orphafolder

| 289478 | Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome
| 289103 | Hypocalcemic rickets
| 289098 | Disorders of vitamin D metabolism
| 289176 | Autosomal recessive hypophosphatemic rickets
| 289157 | Hypocalcemic vitamin D-dependent rickets
| 280926 | Systemic diseases with anterior uveitis
| 280921 | Idiopathic panuveitis
| 280917 | Idiopathic posterior uveitis
| 280914 | Idiopathic anterior uveitis
| 280898 | Panuveitis
| 280892 | Posterior uveitis
| 280886 | Anterior uveitis
| 281103 | Keratinopathic ichthyosis
| 281097 | Autosomal recessive congenital ichthyosis
| 281090 | Syndromic recessive X-linked ichthyosis
| 281085 | Inherited ichthyosis syndromic form
| 281082 | Inherited non-syndromic ichthyosis
| 280933 | Systemic diseases with panuveitis
| 280930 | Systemic diseases with posterior uveitis
| 281210 | X-linked ichthyosis syndrome
| 281217 | Autosomal ichthyosis syndrome
| 281190 | Congenital reticular ichthyosiform erythroderma
| 281201 | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
| 281139 | Annular epidermolytic ichthyosis
| 281122 | Self-improving collodion baby
| 281127 | Acral self-healing collodion baby
| 281244 | Autosomal ichthyosis syndrome with other associated signs
| 281238 | Autosomal ichthyosis syndrome with prominent neurologic signs
| 281241 | Autosomal ichthyosis syndrome with fatal disease course
| 281222 | Autosomal ichthyosis syndrome with prominent hair abnormalities
| 280628 | Familial progressive hyper- and hypopigmentation
| 280633 | Multiple congenital anomalies-hypotonia-seizures syndrome
| 280615 | Hemoglobinopathy Toms River
| 280598 | Hereditary sensorimotor neuropathy with hyperelastic skin
| 280620 | Progressive myoclonic epilepsy type 6
| 280663 | Hermansky-Pudlak syndrome type 9
| 280671 | Megaconial congenital muscular dystrophy
| 280640 | Occipital pachygyria and polymicrogyria
| 280654 | Autosomal recessive nail dysplasia
| 280651 | Acrodysostosis with multiple hormone resistance
| 280779 | Cutaneous collagenous vasculopathy
| 280785 | Bullous diffuse cutaneous mastocytosis
| 280794 | Pseudoxanthomatous diffuse cutaneous mastocytosis
| 280802 | Intralobar congenital pulmonary sequestration
| 280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
| 280763 | Severe intellectual disability and progressive spastic paraplegia
| 280774 | Generalized essential telangiectasia
| 280840 | Congenital pulmonary airway malformation type 2
| 280847 | Congenital pulmonary airway malformation type 3
| 280854 | Congenital pulmonary airway malformation type 4
| 280811 | Extralobar congenital pulmonary sequestration
| 280821 | Communicating congenital bronchopulmonary-foregut malformation
| 280827 | Congenital pulmonary airway malformation type 0
| 280832 | Congenital pulmonary airway malformation type 1
| 284149 | Craniosynostosis-dental anomalies
| 284139 | Larsen-like syndrome, B3GAT3 type
| 284180 | Xp22.13p22.2 duplication syndrome
| 284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
| 284160 | 8q21.11 microdeletion syndrome
| 284247 | Familial retinal arterial macroaneurysm
| 284232 | Autosomal dominant Charcot-Marie-Tooth disease type 2O
| 284227 | TEMPI syndrome
| 284271 | Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
| 284264 | IgG4-related disease
| 284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
| 284282 | Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
| 284289 | Adult-onset autosomal recessive cerebellar ataxia
| 284343 | Pleuropulmonary blastoma familial tumor susceptibility syndrome
| 284332 | Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
| 284339 | Pontocerebellar hypoplasia type 7
| 284385 | Familial intrahepatic cholestasis
| 284388 | Reversible cerebral vasoconstriction syndrome
| 284362 | Fetal lung interstitial tumor
| 284408 | Glycerol kinase deficiency, infantile form
| 284411 | Glycerol kinase deficiency, juvenile form
| 284395 | Well-differentiated fetal adenocarcinoma of the lung
| 284400 | Small cell carcinoma of the bladder
| 282124 | Partial deletion of chromosome 12
| 282196 | Autoimmune polyendocrinopathy
| 282166 | Inherited Creutzfeldt-Jakob disease
| 284102 | Response to antiviral treatment in hepatitis C
| 284113 | Susceptibility to adverse reaction due to mercaptopurine
| 284121 | Toxicity or absent response to clozapine
| 309848 | Disorder of magnesium transport
| 309845 | Disorder of zinc metabolism and transport
| 309842 | Disorder of iron metabolism and transport
| 309839 | Disorder of copper metabolism
| 310050 | Acquired immunodeficiency
| 309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
| 309851 | Disorder of manganese transport
| 309824 | Disorder of metabolite absorption and transport
| 309819 | Disorder of pterin metabolism
| 309816 | Disorder of bilirubin metabolism and excretion
| 309813 | Disorder of porphyrin and heme metabolism
| 309836 | Disorder of mineral absorption and transport
| 309833 | Disorder of other vitamins and cofactors metabolism and transport
| 309830 | Disorder of catecholamine synthesis
| 309827 | Disorder of vitamin and non-protein cofactor absorption and transport
| 309568 | Defect in conserved oligomeric Golgi complex
| 309778 | Defect in V-ATPase

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