orphafolder

| 2875 | Phakomatosis pigmentovascularis
| 268823 | Occipital encephalocele
| 2876 | PHAVER syndrome
| 268820 | Cranial meningocele
| 268817 | Cephalocele
| 2874 | Phakomatosis pigmentokeratotica
| 268813 | Myelocystocele
| 268810 | Posterior meningocele
| 2871 | Pfeiffer-Palm-Teller syndrome
| 2872 | Cardiocranial syndrome, Pfeiffer type
| 2867 | Short stature, Brussels type
| 2868 | Short stature-valvular heart disease-characteristic facies syndrome
| 2846 | Congenital pericardium anomaly
| 2842 | Penoscrotal transposition
| 2848 | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
| 2847 | Pericardial and diaphragmatic defect
| 268357 | Neural tube closure defect
| 2838 | Renal caliceal diverticuli-deafness syndrome
| 268322 | Hereditary thrombocytopenia with normal platelets
| 2837 | Pellagra-like skin rash-neurological manifestations syndrome
| 2840 | Pelvic dysplasia-arthrogryposis of lower limbs syndrome
| 2839 | Pelvis-shoulder dysplasia
| 268337 | Autosomal recessive intermediate Charcot-Marie-Tooth disease
| 268384 | Thoracolumbosacral spina bifida aperta
| 2855 | Perrault syndrome
| 2854 | Fuhrmann syndrome
| 268388 | Lumbosacral spina bifida aperta
| 268392 | Cervical spina bifida aperta
| 708 | Peters anomaly
| 268397 | Cervicothoracic spina bifida aperta
| 268363 | Open iniencephaly
| 268366 | Closed iniencephaly
| 2850 | Alopecia-intellectual disability syndrome
| 2853 | Serpentine fibula-polycystic kidneys syndrome
| 268369 | Spina bifida aperta
| 268377 | Total spina bifida aperta
| 268114 | RAS-associated autoimmune leukoproliferative disease
| 2825 | PARC syndrome
| 2826 | Spastic paraplegia-precocious puberty syndrome
| 268139 | Intraocular medulloepithelioma
| 268129 | Spheroid body myopathy
| 2829 | Partington-Anderson syndrome
| 2819 | Spastic paraplegia-facial-cutaneous lesions syndrome
| 2820 | Spastic paraplegia-nephritis-deafness syndrome
| 2821 | Spastic paraplegia-neuropathy-poikiloderma syndrome
| 2822 | Autosomal recessive spastic paraplegia type 11
| 2835 | Pectus excavatum-macrocephaly-dysplastic nails syndrome
| 268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
| 2836 | PEHO syndrome
| 268249 | Mycophenolate mofetil embryopathy
| 268316 | Complication in hemodialysis
| 268162 | Intermediate maple syrup urine disease
| 2832 | Short tarsus-absence of lower eyelashes syndrome
| 268145 | Classic maple syrup urine disease
| 2833 | Stiff skin syndrome
| 268184 | Thiamine-responsive maple syrup urine disease
| 2834 | Wrinkly skin syndrome
| 268173 | Intermittent maple syrup urine disease
| 2969 | Proteus-like syndrome
| 2964 | Autosomal dominant prognathism
| 2962 | De Barsy syndrome
| 2973 | 46,XX disorder of sex development-anorectal anomalies syndrome
| 2972 | Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
| 750 | Pseudoachondroplasia
| 2976 | Pseudoleprechaunism syndrome, Patterson type
| 2975 | 46,XX disorder of sex development-skeletal anomalies syndrome
| 2980 | Acrootoocular syndrome
| 2978 | Chronic intestinal pseudoobstruction
| 264973 | Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
| 264968 | Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
| 2946 | Brachydactyly-long thumb syndrome
| 1848 | Renal agenesis, bilateral
| 264955 | Langerhans cell histiocytosis in childhood and adulthood
| 264949 | Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
| 2950 | Triphalangeal thumb-polysyndactyly syndrome
| 2951 | Absent thumb-short stature-immunodeficiency syndrome
| 264992 | Genetic interstitial lung disease
| 2947 | Triphalangeal thumbs-brachyectrodactyly syndrome
| 264984 | Exposure-related interstitial lung disease
| 264978 | Drug or radiation exposure-related interstitial lung disease
| 2956 | Acrodysplasia scoliosis
| 2952 | Adducted thumbs-arthrogryposis syndrome, Christian type
| 740 | Hutchinson-Gilford progeria syndrome
| 2959 | Progeria-short stature-pigmented nevi syndrome
| 2957 | Guttmacher syndrome
| 2958 | X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
| 264694 | Interstitial lung disease specific to infancy
| 2924 | Isolated polycystic liver disease
| 264699 | Secondary interstitial lung disease specific to childhood associated with a systemic disease
| 264704 | Secondary interstitial lung disease specific to childhood associated with a connective tissue disease
| 2926 | Digital extensor muscle aplasia-polyneuropathy
| 264709 | Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
| 264714 | Secondary interstitial lung disease specific to childhood associated with a granulomatous disease
| 2928 | Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
| 264719 | Secondary interstitial lung disease specific to childhood associated with a metabolic disease
| 264724 | Langerhans cell histiocytosis specific to childhood
| 2930 | Cronkhite-Canada syndrome
| 264735 | Interstitial lung disease specific to adulthood
| 264740 | Primary interstitial lung disease specific to adulthood
| 2935 | Crossed polysyndactyly

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