Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Holoprosencephaly-caudal dysgenesis syndrome
Antenatal, Neonatal
Holoprosencephaly-craniosynostosis syndrome
Antenatal, Neonatal
Holoprosencephaly-postaxial polydactyly syndrome
Autosomal recessive
Antenatal, Neonatal
Holoprosencephaly-radial heart renal anomalies syndrome
Antenatal, Neonatal
Holt-Oram syndrome
Autosomal dominant
Antenatal, Neonatal
Holzgreve syndrome
Antenatal, Neonatal
Humerus trochlea aplasia
Neonatal
Hunter-McAlpine syndrome
Antenatal, Infancy, Neonatal
Hydranencephaly
Autosomal recessive, Unknown
Antenatal, Neonatal
Hydrocephalus-blue sclerae-nephropathy syndrome
Unknown
No data available
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
Unknown
Neonatal
Hydrocephalus-obesity-hypogonadism syndrome
X-linked recessive
Infancy, Neonatal
Hydrocephaly-cerebellar agenesis syndrome
X-linked recessive
Neonatal
Hydrocephaly-low insertion umbilicus syndrome
Neonatal
Hydrocephaly-tall stature-joint laxity syndrome
Autosomal recessive
Infancy
Hydrolethalus
Autosomal recessive
Antenatal, Neonatal
Hydrops fetalis
Not applicable
Antenatal
Hyperandrogenism due to cortisone reductase deficiency
Autosomal dominant, Autosomal recessive
Antenatal, Infancy, Neonatal
Hypergonadotropic hypogonadism-cataract syndrome
Autosomal recessive
Adolescent
Hyperostosis corticalis generalisata
Autosomal dominant, Autosomal recessive
Adolescent, Childhood
Hypertelorism-hypospadias-polysyndactyly syndrome
Autosomal recessive
Neonatal
Hypertelorism-microtia-facial clefting syndrome
Autosomal recessive
Antenatal, Neonatal
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Autosomal dominant
Infancy, Neonatal
Hypertrichosis cubiti
Autosomal dominant
Childhood