orphafolder

| 1296 | Lambert syndrome
| 137631 | Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
| 1297 | Branchio-oculo-facial syndrome
| 137639 | Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
| 137577 | Neonatal hypoxic and ischemic brain injury
| 137583 | Vulvar intraepithelial neoplasia
| 1276 | Brachydactyly-arterial hypertension syndrome
| 1275 | Brachydactyly-elbow wrist dysplasia syndrome
| 137586 | Herpes simplex virus keratitis
| 1266 | Dermato-cardio-skeletal syndrome, Borrone type
| 1271 | Bowen syndrome
| 1270 | Bowen-Conradi syndrome
| 137605 | Legius syndrome
| 137593 | Infectious epithelial keratitis
| 137596 | Neurotrophic keratopathy
| 1278 | Brachydactyly-preaxial hallux varus syndrome
| 137599 | Stromal keratitis
| 137602 | Endotheliitis
| 1166 | Congenital unilateral hypoplasia of depressor anguli oris
| 137820 | Extrapelvic endometriosis
| 1168 | Ataxia-oculomotor apraxia type 1
| 1160 | Chylous ascites
| 137817 | Arachnoiditis
| 137814 | Macular amyloidosis
| 1174 | Cerebellar ataxia-ectodermal dysplasia syndrome
| 137839 | Lemierre syndrome
| 137834 | Frank-Ter Haar syndrome
| 137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome
| 1170 | Autosomal recessive cerebelloparenchymal disorder type 3
| 137862 | Martínez-Frías syndrome
| 1178 | Ataxia-tapetoretinal degeneration syndrome
| 1175 | X-linked progressive cerebellar ataxia
| 1180 | Ataxia-hypogonadism-choroidal dystrophy syndrome
| 1179 | Benign paroxysmal tonic upgaze of childhood with ataxia
| 1173 | Cerebellar ataxia-hypogonadism syndrome
| 137867 | Madras motor neuron disease
| 137681 | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
| 1133 | AREDYLD syndrome
| 137675 | Histiocytoid cardiomyopathy
| 1131 | X-linked mandibulofacial dysostosis
| 137678 | Czech dysplasia, metatarsal type
| 137698 | Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk
| 1145 | Infantile-onset X-linked spinal muscular atrophy
| 137754 | Neurological conditions associated with aminoacylase 1 deficiency
| 1144 | Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
| 137686 | Asherman syndrome
| 137776 | Lethal congenital contracture syndrome type 2
| 1150 | Arthrogryposis multiplex congenita-whistling face syndrome
| 1149 | Kuskokwim syndrome
| 1159 | Progressive pseudorheumatoid arthropathy of childhood
| 137807 | Primary cutaneous amyloidosis
| 137810 | Nodular cutaneous amyloidosis
| 137783 | Lethal congenital contracture syndrome type 3
| 1214 | Progressive hemifacial atrophy
| 1215 | Autosomal dominant optic atrophy plus syndrome
| 138041 | Pierre Robin syndrome associated with collagen disease
| 1216 | Autosomal dominant congenital benign spinal muscular atrophy
| 138047 | Pierre Robin syndrome associated with a chromosomal anomaly
| 138044 | Rare disease with Pierre Robin syndrome
| 1219 | Aurocephalosyndactyly
| 138055 | Pierre Robin syndrome associated with bone disease
| 1221 | Cheilitis glandularis
| 138050 | Pierre Robin syndrome associated with branchial archs anomalies
| 138059 | Teratogenic Pierre Robin syndrome
| 1225 | Baller-Gerold syndrome
| 138069 | Sucking/swallowing disorder not related with Pierre Robin syndrome
| 1226 | Bamforth-Lazarus syndrome
| 1227 | Bangstad syndrome
| 1184 | Ataxia-photosensitivity-short stature syndrome
| 1182 | Spastic ataxia with congenital miosis
| 137888 | Auriculocondylar syndrome
| 1186 | Infantile onset spinocerebellar ataxia
| 137893 | Male infertility due to large-headed multiflagellar polyploid spermatozoa
| 1185 | Spinocerebellar ataxia-dysmorphism syndrome
| 137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
| 1188 | Ataxia-deafness-intellectual disability syndrome
| 137902 | Isolated optic nerve hypoplasia/aplasia
| 137905 | Syndromic optic nerve hypoplasia
| 1187 | Lethal ataxia with deafness and optic atrophy
| 1190 | Atelosteogenesis type I
| 137908 | Hypotonia with lactic acidemia and hyperammonemia
| 137911 | Autism-facial port-wine stain syndrome
| 1193 | Atkin-Flaitz syndrome
| 137914 | Choanal atresia
| 137917 | Choanal atresia, unilateral
| 137920 | Choanal atresia, bilateral
| 1200 | Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
| 1198 | Colonic atresia
| 137926 | Primary laryngeal lymphangioma
| 137929 | Neonatal brainstem dysfunction
| 1203 | Duodenal atresia
| 1208 | Pulmonary atresia-intact ventricular septum syndrome
| 137932 | Congenital laryngeal palsy
| 137935 | Laryngotracheal angioma
| 1449 | Ring chromosome 7 syndrome
| 141242 | Paramedian nasal cleft
| 1453 | Cleidorhizomelic syndrome
| 141239 | Median cleft of the upper lip and maxilla
| 1440 | Ring chromosome 14 syndrome
| 141234 | Median facial cleft

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