
|
(Orphanet:912)
|
|
Zellweger-like syndrome without peroxisomal anomalies
|
(Orphanet:50812)
|