Lista chorób rzadkich*

394532 - Multiple acyl-CoA dehydrogenase deficiency, mild type

397587 - Deep dermatophytosis

397590 - Silver-Russell syndrome due to a point mutation

397593 - Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency

397596 - Activated PI3K-delta syndrome

397606 - PrP systemic amyloidosis

397612 - Macrocephaly-developmental delay syndrome

397615 - Obesity due to CEP19 deficiency

397618 - Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome

397623 - Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

397685 - Familial hyperprolactinemia

397692 - Hereditary isolated aplastic anemia

397695 - 3q27.3 microdeletion syndrome

397709 - Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

397715 - Joubert syndrome with Jeune asphyxiating thoracic dystrophy

397725 - COASY protein-associated neurodegeneration

397735 - Autosomal dominant Charcot-Marie-Tooth disease type 2U

397744 - Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome

397750 - Periodic paralysis with later-onset distal motor neuropathy

397755 - Periodic paralysis with transient compartment-like syndrome

397758 - Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

397787 - Severe combined immunodeficiency due to IKK2 deficiency

397802 - T+ B+ severe combined immunodeficiency

397922 - Ferro-cerebro-cutaneous syndrome

397927 - Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome

397933 - Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

397937 - Polyglucosan body myopathy type 1

397941 - MAN1B1-CDG

397946 - Autosomal spastic paraplegia type 58

397951 - Microcephaly-thin corpus callosum-intellectual disability syndrome

397959 - TCR-alpha-beta-positive T-cell deficiency

397964 - Combined immunodeficiency due to MALT1 deficiency

397968 - Charcot-Marie-Tooth disease type 2R

397973 - Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

398043 - Malignant tumor of penis

398053 - Adenocarcinoma of the penis

398058 - Squamous cell carcinoma of the penis

398063 - Refractory celiac disease

398069 - MAGEL2-related Prader-Willi-like syndrome

398073 - Prader-Willi-like syndrome

398079 - SIM1-related Prader-Willi-like syndrome

398088 - Hereditary cryohydrocytosis with normal stomatin

398091 - Secondary neonatal autoimmune disease

398097 - Neonatal antiphospholipid syndrome

398109 - Neonatal autoimmune hemolytic anemia

398117 - Neonatal dermatomyositis

398124 - Neonatal lupus erythematosus

398127 - Neonatal scleroderma

398147 - Persistent idiopathic facial pain

398156 - Oculoauriculofrontonasal syndrome

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl

© 2023 Centrum e-Zdrowia. Wszystkie prawa zastrzeżone