Rare Disease Library

Melorheostosis with osteopoikilosis

MSBD syndrome · Mixed sclerosing bone dystrophy

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Microphthalmia-brain atrophy syndrome

MCOPS10 · MOBA syndrome

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

N syndrome

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

NARP syndrome

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

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

Nelson syndrome

Neonatal ichthyosis-sclerosing cholangitis syndrome

Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · IHSC

NESCAV syndrome

Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome

NEVADA syndrome

Nevus epidermicus verrucosus with angiodysplasia and aneurysms

Nevo syndrome

Cerebral gigantism, Nevo type

Nicolau syndrome

Embolia cutis medicamentosa · Livedo-like dermatitis

NOCARH syndrome

Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome · Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Noonan syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Oculogastrointestinal-neurodevelopmental syndrome

OGIN Syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

PAGOD syndrome

Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

Painful legs and moving toes syndrome

PLMT syndrome

PAPA syndrome

FRA · Familial recurrent arthritis

PAPASH syndrome

Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

PASH syndrome

Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

PLACK syndrome

PEHO syndrome

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Perry syndrome

Parkinsonism with alveolar hypoventilation and mental depression

Peters plus syndrome

Krause-Kivlin syndrome · Krause-van Schooneveld-Kivlin syndrome

PFAPA syndrome

Marshall syndrome with periodic fever · Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome