Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Hurler-Scheie syndrome
Autosomal recessive
Infancy, Neonatal
Hutchinson-Gilford progeria syndrome
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Hyaline fibromatosis syndrome
Childhood, Infancy, Neonatal
Hyaluronidase deficiency
Autosomal recessive
Childhood
Hydatidiform mole
Autosomal recessive, Not applicable
Adolescent, Adult
Hydranencephaly
Autosomal recessive, Unknown
Antenatal, Neonatal
Hydroa vacciniforme
Not applicable
Childhood
Hydroa vacciniforme-like lymphoma
Not applicable
Adult, Childhood
Hydrocephalus with stenosis of the aqueduct of Sylvius
X-linked recessive
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
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Neonatal
Hydroxykynureninuria
Autosomal recessive
Infancy, Neonatal
Hymenolepiasis
Not applicable
All ages
Hyper-IgM syndrome type 2
Autosomal recessive
Hyper-IgM syndrome type 3
Autosomal recessive
Hyper-IgM syndrome type 5
Autosomal recessive
Hyper-beta-alaninemia
Neonatal