orphafolder

| 139039 | Orofacial clefting syndrome
| 990 | Agnathia-holoprosencephaly-situs inversus syndrome
| 989 | Hypoglossia-hypodactyly syndrome
| 139042 | Malformation syndrome with odontal and/or periodontal component
| 994 | Fetal akinesia deformation sequence
| 51 | Aicardi-Goutières syndrome
| 981 | Internal carotid agenesis
| 139021 | Malformation syndrome with short stature
| 139024 | Overgrowth/obesity syndrome
| 978 | ADULT syndrome
| 977 | Adrenomyodystrophy
| 139033 | Progeroid syndrome
| 988 | Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
| 139036 | Branchial arch or oral-acral syndrome
| 139027 | Malformation syndrome with skin/mucosae involvement
| 983 | Testicular regression syndrome
| 139030 | Rare developmental defect with connective tissue involvement
| 970 | Hereditary sensory and autonomic neuropathy type 2
| 971 | Acrorenal syndrome
| 40 | Acromesomelic dysplasia, Maroteaux type
| 969 | Acromicric dysplasia
| 139012 | Rare bone development disorder
| 974 | Adams-Oliver syndrome
| 139009 | Developmental anomaly of metabolic origin
| 972 | Hereditary continuous muscle fiber activity
| 973 | Congenital absence/hypoplasia of fingers excluding thumb, unilateral
| 964 | Acromegaly-cutis verticis gyrata-corneal leukoma syndrome
| 959 | Acro-renal-ocular syndrome
| 968 | Acromesomelic dysplasia, Hunter-Thompson type
| 965 | Acromegaloid facial appearance syndrome
| 966 | Hypertrichosis-acromegaloid facial appearance syndrome
| 139411 | Carney triad
| 139414 | Congenital panfollicular nevus
| 1028 | Ameloonychohypohidrotic syndrome
| 1031 | Enamel-renal syndrome
| 139417 | Acute transverse myelitis
| 139420 | Secondary acute transverse myelitis
| 139423 | Idiopathic acute transverse myelitis
| 139426 | Perioral myoclonia with absences
| 139431 | Jeavons syndrome
| 1035 | Beta-mercaptolactate cysteine disulfiduria
| 139436 | Multicentric reticulohistiocytosis
| 1021 | Amaurosis-hypertrichosis syndrome
| 64 | Alström syndrome
| 1023 | Congenital generalized hypertrichosis, Ambras type
| 139390 | Isolated craniosynostosis
| 139393 | Syndromic craniosynostosis
| 139396 | X-linked cerebral adrenoleukodystrophy
| 139399 | Adrenomyeloneuropathy
| 139402 | Drug rash with eosinophilia and systemic symptoms
| 1027 | Autosomal recessive amelia
| 139406 | Encephalopathy due to prosaposin deficiency
| 1008 | Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
| 701 | Alopecia universalis
| 1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia
| 1011 | Alopecia-hypogonadism-extrapyramidal syndrome
| 1014 | Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
| 1001 | 2q37 microdeletion syndrome
| 665 | Albright hereditary osteodystrophy
| 59 | Allan-Herndon-Dudley syndrome
| 1003 | Scalp defects-postaxial polydactyly syndrome
| 1005 | Alopecia-contractures-dwarfism-intellectual disability syndrome
| 1253 | Ascher syndrome
| 1251 | Blepharofacioskeletal syndrome
| 1252 | Blepharonasofacial malformation syndrome
| 1248 | Maxillonasal dysplasia
| 127 | Borjeson-Forssman-Lehmann syndrome
| 1264 | Tricho-retino-dento-digital syndrome
| 1262 | Böök syndrome
| 1263 | Boomerang dysplasia
| 1259 | Blepharoptosis-myopia-ectopia lentis syndrome
| 1261 | Bonnemann-Meinecke-Reich syndrome
| 1235 | Ectodermal dysplasia-absent dermatoglyphs syndrome
| 1234 | Bartsocas-Papas syndrome
| 1231 | Barber-Say syndrome
| 1229 | Congenital intrauterine infection-like syndrome
| 109 | Bannayan-Riley-Ruvalcaba syndrome
| 1228 | Banki syndrome
| 1241 | Bencze syndrome
| 1240 | Metaphyseal acroscyphodysplasia
| 1237 | Beemer-Ertbruggen syndrome
| 114 | Auriculoosteodysplasia
| 115 | Congenital contractural arachnodactyly
| 1236 | Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
| 137622 | Intractable diarrhea-choanal atresia-eye anomalies syndrome
| 137617 | Nephrogenic systemic fibrosis
| 1292 | Brachymorphism-onychodysplasia-dysphalangism syndrome
| 1293 | Brachyolmia
| 137628 | Cardiac anomalies-heterotaxy syndrome
| 137625 | Glycogen storage disease due to muscle and heart glycogen synthase deficiency
| 137608 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
| 137658 | Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
| 1299 | Branchioskeletogenital syndrome
| 137653 | Microcephaly-digital anomalies-intellectual disability syndrome
| 137672 | Pellucid marginal degeneration
| 1300 | Autosomal dominant popliteal pterygium syndrome
| 1301 | Bronchiectasis-oligospermia syndrome
| 137667 | Capillary malformation-arteriovenous malformation
| 137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome
| 1295 | Brachytelephalangy-dysmorphism-Kallmann syndrome

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