Lista chorób rzadkich*

400008 - Rare genetic female infertility

400011 - Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin

400018 - Rare female infertility due to adrenal disorder of genetic origin

400022 - Rare female infertility due to an anomaly of ovarian function of genetic origin

400025 - Female infertility due to an implantation defect of genetic origin

401764 - Pancytopenia-developmental delay syndrome

401768 - Proximal myopathy with extrapyramidal signs

401777 - Optic atrophy-intellectual disability syndrome

401780 - Autosomal recessive spastic paraplegia type 61

401785 - Autosomal recessive spastic paraplegia type 62

401795 - Autosomal recessive spastic paraplegia type 59

401800 - Autosomal recessive spastic paraplegia type 60

401805 - Autosomal recessive spastic paraplegia type 63

401810 - Autosomal recessive spastic paraplegia type 64

401815 - Autosomal recessive spastic paraplegia type 66

401820 - Autosomal recessive spastic paraplegia type 67

401825 - Autosomal recessive spastic paraplegia type 68

401830 - Autosomal recessive spastic paraplegia type 69

401835 - Autosomal recessive spastic paraplegia type 70

401840 - Autosomal recessive spastic paraplegia type 71

401849 - Autosomal spastic paraplegia type 72

401854 - Lipoic acid biosynthesis defect

401859 - Lipoic acid synthetase deficiency

401862 - Lipoyl transferase 1 deficiency

401866 - Childhood-onset spasticity with hyperglycinemia

401869 - Multiple mitochondrial dysfunctions syndrome type 1

401874 - Multiple mitochondrial dysfunctions syndrome type 2

401901 - Huntington disease-like syndrome due to C9ORF72 expansions

401911 - AXIN2-related attenuated familial adenomatous polyposis

401920 - Fibrolamellar hepatocellular carcinoma

401923 - 9q31.1q31.3 microdeletion syndrome

401935 - 14q24.1q24.3 microdeletion syndrome

401942 - Familial median cleft of the upper and lower lips

401945 - Moyamoya disease with early-onset achalasia

401948 - Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

401953 - Episodic ataxia with slurred speech

401959 - Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome

401964 - Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

401973 - MEND syndrome

401979 - Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

401986 - 1p31p32 microdeletion syndrome

401993 - Cold-induced sweating syndrome-hyperthermia spectrum

401996 - Karyomegalic interstitial nephritis

402003 - Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering

402007 - Lichen myxedematosus

402014 - Acute myeloid leukemia with t(6;9)(p23;q34)

402017 - Acute myeloid leukemia with t(9;11)(p22;q23)

402020 - Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)

402023 - Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)

402026 - Acute myeloid leukemia with NPM1 somatic mutations

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