Members |
languageDialectCode |
typeId |
value |
Paternal uniparental disomy of chromosome 20 (disorder) |
en |
Attribution |
Inserm Orphanet |
Pediatric arterial ischemic stroke |
en |
Attribution |
Inserm Orphanet |
Pediatric collagenous gastritis |
en |
Attribution |
Inserm Orphanet |
Pediatric hepatocellular carcinoma |
en |
Attribution |
Inserm Orphanet |
Paediatric multiple sclerosis |
en |
Attribution |
Inserm Orphanet |
Peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Pelizaeus Merzbacher like disease (disorder) |
en |
Attribution |
Inserm Orphanet |
Pelvis shoulder dysplasia (disorder) |
en |
Attribution |
Inserm Orphanet |
Pelviscapular dysplasia |
en |
Attribution |
Inserm Orphanet |
Periodic fever and aphthous stomatitis with pharyngitis and cervical lymphadenitis syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Periodic fever, infantile enterocolitis, autoinflammatory syndrome |
en |
Attribution |
Inserm Orphanet |
PMP2-related Charcot-Marie-Tooth disease type 1 |
en |
Attribution |
Inserm Orphanet |
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) |
en |
Attribution |
Inserm Orphanet |
Persistent left superior vena cava connecting through coronary sinus to left sided atrium |
en |
Attribution |
Inserm Orphanet |
Persistent placoid maculopathy (disorder) |
en |
Attribution |
Inserm Orphanet |
Phocomelia Schinzel type (disorder) |
en |
Attribution |
Inserm Orphanet |
PDE4D haploinsufficiency syndrome |
en |
Attribution |
Inserm Orphanet |
Phosphoglucomutase 3-related congenital disorder of glycosylation (disorder) |
en |
Attribution |
Inserm Orphanet |
Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) |
en |
Attribution |
Inserm Orphanet |
Phyllodes tumor of prostate (disorder) |
en |
Attribution |
Inserm Orphanet |
Piebaldism (disorder) |
en |
Attribution |
Inserm Orphanet |
Pierpont syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis |
en |
Attribution |
Inserm Orphanet |
Pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Pili bifurcati (disorder) |
en |
Attribution |
Inserm Orphanet |
Pili torti with developmental delay and neurological abnormality syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Pineocytoma |
en |
Attribution |
Inserm Orphanet |
Pituitary deficiency due to empty sella turcica syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Pituitary stalk interruption syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome |
en |
Attribution |
Inserm Orphanet |
Pneumonia caused by Pseudomonas aeruginosa (disorder) |
en |
Attribution |
Inserm Orphanet |
Polyclonal hyperviscosity syndrome |
en |
Attribution |
Inserm Orphanet |
Polydactyly of triphalangeal thumb (disorder) |
en |
Attribution |
Inserm Orphanet |
Polyendocrine polyneuropathy syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Polyglucosan body myopathy type 2 |
en |
Attribution |
Inserm Orphanet |
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Polymicrogyria due to TUBB2B mutation |
en |
Attribution |
Inserm Orphanet |
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) |
en |
Attribution |
Inserm Orphanet |
Porokeratosis plantaris palmaris et disseminata (disorder) |
en |
Attribution |
Inserm Orphanet |
Postaxial polydactyly type A (disorder) |
en |
Attribution |
Inserm Orphanet |
Postaxial polydactyly type B (disorder) |
en |
Attribution |
Inserm Orphanet |
Posterior amorphous corneal dystrophy (disorder) |
en |
Attribution |
Inserm Orphanet |
Posterior cortical atrophy syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Posterior meningocele |
en |
Attribution |
Inserm Orphanet |
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome |
en |
Attribution |
Inserm Orphanet |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
en |
Attribution |
Inserm Orphanet |
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency |
en |
Attribution |
Inserm Orphanet |
Potter sequence cleft lip and palate cardiopathy syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Predisposition to invasive fungal disease due to CARD9 deficiency |
en |
Attribution |
Inserm Orphanet |
Predisposition to severe viral infection due to interferon regulatory factor 7 deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) |
en |
Attribution |
Inserm Orphanet |
Prepubertal anorexia nervosa |
en |
Attribution |
Inserm Orphanet |
Primary biliary cholangitis and/or primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome |
en |
Attribution |
Inserm Orphanet |
Primary biliary cirrhosis co-occurrent with systemic scleroderma (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary pituitary carcinoma |
en |
Attribution |
Inserm Orphanet |
Primary carcinosarcoma of corpus uteri (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary choriocarcinoma of central nervous system |
en |
Attribution |
Inserm Orphanet |
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary cutaneous plasmacytosis |
en |
Attribution |
Inserm Orphanet |
Primary desmosis coli (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary dystonia 21 (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary dystonia type 13 (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary dystonia type 2 (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary dystonia DYT27 type |
en |
Attribution |
Inserm Orphanet |
Primary dystonia type 4 (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary failure of tooth eruption (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary hepatic neuroendocrine carcinoma (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary hypereosinophilic syndrome |
en |
Attribution |
Inserm Orphanet |
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary hyperplasia of mandibular condyle (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome |
en |
Attribution |
Inserm Orphanet |
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome |
en |
Attribution |
Inserm Orphanet |
Primary immunodeficiency syndrome due to p14 deficiency (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary immunodeficiency with multifaceted aberrant lymphoid immunity |
en |
Attribution |
Inserm Orphanet |
Primary intrahepatic lithiasis (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary localized cutaneous nodular amyloidosis (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary lymphedema |
en |
Attribution |
Inserm Orphanet |
Primary malignant Sertoli-Leydig cell tumor of ovary (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary non-gestational choriocarcinoma of ovary (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary oculocerebral non-Hodgkin lymphoma |
en |
Attribution |
Inserm Orphanet |
Primary orthostatic tremor (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary progressive non fluent aphasia (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary pulmonary lymphoma (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary squamous cell carcinoma of nasal cavity and paranasal sinus (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary triglyceride deposit cardiomyovasculopathy (disorder) |
en |
Attribution |
Inserm Orphanet |
Primary unilateral adrenal hyperplasia (disorder) |
en |
Attribution |
Inserm Orphanet |
Proboscis lateralis (disorder) |
en |
Attribution |
Inserm Orphanet |
Progeroid features, hepatocellular carcinoma predisposition syndrome |
en |
Attribution |
Inserm Orphanet |
Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome (disorder) |
en |
Attribution |
Inserm Orphanet |
Progressive bifocal chorioretinal atrophy (disorder) |
en |
Attribution |
Inserm Orphanet |
Progressive cavitating leukoencephalopathy (disorder) |
en |
Attribution |
Inserm Orphanet |
Progressive cerebello-cerebral atrophy (disorder) |
en |
Attribution |
Inserm Orphanet |
Progressive deafness with stapes fixation (disorder) |
en |
Attribution |
Inserm Orphanet |
Progressive encephalopathy with severe infantile anorexia (disorder) |
en |
Attribution |
Inserm Orphanet |
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome |
en |
Attribution |
Inserm Orphanet |
Progressive hemifacial atrophy (disorder) |
en |
Attribution |
Inserm Orphanet |
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome |
en |
Attribution |
Inserm Orphanet |
Progressive myoclonic epilepsy type 7 |
en |
Attribution |
Inserm Orphanet |
Progressive myoclonic epilepsy type 9 |
en |
Attribution |
Inserm Orphanet |