orphafolder

| 643 | Giant axonal neuropathy
| 183595 | Genetic renal tumor
| 634 | Netherton syndrome
| 140 | Campomelic dysplasia
| 183576 | Genetic branchial arch or oral-acral syndrome
| 2828 | Young-onset Parkinson disease
| 183580 | Genetic malformation syndrome with odontal and/or periodontal component
| 183583 | Genetic head and neck malformation
| 642 | Hereditary sensory and autonomic neuropathy type 4
| 183586 | Genetic glomerular disease
| 183557 | Genetic developmental defect of the eye
| 183570 | Genetic malformation syndrome with short stature
| 627 | Nance-Horan syndrome
| 638 | Neurofibromatosis-Noonan syndrome
| 183573 | Genetic overgrowth/obesity syndrome
| 326 | Congenital factor V deficiency
| 183554 | Genetic respiratory or mediastinal malformation
| 526 | Liddle syndrome
| 183548 | Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
| 650 | LCAT deficiency
| 427 | Familial hypoaldosteronism
| 183545 | Genetic digestive tract malformation
| 183542 | Genetic cranial malformation
| 215 | Congenital stationary night blindness
| 183539 | Genetic renal or urinary tract malformation
| 342 | Familial Mediterranean fever
| 183536 | Genetic congenital limb malformation
| 180 | Choroideremia
| 183533 | Genetic multiple congenital anomalies/dysmorphic syndrome
| 183530 | Rare genetic developmental defect during embryogenesis
| 754 | Androgen insensitivity syndrome
| 253 | Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
| 183527 | Genetic bone tumor
| 183524 | Rare genetic bone disease
| 327 | Congenital factor VII deficiency
| 183521 | Rare genetic movement disorder
| 183518 | Rare hereditary ataxia
| 183515 | Rare genetic medullar disease
| 373 | Simpson-Golabi-Behmel syndrome
| 183512 | Rare genetic epilepsy
| 183509 | Rare genetic headache
| 403 | Familial hyperaldosteronism type I
| 183503 | Genetic central nervous system and retinal vascular disease
| 183506 | Genetic central nervous system malformation
| 574 | Monosomy 21
| 183497 | Genetic neuromuscular disease
| 183500 | Genetic neurodegenerative disease
| 183490 | Genetic photodermatosis
| 183494 | Genetic immune deficiency with skin involvement
| 653 | Multiple endocrine neoplasia type 2
| 146 | Differentiated thyroid carcinoma
| 183484 | Genetic subcutaneous tissue disorder
| 183487 | Genetic skin tumor
| 1331 | Familial prostate cancer
| 183478 | Genetic skin vascular disorder
| 183481 | Genetic mixed dermis disorder
| 157 | Carnitine palmitoyltransferase II deficiency
| 183472 | Genetic dermis disorder
| 847 | Alpha-thalassemia-X-linked intellectual disability syndrome
| 183466 | Genetic hyperpigmentation of the skin
| 183469 | Genetic hypopigmentation of the skin
| 183460 | Genetic sebaceous gland anomaly
| 1446 | Ring chromosome 22 syndrome
| 183463 | Genetic pigmentation anomaly of the skin
| 183438 | Genetic erythrokeratoderma
| 183435 | Inherited ichthyosis
| 183444 | Genetic porokeratosis
| 2268 | ICF syndrome
| 183441 | Genetic acrokeratoderma
| 183450 | Genetic hair anomaly
| 183447 | Genetic epidermal appendage anomaly
| 475 | Joubert syndrome
| 183454 | Genetic nail anomaly
| 392 | Holt-Oram syndrome
| 182228 | Systemic autoimmune disease
| 182222 | Rare systemic disease
| 113 | Bazex-Dupré-Christol syndrome
| 86 | Familial abdominal aortic aneurysm
| 182231 | Rare rheumatologic disease
| 243 | 46,XX gonadal dysgenesis
| 182734 | Genetic urticaria
| 183426 | Genetic epidermal disorder
| 183422 | Polymalformative genetic syndrome with increased risk of developing cancer
| 182111 | Respiratory malformation
| 136 | CADASIL
| 182114 | Rare urogenital tumor
| 48 | Congenital bilateral absence of vas deferens
| 182117 | Non-syndromic urogenital tract malformation of female
| 182121 | Non-syndromic urogenital tract malformation of male
| 182124 | Non-syndromic urogenital tract malformation of male and female
| 182127 | Extragonadal germinoma
| 182130 | Tumor of endocrine glands
| 528 | Berardinelli-Seip congenital lipodystrophy
| 275 | Severe combined immunodeficiency due to DCLRE1C deficiency
| 182083 | Channelopathy with epilepsy
| 182086 | Acquired peripheral neuropathy
| 182090 | Pulmonary arterial hypertension
| 182095 | Interstitial lung disease
| 182098 | Pneumoconiosis
| 184 | Cherubism

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