Rare Disease Library

Noonan syndrome-like disorder with loose anagen hair

NS/LAH · Mazzanti syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

Ophthalmomandibulomelic dysplasia

OMM syndrome · Pillay syndrome

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Orofaciodigital syndrome type 2

Mohr syndrome · OFD2

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

Paternal 20q13.2q13.3 microdeletion syndrome

Paternal del(20)(q13.2q13.3) · Paternal monosomy 20q13.2q13.3

Paternal uniparental disomy syndrome

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

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

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

PHAVER syndrome

Powell-Chandra-Saal syndrome

PIBIDS syndrome

Trichothiodystrophy type F · Trichothiodystrophy-sun sensitivity syndrome

Plummer-Vinson syndrome

Kelly-Paterson syndrome · Sideropenic dysphagia

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Poland syndrome

Poland anomaly · Poland sequence

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

PMSE syndrome

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Preaxial polydactyly-colobomata-intellectual disability syndrome

Pfeiffer-Mayer syndrome

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Progressive supranuclear palsy

PSP syndrome

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

PUM1-associated developmental disability-ataxia-seizure syndrome

PADDAS syndrome

Radio-renal syndrome

Rare developmental defect during embryogenesis

Malformation syndrome

Renal coloboma syndrome

Coloboma of optic nerve with renal disease · Papillo-renal syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

SERKAL syndrome

Sex reversion-kidneys, adrenal and lung dysgenesis syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Triphalangeal thumb-polysyndactyly syndrome

TPT-PS syndrome

Triple A syndrome

2A syndrome · 3A syndrome