orphafolder

| 93349 | X-linked spondyloepimetaphyseal dysplasia
| 93346 | Spondyloepimetaphyseal dysplasia congenita, Strudwick type
| 93347 | Anauxetic dysplasia
| 93356 | Spondyloepimetaphyseal dysplasia, Missouri type
| 93351 | Spondyloepimetaphyseal dysplasia, Irapa type
| 93352 | Spondyloepimetaphyseal dysplasia, Shohat type
| 93284 | Spondyloepiphyseal dysplasia tarda
| 93292 | Adenoma of pancreas
| 93293 | Okihiro syndrome
| 93296 | Achondrogenesis type 2
| 93298 | Achondrogenesis type 1B
| 93297 | Hypochondrogenesis
| 93299 | Achondrogenesis type 1A
| 93302 | Brachyolmia, Maroteaux type
| 93301 | Brachyolmia type 1, Hobaek type
| 93303 | Brachyolmia type 1, Toledo type
| 93304 | Autosomal dominant brachyolmia
| 93307 | Multiple epiphyseal dysplasia type 4
| 93308 | Multiple epiphyseal dysplasia type 1
| 93311 | Multiple epiphyseal dysplasia type 5
| 93314 | Spondylometaphyseal dysplasia, Kozlowski type
| 93315 | Spondylometaphyseal dysplasia, 'corner fracture' type
| 93316 | Spondylometaphyseal dysplasia, Schmidt type
| 93317 | Spondylometaphyseal dysplasia, Sedaghatian type
| 90692 | Rare endocrine growth disease
| 90673 | Hypothyroidism due to TSH receptor mutations
| 90674 | Isolated thyroid-stimulating hormone deficiency
| 90658 | Charcot-Marie-Tooth disease type 1E
| 90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
| 90790 | Congenital lipoid adrenal hyperplasia due to STAR deficency
| 90787 | 46,XY disorder of sex development due to testicular steroidogenesis defect
| 90786 | 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
| 90783 | 46,XY disorder of sex development due to a testosterone synthesis defect
| 90776 | 46,XX disorder of sex development induced by fetal androgens excess
| 90771 | Disorder of sex development
| 90695 | Panhypopituitarism
| 90400 | Scleromyxedema without monoclonal gammopathy
| 90625 | X-linked non-syndromic sensorineural deafness type DFN
| 90635 | Autosomal dominant non-syndromic sensorineural deafness type DFNA
| 90636 | Autosomal recessive non-syndromic sensorineural deafness type DFNB
| 90396 | Acral persistent papular mucinosis
| 90397 | Self-healing papular mucinosis
| 90398 | Localized lichen myxedematosus with mixed features of different subtypes
| 90399 | Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms
| 90393 | Nodular lichen myxedematosus
| 90394 | Discrete papular lichen myxedematosus
| 90395 | Papular mucinosis of infancy
| 90368 | Hypotrichosis simplex of the scalp
| 90389 | Telangiectasia macularis eruptiva perstans
| 90390 | Anonychia-onychodystrophy syndrome
| 90653 | Stickler syndrome type 1
| 90652 | Otopalatodigital syndrome type 2
| 90654 | Stickler syndrome type 2
| 90647 | Jervell and Lange-Nielsen syndrome
| 90650 | Otopalatodigital syndrome type 1
| 90649 | Orofaciodigital syndrome type 7
| 90646 | Deafness-hypogonadism syndrome
| 90642 | Syndromic genetic deafness
| 90641 | Mitochondrial non-syndromic sensorineural deafness
| 91387 | Familial thoracic aortic aneurysm and aortic dissection
| 91396 | Isolated cryptophthalmia
| 91378 | Hereditary angioedema
| 91385 | Acquired angioedema
| 91412 | Marcus-Gunn syndrome
| 91413 | Congenital Horner syndrome
| 91397 | Isolated ankyloblepharon filiforme adnatum
| 91411 | Congenital ptosis
| 91357 | Duplication of the esophagus
| 91354 | Pituitary deficiency due to empty sella turcica syndrome
| 91355 | Sheehan syndrome
| 91364 | Non-specific interstitial pneumonia
| 91358 | Congenital esophageal diverticulum
| 91359 | Chronic pneumonitis of infancy
| 91496 | Snowflake vitreoretinal degeneration
| 91495 | Persistent hyperplastic primary vitreous
| 91494 | Macular coloboma-cleft palate-hallux valgus syndrome
| 91492 | Early-onset non-syndromic cataract
| 91546 | Lyme disease
| 91500 | Tubulointerstitial nephritis and uveitis syndrome
| 91498 | Familial congenital palsy of trochlear nerve
| 91481 | Ring dermoid of cornea
| 91416 | Isolated congenital alacrima
| 91414 | Pilomatrixoma
| 91491 | Congenital ectropion uveae
| 91490 | Isolated congenital sclerocornea
| 91489 | Isolated congenital megalocornea
| 91483 | Rieger anomaly
| 91127 | Adenovirus infection in immunocompromised patients
| 91129 | Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome
| 91130 | Cardiomyopathy-hypotonia-lactic acidosis syndrome
| 91131 | DK1-CDG
| 91132 | Ichthyosis-hypotrichosis syndrome
| 91133 | Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome
| 90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
| 90794 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
| 90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
| 90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
| 90797 | Partial androgen insensitivity syndrome
| 90970 | Primary lipodystrophy
| 91024 | Autosomal recessive axonal hereditary motor and sensory neuropathy

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