orphafolder

| 98026 | Rare odontologic disease
| 98028 | Rare circulatory system disease
| 97678 | Maternal uniparental disomy of chromosome 13
| 97598 | Congenital renal artery stenosis
| 97593 | Pseudohypoparathyroidism
| 97567 | Immunotactoid glomerulopathy
| 97564 | Pauci-immune glomerulonephritis without ANCA
| 97566 | Non-amyloid fibrillary glomerulopathy
| 97563 | Pauci-immune glomerulonephritis with ANCA
| 97935 | Rare gastroenterologic disease
| 97929 | Rare cardiac disease
| 97927 | Peripheral resistance to thyroid hormones
| 97685 | 17q11 microdeletion syndrome
| 97955 | Rare respiratory disease
| 97945 | Intestinal malformation
| 97944 | Gastroduodenal malformation
| 97966 | Rare ophthalmic disorder
| 97962 | Rare surgical thoracic disease
| 97965 | Rare surgical cardiac disease
| 97957 | Respiratory or thoracic malformation
| 95707 | Idiopathic isolated micropenis
| 95708 | Precocious puberty
| 95706 | Posterior hypospadias
| 95702 | Cytomegalic congenital adrenal hypoplasia
| 95715 | Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
| 95716 | Familial thyroid dyshormonogenesis
| 95713 | Athyreosis
| 95714 | Primary congenital hypothyroidism without thyroid developmental anomaly
| 95711 | Congenital hypothyroidism due to developmental anomaly
| 95712 | Thyroid ectopia
| 95709 | Acquired premature ovarian failure
| 95710 | Non-acquired premature ovarian failure
| 95619 | Iatrogenic or traumatic pituitary deficiency
| 95618 | Pituitary hormone deficiency secondary to storage disease
| 95617 | Pituitary hormone deficiency secondary to a granulomatous disease
| 95613 | Pituitary apoplexy
| 95700 | Familial adrenal hypoplasia with absent pituitary luteinizing hormone
| 95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
| 95698 | Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (removed in latest version)
| 95626 | Acquired central diabetes insipidus
| 95505 | Pituitary hormone deficiency from meningeal origin
| 95506 | Primary hypophysitis
| 95507 | Congenital anomaly of hepatic vein
| 95500 | Congenital anomaly of the coronary sinus
| 95501 | Congenital central diabetes insipidus
| 95502 | Acquired pituitary hormone deficiency
| 95503 | Pituitary hormone deficiency from tumoral origin
| 95512 | Adenohypophysitis
| 95513 | Panhypophysitis
| 95611 | Pituitary hormone defiency from vascular origin
| 95510 | Atrial appendage anomaly
| 95488 | Non-acquired pituitary hormone deficiency
| 95491 | Congenital coronary artery aneurysm
| 95485 | Arterial duct anomaly
| 95484 | Aneurysm or dilatation of ascending aorta
| 95486 | Premature closure of the arterial duct
| 95496 | Pituitary stalk interruption syndrome
| 95499 | Congenital anomaly of the inferior vena cava
| 95498 | Congenital anomaly of superior vena cava
| 95493 | Abnormal origin or aberrant course of coronary artery
| 95495 | Disease associated with non-acquired combined pituitary hormone deficiency
| 95494 | Combined pituitary hormone deficiencies, genetic forms
| 95443 | Mesocardia
| 95448 | Aortic valve atresia
| 95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
| 95434 | Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
| 95457 | Tricuspid valve agenesis
| 95458 | Tricuspid valve prolapse
| 95449 | Congenital aortic valve insufficiency
| 95455 | Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
| 95462 | Accessory tricuspid valve tissue
| 95463 | Anomaly of the tricuspid subvalvular apparatus
| 95459 | Congenital tricuspid stenosis
| 95461 | Straddling or overriding tricuspid valve
| 95474 | Double-orifice mitral valve
| 95483 | Univentricular cardiopathy
| 95464 | Congenital mitral valve insufficiency and/or stenosis
| 95465 | Cleft mitral valve
| 95157 | Acute hepatic porphyria
| 95232 | Lissencephaly due to LIS1 mutation
| 95161 | Chronic hepatic porphyria
| 95159 | Hepatoerythropoietic porphyria
| 95428 | COG8-CDG
| 95427 | Secondary short bowel syndrome
| 95426 | Chronic pain requiring intraspinal analgesia
| 95409 | Acute adrenal insufficiency
| 95432 | Primary progressive aphasia
| 95431 | Twin to twin transfusion syndrome
| 95430 | Congenital tracheomalacia
| 95429 | Angioma serpiginosum
| 94091 | Mills syndrome
| 94093 | Neuroleptic malignant syndrome
| 94095 | Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome
| 94122 | Cerebellar ataxia, Cayman type
| 94124 | Spinocerebellar ataxia with axonal neuropathy type 1
| 94125 | Recessive mitochondrial ataxia syndrome
| 94145 | Autosomal dominant cerebellar ataxia type I
| 94147 | Spinocerebellar ataxia type 7
| 94148 | Autosomal dominant cerebellar ataxia type III
| 94149 | Autosomal dominant cerebellar ataxia type IV

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