Rare Disease Library

Otodental syndrome

Globodontia · Otodental dysplasia

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

Otomandibular dysplasia

Otomandibular dysplasia associated with monogenic syndromes

Otomandibular syndrome

First branchial arch syndrome · Laterofacial microsomia

Otoonychoperoneal syndrome

Otopalatodigital syndrome spectrum disorder

OPSD · OPD spectrum disorder

Otopalatodigital syndrome type 1

OPD I syndrome · OPD syndrome 1

Otopalatodigital syndrome type 2

OPD II syndrome · OPD syndrome 2

Ovarian dysgerminoma

Dysgerminoma of ovary · Dysgerminomatous germ cell cancer of the ovary

Ovarian fibroma

Ovarian fibrothecoma

Ovarian hyperstimulation syndrome

OHSS

Ovarioleukodystrophy

Overgrowth or tall stature syndrome with skeletal involvement

Overgrowth syndrome

Overgrowth syndrome with 2q37 translocation

Overgrowth-macrocephaly-facial dysmorphism syndrome

Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome

Overgrowth/obesity syndrome

Overhydrated hereditary stomatocytosis

Overlap myositis

Non-specific myositis · Adult-onset overlap myositis

Overlapping connective tissue disease

Oxoglutaric aciduria

Alpha-ketoglutarate dehydrogenase deficiency

Pachydermoperiostosis

PDP · Touraine-Solente-Gole syndrome

Pachygyria-intellectual disability-epilepsy syndrome

Kuzniecky syndrome

Pachyonychia congenita

PC

Paget disease of the nipple

Paget's disease of the nipple · Paget disease of the breast

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

PAICS deficiency

Phosphoribosylaminoimidazole carboxylase deficiency

Painful legs and moving toes syndrome

PLMT syndrome

Painful orbital and systemic neurofibromas-marfanoid habitus syndrome

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Pallister-Hall syndrome

Hypothalamic hamartoblastoma syndrome

Pallister-Killian syndrome

Isochromosome 12p mosaicism · Isochromosome 12p syndrome

Palmoplantar keratoderma with tonotubular keratin

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

Palmoplantar keratoderma-esophageal carcinoma syndrome

Bennion-Patterson syndrome · Howell-Evans syndrome

Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome

Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome

Palmoplantar keratoderma-spastic paralysis syndrome

Palmoplantar hyperkeratosis-spastic paralysis syndrome · Powell-Venencie-Gordon syndrome

Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome

Palmoplantar keratoderma, Nagashima type

PPK, Nagashima type · Palmoplantar hyperkeratosis, Nagashima type

Palmoplantar porokeratosis of Mantoux

Pancreatic agenesis-holoprosencephaly syndrome

Pancreatic arteriovenous malformation

Arteriovenous malformation of the pancreas

Pancreatic colipase deficiency

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Pancreatic agenesis and congenital heart defects syndrome · Yorifuji-Okuno syndrome