orphafolder

| 163585 | Rare viral disease
| 429 | Hypochondroplasia
| 163588 | Rare parasitic disease
| 437 | Hypophosphatemic rickets
| 163637 | Rare disorder related with pregnancy, childbirth and puerperium
| 104 | Leber hereditary optic neuropathy
| 163631 | Bile acid synthesis defect with cholestasis and malabsorption
| 2182 | Hydrocephalus with stenosis of the aqueduct of Sylvius
| 163634 | Maffucci syndrome
| 163717 | Benign familial mesial temporal lobe epilepsy
| 163708 | Cryptogenic late-onset epileptic spasms
| 636 | Neurofibromatosis type 1
| 163703 | Febrile infection-related epilepsy syndrome
| 649 | Norrie disease
| 163727 | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
| 163721 | Rolandic epilepsy-speech dyspraxia syndrome
| 163684 | Leukoencephalopathy-dystonia-motor neuropathy syndrome
| 163681 | Cortical dysplasia-focal epilepsy syndrome
| 379 | Chronic granulomatous disease
| 16 | Blue cone monochromatism
| 163699 | Alveolar soft tissue sarcoma
| 644 | NARP syndrome
| 637 | Neurofibromatosis type 2
| 163696 | Action myoclonus-renal failure syndrome
| 181 | X-linked hypohidrotic ectodermal dysplasia
| 163693 | 2p21 microdeletion syndrome
| 163690 | Hypotonia-cystinuria syndrome
| 337 | Fibrodysplasia ossificans progressiva
| 3444 | Watson syndrome
| 377 | Gorlin syndrome
| 648 | Noonan syndrome
| 281 | Monosomy 5p
| 752 | 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
| 214 | Cystinuria
| 510 | Lesch-Nyhan syndrome
| 524 | Li-Fraumeni syndrome
| 699 | Pearson syndrome
| 640 | Hereditary neuropathy with liability to pressure palsies
| 60 | Alpha-1-antitrypsin deficiency
| 895 | Waardenburg syndrome type 2
| 896 | Waardenburg syndrome type 3
| 857 | Townes-Brocks syndrome
| 894 | Waardenburg syndrome type 1
| 682 | Hyperkalemic periodic paralysis
| 800 | Schwartz-Jampel syndrome
| 628 | Diastrophic dwarfism
| 673 | Malaria
| 681 | Hypokalemic periodic paralysis
| 126 | Blepharophimosis-epicanthus inversus-ptosis syndrome
| 107 | BOR syndrome
| 774 | Hereditary hemorrhagic telangiectasia
| 794 | Saethre-Chotzen syndrome
| 710 | Pfeiffer syndrome
| 2869 | Peutz-Jeghers syndrome
| 893 | WAGR syndrome
| 912 | Zellweger syndrome
| 50 | Aicardi syndrome
| 53 | Albers-Schönberg osteopetrosis
| 14 | Abetalipoproteinemia
| 52 | Alagille syndrome
| 167 | Chédiak-Higashi syndrome
| 195 | Cat-eye syndrome
| 207 | Crouzon disease
| 205 | Crigler-Najjar syndrome
| 160148 | Cap polyposis
| 201 | Cowden syndrome
| 192 | Coffin-Lowry syndrome
| 2442 | X-linked lymphoproliferative disease
| 169808 | Mild hemophilia A
| 169826 | Congenital vitamin K-dependent coagulation factors deficiency
| 169802 | Severe hemophilia A
| 169805 | Moderately severe hemophilia A
| 562 | McCune-Albright syndrome
| 565 | Menkes disease
| 2443 | Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
| 474 | Jeune syndrome
| 540 | Familial hemophagocytic lymphohistiocytosis
| 568 | Microphthalmia, Lenz type
| 564 | Meckel syndrome
| 289 | Ellis Van Creveld syndrome
| 258 | Congenital muscular dystrophy type 1A
| 1247 | Schistosomiasis
| 112 | Bartter syndrome
| 169443 | Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
| 1646 | Partial chromosome Y deletion
| 169464 | Primary CD59 deficiency
| 99 | Autosomal dominant cerebellar ataxia
| 116 | Beckwith-Wiedemann syndrome
| 87 | Apert syndrome
| 169618 | Secondary central precocious puberty
| 169615 | Idiopathic central precocious puberty
| 97 | Familial paroxysmal ataxia
| 169467 | Recurrent Neisseria infections due to factor D deficiency
| 313 | Lamellar ichthyosis
| 169799 | Mild hemophilia B
| 169796 | Moderately severe hemophilia B
| 169793 | Severe hemophilia B
| 171220 | Rectal duplication
| 1000 | Ocular albinism with late-onset sensorineural deafness
| 999 | Ermine phenotype

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