Rare Disease Library

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

PLAAT3-related lipodystrophy syndrome

Luscan-Lumish syndrome

SETD2-related overgrowth syndrome

Majeed syndrome

Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome

Malpuech syndrome

3MC3 syndrome · Malpuech facial clefting syndrome

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Marfan syndrome and Marfan-related disorders

MBD4-related tumor predisposition syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS 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

Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome

ARPC4-related syndrome

Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome

PRR12-related neuroocular 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

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · Olmsted syndrome

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

5q- syndrome · MDS

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

N syndrome

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Noonan syndrome and Noonan-related syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

OBSOLETE: ATR-X-related syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

AMOTL1-related syndrome

Orofaciodigital syndrome type 7

OFD7 · Oral-facial-digital syndrome type 7

Osteosclerotic bone dysplasia

Raine syndrome

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

Pai syndrome

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

PBX1-related congenital anomalies of kidney-urinary tract syndrome

PBX1-related syndromic CAKUT

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

PIK3CA-related overgrowth syndrome

PROS

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Progressive deafness with stapes fixation

Stapedo-vestibular ankylosis · Thies-Reis syndrome

Progressive hemifacial atrophy

Hemifacial atrophy · PHA

Progressive supranuclear palsy

PSP syndrome

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

PRUNE1-related neurological syndrome

PYCR1-related De Barsy syndrome

PYCR1 deficiency · Pyrroline-5-carboxylate reductase 1 deficiency

RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome

RAC2-related CID · Combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome related to Rac family small GTPase 2