Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Autosomal recessive
Infancy, Neonatal
Prominent glabella-microcephaly-hypogenitalism syndrome
Antenatal, Neonatal
Propylthiouracil embryofetopathy
Antenatal, Infancy, Neonatal
Proteus syndrome
Not applicable
Infancy
Proximal 16p11.2 microdeletion syndrome
Autosomal dominant, Not applicable
Childhood
Proximal 16p11.2 microduplication syndrome
Infancy, Neonatal
Proximal Xq28 duplication syndrome
Antenatal, Neonatal
Proximal symphalangism
Autosomal dominant
Infancy, Neonatal
Prune belly syndrome
Autosomal dominant, Not applicable, X-linked recessive
Antenatal, Neonatal
Pseudo-TORCH syndrome type 1
Autosomal recessive
Antenatal, Neonatal
Pseudoaminopterin syndrome
Antenatal, Neonatal
Pseudodiastrophic dysplasia
Autosomal recessive
Infancy, Neonatal
Pseudoleprechaunism syndrome, Patterson type
Antenatal, Neonatal
Pseudoprogeria syndrome
Unknown
Infancy, Neonatal
Pterygium colli-intellectual disability-digital anomalies syndrome
Autosomal dominant, X-linked dominant
Neonatal
Ptosis-strabismus-ectopic pupils syndrome
Autosomal dominant
Childhood, Infancy, Neonatal
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
Autosomal recessive
Infancy, Neonatal
Ptosis-vocal cord paralysis syndrome
Neonatal
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
Antenatal, Neonatal
Pure hair and nail ectodermal dysplasia
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Pyknoachondrogenesis
Autosomal recessive
Antenatal, Neonatal
Pyramidal molars-abnormal upper lip syndrome
Autosomal recessive
Childhood
QRICH1-related intellectual disability-chondrodysplasia syndrome
Autosomal dominant
Antenatal, Infancy, Neonatal
RAPADILINO syndrome
Autosomal recessive
Infancy, Neonatal