orphafolder

| 376724 | Generalized isolated dystonia
| 371445 | Genetic syndromic esophageal malformation
| 371861 | Genetic hyperaldosteronism
| 371235 | Congenital disorder of glycosylation with developmental anomaly
| 371207 | Congenital disorder of glycosylation with nephropathy as a major feature
| 371200 | Congenital disorder of glycosylation with skin involvement
| 371212 | Congenital disorder of glycosylation with deafness as a major feature
| 371436 | Genetic neurovascular malformation
| 371433 | Genetic periodic paralysis
| 371442 | Sphingolipidosis with epilepsy
| 371428 | Multicentric osteolysis-nodulosis-arthropathy spectrum
| 371364 | Hypotonia-speech impairment-severe cognitive delay syndrome
| 391711 | Persistent combined dystonia
| 391673 | Necrotizing enterocolitis
| 391677 | Short stature-optic atrophy-Pelger-Huët anomaly syndrome
| 391723 | Mucinous adenocarcinoma of the appendix
| 391799 | Rare genetic dystonia
| 391474 | Frontorhiny
| 391504 | Transient neonatal myasthenia gravis
| 391497 | Juvenile myasthenia gravis
| 391490 | Adult-onset myasthenia gravis
| 391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
| 391646 | Feingold syndrome type 2
| 391641 | Feingold syndrome type 1
| 391665 | Homozygous familial hypercholesterolemia
| 391655 | Off-periods in Parkinson disease not responding to oral treatment
| 391651 | Glomus tumor
| 391343 | Fatal post-viral neurodegenerative disorder
| 391348 | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
| 391351 | SURF1-related Charcot-Marie-Tooth disease type 4
| 391366 | Growth retardation-mild developmental delay-chronic hepatitis syndrome
| 391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome
| 391376 | Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
| 391381 | Disorder of asparagine metabolism
| 391384 | Familial episodic pain syndrome
| 391389 | Familial episodic pain syndrome with predominantly upper body involvement
| 391392 | Familial episodic pain syndrome with predominantly lower limb involvement
| 391397 | Hereditary sensory and autonomic neuropathy type 7
| 391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
| 391411 | Atypical juvenile parkinsonism
| 391417 | HSD10 disease
| 391428 | HSD10 disease, infantile type
| 391457 | HSD10 disease, neonatal type
| 391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
| 391316 | Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
| 391311 | Susceptibility to viral and mycobacterial infections
| 391327 | X-linked calvarial hyperostosis
| 391320 | East Texas bleeding disorder
| 391330 | X-linked osteoporosis with fractures
| 398063 | Refractory celiac disease
| 398058 | Squamous cell carcinoma of the penis
| 398053 | Adenocarcinoma of the penis
| 398043 | Malignant tumor of penis
| 397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
| 397968 | Charcot-Marie-Tooth disease type 2R
| 397964 | Combined immunodeficiency due to MALT1 deficiency
| 397959 | TCR-alpha-beta-positive T-cell deficiency
| 397951 | Microcephaly-thin corpus callosum-intellectual disability syndrome
| 397946 | Autosomal spastic paraplegia type 58
| 397941 | MAN1B1-CDG
| 397937 | Polyglucosan body myopathy type 1
| 397933 | Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
| 397927 | Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
| 397922 | Ferro-cerebro-cutaneous syndrome
| 397787 | Severe combined immunodeficiency due to IKK2 deficiency
| 397802 | T+ B+ severe combined immunodeficiency
| 397755 | Periodic paralysis with transient compartment-like syndrome
| 397758 | Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
| 397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
| 397750 | Periodic paralysis with later-onset distal motor neuropathy
| 397725 | COASY protein-associated neurodegeneration
| 397735 | Autosomal dominant Charcot-Marie-Tooth disease type 2U
| 397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
| 397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy
| 397692 | Hereditary isolated aplastic anemia
| 397695 | 3q27.3 microdeletion syndrome
| 397623 | Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
| 397685 | Familial hyperprolactinemia
| 397615 | Obesity due to CEP19 deficiency
| 397618 | Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
| 397596 | Activated PI3K-delta syndrome
| 397593 | Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
| 397612 | Macrocephaly-developmental delay syndrome
| 397606 | PrP systemic amyloidosis
| 397590 | Silver-Russell syndrome due to a point mutation
| 397587 | Deep dermatophytosis
| 394532 | Multiple acyl-CoA dehydrogenase deficiency, mild type
| 394529 | Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
| 399839 | Rare female infertility due to a congenital hypogonadotropic hypogonadism
| 399831 | Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder
| 399824 | Rare disorder with obstructive azoospermia
| 399813 | Male infertility due to sperm motility disorder
| 399853 | Rare female infertility due to an anomaly of ovarian function
| 399849 | Rare female infertility due to an adrenal disorder
| 399846 | Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
| 399771 | Male infertility due to sperm disorder
| 399764 | Male infertility due to gonadal dysgenesis or sperm disorder
| 399685 | Rare male infertility due to testicular endocrine disorder
| 399584 | Rare male infertility due to adrenal disorder
| 399808 | Male infertility with teratozoospermia due to single gene mutation

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