orphafolder

| 1393 | Cerebrocostomandibular syndrome
| 157823 | Klüver-Bucy syndrome
| 157826 | Congenital epulis
| 157808 | Congenital pseudoarthrosis of the limbs
| 157820 | Cold-induced sweating syndrome
| 1390 | Night blindness-skeletal anomalies-dysmorphism syndrome
| 1389 | Cortical blindness-intellectual disability-polydactyly syndrome
| 157798 | Hyperplastic polyposis syndrome
| 1388 | Catel-Manzke syndrome
| 157801 | Mesoaxial synostotic syndactyly with phalangeal reduction
| 1387 | Cataract-intellectual disability-hypogonadism syndrome
| 157791 | Epithelioid hemangioendothelioma
| 157794 | Hereditary mixed polyposis syndrome
| 157769 | Situs ambiguus
| 157788 | Hypospadias-hypertelorism-coloboma and deafness syndrome
| 157716 | Late infantile CACH syndrome
| 1381 | Cataract-intellectual disability-anal atresia-urinary defects syndrome
| 157719 | Juvenile or adult CACH syndrome
| 1380 | Cataract-nephropathy-encephalopathy syndrome
| 157713 | Congenital or early infantile CACH syndrome
| 156731 | Dyssegmental dysplasia, Rolland-Desbuquois type
| 1377 | Cataract-microcornea syndrome
| 157215 | Hereditary hypophosphatemic rickets with hypercalciuria
| 1325 | Camptodactyly-taurinuria syndrome
| 156159 | Isolated dystonia
| 1326 | Camptodactyly syndrome, Guadalajara type 2
| 156156 | Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy
| 156165 | Retinal ciliopathy
| 1327 | Camptodactyly syndrome, Guadalajara type 1
| 156162 | Nephropathy-associated ciliopathy
| 1328 | Camurati-Engelmann disease
| 156146 | Predominantly small-vessel vasculitis
| 1321 | Camptodactyly-fibrous tissue hyperplasia-skeletal dysplasia syndrome
| 156143 | Predominantly medium-vessel vasculitis
| 156152 | Anti-neutrophil cytoplasmic antibody-associated vasculitis
| 1323 | Camptodactyly-joint contractures-facial skeletal defects syndrome
| 156149 | Immune complex mediated vasculitis
| 1314 | Symmetrical thalamic calcifications
| 156005 | Primary early-onset glaucoma
| 1317 | CAMFAK syndrome
| 156140 | Predominantly large-vessel vasculitis
| 1318 | Campomelia, Cumming type
| 1319 | Camptobrachydactyly
| 155889 | Coloboma of inferior eyelid
| 1305 | Feingold syndrome
| 1307 | Distal limb deficiencies-micrognathia syndrome
| 155884 | Coloboma of superior eyelid
| 155899 | Mandibulofacial dysostosis
| 155896 | Otomandibular dysplasia
| 1313 | Infantile choroidocerebral calcification syndrome
| 156237 | Syndrome or malformation associated with head and neck malformations
| 1350 | Heart-hand syndrome type 2
| 156243 | Pinnae and external auditory canal anomaly
| 156246 | Nose and cavum anomaly
| 1355 | Congenital heart defect-round face-developmental delay syndrome
| 1352 | Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
| 156249 | Larynx anomaly
| 1342 | Heart-hand syndrome type 3
| 156212 | Hypoglossia/aglossia
| 156215 | Oromandibular-limb anomalies syndrome
| 156224 | Paralytic facial malformation
| 1345 | Cardiomyopathy-cataract-hip spine disease syndrome
| 156230 | Facial arteriovenous malformation
| 156180 | Retinal ciliopathy due to mutation in nephronophthisis gene
| 1338 | Heart defect-tongue hamartoma-polysyndactyly syndrome
| 156183 | Retinal ciliopathy due to mutation in Bardet-Biedl gene
| 156202 | Otomandibular dysplasia associated with monogenic syndromes
| 1340 | Cardiofaciocutaneous syndrome
| 156207 | Macroglossia
| 156168 | Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
| 2856 | Persistent Müllerian duct syndrome
| 156171 | Retinal ciliopathy due to mutation in the RPGR gene
| 156174 | Retinal ciliopathy due to mutation in the RPGRIP gene
| 1336 | Hyperkeratosis-hyperpigmentation syndrome
| 156177 | Retinal ciliopathy due to mutation in Usher gene
| 1335 | Pentalogy of Cantrell
| 1683 | Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome
| 1682 | Arterial dissection-lentiginosis syndrome
| 1678 | Dincsoy-Salih-Patel syndrome
| 1757 | Fibular dimelia-diplopodia syndrome
| 1756 | Caudal duplication
| 1767 | Familial progressive vestibulocochlear dysfunction
| 1765 | Dyschondrosteosis-nephritis syndrome
| 140162 | Inherited cancer-predisposing syndrome
| 1766 | Dysequilibrium syndrome
| 1777 | Temtamy syndrome
| 1780 | Thakker-Donnai syndrome
| 1772 | 45,X/46,XY mixed gonadal dysgenesis
| 1784 | Acrofrontofacionasal dysostosis
| 1782 | Dysosteosclerosis
| 1790 | Hypomandibular faciocranial dysostosis
| 1792 | Humerospinal dysostosis
| 1786 | Acrofacial dysostosis, Catania type
| 1788 | Acrofacial dysostosis, Rodríguez type
| 859 | Transcobalamin deficiency
| 139441 | Hypomyelination with atrophy of basal ganglia and cerebellum
| 3196 | Steroid dehydrogenase deficiency-dental anomalies syndrome
| 139444 | Leukoencephalopathy with bilateral anterior temporal lobe cysts
| 139447 | Progressive cavitating leukoencephalopathy
| 1573 | Hypotrichosis with juvenile macular degeneration

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