Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Short rib-polydactyly syndrome, Verma-Naumoff type
Autosomal recessive
Antenatal, Neonatal
Short stature due to GHSR deficiency
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Short stature due to growth hormone qualitative anomaly
Autosomal recessive
Infancy, Neonatal
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked recessive
Infancy, Neonatal
Short stature due to partial GHR deficiency
Unknown
Childhood
Short stature due to primary acid-labile subunit deficiency
Autosomal recessive
Infancy, Neonatal
Short stature, Brussels type
Unknown
Infancy, Neonatal
Short stature-advanced bone age-early-onset osteoarthritis syndrome
Autosomal dominant
Adolescent, Childhood
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Autosomal recessive
Neonatal
Short stature-brachydactyly-obesity-global developmental delay syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Short stature-craniofacial anomalies-genital hypoplasia syndrome
Infancy, Neonatal
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
Antenatal, Neonatal
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Autosomal recessive
Childhood, Infancy
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Autosomal recessive
Infancy, Neonatal
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Autosomal recessive
Infancy, Neonatal
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Autosomal dominant
Infancy, Neonatal
Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
Autosomal recessive
Childhood, Infancy, Neonatal
Short stature-valvular heart disease-characteristic facies syndrome
Autosomal dominant
Infancy, Neonatal
Short stature-webbed neck-heart disease syndrome
Unknown
Infancy, Neonatal
Short stature-wormian bones-dextrocardia syndrome
Infancy, Neonatal
Short tarsus-absence of lower eyelashes syndrome
Autosomal dominant
Infancy, Neonatal
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
Autosomal recessive
Infancy, Neonatal
Short-limb skeletal dysplasia with severe combined immunodeficiency
Not applicable
Infancy, Neonatal
Shprintzen-Goldberg syndrome
Autosomal dominant, Multigenic/multifactorial, Not applicable
Antenatal, Infancy, Neonatal