orphafolder

| 88619 | Familial acute necrotizing encephalopathy
| 88618 | Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
| 88616 | Autosomal recessive non-syndromic intellectual disability
| 87884 | Non-syndromic genetic deafness
| 87876 | Sialidosis type 2
| 87503 | Mal de Meleda
| 87277 | Rare intellectual disability
| 86923 | Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
| 86920 | Dermatopathia pigmentosa reticularis
| 86919 | Keratosis palmaris et plantaris-clinodactyly syndrome
| 86918 | Diffuse palmoplantar keratoderma-acrocyanosis syndrome
| 86915 | Lymphedema-atrial septal defects-facial changes syndrome
| 86913 | Myoclonic epilepsy in non-progressive encephalopathies
| 86914 | Lymphedema-cerebral arteriovenous anomaly syndrome
| 86909 | Myoclonic epilepsy of infancy
| 86911 | Epilepsy with myoclonic absences
| 86906 | Hypothalamic hamartomas with gelastic seizures
| 86908 | Idiopathic hemiconvulsion-hemiplegia syndrome
| 86903 | Dendritic cell sarcoma not otherwise specified
| 86904 | Methotrexate-associated lymphoproliferative disorders
| 86900 | Interdigitating dendritic cell sarcoma
| 86902 | Follicular dendritic cell sarcoma
| 86896 | Histiocytic sarcoma
| 86897 | Langerhans cell sarcoma
| 89832 | Syndromic lymphedema
| 89826 | Rare skin disease
| 89833 | Palmoplantar keratoderma with tonotubular keratin
| 89838 | Epidermolysis bullosa simplex, autosomal recessive K14
| 89043 | Rare dementia
| 88949 | MUC1-related autosomal dominant tubulointerstitial kidney disease
| 88950 | UMOD-related autosomal dominant tubulointerstitial kidney disease
| 88991 | Rare congenital non-syndromic heart malformation
| 88993 | Esophageal malformation
| 88940 | Pseudohypoaldosteronism type 2C
| 88939 | Pseudohypoaldosteronism type 2B
| 88938 | Pseudohypoaldosteronism type 2A
| 88924 | Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
| 88918 | Autosomal dominant Alport syndrome
| 88919 | Autosomal recessive Alport syndrome
| 88917 | X-linked Alport syndrome
| 93256 | Fragile X-associated tremor/ataxia syndrome
| 93222 | Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
| 93221 | Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
| 93220 | Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
| 93218 | Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
| 93217 | Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
| 93216 | Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
| 93214 | Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
| 93262 | Crouzon syndrome-acanthosis nigricans syndrome
| 93260 | Pfeiffer syndrome type 3
| 93259 | Pfeiffer syndrome type 2
| 93258 | Pfeiffer syndrome type 1
| 93271 | Short rib-polydactyly syndrome, Verma-Naumoff type
| 93269 | Short rib-polydactyly syndrome, Majewski type
| 93270 | Short rib-polydactyly syndrome, Saldino-Noonan type
| 93267 | Cloverleaf skull-multiple congenital anomalies syndrome
| 93268 | Short rib-polydactyly syndrome, Beemer-Langer type
| 93282 | Spondyloepimetaphyseal dysplasia, PAPSS2 type
| 93283 | Spondyloepiphyseal dysplasia, Kimberley type
| 93279 | Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
| 93280 | Spondyloepiphyseal dysplasia, Omani type
| 93276 | Polyostotic fibrous dysplasia
| 93277 | Monostotic fibrous dysplasia
| 93274 | Thanatophoric dysplasia type 2
| 93275 | Thanatophoric dysplasia, Glasgow variant
| 93108 | Renal dysplasia
| 93101 | Renal hypoplasia
| 93110 | Posterior urethral valve
| 93109 | Congenital megacalycosis
| 91547 | Relapsing fever
| 93100 | Renal agenesis, unilateral
| 92050 | Congenital tufting enteropathy
| 93160 | Hypocalcemic vitamin D-resistant rickets
| 93164 | Transient pseudohypoaldosteronism
| 93114 | Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
| 93111 | Renal cysts and diabetes syndrome
| 93126 | Pauci-immune glomerulonephritis
| 93177 | Congenital bilateral megacalycosis
| 93172 | Renal dysplasia, unilateral
| 93173 | Renal dysplasia, bilateral
| 93176 | Unilateral congenital megacalycosis
| 93207 | Idiopathic steroid-sensitive nephrotic syndrome with minimal change
| 93209 | Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation
| 93213 | Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
| 93206 | Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis
| 93322 | Tibial hemimelia
| 93321 | Radial hemimelia
| 93320 | Ulnar hemimelia
| 93325 | Autosomal dominant Kenny-Caffey syndrome
| 93324 | Autosomal recessive Kenny-Caffey syndrome
| 93323 | Fibular hemimelia
| 93329 | Autosomal recessive omodysplasia
| 93328 | Autosomal dominant omodysplasia
| 93336 | Polydactyly of a triphalangeal thumb
| 93335 | Postaxial polydactyly type B
| 93334 | Postaxial polydactyly type A
| 93333 | Pelviscapular dysplasia
| 93339 | Polydactyly of a biphalangeal thumb
| 93337 | Polydactyly of an index finger
| 93338 | Polysyndactyly

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