Rare Disease Library

Myopathic intestinal pseudoobstruction

Myopathy and diabetes mellitus

Myopathy with hexagonally cross-linked tubular arrays

Myopericytoma

Myosclerosis

Congenital myosclerosis, Löwenthal type

Myosin storage myopathy

Hyaline body myopathy

Myospherulosis

Subcutaneous spherulocystic disease · Spherulocytosis

Myotilinopathy

Qualitative or quantitative defects of myotilin

Myotonia fluctuans

Exercise-induced delayed-onset myotonia · Fluctuating myotonia

Myotonia permanens

Myotonic dystrophy

Myotonic dystrophy type 3

Myotonic syndrome

MYT1L-related developmental delay-intellectual disability-obesity syndrome

MYT1L-associated neurodevelopmental disorder

Myxofibrosarcoma

Fibromyxosarcoma · Myxoid malignant fibrous histiocytoma

Myxoid/round cell liposarcoma

MRCLS

Myxopapillary ependymoma

N syndrome

NAD(P)HX dehydratase deficiency

CARKD deficiency

NAD(P)HX epimerase deficiency

Apolipoprotein A-I binding protein deficiency

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Ectodermal dysplasia-short stature syndrome · Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Nail anomaly

Nail-patella syndrome

Onychoosteodysplasia · Turner-Kieser syndrome

Nail-patella-like renal disease

Salcedo syndrome

Nakajo-Nishimura syndrome

Amyotrophy-fat tissue anomaly syndrome · Secondary hypertrophic osteoperiostosis with pernio

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

Nance-Horan syndrome

Nanophthalmos

Nanophthalmia

Narcolepsy

Narcolepsy with or without cataplexy

Narcolepsy type 1

Gélineau disease · Narcolepsy-cataplexy

Narcolepsy type 2

Narcolepsy without cataplexy

NARP syndrome

Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome · Neuropathy-ataxia-retinitis pigmentosa syndrome

Nasal dermoid cyst

Nasal dermoid sinus cyst

Nasal dorsum fistula

Nasal encephalocele

Nasal ganglioglioma

Nasal glial heterotopia

Nasal glioma

Nasolacrimal duct cyst

Dacryocystocele · Nasolacrimal mucocele

Nasopalpebral lipoma-coloboma syndrome

Nasopharyngeal carcinoma

NCP · Squamous cell carcinoma of the nasopharynx

Nasopharyngeal teratoma

Teratoma of the nasopharynx

Nasu-Hakola disease

NHD · PLO-SL

Nathalie syndrome

Deafness-cataract-skeletal anomalies syndrome · Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome

Native American myopathy

Congenital myopathy-cleft palate-malignant hyperthermia syndrome · Bailey-Bloch congenital myopathy

Navajo neurohepatopathy

Navajo neuropathy

Naxos disease

KWWH type I · Keratoderma with woolly hair type I