orphafolder

| 263558 | Peeling skin syndrome type C
| 3035 | Growth delay-hydrocephaly-lung hypoplasia syndrome
| 3034 | Delayed membranous cranial ossification
| 263662 | Familial multiple meningioma
| 263548 | Peeling skin syndrome type A
| 3033 | Renal tubular dysgenesis
| 263553 | Peeling skin syndrome type B
| 263534 | Acral peeling skin syndrome
| 3032 | NPHP3-related Meckel-like syndrome
| 263543 | Generalized peeling skin syndrome
| 263516 | Progressive myoclonic epilepsy type 3
| 263524 | Acute necrotizing encephalopathy of childhood
| 263501 | COG4-CDG
| 3026 | Radial ray hypoplasia-choanal atresia syndrome
| 263508 | COG1-CDG
| 263482 | Spondyloepiphyseal dysplasia, Maroteaux type
| 3021 | RAPADILINO syndrome
| 3022 | Rapp-Hodgkin syndrome
| 263479 | Fuchs heterochromic iridocyclitis
| 3023 | External auditory canal atresia-vertical talus-hypertelorism syndrome
| 263494 | DPM3-CDG
| 263487 | COG5-CDG
| 263458 | Hyperinsulinism due to INSR deficiency
| 263455 | Hyperinsulinism due to HNF4A deficiency
| 1832 | Lethal osteosclerotic bone dysplasia
| 3018 | Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
| 3019 | Ramon syndrome
| 263463 | CHST3-related skeletal dysplasia
| 263432 | Nevus of Ito
| 263425 | Nevus of Ota
| 3015 | Radio-renal syndrome
| 263440 | Neuroacanthocytosis
| 3016 | Absent radius-anogenital anomalies syndrome
| 263435 | Congenital smooth muscle hamartoma
| 263410 | Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
| 3010 | Qazi-Markouizos syndrome
| 263355 | ATR-X-related syndrome
| 3011 | Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
| 263417 | Bartter syndrome with hypocalcemia
| 769 | Rabson-Mendenhall syndrome
| 263413 | Angiosarcoma
| 3003 | Pyknoachondrogenesis
| 263335 | Moderately-differentiated thymic neuroendocrine carcinoma
| 263339 | Poorly differentiated thymic neuroendocrine carcinoma
| 3005 | Pyle disease
| 263347 | MRCS syndrome
| 263352 | Postcardiotomy right ventricular failure
| 3004 | Mirror polydactyly-vertebral segmentation-limbs defects syndrome
| 263310 | Thymoma type A
| 2997 | Ptosis-vocal cord paralysis syndrome
| 263317 | Thymoma type B
| 263324 | Thymoma type AB
| 2999 | Ptosis-strabismus-ectopic pupils syndrome
| 263331 | Well-differentiated thymic neuroendocrine carcinoma
| 2998 | Carnevale syndrome
| 263054 | Uniparental disomy of chromosome 15
| 263059 | Uniparental disomy of chromosome 20
| 2990 | Autosomal recessive multiple pterygium syndrome
| 263064 | Uniparental disomy of chromosome 21
| 263297 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
| 263034 | Uniparental disomy of chromosome 11
| 2987 | Antecubital pterygium syndrome
| 2985 | Pseudoprogeria syndrome
| 263044 | Uniparental disomy of chromosome 13
| 2989 | Familial pterygium of the conjunctiva
| 263049 | Uniparental disomy of chromosome 14
| 2988 | Pterygium colli-intellectual disability-digital anomalies syndrome
| 262995 | Partial trisomy of the long arm of chromosome 20
| 262986 | Partial duplication of the long arm of chromosome 19
| 3138 | Ulnar-mammary syndrome
| 262977 | Partial trisomy of the long arm of chromosome 18
| 262968 | Partial duplication of the long arm of chromosome 17
| 263029 | Uniparental disomy of chromosome 7
| 3145 | Nephrogenic diabetes insipidus-intracranial calcification syndrome
| 263024 | Uniparental disomy of chromosome 6
| 263019 | Uniparental disomy of chromosome 1
| 3143 | Autoimmune polyendocrinopathy type 2
| 3144 | Schneckenbecken dysplasia
| 263004 | Partial duplication of the long arm of chromosome 22
| 262923 | Partial duplication of the long arm of chromosome 11
| 3132 | Say-Barber-Miller syndrome
| 262914 | Partial duplication of the long arm of chromosome 10
| 262905 | Partial trisomy of the long arm of chromosome 9
| 3130 | Satoyoshi syndrome
| 262896 | Partial duplication of the long arm of chromosome 8
| 262959 | Partial trisomy of the long arm of chromosome 16
| 798 | Schinzel-Giedion syndrome
| 262950 | Partial duplication of the long arm of chromosome 15
| 3133 | Say-Field-Coldwell syndrome
| 262941 | Partial duplication of the long arm of chromosome 14
| 3134 | SCARF syndrome
| 262932 | Partial duplication of the long arm of chromosome 13
| 3121 | Ruvalcaba syndrome
| 262842 | Partial duplication of the long arm of chromosome 2
| 262851 | Partial duplication of the long arm of chromosome 3
| 3118 | Rudiger syndrome
| 262833 | Partial duplication of the long arm of chromosome 1
| 262878 | Partial duplication of the long arm of chromosome 6
| 262887 | Partial duplication of the long arm of chromosome 7
| 262860 | Partial duplication of the long arm of chromosome 4

« Til de 100 forrige Til de 100 næste » 1 ... 26 27 28 29 30 31 32 ... 97

Handlinger tilknyttet webside

Send this