orphafolder

| 171430 | Severe congenital nemaline myopathy
| 171433 | Intermediate nemaline myopathy
| 171436 | Typical nemaline myopathy
| 171439 | Childhood-onset nemaline myopathy
| 55 | Oculocutaneous albinism
| 171442 | Adult-onset nemaline myopathy
| 171445 | Muscle filaminopathy
| 171607 | X-linked spastic paraplegia type 34
| 2771 | Bruck syndrome
| 171612 | Autosomal dominant spastic paraplegia type 37
| 171617 | Autosomal dominant spastic paraplegia type 38
| 1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss
| 171622 | Autosomal recessive spastic paraplegia type 32
| 171629 | Autosomal recessive spastic paraplegia type 35
| 861 | Treacher-Collins syndrome
| 308 | Unverricht-Lundborg disease
| 199 | Cornelia de Lange syndrome
| 171201 | High anorectal malformation
| 2162 | Holoprosencephaly
| 930 | Idiopathic achalasia
| 171215 | Low anorectal malformation
| 998 | Albinism-deafness syndrome
| 171208 | Intermediate anorectal malformation
| 1727 | 22q11.2 microduplication syndrome
| 169079 | Cernunnos-XLF deficiency
| 1716 | Distal trisomy 18q
| 1715 | Trisomy 18p
| 3380 | Trisomy 18
| 168984 | CLAPO syndrome
| 1707 | Distal trisomy 15q
| 168999 | Malignant melanoma of the mucosa
| 3378 | Trisomy 13
| 168972 | Kahrizi syndrome
| 169110 | Immunoglobulin heavy chain deficiency
| 169100 | Immunodeficiency due to CD25 deficiency
| 169105 | Good syndrome
| 169090 | Combined immunodeficiency due to CRAC channel dysfunction
| 236 | Trisomy 9p
| 169095 | Alymphoid cystic thymic dysgenesis
| 169082 | Combined immunodeficiency due to CD3gamma deficiency
| 169085 | Susceptibility to respiratory infections associated with CD8alpha chain mutation
| 168829 | Primary peritoneal carcinoma
| 168816 | Peritoneal cystic mesothelioma
| 753 | 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
| 868 | Triose phosphate-isomerase deficiency
| 168811 | Malignant peritoneal mesothelioma
| 168807 | Primary malignant peritoneal tumor
| 168803 | Primary peritoneal tumor
| 218 | Darier disease
| 168796 | Heart-hand syndrome, Slovenian type
| 1465 | Coffin-Siris syndrome
| 168782 | Childhood disintegrative disorder
| 1642 | Distal monosomy 9p
| 168966 | Composite lymphoma
| 168960 | Refractory anemia with excess blasts in transformation
| 8 | 47,XYY syndrome
| 1636 | Distal monosomy 7q36
| 168956 | Hypereosinophilic syndrome
| 168953 | Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
| 168950 | Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
| 1600 | Monosomy 18q
| 168947 | Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
| 168943 | Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1
| 1598 | Monosomy 18p
| 168940 | Chronic eosinophilic leukemia
| 2773 | Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
| 2772 | Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
| 2609 | Isolated complex I deficiency
| 169361 | Immune dysregulation disease with immunodeficiency
| 626 | Large congenital melanocytic nevus
| 773 | Refsum disease
| 11 | Pentasomy X
| 169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
| 370 | Glycogen storage disease due to phosphorylase kinase deficiency
| 169150 | Immunodeficiency due to a late component of complement deficiency
| 169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
| 385 | Neurodegeneration with brain iron accumulation
| 169157 | T-B+ severe combined immunodeficiency due to CD45 deficiency
| 169139 | Transient hypogammaglobulinemia of infancy
| 1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type
| 169147 | Immunodeficiency due to a classical component pathway complement deficiency
| 169142 | Recurrent infection due to specific granule deficiency
| 352 | Galactosemia
| 596 | X-linked centronuclear myopathy
| 169349 | Immuno-osseous dysplasia
| 169346 | DNA repair defect other than combined T-cell and B-cell immunodeficiencies
| 169355 | Immunodeficiency syndrome with autoimmunity
| 610 | Bethlem myopathy
| 169186 | Autosomal recessive centronuclear myopathy
| 464 | Incontinentia pigmenti
| 3307 | Tetrasomy 18p
| 169163 | Familial scaphocephaly syndrome
| 169189 | Autosomal dominant centronuclear myopathy
| 3084 | Mirhosseini-Holmes-Walton syndrome
| 44 | Neonatal adrenoleukodystrophy
| 56 | Alkaptonuria
| 963 | Acromegaly
| 1059 | Blue rubber bleb nevus
| 1006 | Alopecia antibody deficiency
| 1046 | Lethal hemolytic anemia-genital anomalies syndrome

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